Concerns of Newborn Blood Screening Advisory Committee Members Regarding Storage and Use of Residual Newborn Screening Blood Spots

Concerns of Newborn Blood Screening Advisory CommitteeMembers Regarding Storage and Use of ResidualNewborn Screening Blood SpotsErin W. Rothwell, PhD, Rebecca A. Anderson, RN, BS, Matthew J. Burbank, PhD, Aaron J. Goldenberg, PhD, MPH,Michelle Huckaby Lewis, MD, JD, Louisa A. Stark, PhD, Bob Wong, PhD, and Jeffrey R. Botkin, MD, MPH

The operation of newborn blood screening(NBS) programs is a core state public healthservice.1 These programs collectively representthe largest application of genetic testing in theUnited States.2 NBS is critical for preventingsignificant morbidity and mortality by screeningalmost every baby born in the United Stateswithin the first few days of life. Blood obtainedfrom a heel stick is dried on filter paper toconduct testing for several conditions. States varysomewhat in testing procedures and conditionstargeted.

Cumulatively, state health departments re-ceive dried blood spots (DBSs) on filter paperfrom approximately 4 million newborns peryear. At the time of the heel stick, more blood isdrawn than may be necessary to complete theNBS tests, to ensure that there is sufficientblood available if reanalysis is needed, and tofacilitate quality assurance protocols. Conse-quently, if residual newborn DBSs were accu-mulated over time, almost the entire populationof children born in the United States wouldbe represented. The length of storage and se-condary research use of DBSs differ signifi-cantly by state and are of major concern withinthe state NBS programs.3

Residual DBSs historically have been usedfor quality control and evaluation of new testsin NBS programs. Quality assurance applica-tions of residual samples have not been con-troversial and are often considered authorizedas an integral component of NBS programs.Residual DBSs have been increasingly recog-nized as a valuable source for other biomedicalresearch uses outside the scope of the NBS. Forexample, residual DBSs have been used forinfectious disease epidemiology, genetic epide-miology, environmental agent epidemiology,birth defects studies, and population-basedstudies.4–7 However, the potential use of re-sidual DBSs for biomedical research unrelated to

NBS has raised several ethical, legal, and socialdilemmas among ethicists, public health officials,policymakers, and researchers.7,8

At the national level, the Secretary’s Advi-sory Committee on Heritable Disorders inNewborns and Children is developing policyrecommendations for storage and secondaryresearch use of DBSs.9 The American College ofMedical Genetics also has released a positionstatement on the importance of DBSs for bio-medical research.10 The development of statepublic health policy, however, occurs at the statelevel. Accordingly, state-specific concerns shouldbe addressed at the state level.

Policy developments at the state level havehistorically used advisory committees to pro-vide input, direction, and representativenessof various stakeholders and the public.11–14 In2000, an American Academy of Pediatrics taskforce developed a report to address policyconcerns raised by state NBS programs.11 Thereport included a recommendation that advisorycommittees should be established in each state

to provide guidance on policy developments inNBS programs.11 Involvement of advisory com-mittees with policy developments was also rec-ommended previously by the National Institutesof Health Task Force on Genetic Testing forPromoting Safe and Effective Genetic Testing inthe United States.12 The Council of RegionalGenetic Networks similarly recognized and val-ued the role of advisory committees and recom-mended that each state have at least 1 advisorycommittee that included health care profession-als, families, and the public.13

Recent lawsuits in Texas and Minnesota overthe storage and secondary use of DBSs haveincreased scrutiny of how DBSs are managedand of the roles advisory committees mightplay regarding this important issue.15,16 Becauseno research has been conducted on how advi-sory committees view this policy issue, weconvened focus groups with state NBS advisorycommittee members to ascertain attitudes andopinions regarding the storage and secondaryresearch use of DBSs. This research was

Objectives. We assessed attitudes and opinions of members of newborn blood

screening (NBS) advisory committees regarding the storage and secondary

research use of residual specimens from NBS.

Methods. We conducted focus groups in 2008 and 2009 with NBS advisory

committees (4 focus groups; n=39 participants) in the Mountain States region

(i.e., AZ, CO, MT, NM, NV, TX, UT, and WY).

Results. Participants identified several challenges to implementing policies for

storage of and research on residual newborn blood specimens. Themes that

emerged from the data were public health relevancy; improvement of parental

knowledge; impact of enhanced parental involvement; concerns over owner-

ship, privacy, and confidentiality; identification of secondary research uses; and

role of advisory committees.

Conclusions. Participants indicated that secondary uses of residual specimens

entailed opportunities for improvements in NBS programs but also carried

significant risks for their programs. Addressing concerns from stakeholders will

be necessary for state-level adoption of national recommendations. (Am J Public

Health. 2011;101:2111–2116. doi:10.2105/AJPH.2010.200485)

RESEARCH AND PRACTICE

November 2011, Vol 101, No. 11 | American Journal of Public Health Rothwell et al. | Peer Reviewed | Research and Practice | 2111

a component of a larger project aimed atpromoting public dialogue on the use ofresidual NBS samples for research fundedby the National Human Genome ResearchInstitute.

METHODS

We chose to conduct our research withNBS advisory committees in the MountainStates region of the United States (i.e., AZ, CO,MT, NM, NV, TX, UT, and WY),1of 7 regionalGenetic Service and Newborn Screening Re-gional Collaborative Groups established bythe Maternal and Child Health Bureau of theHealth Resources and Services Administration.The regional collaboratives were established toaddress the rapidly expanding and changingrole of NBS and the challenