GeneWatch Vol. 24 No. 1

GENEWATCHTHE MAGAZINE OF THE COUNCIL FOR RESPONSIBLE GENETICS | ADVANCING THE PUBLIC INTEREST IN BIOTECHNOLOGY SINCE 1983

VVolumeolume 24 N24 Numberumber 1 | F1 | Februaryebruary-m-marcharch 20112011

“It is time to challenge, in legal and political forums, the ways biobanks are created and run.”Henry T. Greely, page 4

PLUS:> James Evans on tempering expectations of a genomic ‘revolution’> Public concern about genetic privacy on the rise> The new Massachusetts Genetic Bill of Rights

ISSN 0740›9737

definition also corroborates whatRobert Green, Susan Wolf, GeorgeAnnas and Patricia Roche all pointedout to me during interviews for thisissue: the scale of biobanks ranges “fromindividual refrigerators to warehouses.”The biological samples could be blood,spinal fluid, tissue from tumors, youname it. Researchers have access to thegenetic information of whoever submit-ted their sample, although unlike aDNA databank, that information maynot yet have been gleaned from thesample.This issue of GeneWatch includes

discussion of the practical and ethicalconcerns, research and logistical chal-lenges, and the utility of different typesof biobanks. It also features an inter-view with Christy White, one of thepeople behind a study finding that evenafter the passage of the Genetic Infor-mation Nondiscrimination Act,Americans are more concerned thanever about their genetic privacy; an arti-cle by Steven May, Executive Directorof the Forum on Genetic Equity, on theproposed Massachusetts Genetic Bill ofRights; and an interview with JamesEvans, a recent GeneWatch fixture andco-author of a Science article urging amore realistic view of the practicalreturns of genetic research. That arti-cle (“Deflating the Genomic Bubble,”appearing in Vol. 331 of Science in Feb-ruary) draws attention to the problemsthat arise from inflated expectationsof genomics.In other words, what this issue lacks

in eye-catching imagery it makes up forin smart commentary. Besides, youdon’t read GeneWatch for the pictures,right?

Shortly after I started as editor ofGeneWatch, I promised myself that wewould staunchly avoid printing imagesof double helixes floating in space. It’snot as silly as it sounds, actually. Here’sa fun activity for the folks at home: Trya Google image search for “DNA” or“genetics.” Now try a Google newssearch for those terms. Now click on afew of those articles and see how manyuse some version of that same DNA-in-space motif.I wouldn’t presume to chalk it up to

laziness—partly because all of thebiggest news outlets are perpetrators,but mainly because it didn’t take melong to discover why everyone else sooften reverted to the double helix illus-tration. For many articles, you can justprint a photograph of your subject, beit a person, place, or thing. An isolatedDNA molecule is a tad less photogenic.For some thematic articles, there maybe a whole array of imagery that agreeswith the topic. For education you havebuses, chalkboards, and kids with back-packs; for global warming you havemelting glaciers, swimming polar bears,and all manner of natural disasters; forgenetics, you have … a double helix. Ifyou think that sounds engaging, checkout the stock alternatives! You canzoom out and show the whole chromo-some; you can zoom in and show theDNA’s base pairs; or, for the humantouch, why not try a photo of a scientistlooking into a microscope?Perhaps I exaggerate, but the fact

remains: some topics are just more dif-ficult than others to capture in a visuallyinteresting way. “Biobanks” qualifies.For starters, pictures of shelves in afreezer or a rack of blood samples maynot exactly arrest the imagination.More importantly, though: what is abiobank, anyway? Let’s go to that mosttrusted of sources, Wikipedia (which inturn gets its definition from a 2010 arti-cle in Wired by Steve Silberman): “Abiobank is a cryogenic storage facilityused to archive biological samples foruse in research and experiments.” This

2 GeNeWatch February-march 2011

Editor’s NoteBy SaMuElW. anDErSOn

GeneWatch welcomes all commentsand letters to the editor. Please [email protected] if you wouldlike to submit a letter or with any othercomments or queries, including propos-als for article submissions.

What do you think?

GENEWATCH

GEnEWatCh is published by the Council for ResponsibleGenetics (CRG), a national, nonprofit, tax-exempt organ-ization. Founded in 1983, CRG’s mission is to foster publicdebate on the social, ethical, and environmental implica-tions of new genetic technologies. The views expressedherein do not necessarily represent the views of the staff orthe CRG Board of Directors.

address 5 Upland Road, Suite 3 Cambridge, MA 02140PhoNe 617.868.0870 Fax 617.491.5344 Net

www.councilforresponsiblegenetics.org

board oF directors

SHELDON KRIMSKY, PhD, Board Chair Tufts University

PETER SHORETT, MPP treasurerThe Chartis Group

EVAN BALABAN, PhDMcGill University

PAUL BILLINGS, MD, PhD, University of California, Berkeley

SUJATHA BYRAVAN, PhDCentre for Development Finance, India

ROBERT DESALLE, PhDAmerican Museum of Natural History

ROBERT GREEN, MD, MPHBoston University

JEREMY GRUBER, JDCouncil for Responsible Genetics

RAYNA RAPP, PhDNew York University

PATRICIA WILLIAMS, JDColumbia University

EDITORIAL COMMITTEE

Ruth Hubbard Sheldon KrimskyJeremy Gruber

EDITOR & DESIGNER

Samuel W. Anderson

February-march 2011 Volume 24 Number 1

Unless otherwise noted, all material in this publication is protected by copyright bythe Council for Responsible Genetics. All rights reserved. GeneWatch 24,1

0740-973

COVER ART

Samuel W. Anderson

staFF

Jeremy Gruber, President and Executive DirectorSheila Sinclair, Manager of Operations

Samuel Anderson, Editor of GeneWatchKathleen Sloan, Program Coordinator

Andrew Thibedeau, Senior FellowMagdalina Gugucheva, Fellow

Volume 24 Number 1

Time to Raise Some HellPaying attention to the privacy concerns in

biobanks protects not only the patient, but thefuture of biomedical research

HENRY T. GREELY

Suspect CreaturesBalancing ethics and utility in

research biobanksINTERVIEWS WITH GEORGE ANNAS, ROBERT GREEN,

PATRICIA ROCHE AND SUSAN WOLF

UK Biobank: The Grand ExperimentAfter recruiting half a million participants,Britain’s national biobank faces what you

might call an identity crisisHELEN WALLACE

From the Cradle to the LabNewborn blood spot screening saves thou-

sands of infants’ lives each year ... but thosesamples don’t just disappear

SAMUEL W. ANDERSON

Book Review: Ethical Issues of HumanGenetic DatabasesANDREW D. THIBEDEAU

****

Genetic Privacy Worries on the RiseConsumers are warier than ever of their

genetic privacy—and it’s impacting their deci-sions about getting genetic tests

INTERVIEW WITH CHRISTY WHITE, COGENT RESEARCH

Re-lighting the BeaconThe Massachusetts Genetic Bill of Rights looks

to address new issues - and spark a nationalconversation

STEVE MAY

GM Alfalfa: An Uncalculated RiskWith the first planting fast approaching, it

remains unclear why we need Roundup Readyalfalfa in the first place

PHILIP BEREANO

Topic update: Direct-to-Consumer GeneticTesting Criticized at FDA Hearing

The Harm of HypeOverstating the immediate utility of genomics

draws attention - and funding - away from cru-cial genetics and behavioral research

INTERVIEW WITH JAMES EVANS

Endnotes

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Researchers, research institutions,health care organizations, and othersare busily creating vast repositoriesof tissue samples and health informa-tion about hundreds of thousands, ormillions, of people. Some of theserepositories are mainly samples, someare mainly data (silicon-based), andsome are both. I will refer to them allbroadly as “biobanks.” These biobanks are being created

for good reasons. Researchers are des-perate to get more—more samples,more analyses, more health records,more data, from more people, withmore diseases, in more different set-tings. And they are right to be eager.Massive quantities of data may allowus to tease out the causes of variousdiseases and give us leads toward pre-vention, treatment, or cures. Moreimmediately, research use of detailedelectronic health records may allow usto make today’s medicine safer,cheaper, and more effective. (Researchfrom an HMO’s electronic healthrecords, for example, helped reveal theheart risks of Vioxx.)But these biobanks also hold risks.

The people whose tissue, DNA, orhealth records are stored in biobankscould be harmed. And cases of suchharm could prompt a backlash, ulti-mately slowing medical progress. Intheir desperate quest for data and sam-ples, researchers, aided and abetted bynarrow interpretations of the laws,regulations, and ethical precepts gov-erning human subjects research, areriding roughshod over the reasonable

expectations—and the appropriaterights—of the people whose data andmaterials they are using.Those expectations relate to con-

sent to research, control over whatresearch is done, privacy protections,and sharing of significant results withthose whose samples and health infor-mation make the whole enterprisepossible. Most people think they need to

give their consent before they can beresearch subjects. This is not unrea-sonable. A U.S. military court orderedseveral Nazi researchers executed forviolating the first tenet of what cameto be known as the NurembergCode—no research without theresearch participant’s consent. Thatbroad rule was never entirely true, butit is being stretched increasing thin, introubling ways. For one thing, the U.S.

government has decided that if theresearch samples or data cannot eas-ily be connected to an identifiedperson by the particular researcherdoing the work—even though some-one knows whose data is involved andmany people could be identified bypeople who really wanted to do so—itisn’t “really” human subjects research.Parents in Texas and Minnesota dis-

covered, to their surprise, that thisincluded blood spots from their new-born babies, taken for medicalscreening, with no consent, but thenused for research. Of course, many people actually do

consent for research, often on a par-ticular topic that is of interest to them.Members of a family with a strong his-tory of Alzheimer disease or breastcancer will often volunteer forresearch on that disease. They maylater discover, to their shock, that theirdata is being used for research on top-ics they did not consent to, did notknow about, and do not like. In thecase of the Havasupai, a Native Amer-ican people in Arizona, this includedresearch they found deeply offensive.This secondary research often pro-ceeds not just without the participants’consent but without any oversight by

IRB’s; if the data and samples areviewed as unidentified, it isn’t humansubjects research—even if it looks atthe DNA and health records of real,live humans. A recent study looked at people

who had volunteered for a study of thegenetics of Alzheimer disease, whowere then asked to let their data andmaterial be used for broader research.


It is time to challenge, in legal and politicalforums, the ways biobanks are created and run.

It is time to get this right.

Time to Raise Some Hell

Paying attention to the privacy concerns in biobanks protectsnot only the patient, but the future of biomedical research

BY HENRY T. GREELY

Eighty-eight percent of them agreed tothis broader use—although that’s apretty good number, the twelve per-cent who refused are not trivial. Onthe other hand, a survey of those whoagreed to further research usesshowed that ninety percent of thembelieved it was important that they hadbeen asked.1Some people may not care, as long

as their privacy is protected. But is it?In some situations, research data canbe legally obtained by the police, attor-neys, or anyone else with a court order.In other cases, even protected data canbe illegally, or accidentally, obtainedfor non-research purposes—throughhacking, through lost or stolen com-puters, or even when people withlegitimate access to data use it for inap-propriate reasons. (Ask celebrities howstrongly protected their health infor-mation is when they go to a hospital.)At one extreme, researchers make dataanonymous, stripping all the identi-fiers from it and therefore, they argue,fully protecting privacy. But even this“anonymization” is a fiction. Give medate of birth, sex, height, weight, andplace of birth of an anonymous personand I’ll bet that, with a little work, I canusually give you his or her name. Giveme all the information in a detailedelectronic health record and it shouldoften be easy. This is not an entirely hypothetical

boast. A few years ago, the then-gov-ernor of Massachusetts, William Weld,ordered all health records for stateemployees and Medicaid recipients to

be made available to researchers. Don’tworry, he said, no records will be iden-tifiable. A couple of days later, acomputer scientist named LatanyaSweeney visited the governor’s officeand handed his receptionist copies ofthe governor’s medical records. Shehad identified them using only pub-licly available motor vehicle and voterregistration databases. Finally, biobanks will often contain

important information about researchparticipants that those people them-selves don’t know. Consider, forexample, a brain scan that shows atumor or a genetic analysis that revealsa very high health risk. Most peopleassume that researchers will tell them,or their doctors, about this importantinformation. Most research projects,however, expressly promise not toreturn any information, no matter howmedically significant. This is a scandaljust waiting to happen, the first timethe widow of a dead former researchparticipant realizes that theresearchers had information thatcould have saved her husband’s life—if he had been told about it. Now, in fact, many people—per-

haps most people—are happy toparticipate in medical research. Butthey have reasonable expectationsabout taking part in research. Theywant to have their permission asked.They want to know what their samplesand information will be used for. Theywant to know just how private theirinformation will be. And they want toknow that researchers, whose work—

whose careers—the research partici-pants make possible, will care enoughabout those participants to warn themof health risks they uncover. The underlying problem in all these

cases is the mismatch between whatthe research participants think is hap-pening with their samples and dataand what is actually happening. What-ever else happens, a systematicviolation of the expectations of peoplewhose tissue, blood, DNA, and per-sonal health information is being usedin research is just wrong. And, morepractically, if—no, when—they findout that their expectations are beingignored, they will be upset. At least,they should be. And their unhappi-ness—in some cases, outrage—couldhold back important research. I have made these arguments

before, over many years—in moredetail in academic journals2,3, morebroadly in a book chapter4, and withequal fervor in an editorial in an ethicsjournal.5 The responses were, to bekind, underwhelming. I think it is timeto move beyond careful analyses andimpassioned editorials. It is time tochallenge, in legal and political forums,the ways biobanks are created and run.It is time to get this right, to protectthe rights and interests of researchparticipants and to protect the futureof important biomedical research.Who’s with me?

Henry T. Greely, JD, is Director of theCenter for Law and the Biosciences atStanford University.

Volume 24 Number 1 GeNeWatch 5

Populating biobanks

Susan Wolf:Part of the challenge is thatbiobanks come in all shapes and sizes.There is a tremendous variety.

Robert Green: There are thousands ofdifferent entities that you might call abiobank. So it may be helpful to considerwhether we are talking about bloodbanks, tissue banks, clinic or researchbanks, tumor banks or actual DNAbanks.

GeneWatch:Where do all of these sam-ples come from?

Patricia Roche: A lot of projects haveprojected numbers, so in order toanswer the questions they want toanswer, they need a sizeable group or thepower of their results is not going to bethere. Getting that number of samples

is a challenge. If you stop me on thestreet and say, “I want you to give me abiological sample,” I’m just going to say,“Go away.” You need the opportunity toengage with someone to get the sam-ple, or you have to get the samples fromsomeone who has already collectedthem.

RG: Every time a hospital pathologydepartment takes a surgical sample inthe course of a patient’s care, they main-tain that sample somewhere in thepathology department of the hospital.That’s been going on for decades in thename of good clinical care. If pathologydecides you have a certain kind of tumor,and you get treated on the basis of thatdecision, it’s important to be able tocome back years later and look at thoseslides. Holding onto stored tissue in hos-pitals is considered standard of care, atleast in certain circumstances, and thereis a good reason for it.

George Annas: Last year researcherscollected samples at the Minnesota StateFair from kids. The alternative was tocollect them in a hospital, and theythought that might not be representa-tive, and they wanted to study healthykids. They plan to follow the kids atthe fair each year; and we’ll have to waitto see whether this strategy is success-ful. Of course, when the children turn18 they should have the right to eithercontinue or have their samples andinformation destroyed.

RG: You might look at drug studies, too.Every drug that’s on the market had togo through clinical trials, and every clin-ical trial had to take samples for bloodlevels of the blood, monitoring for ill


Suspect Creatures

Balancing ethics and utility in research biobanks

FROM INTERVIEWS WITH

GEORGE ANNAS

ROBERT GREEN

PATRICIA ROCHE

AND SUSAN WOLF

Four scholars spoke to GeneWatch inthree separate interviews about researchbiobanks. George Annas, JD, MPH isChair, Health Law, Bioethics & HumanRights at Boston University School ofPublic Health; Robert Green, MD, MPHis Associate Director of the Harvard-Partners Center for Personalized GeneticMedicine and a geneticist at Brighamand Women's Hospital; Patricia Roche,JD, MEd is Associate Professor, HealthLaw, Bioethics & Human Rights atBoston University School of PublicHealth; and Susan Wolf, JD is McKnightPresidential Professor of Law, Medicine& Public Policy and the Faegre & BensonProfessor of Law at the University of Min-nesota.

effects. I don’t know how long drug com-panies keep those samples, but theycertainly store them while the study isongoing, and they may analyze thegenetics of those samples for pharmaco-genetic features of the new drug as partof their study analysis.

GW:Once a sample is being stored, howlong might it be kept there?

PR: One thing that I think is overlookedis any kind of a standard for destruc-tion of samples. It seems to me that rulesfor destruction of samples are often notbuilt in. Sometimes this might be done

intentionally, particularly in studieswhere they are building fishing expedi-tions to look for diseases; they don’tknow how long it might take them tofind something. But there are otherinstances where you could identify anend point at which the project will becompleted, and without the endpointsbeing built in, what happens to a par-ticular collection when whoever createdit is done with it? It’s up for grabs.

GA: There are no good rules on trans-ferring samples if, say, the collection’sowner goes to bankruptcy court. It’s abig deal. People might be happy to givetheir DNA to Joe Shmoe’s DNA bank forresearch on prostate cancer; but not tolet it be sold to the highest bidder in aliquidation sale.

PR: And what happens when he’s done?Who’s responsibility is it to make surethat either the samples are safeguardedand preserved somewhere, or that theyare destroyed? It’s up in the air.

GA: As a general rule, scientists don’tlike to throw out anything. And it’s hardto blame them; you really don’t know

what the next research project willrequire.

PR: Once I was using a consent form fora study as an example in my class. I askedthe class what their understanding wasafter reading that form, and their under-standing was that if they gave a samplefor this study, after a period of time thesample would be destroyed. And I asked,“What do you think ‘destroy’ means?”There happened to be someone in theclass who was actually involved in thestudy, and she said, “Oh, I suppose you’dthink that would mean that we wouldflush it down the toilet or something, but

we don’t do that. We just put it on theshelf.” I asked why they wouldn’t destroyit, and she said, “Because we thinkmaybe the person would change theirmind, and we would have lost it. If wealready have it, we don’t have to getanother one from them. … But now thatI’m thinking about it, that’s not reallywhat we tell people, is it?”

It’s that mindset—“We don’t want todestroy anything because it might beuseful, we might need it, something elsemight happen.”

GW:Are there any laws governing own-ership of samples in biobanks orwhether ownership can be transferred?

GA:Not really. There’s not much doubtthat you “own” your own DNA samplein the sense you can give it as a gift to abiobank; but just what other things youcan (or can’t) do with it are not as cer-tain. There also aren’t any gene banktransfer laws. You have to argue the legalstatus of DNA by analogy, and theanalogies aren’t very good here. Geneticinformation is unique, although mostclosely analogous to medical informa-

tion; and the DNA sample itself couldalso be viewed as a medical informationrepository. And, of course, we will beable to derive more information from itin the future.

PR: As we go forward and as we learnmore and more about the humangenome, that sample is going to get morevaluable. If I gave you a sample for a par-ticular purpose, do I really have any ideawhat I gave you?

GW: Is there liability for whoever col-lects or stores the samples to protectparticipants’ privacy?

GA: DNA bankers and researchers needto take reasonable steps to protect pri-vacy. To protect, not to ensure; nobody’sguaranteeing that.

PR: George Church’s idea is that weneed to get over treating DNA samplesand genetic information like this is suchsacred or harmful stuff. He theorizesthat if volunteers in genomic studiesprovided unrestricted access to identi-fiable data from their DNA and medicalrecords, nothing bad or harmful wouldhappen to them. Consequently, the pub-lic would be less hesitant to take part ingenetic research and researchers wouldhave no need to make unrealistic guar-antees that privacy will be maintained.

GA: It would be unreasonable to askfor a total guarantee of privacy. If youneed a guarantee, don’t give your sam-ple.

GW:What do we mean when we referto “de-identified” samples? Is there reallysuch a thing?

RG: “De-identified” means the sampleis given a code, and the link between thecode and the actual names and identify-ing features of the subject are kept in alocked drawer or a computer file some-where that’s considered confident.

GA: “De-identify” is an inherently


“As researchers, we can’t guarantee privacy.”

February-march 2011

whether the biobank or perhaps atrusted intermediary should hold thecodes, so that the full burden of dealingwith potential incidental findings fromresearch results doesn’t fall on the col-lecting research site—where the originalresearcher may be dead or retired orhave run out of funding.

Incidental findings and returning results

RG: Say you’ve given me your sample forsome kind of genetic testing, and I find—either by accident, or because I happento be studying breast cancer—that youhave a very prominent risk of breast can-cer. Do I have a moral responsibility totell you? Do you even want to know?Could I even contact you if you did wantto know? And is it my responsibility asa researcher, on a research budget, tosomehow hire the staff to call you up andcontact you? At the present time, this isa huge ethical mess.

SW: This whole question of incidentalresults and return of findings has reallyexploded and become a very pressingquestion in the design of researchbiobanks—both prospectively and also

for established biobanks, facing thequestion of what to do with the inciden-tal findings and potentially actionableresults they’ve already got in hand.

There are people who argue thatbiobanks shouldn’t be in the businessof returning incidental findings andresearch results at all; that these areimportant, crucial resources for the con-duct of genetic and genomic research,particularly large scale research; thatthey have limited resources, they are not

clinical care entities, and their resourcesshouldn’t be used for the purposes ofclinical care. Furthermore, manybiobanks are constructed based on thereceipt of de-identified samples anddata, so they really are not very well setup to return information to participants.So there are a lot of practical barriers,resource barriers, and, some peoplewould argue, ethical barriers to return-ing incidental findings at the biobanklevel

The pushback is that we have growingdata to suggest that participants areinterested and want clinically importantand perhaps reproductively importantinformation. In Europe, in particular,there has been a lot of movement towardsuggesting that biobanks andresearchers owe participants clinicallyimportant information as an expressionof reciprocity, solidarity, and respect.

GW: Are there very many researchbiobanks currently that return findingsto participants?

SW: We’ve discovered that there arestudies and biobanks that do, but I donot think that is the dominant approachright now. I think there is a great dealof concern about the cost of doing this

and whether biobanks are set up to doit. There is not widespread consensusyet on exactly what incidental resultsand research findings are appropriate forreturn. I think the question of how tohandle incidental findings and return ofresults is still very much up for grabs.

GW: How might the determination bemade whether or not a particular resultor incidental finding should be reportedto the individual who provided the sam-ple?

8 GeNeWatch

ambiguous term that could permit, forexample, a trusted intermediary to keepsole possession of a code used to iden-tify the samples. A much better term is“unlinkable”—even though you couldargue that nothing’s unlinkable, becausesomeday we’re going to be able to linkeverything.

SW: De-identification has for a longtime been of concern to researchers; butthe technology for re-identifying peoplehas advanced. That has really, I think,led to the recognition that we probablyshouldn’t use words like “anonymous”or “anonymize” anymore, because witha reference sample you really can re-identify it. People more commonly talkabout degrees of de-identification. Ithink that has made us cautious aboutthe potential for re-identification andmodest about what we accomplish whenwe de-identify.

PR: If I have this little bit of someone’ssequence but I don’t know the person’sidentity, the theory is that I could go intosome public database, and when it hitson a match, I can figure out who it is. ButI think all that would tell you is that who-ever’s sample it is that you started outwith, they are also in this database.Depending upon what else I know abouthow folks were selected for inclusion inthe database (e.g., only individuals witha history of heart disease) or how largethe pool is, I might draw some conclu-sions about the source of my sample.But whether I can also readily figure outwho they are is less clear.

GA: So, can you identify someone froman “unlinkable” or “anonymized” sam-ple? Theoretically, but the odds are slim.

GW: If researchers need to communi-cate with participants later, who does there-identification?

SW:The most common answer to that,in the past, has been that it should be thecollecting site and the originalresearchers; but there is the question of

“The question of how to handle incidental findings and return of results

is still very much up for grabs.”


you’re likely to find something thatmight be significant to people, and notsay to them upfront, “By the way, we’relikely to find something that would bebeneficial to you, but we’re not going totell you—is that OK?”

GA: This really goes to the question ofwhat the person giving the DNA samplethinks the deal is. Is that person simplygiving a “gift” to science with no expec-tation of any individual knowledge orinformation coming back to him or her,or is the person making a healthcareagreement with the DNA bank in theexpectation that any information foundabout my particular genome will beshared with the donor? This makes allthe difference, because if it is the latterexpectation, and if you don’t contact me,am I supposed to think I’m OK? ShouldI think, “They didn’t contact me, mygenome must be clean”?

SW: I should introduce the caveat thatalmost nobody talks about imposing thisinformation on research participants. So“return of results” is really a little bit ofa misnomer; it’s really offering backresults and incidental findings to partic-ipants who are interested in receivingthem.

RG: Say I perform a research study andI say to you explicitly that I am going totake and store your biological sample,and I would like your permission to giveit to any researcher I want. It will stayde-identified—meaning it’s theoreticallypossible to hook up to your identity, butwe’ll make every effort to keep it confi-dential—and you will never learnanything back from me. Is that enough?

The alternative is almost unthinkable tomany people who actually run biobanks,because it starts to turn the researcherinto a population screening machine andto conflate the role of researcher withthe role of the clinician.

SW:Researchers conceive of themselvesas researchers, not clinicians. So the idea

that researchers owe some kind of dutyto participants to find information ofclinical importance, and then to offerthat back to participants, kind of existsin tension with the research mission. Ittakes money, it takes resources, and itreally is not what research is set up to do,at its core. It challenges the traditionalline that we’ve drawn between researchduties and clinical care duties.

Clinical care duties are very robust andbroad; research duties have really beenconceived as primarily pursuing gener-alizable knowledge, rather than caringfor individual research participants andreturning information to them of theirown particular clinical care or reproduc-tive decisions.

GW: Research biobanks make a lot ofvery important research possible. Howmuch is really at stake in how an indi-vidual’s sample is handled?

PR: I think the worst that could hap-pen is for people to give away sampleswithout knowing what they are signingup for. Firstly, they may be exposed to arisk that they wouldn’t accept; but I alsothink that it’s insulting and disrespect-ful not to inform participants. If I’mgoing to ask you for something, andyou’re not going to get any benefit fromit, and I need it to do something that Ithink is going to be important, then itseems to me the very least that I can dois be honest with you, to tell you what itis I want to do.

GA: There’s no excuse for a researchernot to tell you what they’re doing. Andnot just for the DNA donor’s sake.Anthropologists used to warn their col-leagues: “You have to be nice to thegroup you’re studying, for the nextanthropologist who comes along. Don’tirritate (or exploit) them too badly ornobody else will be able to study themagain.” You don’t want to get the publicto view researchers as suspect creatureswho believe that participating in theirresearch is a matter of civic duty.

SW: I think there is a trend in the ethicsliterature toward recognizing a duty toconsider some results for return; forexample, where there is high clinicalimportance and actionability. “Action-ability” has become a term of art, and isdefined somewhat variously; but thebasic idea is that if you return theseresults, does it have the potential tochange the clinical course for this par-ticipant, either by opening up treatmentoptions or by increasing surveillance tolook for disease, for example the devel-opment of cancer.

I think that there is a developing consen-sus that high clinical importance plusactionability suggests consideringreturn.

PR: When it comes to that issue ofwhether to give results back to partici-pants, the first thing researchers have toask themselves is: what’s the reliabilityof the results to begin with? A lot ofresearch is so preliminary that theyreally don’t know whether they will findsomething that will have any utility. Andif they were going to give the informa-tion back to people, they need to knowhow confident they are about theresults—if not in terms of the clinicalvalidity, at least in terms of analyticalvalidity.

I don’t have a problem with somebodysaying upfront, “We may find some-thing, but until we do subsequentresearch and confirm either the testwe’re coming up with is a valid way ofdoing this or that the results have signif-icance, we’re not going to give you backinformation.”

GW: Committing to return resultsseems to open up another ethical canof worms.

PR: To say to people, “We’re not goingto give you back any information, is thatOK?” is one thing; it’s another thing toknow that the way you’re designing it,

In April 2002, I attended a meetingof genetic epidemiologists in London.The topic for discussion was UKBiobank: a planned study of thegenetic and environmental factors indisease which would involve the col-lection of DNA samples from half amillion people aged 40 to 69. Britain’sNational Health Service (NHS)planned to link genetic data from thesestored samples with lifestyle question-naires and with health outcomesrecorded in electronic medicalrecords.At the meeting, I intended to ask

some questions about the scientificbasis of the study, about which I hadsome serious concerns. Instead, Ibecame a silent witness to a ferociousargument. There were two sides to thedebate: those who thought that theproject was statistically meaninglessand should be abandoned; and thosewho argued that it was a politicallydone deal and that they should acceptthe money and try to get some extrafunding to add some scientifically use-ful studies onto the planned cohort.Ultimately, the latter faction won theday, but only after a bitter battle, con-ducted largely out of view of thepotential participants.1,2 During thecourse of its development, UKBiobank was attacked as a politicallydriven project based on unsubstanti-ated claims.3 Particularly damagingwere calculations which showed thatits design could not deliver on itspromise of characterizing gene-envi-ronment interactions and quantifyingso-called “genetic susceptibility” to

common diseases in the British pop-ulation.4Later research revealed the extent

to which the British Labour govern-ment, led by Tony Blair, had beencommitted to funding UK Biobank asa pilot study for a DNA database of thewhole population, linked to medicalrecords in the NHS.5 Lobbyists for theproject— including the WellcomeTrust, GlaxoSmithKline and the fun-ders of the Labour Party known as the‘biotech barons’—argued that screen-ing everybody’s genome would allowcommon diseases, such as heart dis-ease, cancer and type 2 diabetes, tobe predicted and prevented, along thelines popularized by the former U.S.head of the Human Genome ProjectFrancis Collins.6 The Governmentbelieved that transforming the NHS inthis way would allow Britain to win therace to commercialize the humangenome and build a new biotech econ-omy. In addition to Blair’scommitment to building UK Biobank,jointly with the Wellcome Trust, thisled to a £12 billion commitment tobuild a centralised database of elec-tronic medical records known as the‘Spine’ (now partially scaled back); aproposal to sequence the genome ofevery baby at birth (subsequently

abandoned); and a last ditch attemptby Blair’s successor Gordon Brown tointroduce a data-sharing law (pro-posed by Mark Walport of theWellcome Trust) that would haveallowed the government to share anymedical, genomic or other data withprivate companies, police or govern-ments without people’s knowledge orconsent. The latter proposal (hiddenin clause 152 of a bill that was largelyabout the powers of coroners) wasdropped within two weeks followingmassive public outcry.7A few enthusiasts remain for the

idea that one day everyone in Britainwill have their genome sequenced; butas more data has emerged, long-termskeptics are increasingly being vindi-cated by findings that gene sequenceshave poor predictive value for mostdiseases in most people.8 This does notdetract from the potential of genomicsto shed light on disease mechanisms;to diagnose genetic disorders or rareinherited forms of common disorders;or to aid the development of new can-cer treatments by studying mutationsand gene expression patterns thatemerge in cancer tumours. However,it does imply a growing recognitionthat there are likely to be fundamentallimits to disease prediction based on


UK Biobank: The Grand Experiment

After recruiting half a million participants, Britain’s national biobank faces what youmight call an identity crisis

BY HELEN WALLACE

Powerful funders should not be allowed todecide research priorities with such a lack of

transparency and so little consultation.

genetic make-up, and that the heri-tability of common diseases is likely tohave been exaggerated.9,10 Thisimplies a need to recognize that testsfor common genetic variants areunlikely to have clinically useful pre-dictive ability for complex diseases atan individual level, and to focus onimplementation of existing tests forcertain rare genetic variants (associ-ated with single gene disorders andsingle gene subsets of common dis-eases) that have demonstrable healthbenefits.11Half a million people have now

signed up to UK Biobank and theirblood samples are being stored in astate-of-the art facility near Manches-ter. But the rationale for why theproject is being undertaken is nowunclear, as are the ethical rules aboutwho will access the data and on whatterms. On the plus side, the idea that the

project should focus on genetic pre-diction of disease has largely beenabandoned. Some scientists remainconvinced that the project shouldnever have been funded, but othershave been encouraged by its shift inemphasis. They argue that it is unlikelythat such a large cohort will delivernothing useful, even though its origi-nal design was based on deeply flawedassumptions. It is possible that theshift of emphasis from genetic to non-genetic factors means that newbiomarkers (biological markers of risksuch as LDL cholesterol levels) mightbe identified that lead to new preven-tive drugs. On the down side, the UK Biobank

resource remains constrained by poor

environmental data and limited phe-notyping; a cohort that (by starting atage 40) cannot investigate early socialand developmental factors; and anexpensive fixation on storing samplesto test biological factors that areunlikely to provide the underlying rea-sons why most people develop mostdiseases. Future funding is also lessthan certain: the £65 million initialfunding was allocated to setting up theresource for access by researchers inacademia and industry. Actually gen-erating any findings will require newpublic and private money.The most likely outcome may be

that UK Biobank will find little ofinterest from a mix of genetic and bio-marker studies and gradually losefavour with researchers and with fun-ders. This does not mean that it willprove to be entirely useless, but its rolewill be overshadowed by better-designed existing and new cohortstudies which have a different empha-sis, such as the famous Whitehall studyof civil servants; the 1946 British birth-cohort study; and a new study plannedto look at babies’ health; all of whichinclude a much greater focus on socialinequalities.It is too late to stop the waste of

money involved in recruiting half amillion people to a study that wasnever properly designed. But there areimportant lessons for the future andfor elsewhere in the world. Foremostamong these must be the recognitionthat powerful funders (such as theWellcome Trust and the MedicalResearch Council in Britain; the Euro-pean Commission’s research fundingprogrammes; and the National Insti-

tutes of Health in the US) should notbe allowed to decide research priori-ties with such a lack of transparencyand so little consultation. As Britishgeneticist Professor Steve Jones haspointed out it is hard for scientists to“bite the hand that feeds them” andcriticise the limited value of somegenetic studies to powerful funderslike the Wellcome Trust.12,13 Suchfunding decisions remain in the handsof a tiny clique of powerful individu-als who are inevitably slow torecognise the flaws in the underlyingtheories on which they have built theirfame and their careers. This problemis exacerbated by conflicts of interest,as the history of promotion of the con-cept of genetic susceptibility clearlyshows, with key roles played by thetobacco, food, nuclear and pharma-ceutical industries: all keen toconvince members of the public thatcancer, hypertension, type 2 diabetesand obesity lay in their biology, not inthese companies’ products or pollu-tion, and was preventable by a massiveexpansion of the drug market to treatgenetic risk factors in healthy peo-ple.14,15,16A focus on the wrong research pri-

orities has serious and harmfulimplications for both health and pri-vacy. It is not inevitable that we all haveour genomes sequenced: it is part of amarketing strategy, not a crediblestrategy for health.17 We need to finda better way to decide research prior-ities if we are to solve the problemsthat we face.18

Helen Wallace is the Director ofGeneWatch UK.


If you were born in the United Statesin the past 40 years or so, getting yourheel pricked by a nurse was likely oneof your earliest experiences. The nursecollected several drops of your blood,probably on a paper card, and sent it tobe screened for diseases. Nearly everybaby born in the U.S. (and many othercountries) gets the same pinprick. New-born screening tests are mandated inmost of the country—and the benefitsare undeniable. The Centers for DiseaseControl estimate that each year screen-ing programs catch around 3,000 severedisorders in infants, with many of thesediagnoses allowing the disorder to becontrolled through early treatment. If you were born more recently,

depending on the state (around 1991 inMassachusetts), there is also a signifi-cant possibility that some of your DNA,in the form of dried blood on that samepaper card, is sitting in a storage facil-ity to this day. Perhaps some of it hasbeen used in research, or to validate thestate laboratory’s screening accuracy.Yet even under the best of intentions,

the notion of a government entity col-lecting and storing children’s bloodsamples is sensitive enough to stir con-troversy—particularly if parents don’tfind out about their state’s newbornblood spot storage program until aftertheir own child’s sample has been addedto it. In the past few years, parents inboth Texas and Minnesota took theirstate health department to court on thegrounds that the agency violated theirchild’s privacy by failing to acquire con-sent from the parents before storingsamples and making them available toresearchers. The Minnesota lawsuit(Bearder v. Minnesota) was dismissed,

but in the Texas case (Beleno v. Tex.Dept. of State Health Servs.) the healthdepartment agreed to new rules for con-sent and transparency.The screening itself is less con-

tentious, though not without somecontroversy. The idea of the procedurebeing required by law may not sit wellwith some, but the practice has been inplace for decades. Even when given theopportunity, very few parents turn downthe screening. There’s good reason forthat, says Robert Green, AssociateDirector of the Harvard-Partners Cen-ter for Personalized Genetic Medicineand a geneticist at Brigham andWomen's Hospital.“Newborn screening has undoubt-

edly saved thousands, if not tens ofthousands of lives by identifying treat-able metabolic disorders early,” Greensays. “PKU—the disease that startednewborn screening—is the most dra-matic example. If you don’t starttreatment right away with special diet,the child suffers irreversible neurologi-cal damage; if you do treat from thebeginning with a special diet, the childgrows up without these problems.”The complications begin to arise

after the child’s panel of tests has beencompleted. Only a portion of the driedblood on the newborn blood spot cardis used up in the standard screening.Generally, the rest of the sample will bestored for a while and used only to con-firm a diagnosis or for quality assurancetesting. If a lab is transitioning to a newmachine, for example, it can comparethe new machine’s reading of the storedsamples to their known results.In some states—and in many parents’

minds—the labs are presumed (or

required) to destroy the samples oncethey are done with them. This is notalways the case, however. Newbornblood spot samples are coveted by sci-entists studying the causes of childhooddisorders and a range of other epidemi-ological and population geneticsquestions. In some cases, such as stud-ies on diseases that are fatal for infants,these blood spots may be essentially theonly source of samples available toresearchers looking for a cure. So, ratherthan throwing away a perfectly goodsample, states are often permitted to cat-alogue the blood spots, assign a code inplace of the child’s identity, and send thecards to a storage facility. The samplescan pile up quickly; Texas’ biobank grewto over 5 million newborn blood spotsamples by 2010. These biobanks are created with

infants’ health in mind, but many alsoallow researchers to request samples,and some can even sell samples to pri-vate companies. For example, a medicalresearcher or a pharmaceutical companymight ask for samples marked as female,Asian, and positive for PKU. Thebiobank would send blood cards to theresearcher or company, including gen-eral medical and demographicinformation, but no personal identi-fiers—save for the code assigned to thesample. Labs use de-identification toprevent recipients of samples fromaccessing personal information aboutthe original donor while retaining thatpossibility for the state, which keeps thelist linking infants’ names with theirsample’s code number. In other typesof research biobanks, samples might befurther de-identified, with the labattempting to completely divorce the


From the Cradle to the Lab

Newborn blood spot screening saves thousands of infants’ lives each year ... but thosesamples don’t just disappear

BY SAMUEL W. ANDERSON

sample from the donor’s personal infor-mation. However, proponents point out,preserving that link makes it possibleto use the sample in a missing personcase or, perhaps, to retroactively solvethe mystery of a child’s death through a“metabolic autopsy.”The privacy concerns may not be

strictly theoretical. Some high-profileDNA databanks have run into problemsrecently. A laptop was stolen containingpersonal information of participants inthe world’s largest stem cell bank, theCord Blood Registry; New Zealand’snational DNA database investigated astaff member’s inappropriate disclosureof information from the database; anda thief made off with an NIH laptopholding the personal and medical infor-mation of 2,500 research participants.NIH also decided in 2009 to stop mak-ing subjects’ genomic data publiclyavailable online, after researchers at Ari-zona’s Translational Genomics Research

Institute demonstrated how to identifyindividual donors within large collec-tions of DNA profiles. A few yearsearlier, NIH Alzheimer’s researcher TreySunderland was revealed to have secretlysupplied the spinal fluid samples andclinical data of over 500 research partic-ipants to Pfizer in return for hundredsof thousands of dollars. Many parents—perhaps most—

would gladly agree to have their child’sde-identified sample included inresearch that could save lives. Not allstates are required to inform parentsthat their child’s sample may be kept andused for research, and parents are oftenasked to sign the consent form amidthe flurry of activity shortly after thechild is born. As a result, Green says,“People don’t really realize that theirkids’ blood spots are being stored andare potentially searchable.” Just how long are these samples

stored? In the absence of a federal stan-

dard, each state handles newborn bloodspot storage differently. Permitted reten-tion time ranges from less than a monthto “indefinitely.” In 2009, New Hamp-shire shortened the retention time from“indefinitely” to six months, while Maineremoved its five year limit in favor ofallowing indefinite storage of newbornblood spots. Since 2008, five states havechanged their rules to decrease reten-tion time and another seven haveincreased it.States differ just as widely in actual

storage practices. Iowa stores samplesfor one year at -80 degrees Celsius, thenfour years at room temperature; Utahkeeps the samples at room temperaturefor a week before cooling them to -20degrees Celsius. Mississippi keeps theblood spots in Ziploc bags in a freezer.Louisiana’s samples spend 30 days refrig-erated in “gas permeable bags.” Six statesdo not report having any written policyfor specimen storage and disposal.


In June 2006, Dr.Trey Sunderland,Chief of the NationalInstitutes of Health’sGeriatric PsychiatryBranch, invoked hisright not to testify ata Congressional hearing. Sunderlandstood accused of ethics violations, andwould later plead guilty to federalcharges, for secretly delivering spinalfluid samples from NIH freezers to Pfizerin return for nearly $600,000 in consult-ing and lecture fees. Sunderlandprovided Pfizer with not only the tissuesamples—3,000 in all, from 538 researchparticipants—but with associated clini-cal data as well.

Sunderland kept quiet at the Con-gressional hearings, but others didn’t:

“Today we look at how NIH protectsprecious assets, the human tissue sam-ples that are at the core of the agency’sresearch mission. Once again, afterextensive investigation, we have found

continued on page 17

deeper concerns regarding human tis-sue samples at NIH than first believed.Incredibly, we have found a lack of a cen-tralized database and oversight at NIHthat leaves NIH labs vulnerable to theftand abuse. We know from previousinvestigations that NIH has an inventorysystem for its property, but NIH tells us ithas no centralized inventory system thatcould tell the NIH Director how manyvials of tissue are in freezers at a particu-lar institute. It appears that the agencycan account for its paper clips betterthan its invaluable research material.”

—Rep. Joe Barton, R-Texas

“I am concerned that it appears asthough the NIH cannot account properlyfor human tissue samples in its posses-sion or for the data generated by the useof those samples in biomedical studies.

… What is most worrisome to me isthe abuse of patients’ trust. These peo-ple, victims of Alzheimer’s disease ortheir relatives, as well as some coura-geous individuals who have participatedin the control groups, have submittedperiodically for a decade or more to timeconsuming and painful spinal taps. They

believed that the decisions regardingthe use of these samples were made bythe best scientific judgment in the coun-try.

It is possible that only such anesteemed institution as the NIH couldhave enlisted these volunteers and con-vinced them to return again and againto give spinal fluid. Yet, we now knowthat some of these committed patientswere never told that the experimentsthat used their samples had beenaborted. Others were never given theresults of completed efforts. Nobody wasinformed that samples left over from cer-tain experiments were shipped from theNIH to private drug companies. Patientswere not informed that there was achance that their names, names thatwere supposed to be divorced from thesamples in the event of them being usedfor research, could be inadvertentlyrevealed. This did in fact occur when oneof the Sunderland shipments to Pfizerrevealed patient names to companyresearchers.”

—Rep. Diana DeGette, D-Colorado

The NIH’s Biobank Breach

Bernice Elger’s Ethical Issues ofHuman Genetic Databases is requiredreading for anyone seeking a practicalunderstanding of the intersection ofbiobanks and medical research ethics.Rather than a theoretical text, Elgeroffers a masterful survey of how actualmedico-legal institutions have(mis)handled research genetic data-bases. At the heart of her book is amethodical analysis of the various laws,regulations, and guidelines that havebeen drafted, enacted, or adopted bymany of the medical and commercialinstitutions that operate human geneticdatabases. As such, Ethical Issues ofHuman Genetic Databases is an adroitsynthesis of the institutional and pro-fessional discourses implicated byresearch biobanks.The traditional subjects of medical

research—and hence medical researchethics—have been human beings. Thishas given rise to an ethical frameworkgrounded on the principles of auton-omy, beneficence, non-maleficence,and justice. As matters of professional—as opposed to theoretical—ethics,these principals stand on their own asthe guiding lights of medical researchdecision making. In the case of geneticresearch databases, however, the sub-jects of research are no longer actualhuman beings, but instead dissociatedtissue samples or information extractedtherefrom. This distinction gives riseto the question that Elger’s text ulti-mately addresses: are traditionalmedical ethics adequate to mediatethese new research relationships?Elger’s answer to this organizing

question comes in three parts. The firsttraces the histories of several high-pro-file human genetic databases, includingthe Icelandic Health Sector Database,the U.K. Biobank, and the EstonianGene Bank Project. These narratives

highlight the principal ethical issuesraised by human research biobanks,namely: donor consent and privacy.The second part of Elger’s text exam-ines how the traditional axioms ofmedical research ethics have beenapplied to these thorny issues. Finally,the third act of Elger’s book takes acloser look at the issues themselves,exposing their confounding complex-ity but also suggesting how traditionalmedical research ethics might rise tomeet them.As a work of descriptive rather than

normative ethics, it is no criticism toobserve that Elger’s text lacks a coher-ent ethical theory. This admittedannoyance is merely a reflection ofdeontological predisposition of med-ical professional ethics—appropriatelycalled Principlism. Such sophisticquibbles with Principlism aside, Ethi-cal Issues of Human Genetic Databasesstands out as a challenging but invalu-able text to any student of bioethics.

Andrew D. Thibedeau, JD, is SeniorFellow with the Council for ResponsibleGenetics.


BY ANDREW D. THIBEDEAU

review

Ethical Issues of Human Genetic Data-bases, by Bernice Elger. Ashgate; 332pages.

National DNA databanks were initially estab-lished to catalogue the identities of violent criminalsand sex offenders. However, since the mid-1990s,forensic DNA databanks have in some casesexpanded to include people merely arrested,regardless of whether they've been charged or con-victed of a crime. The public is largely unawareof these changes and the advances that biotech-nology and forensic DNA science have madepossible. Yet many citizens are beginning to real-ize that the unfettered collection of DNA profilesmight compromise our basic freedoms and rights.

Two leading authors on medical ethics, sciencepolicy, and civil liberties take a hard look at howthe United States has balanced the use of DNAtechnology, particularly the use of DNA databanksin criminal justice, with the privacy rights of its citizenry.

Genetic Justice:DNA Data Banks, Criminal

Investigations, and Civil Liberties

Sheldon Krimsky is a founding memberof the CRG Board of Directors, Professor ofurban and environmental policy and plan-ning at Tufts University, and author of eightbooks and over 175 published essays andreviews.Tania Simoncelli is a former member ofthe CRG Board of Directors and ScienceAdvisor at the American Civil LibertiesUnion. She currently works for the U.S.Food and Drug Administration.

Did you find any attitude shifts afterthe passage of GINA?

No. In fact, the last time we did thisstudy was shortly after the passage ofGINA, and you would think that if at anypoint in time there would be an atti-tude shift it would be then; but therereally wasn’t. There was basically nochange. We were in the field collectingdata right after a media flurry, if you cancall it that, of information about GINA.Over a year later, we’re seeing nochanges. It’s been basically flat at about18 to 16 percent since 2006.

Is that eighteen to sixteen percent say-ing that they are aware of laws thatprotect their privacy?

Absolutely. We ask, “as far as youknow, are there any laws that currentlyprotect the privacy of your genetic infor-mation?” There wasn’t a law when weasked this in 2006, and 18 percent ofpeople said yes. Fast forward to 2010, ayear and a half after the passage ofGINA, and it’s at about 16 percent.Absolutely no increase.

Has there been any shift in terms ofhow different demographics areanswering?

No, it’s basically the same folks. Itwas pretty much across the board interms of who was aware and who was-n’t aware.

There isn’t some subset that is morelikely to know about GINA?

There are some differences by demo-graphic characteristics, but they are


A study released in January found thatAmericans are more concerned than everabout their genetic privacy, even after thepassage of the Genetic InformationNondiscrimination Act (GINA). The sur-vey was the fifth Cogent Genomics,Attitudes & Trends study (CGAT), arecurring study conducted by CogentResearch, Cambridge, Massachusetts.Christy White is a Principal at CogentResearch.

What was the original impetus forthese studies?

Ironically enough, I think it was anarticle that was written in the Timesabout Bill Gates, of all people. Hewanted to create software that wouldhelp people manage their genetic infor-mation. It was in the very early stagesand there wasn’t a lot of talk about it, butfrom the article you could really see thatthis was going to change medicine. Itwas very exciting and interesting—andactually a sort of apropos story. Here weare five or six years later, and fromAmericans’ perspective, they don’t feelthat a lot has changed. They’re not reallyaware of some of the advancements thathave been made and some of the successstories out there, partly because they aresort of few and far between when itcomes to the application of genomics. Ithas yet to really impact Americans, andfrom the data that we have, it appearsthat they are a little bit hesitant aboutgetting genetic testing. They can see thepromise and are very interested, but onthe other hand, they say, “That’s kind ofa scary prospect, getting my geneticinformation, having it be in my medicalrecord, and then not knowing whomight get access to that information.”

Genetic Privacy Worries on the Rise

A new report suggests consumers are warier than ever of their genetic privacy—and it’simpacting their decisions about getting genetic tests

INTERVIEW WITH CHRISTY WHITE, COGENT RESEARCH

What should happen toyour DNA sample afterthe test is complete?

Destroy the sample

Retain the DNA sample forfuture tests of your choosing

All survey data and charts courtesy of CogentResearch, Cogent Genomics Attitudes &

Trends Study (CGAT) 2010 TM

57% 43%

minor. Slightly more Americans with agraduate or professional level educationare aware of GINA (25%) compared tothose with less education (15%). Addi-tionally, Americans aged 18 to 34 aremore likely to be aware than those over55 (18% vs. 11%).

One especially surprising finding isthat 81 percent of physicians said theyweren’t familiar with GINA.

Then there was the story about the over-the-counter genetic test that was goingto be sold in drugstores and was pulledoff the shelves. People either heard noth-ing or they didn’t hear anything great.I think the other big reality, though,

is that you’re looking at pre-recessionand post-recession numbers. There area couple of questions in here where yousee stress popping up. There is anincrease in the number of people whosay it would be too depressing to havethis information, and that they would beconcerned about sharing it with theirfamily members, particularly if theycouldn’t do anything about it. So I think

pre-recession, people were saying “Sure,bring it on, tell me what I can do, I wantto be proactive.” I think now people aresaying, “I’ve got a lot on my plate, and Idon’t necessarily need to get informa-tion —particularly if I can’t act on it.”So we saw the stress factor popping up.

One of the stated purposes of theCGAT is to explore the barriers andcatalysts to adoption of genomics-based medicine. Are you finding thatthe barriers and the catalysts arechanging?

One of the things that we did see isthat more people were citing benefitsrelated to the ability to prevent disease.A few were citing benefits in terms oftreatment and cures. In terms of barriers, I mentioned

That was really kind of shocking. Weknow because we do a lot of work amongphysicians that even when you ask themabout advancements related to, say, clin-ical trials, you’d be shocked at how someof them won’t even be up to date on clin-ical trial data that affects the area thatthey are responsible for. But they haveso much that they have to keep abreastof, and they are trying to prioritize theknowledge that they can act on today.

Do you think some of the publicityabout GINA might have contributedto people being more skepticalbecause it exposed people to concernsthey might not have thought about

before?

I think what happened was a lack ofinformation. One of the questions thatwe ask is “where have you heard or seeninformation recently?” In 2008, 55% ofAmericans said that they had heardsomething on a television aboutgenomics, and this year it dropped downto 39%. We saw a similar drop in news-paper and magazines: in 2008, 39% ofpeople said they had read a newspaperor magazine article about genomics, andthis year we only had 27%. In this case, no information isn’t

good information. I would agree withyou, though, that some of the stuff thatis out there about genomics is not nec-essarily favorable. There was thatbook—The Immortal Life of HenriettaLacks—which made the bestseller’s list.


emotional stress, which jumped from14% in 2006 to 23% in 2010. And inter-estingly, moral concerns have declinedfrom 13% down to 6%.The emotional stress could be com-

ing from having information you can’tact on, having information you can’tafford to act on, or being concerned thatthe information may get outside of yourcontrol and be used in ways that you did-n’t authorize.

The other major barrier being privacyconcerns, then, especially amongthose who aren’t aware of GINA?

We ask folks “If you were assured bylaw that no one could access your infor-mation, would you be more or lessinterested?” And actually 64% of thepeople who were unaware of the protec-tions said that they would be moreinterested, and 34% of them said theywould be much more interested.

Do you think that educating peopleabout GINA would qualify as thatassurance?

That’s a great question. I think that itcertainly couldn’t hurt, because todaypeople are completely unaware of it, andthere are some good protections in thatlaw. I don’t know if you pick up the entire64% because some people may just say,“I don’t believe it,” or “it’s not rigorousenough.”I think it’s kind of ironic, too, that

SACGHS (Secretary's Advisory Com-mittee on Genetics, Health, and Society)just disbanded, with the notion that theyhad accomplished their goals when theygot GINA passed; and I think that maybethey stopped short of the second pieceof that, which was to make sure that peo-ple were aware that they are protected.It’s great that people are protected, butit would be even better if they wereaware of that. This lack of awareness is not good for

industry, it’s not good for the economy,and it’s not good for public health, in thelong run, if you believe in genomics.

As far as you know, are there laws that currently protect the privacy of your genetic

information?

YesNoDon’t know

2006 2008 2010

70% 77% 77%

12% 8% 8%18% 16% 16%

It doesn’t appear that the govern-ment is going to do any sort ofbroad-based consumer education work.They really haven’t done anything to getthe word out about GINA and it does-n’t appear that they are going to. So oneof our points is that someone needs totake up the gauntlet; and it’s in indus-try’s best interest, really, to do that.

How would you like to see industry goabout that?

I think that if industry were to spendmore time educating physicians, we

could get the word out that physiciansare prepared, they’re ready to talk to youabout genomics, they understand it, andthis can really make a difference in yourquality of life and longevity. But indus-try needs to take seriously the fact thatphysicians are in need of education.Only 17% of Americans believe that

their physician is up to date and knowl-edgeable on genomics. That’s a paltrynumber. Only 20% think that physicianscan talk about genomics in a way theycan understand, and only a third thinkphysicians would take the time even if

they could do it. And elsewhere in thisdata, only 4% of respondents had talkedto their doctor about genomics. Therearen’t a lot of these conversations goingon right now.

If you were to have to predict whatmight change next year, do you see anycontinuation of these trends?

I think that unless there is more com-munication about protections and someof the exciting stuff going on, I think it’sgoing to continue. I think there will befurther deterioration.


At least 20 states have made signif-icant changes to their newborn bloodspot storage policies within the pastthree years, but even if you live in oneof these states, chances are you haven’theard anything about it. For that mat-ter, chances are you haven’t heard aboutyour state’s blood spot storage programat all.This may often be by design on the

part of state labs. Researchers andadministrators working with thesesamples know very well how alarmingnewborn blood spot biobanking cansound to the layperson, particularlywhen inserted into the 24-hour mediacycle—as by a February 2010 CNNstory on the Minnesota case, titled“The Government Has Your Baby’sDNA.”One could see, then, why clinicians,

researchers and state labs would preferthese projects to keep a low profile.“Those involved with newborn screen-ing are concerned that additionalpublicity may cause parents to refuseto participate in newborn screening,which would then put children at risk.So there may have been a tendency tomoderate publicity on this matter,”Green says. “But at this point, it’s prob-ably too late for that.”The Texas Department of State

Health Services tried that approach,

and it came back to haunt them. Inter-nal memos indicate that when theagency was preparing to start makingtheir store of newborn blood spots avail-able to researchers in 2003, officialsacknowledged that parents “never con-sented for blood spots to be used forresearch,” but decided to sidestep theissue. When the agency contracted withTexas A&M to warehouse the rapidlygrowing collection, DSHS specificallyasked the university not to publicize thepartnership. “This makes me nervous,”one official wrote. “A press release wouldmost likely only generate negative pub-licity.” Word got out eventually, though,and the investigative pieces published inthe Texas Tribune certainly did gener-ate negative publicity. With the help ofthe Texas Civil Rights Project, a groupof parents took the state to court. DSHSsettled quickly, agreeing to destroy over5 million newborn blood spot samplesit had stored and made available to out-side parties without parental consent.That outcome didn’t sit well with

many researchers, Green among them.“That, to me, was a tragedy. There istremendous value for the laboratory andsociety from having a population-basedrecord of all these samples. At the veryleast, laboratories need to be able toquality control the tests they’re doing.”Green has plenty of reservations

about the way some research biobankshandle their business; but when it comesto newborn bloodspot screening andstorage, he sees many of the privacy con-cerns as missing the point, focusing ontheoretical problems without givingenough weight to the concrete bene-fits. If you’re caught up on the privacyconcerns, “Come to metabolic clinic andsee these badly damaged children andwhat the families have to deal with” hesays. “The newborn screening programsin this country are one of the great suc-cesses of modern public health.”Can we assume newborn blood spot

banks are insulated from privacy issues?Many parents—perhaps most parents—know little about where their child’ssample will end up; what happens whenthey learn of it by way of a scandal? Askthe health department in Texas. In thewords of Sharon Terry, President ofGenetic Alliance, if newborn blood spotcollection and research is “done well anddone right, there will be an enormousbenefit overall to the system.” In Texas,there’s a good chance they’ll tell you thatdoing it well—and doing it right—startswith informed parental consent.

Samuel W. Anderson is Editor ofGeneWatch.

continued from page 13


couple of mouse clicks away. Contro-versies never considered plausible adecade ago are now taking center stagein courtrooms and the court of publicopinion.In response to these emerging

trends we have set forth in an effortto give voice to the concerns of ordi-nary citizens. These facts havecompelled us to introduce a bill in thenew legislative session on Beacon Hill,called the Massachusetts Genetic Billof Rights.Key elements of our legislative

package include:

Defining genetic information andmaterial as personal property

While it may be obvious that mate-rial harvested from an individualshould be subject to their expressedwishes with respect to its use, in factthis is an unsettled question of law inmany quarters. By expressly statingthat an individual may assert domin-ion over genetic information andmaterial, it allows individuals to makereasonable provisions for this samematerial’s maintenance, inheritanceand divisibility, should the need everarise.

Prohibiting the use of genetic infor-mation and material in establishingcredit-worthiness

The same financial regulationswhich led to the mortgage mess,

Gramm-Leach-Bliley, named a wholeseries of financial institutions asauthorized users of an individual’s per-sonal health information. Theseinclude: banks, mortgage companies,credit unions, holdings firms, andinvestment houses, among many oth-ers. Our proposed measure expresslyprohibits these financial institutionsfrom using genetic information andmaterial in setting loan rates as part oftheir lending practices.

Ending discrimination in accessinglife insurance coverages

Currently, life insurers can stop anindividual from purchasing a policybased on their genetic make-up. Thatis to say, a person who is a carrier fora genetic condition which may notphysically present for more than halfa century could be barred from access-ing coverage based on the likelihoodthat this condition will eventually pres-ent. Denying an individual theopportunity to purchase life insuranceis discriminatory. Insurance policiesare public accommodations just likea mortgage. Also, life insurance poli-cies are sold across state lines, and assuch they are subject to the commerceclause. The Massachusetts bill recog-

In the lead up to the passage of aGINA, the Genetic Information Non-Discrimination Act in 2008, severalstates passed their own statutesaddressing genetic bias in employmentand health insurance. This process wasgreatly helped by the leadership oforganizations like the Council forResponsible Genetics and the role itplayed in forming the Coalition forGenetic Fairness. Through the workCRG and the coalition mounted, theMassachusetts Legislature passedwhat was at the time landmark civilrights legislation in 2000.A decade removed from that vic-

tory, the pace of innovation and the lagamong public policy officials compelsus to return to Beacon Hill in an effortto lock in and affirm these earlier suc-cesses. As such, the Forum on GeneticEquity was formed as a way to engagein advocacy in furtherance of a pro-consumer vision which affirms theright of individuals to control of theirgenetic information and material whileworking to end all forms of discrimi-nation based on one’s own geneticprofile.Without question the science has

sped past policy and opinion leaders.In the decade since Massachusettscompleted its Genetic Privacy bill, wehave seen the complete mapping of theHuman Genome. Changes in technol-ogy have made DNA testing relativelyinexpensive, and a renewed emphasison digitizing medical records meanstransfer of the information is only a

Re-lighting the BeaconA lot has happened in the decade since Massachusettspassed its genetic privacy bill. The MassachusettsGenetic Bill of Rights looks to address new issues - andspark a national conversation

BY STEVE MAY


nizes that everyone is entitled to con-tract for services based on their ownunique life circumstances.

Preventing the use of genetic infor-mation in insurance underwriting

GINA stopped health insurersfrom using genetic information andmaterial in rendering and withdraw-ing medical care. This proposal buildson GINA’s earlier success by extend-ing this principle to other insuranceproducts like life, auto, disability andlong-term care.

Defining the misappropriation ofgenetic information and material asa form of identity theft

Nothing is more integral to theessence of one’s self than our geneticmake-up. This provision recognizesthat our genetic information andmaterial should, as a matter of law, beon an equal footing with informationlike our social security number underMassachusetts law.

Criminalize data trafficking andgenetic profiling

The proposal we are forwardingallows researchers to continue impor-

tant research by guaranteeing a path-way to innovation and access toanonymized patient histories. Sincethe mapping of the Human Genomethese histories have been the subjectof efforts to reattach individual demo-graphic information, which can thenbe sold, licensed and transferred. Oncethis information has been clawed back,drug manufacturers have been pur-chasing this information for use as partof their routine marketing efforts.Increasingly this information is beingused by banks and insurers to informtheir on-going business operations.Our effort prohibits a MA companyfrom engaging in these practices andcreates an avenue for legal actionshould these actors target people inMA.

Recognize people with a geneticmarker as a class of persons underthe Massachusetts Civil Rights Act

Not unlike people with HIV orAIDS, the Genetic Bill of Rights rec-ognizes that people with a geneticpredisposition need to be protected inaccess to public accommodations;housing, and workers compensation.

Obligating any entity which usesgenetic material as an element ina good or service to abide by theCLIA standards

We believe the increase in thenumber and scope of commercialentities which are using genetic infor-mation or material, as a significantelement in the sale or license of aproduct, good or service calls out forthe regulation of providers of directto consumer genetic products. Anyentity which handles genetic materialas part of its routine business opera-tion should be subject to the FDA’sclinical laboratory guidelines. Asmore and more products promise to

be able to distill one’s family historyfrom a DNA swab, or creates a pieceof art based on a mapping of one’sgenetic material; it will be increasinglynecessary to increase regulatory over-sight to assure that these ventures arenot seeking to circumvent the law inorder to traffic in genetic profiles.

A decade ago, when Massachusettsand other states were advocating fora Genetic Privacy bill, CRG was inti-mately involved in the bill’s creationand eventual passage. Work by organ-izations like CRG at the state level paidbig dividends in the lead up to Fed-eral action. Ultimately bills passed atthe state level paved the way forGINA’s eventual passage. Workingagain in state houses around the coun-try could provide critical momentumtowards some future action.The Massachusetts effort is a crit-

ical first step towards launching anational conversation about geneticinformation and genetic material. The2000 Massachusetts bill created aplace to start from with regard to aframework for deepening and broad-ening individual privacy rights whilesafeguarding genetic information andmaterials. Our initiative is bigger thana single state. If we are to create thechanges necessary to create a new con-sensus around these emerging humanrights concerns we will need to engagewherever and whenever opportunitypresents itself. We believe that thepublic is prepared to enter a nationalconversation about these concerns andthe Forum is prepared to facilitate thatengagement through on-going effortsaround the country.

For more information about theForum on Genetic Equity please viewits website: www.GeneticEquity.org.

Steve May is Executive Director of theForum on Genetic Equity.

Reproduced with the permission of theAGRA Watch project of the Commu-nity Alliance for Global Justice, Seattle(www.seattleglobaljustice.org/agra-watch)

At the end of January, the Animaland Plant Health Inspection Service(APHIS) unit of the US Department ofAgriculture announced that it wouldfully deregulate the planting of GEalfalfa, despite its EnvironmentalImpact Statement (EIS) conclusionthat such a course of action might leadto genetic contamination. To manyobservers, this appears to be in directcontravention to its obligations underlaw and court decisions.In response to a law suit brought by

the Center for Food Safety, a 2007 trialjudge found that the Department hadnot done a proper EIS; included wasa finding that

alfalfa farmers had established a rea-sonable probability that theirconventional alfalfa crops would becontaminated with the engineeredRoundup Ready gene if USDA wereallowed to fully de-regulate GE alfalfa.The decision recognized that the sub-stantial risk of such contamination wasdamage which would support a legalaction, and the judge issued an orderprohibiting the planting or deregula-tion of genetically engineered alfalfa.It directed the USDA to do a completeEIS and to adopt a course of actionwhich would minimize injuries. TheSupreme Court in 2010 overturned theplanting ban, but did not restore theDepartment’s approval of GE alfalfa;thus, planting was still not legallyallowable.Congress held two hearings in

2010, in which the agency was criti-cized for these failures,and over 200,000 citi-zen comments werefiled, mostly

objecting to the Department’s plans.The Department’s final environ-

mental review, issued on Dec. 23,2010, again concludes, in effect, thatthere will be no substantial harm frombiotech alfalfa! As a part of this envi-ronmental impact analysis, USDAproposed three options for action: 1)No deregulation of GE alfalfa; 2) com-plete deregulation of GE alfalfa; or 3)partial deregulation of alfalfa with cer-tain government mandated measuresto segregate GE production fromorganic production. Under NEPA thepublic is granted a 30-day period ofpublic review, which ended in late Jan-uary. It was clear that the Departmentwould reject option (1), since no GEcrops have been subjected to regula-tion.Most critics believed that USDA

would seek “partial de-regulation,”including mandatory conditions suchas prohibiting the planting of GEalfalfa in certain parts of the country,and establishing buffer zones between


GM Alfalfa: An Uncalculated RiskThe U.S. Department of Agriculture plans to fully deregulate Monsanto’s geneticallymodified alfalfa. But with the first planting fast approaching, it remains unclear why weneed Roundup Ready alfalfa in the first place

BY PHILIP BEREANO

GE and organic production sites. Thiswould, in reality, allow contamination.And contamination has long been anindustry-government strategy for forc-ing acceptance of GE. (As EmmySimmons, assistant administrator ofthe U.S. Agency for InternationalDevelopment, said to me after thecameras stopped rolling on a vigorousdebate we had on South Africa TV in2002, “In four years, enough GE cropswill have been planted in South Africathat the pollen will have contaminatedthe entire continent.”)There is no such concept in US law

as “partial de-regulation.” Either thecrop is regulated—according to anassessment in a full EnvironmentalImpact Statement as ordered by theCourt—or it is not. As the agency itselfnotes, “The supplemental request thatAPHIS received from Monsanto/KWSdid not clearly explain what the peti-tioners mean or envision by a ‘partialderegulation.’” In other words, thiswould have been a wholly ad-hoc andfictitious approach to fulfilling theagency’s regulatory responsibilities.“Partial de-regulation” is a faulty

and misleading concept as regards theecology of bioengineered plants. Itdoes not prevent any of the potentialharms from GE crops but seems tosuggest that on a small enough scalethey are tolerable. Tolerable to whom?Small environmental perturbationscan lead to large impacts. In interna-tional meetings the US repeatedly saysit supports “sound science” as the basisfor regulation; the proceeding illus-trates just how farcical such claimsactually are, since there is no sciencesupporting a notion of “partial de-reg-ulation”.Apparently this “partial” proposal

ran into considerable opposition inCongress and from some farm groupsand biotechnology companies.Claiming that the introduction ofrestrictions based on economic con-

sequences of pollen drift “politicizesthe regulatory process and goesbeyond your statutory authority,” Rep-resentative Frank D. Lucas, Republicanof Oklahoma, the new GOP chair ofthe House Agriculture Committeewrote to Secretary Vilsack on Jan. 19,and held a hearing on the proposalsthe next day. The letter was co-signedby Republican Senators Saxby Cham-bliss of Georgia and Pat Roberts ofKansas. Of course, an EIS is supposedto look at economic consequences ofmajor federal actions, but it may be toomuch to expect these legislators toknow what the law requires. Instead,they argued against any restrictionssince the Department’s environmen-tal impact statement had concludedthat growing GE alfalfa would be OK.They seem to have won, at least fornow.Restricting the growing of alfalfa

would undermine Washington’srepeated position at internationalmeetings that GE is completely safeand would run counter to its efforts topressure other countries to acceptgenetically modified crops. And theObama White House is not going toalter its business-friendly policies—according to Maureen Dowd in the NYTimes (Jan 30, 2011), chief advisorDavid Axelrod recently punned thateveryone should “’plow forward’ on aplan for genetically produced alfalfa.”The press has depicted the debate

over GM alfalfa as biotech vs. organicbut in reality organic is a small per-centage of the alfalfa productionsegment that is threatened by theintroduction of GM alfalfa (it is usedas feed for cows whose milk is labeled“organic”). But conventional alfalfa isalso threatened. Alfalfa seed compa-nies have huge export markets toGMO-sensitive regions such as theEU, Middle East, and Asia, particularlyJapan and they don’t want to jeopard-ize those markets. Two of the plaintiffs

in the alfalfa suit are conventionalalfalfa seed companies. Secretary Vil-sack and the USDA have proposed aplan for the “coexistence” of GMOsalongside organic and conventionalcrops. Unfortunately this will result ingenetic contamination.The EIS inadequately assessed the

likelihood of contamination injuriesand the need for redress (if not, indeed,prevention). Over 200 past contami-nation episodes have cost farmershundreds of millions of dollars in lostsales, not always compensated by cropdevelopers. (It is interesting to notethat the 160 members of the CartagenaBiosafety Protocol—which does notinclude the US—agreed a few monthsago to a treaty to redress such damagesif they occur internationally.)The EIS misrepresented the situa-

tion regarding the inevitable increasein herbicidal chemicals, perhaps up to23 million pounds per year. And itignored the likely increase in herbi-cide-resistant “superweeds,” alreadybecoming an important US agricul-tural concern. It used a short-term andshort-sighted approach.Although the final EIS noted risks

to organic and conventional farmers (concerns surrounding purity andaccess to non-GE seed), the decisionstill places the entire burden for pre-venting contamination on non-GEfarmers, with no protections for foodproducers, consumers and exporters.The USDA must take a more proactiverole to ensure that these risks are min-imalized and that they are not thrownon innocent third parties. “We appre-ciate the measures that the Secretaryhas announced to explore ways todevelop the science to protect organicand other non-GE alfalfa farmers fromcontamination. However, to institutethese measures after the GE alfalfa isderegulated defies commonsense,” saidMichael Sligh, founding member ofthe National Organics Coalition. “


Logically, efforts to develop the scienceof preventing GMO contaminationshould precede, not follow, any deci-sion to deregulate GE crops.”The underlying problem in this

proceeding is that APHIS refuses tofollow full risk assessment proceduresestablished for GE food plants, such asthose specified in the UN’s Codex Ali-mentarius (although the US was oneof the 168 countries which approvedtheir adoption at the meeting of theCodex Commission about a decadeago). Nor would it accord with thenorms of the Cartagena Protocol onBiosafety (which the US has notadopted, but are followed by 170 othercountries). Too often, APHIS hasrelied on information and analysesprovided by the industry, as a rubberstamp, without any independentassessment of its own—an actual situ-ation of industry “self-regulation”which has been repeatedly (in all areasof environmental and consumer con-cern) shown to be a farce.There have been about 200 inci-

dents of GE crops contaminatingnon-GE produce, resulting in hun-dreds of millions (if not billions) ofdollars in damages; contamination is

a real risk and one of very significantmagnitude. Indeed, the trial court inthe original lawsuit found that con-tamination by GE alfalfa has alreadyoccurred. Thus, the Department can-not dismiss it as insignificant or reston Monsanto’s assurances that itspractices render contaminationunlikely. (Monsanto’s documented his-tory of lying to governmental bodiesand distorting evidence in submissionsreduces its credibility to nil, anyway.)APHIS must surely be aware that

the US government’s definition of“organic” (by the USDA) contains nothreshold for the presence of GE con-tamination. More than a quarter of amillion commentators vigorouslyobjected to the original version of therule which would have allowed GEcomponents in “organic” foods.APHIS must proceed in a mannerwhich guarantees that contaminationwill not occur, even if this means deny-ing permission to plant GE alfalfa.Contamination by GE alfalfa violatesthe basic tort ideas of nuisance andtrespass (although most farmers arenot economically able to challenge agiant corporation such as Monsanto).The Department suggests that con-

sumers will forgive unintentional con-tamination, but intention is irrelevantto the National Organic Standards andto the protection of human health.Consumers have a legal right todemand that products live up to theirlabeling. Additionally, the claim thatconsumers will forgive unintentionalcontamination is unsubstantiated.Most surveys of US consumers indi-cate that they want to know that theirfood is free of any kind of contamina-tion; further, most surveys point outthe vast majority of US consumers donot want to have unlabeled GE food intheir grocery stores.The Center for Food Safety is re-

commencing the litigation. Hopefully,the court will enjoin any planting thisspring, so that contamination doesn’tlead to a fait accompli and the insidi-ous presence of more GE in our foodsupply—untested for its effects onhuman health and the environment. Philip Bereano is a co-founder ofAGRA Watch, the Washington Biotech-nology Action Council and the Councilfor Responsible Genetics.


GeneWatch Anniversary Archive: 1983-2008

The Council for Responsible Genetics was founded in 1983 to provide commentary and pub-lic interest perspectives on social and ecological developments of biotechnology and medicalgenetics. For a quarter of a century, the Council has continued to publish its magazineGeneWatch with articles by leading scientists, activists, science writers, and public healthadvocates. The collection of GeneWatch articles provides a unique historical lens into themodern history, contested science, ethics and politics of genetic technologies. The full archiveof GeneWatch has been incorporated into this special anniversary DVD that includes an indexof all the authors and titles.

Copies of the anniversary DVD are available for a $100 donation to:Anniversary CRG DVDCouncil for Responsible Genetics5 Upland Rd., Suite 3Cambridge, MA 02140

25 Years of GeneWatch

The Food and Drug Administra-tion's Molecular and Clinical GeneticsAdvisory Panel held a two day hearingon March 8th and 9th to discuss theregulation of direct-to-consumergenetic testing companies (DTC).These companies offer individuals theopportunity to discover if theirgenomes possess SNPs, and in somecases known Mendelian variants asso-ciated with disease and cancer risk,nutrient metabolism, drug responseand metabolism, and recessive car-rier states among others. They furtheroffer risk assessment services, whichlook at several genes simultaneouslyto give probabilities of disease devel-opment over one’s lifetime, and offerdiet and lifestyle recommendations onthe basis of these genetic test results.Most of these tests look for com-

mon disease variants, such as thoselinked to heart disease, and do notconsider family history and environ-ment which many argue are still bettercurrent predictors of disease.The hearing followed a substan-

tial amount of agency activity lastsummer, when the FDA held a simi-lar hearing on DTC, followed by aCongressional hearing where the Gen-eral Accounting Office released areport seriously questioning the accu-racy of DTC testing and the marketingmethods of several DTC companies.The Panel heard testimony from a

wide variety of experts and interestedparties including DTC genetic testingcompany representatives from23andMe and deCode Genetics. Thereappeared to be signficant distancebetween industry supporters and crit-ics regarding their belief in theaccuracy of such testing services. FDAstaff presented findings that ques-

tioned how DTC companies con-ducted their statistical analyses as wellas offering a tutorial on how differenttypes of medical tests are currentlyregulated.Advocates for DTC insisted that

everone has a right to access theirgenome and have a better informedunderstanding of their health. FormerFDA official Mary Pendergast, whonow works as an adviser to some com-panies that seek to market genetictests, said that it was paternalistic torequire a qualified medical profes-sional to be involved in DTC testing."There is an alternative to this highlypaternalistic approach; that informa-tion in and of itself is not harmful," saidMs. Pendergast.CRG President Jeremy Gruber dis-

puted this characterization declaringthat:"the call for regulation of DTC

genetic testing is not some pater-nalistic denial of individual access toone’s own genome, nor some blindadherence to medical tradition. Webelieve everyone should have access totheir genome and be able to sequenceit if they choose. What we do feelstrongly about, however, is that peo-ple shouldn't be misled about thesignificance of that information andthat people should be able to beassured that the claims that are madeare accurate and that their privacy willbe protected."He further criticized current indus-

try practice and demanded meaningfulregulation:"(E)very player in the industry

makes both explicit and implicit claimsthat knowing your genetic informationwill demonstrably improve yourhealth; with few exceptions science is

still progressing towards being ableto make that case."Many on the Panel declared that

DTC testing was of little utility andoutright harmful without the involve-ment of a physician. "I want any testthat has a high predictor that a per-son will get a disease, I want thatfiltered through a physician," said pan-elist Valerie Ng, MD, PhD, apathologist at the University of SanFrancisco in Oakland, Calif."I would suggest that we are not

ready yet to put this completely in theconsumer's hands," said panelist JoannBoughman of the American Society ofHuman Genetics. "Each test is com-plex and when you have each providerdoing slightly different tests, it com-plicates it even more."While the FDA is not mandated to

follow the recommendations of thePanel, it usually gives such recommen-dations much deference. The agencydid make clear during the hearing thatregulation of DTC testing is inevitableand that the agency was fairly far alongin terms of thinking about the multi-ple issues implicated in DTCregulation.Alberto Gutierrez, director of the

FDA's Office of In Vitro Diagnosticsstated "We're not going to be able totake one approach to all types of tests,"Gutierrez said. "Some may not requirea doctor at all and some might requirethat a qualified health professional beinvolved, and some might involve thedoctor to order the test."Gutierrez and other agency offi-

cials offered no additional details as towhat form regulation might take andwhat their timeline was for imple-menting it.


Direct-to-Consumer Genetic Testing Criticized at FDAHearing

topic update

Dr. James Evans, MD, PhD, is BrysonDistinguished Professor of Geneticsand Medicine at the University ofNorth Carolina School of Medicine. Heco-authored an article appearing in aFebruary issue of Science (vol. 331),titled “Deflating the Genomic Bubble,”warning against perpetrating unreal-istic expectations of genetic research.

What sort of response have youbeen getting to the Science article?

It’s interesting: I’ve received anumber of emails—especially fromsocial scientists, people who studybehavior and some epidemiologypeople—that were very laudatory intheir response. I have not had a lot ofreaction from the genetics andgenomics community, and can’t reallysay why that is.I must admit that I was frankly a

bit nervous about publishing this.What I worry about is that our mes-sage will be misconstrued as somekind of call to gut genomics research.That’s not at all what we were tryingto do. I hasten to add that I have notheard that response; but it worriedme, and still does to some extent.The reason I went ahead and pub-

lished it is that I feel that in the end,we really are all in the same business:we want to decrease human suffer-ing and disease. I think what thatmandates is that regardless of yourparticular turf, one has to try to belogical and fair as we think about allo-cating resources.The real impetus for this article

came when I was at a public healthand genomics meeting in England thisspring, and one of the presenters puta slide up that was from a Sciencepaper several years ago by WalterWillit. It was just a simple bar graphdemonstrating the large attributablecomponent of most common diseasesin the U.S. to behavior. It is absolutelystriking how important behavior is.And I got to thinking: I’m a hugebeliever in genomics. I’m a hugebooster of genomics and genomicresearch, and I firmly support theinvestment that’s being made ingenomics. But I do think that if ourultimate goal is to reduce disease, weneed to be doing more with regardto behavioral research, becausehuman behavior accounts for somuch human suffering.

Is the emphasis on genomics partlya matter of researchers talking uptheir own research?

Sure, and we explore that to someextent in our piece. I think there aremany things that contribute to, I guessit’s fair to say, overly optimistic expec-tations. And I think it’s fair to includethe natural and understandableenthusiasm of the “converted,” of sci-entists working on a particularproblem. I mean, we go into a fieldbecause we love it. Of course we’reenthusiastic!Secondly, there are certainly

tremendous pressures in regard topromotion and career advancementthat make one want to talk up one’s

field. The press is also certainly com-plicit, because they wantbreakthroughs; they want someone tosay “This is the greatest thing sincesliced bread!” as opposed to, perhaps,people who take a more sober andrealistic attitude.And I think, finally, part of the

blame rests at the feet of the poor sci-entific literacy and understanding ofthe general public. People do notunderstand—and we don’t do a goodenough job of emphasizing—theincremental nature of science; the factthat something like the humangenome project, while it will paytremendous dividends, is simplygoing to take a long time to pay off indramatic terms. People don’t have agood understanding of the way sci-ence works, and I think that alsocontributes to misinterpretations.

Can you think of any especiallyegregious overstatements, ingenomics or more generally?

Generally, a really nice exampleof this is gene therapy. When I was agenetic fellow, one saw rampant pre-dictions about how gene therapy wasgoing to revolutionize the treatmentof human disease. Predictably, thatdid not occur. We are now beginningto see real glimmers of utility andhope for its application, but it wasreally rather predictable that it wasgoing to take a long time and wasn’tgoing to revolutionize medicineovernight.You have to navigate a responsible


The Harm of HypeOverstating the immediate utility of genomics draws attention - andfunding - away from crucial genetics and behavioral research

INTERVIEW WITH JAMES EVANS

middle ground. You have to advocatethe fact that these advances are goingto be important; they are ultimatelygoing to be of benefit, but that weshouldn’t expect them to be revolu-tionary in the short term.There are very few technologies

that are truly revolutionary in thenear-term. Going back to 1895, whenWilhelm Röntgen discovered X-rays,that had immediate revolutionary andpractical benefits in medicine. Andthe discovery of antibiotics—well, thediscovery of antibiotics in some waysactually makes my point. WhenAlexander Fleming discovered peni-cillin, it was many years before thatdiscovery in the Petri dish on his win-dowsill actually became practical inits application. Science is incremental. It’s slow.

And if we fail to recognize that, werun the risk of a backlash that not onlydisappoints people, but hurts our fieldin the long run.

There has been an upswing in talkabout advancements in genomicsbecause of the ten year anniversaryof sequencing the human genome.Are there any big successes from thehuman genome project with near-term benefits that you think areworth talking about?

I think that there are near-termbenefits, as we articulate in the arti-cle. Firstly, we are already beginningto see certain specific applications inthe realm of pharmacogenomics thatwill improve medical treatment. Andthat’s a big deal. As we say, pharma-cogenomics is not going to guide theuse of every drug, but is going to bea near-term success with some.Number two, I think that the tai-

loring of cancer therapy based ontumor expression and mutationalanalysis will likely be a near-term suc-cess. We’re already seeing someclinical utility to such expressionanalyses, and that was certainly an

outgrowth of the genome project.Also, I’m quite convinced that

diagnosis of genetic disease—which,while individually rare, are not trivialin aggregate—will be revolutionizedin the near term by things like nextgeneration sequencing.Where I think the hype is just that,

and not justified, is in claims that fine-tuning an individual’s risk forcommon diseases will be clinicallymeaningful. I think this has beengrossly exaggerated and is basicallybased on a naïve view of how clinicalmedicine works. Fine-tuning individ-uals’ risk for common disease basedon genetics is unlikely to be signifi-cant for their care. And I think that while the applica-

tion of next generation sequencing

technology will be extremely impor-tant for the diagnosis of geneticdisease, I doubt that sequencing tech-nology will greatly advance ourtreatment and our management ofcommon diseases anytime soon, forthe very simple reason that commondiseases have many etiologies ofwhich genetics is only one, usuallyfairly minor, component.

You mention in the article the needto revisit funding priorities. Howimbalanced, currently, is fundingfor genomics versus, say, behavioralresearch?

As a geneticist, as a scientist, andas a doctor, what I would argue to thepeople who make those funding deci-sions is that we should not cannibalizeone particular field—especially one

like genomics, that is promising andin which great progress is being made.We need to expand the pie instead ofcutting it up more finely, and it seemsto me that we definitely need to sup-port behavioral research so we canfigure out better ways of changinghuman behavior, which is so impor-tant in disease.I can’t really give you a quantita-

tive figure for what the proportionsshould be, but my bottom line wouldbe that behavioral research demandsmore investment. I would also addthat we can’t rigidly tie funding of sci-entific endeavors to some simpleequation that, for example, correlatesdirectly with burden of disease; sci-ence is always a question of what isdoable and what is tractable. While

there are questions that we may wantto answer, the reality is that there isonly a subset of questions we cananswer, and we do need to addressthose.Science is quirky and idiosyncratic

in its trajectory. We have to be cog-nizant of that, and that’s why it is veryimportant for the public to under-stand that we do need to fund thingsthat don’t necessarily have immedi-ate, obvious benefits. We can’t go theother way, either, and not pay suffi-cient attention to where our majorpractical problems lie. It’s a verynuanced set of decisions, and unfor-tunately, with the current state ofscience literacy in the population andprobably in policy circles, I thinknuanced decisions like that are difficult.


Science is incremental.If we fail to recognize that, we run the risk of a backlash that not only disappoints people,

but hurts our field in the long run.

Henry T. Greely, p. (4)

1. Susan Brown Trinidad et al., Genomicresearch and wide data sharing: Views ofprospective participants,GENET.MED.12:486-495 (2010)

2. Henry T. Greely, The Uneasy Ethical andLegal Underpinnings of Large-Scale GenomicBiobanks, ANNUAL REVIEW OFGENOMICS AND HUMAN GENETICS,8:343-364 (2007)

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4. Henry T. Greely, From Nuremberg to theHuman Genome: The Rights of HumanResearch Participants in MEDICINE AFTERTHE HOLOCAUST: FROM THE MASTERRACE TO THE HUMAN GENOME ANDBEYOND 185-200 (ed. Sheldon Rubenfeld,Palgrave, New York 2010)

5. Henry T. Greely, To the Barricades! AMERI-CAN JOURNAL OF BIOETHICS, 10(9):1-2(2010)

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Endnotes

The Council for Responsible Genetics has launched a new blog:Genetic Watchdog. Watch for regular news and commentaryas recorded by CRG staff, board members, and friends, and jointhe discussion by leaving your own comments. You don’t haveto wait for the next GeneWatch to keep up with the latest eventsin biotechnology and ethics!

The blog can be found at: http://www.councilforresponsiblegenetics.org/Blog.


Senator Edward Kennedy once saidthat the mapping of the human genomewill "affect the 21st century as profoundlyas the invention of the computer or thesplitting of the atom affected the 20th cen-tury." Indeed, it's already hard to keep upwith the rush of information and opinioncoming out as the result of the rapidgrowth in genetic research and technol-ogy today. Even without our fully realizingit, genetic technology is entering almostevery area of our lives, from human healthand reproductive technologies to the crim-inal justice system. Genetic testing isbecoming mainstream and the opportu-nities to reveal genetic information aremultiplying. An individual's genetic infor-mation has incredible value in a host ofareas where invasions of privacy andpotential discrimination are present; it isboth highly identifiable and provides awindow into your health and even thehealth of your family members. Most consumers lack a proper under-

standing of genetics and it isn't hard to

understand why. To the degree that thepublic has any background in genetics, itis often distorted by everything from pop-ular culture to consumer advertising. Themedia regularly covers the latest genetic"breakthrough" and widely distributesexaggerated claims. The Internet offers lit-tle clarity; even consumers who want toseek a basic understanding of genetics and"Google" DNA will find approximately 143million and growing sources of informa-tion, along with 10 million for "geneticengineering" and almost 2 million for"DNA and altering." The consumer has even less under-

standing of the privacy threats involved inreleasing their DNA or other forms ofgenetic information from issues of acces-sibility to storage of genetic informationand their associated risks. The extremelyvaried legal and regulatory framework ofprotections in areas where genetic infor-mation is acquired poses significantadditional barriers to consumer under-standing. The consumer is highly unlikely

to fully appreciate the value of their geneticinformation and make informed decisionsabout its use. As a result, millions of peo-ple's privacy is regularly and oftenunknowingly compromised.

The Council for Responsible Genetics'Genetic Privacy Manual: Understandingthe Threats- Understanding Your Rightsis a comprehensive, electronic source ofinformation for the consumer on theseissues. The manual consists of five majorsections:1. Understanding the Threat 2. Understanding the Science3. Genetic Privacy and the Law4. Tips for Protecting Your Genetic Privacy

5. Additional ResourcesThe Council for Responsible Genetics'

Genetic Privacy Manual: Understandingthe Threats - Understanding Your Rightscan be accessed at: www.councilforre-sponsiblegenetics.org/geneticprivacy.

The Council for Responsible Genetics’ Genetic Privacy Manual

Understanding the Threats - Understanding Your Rights

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Documents

GeneWatch Vol. 24 No. 1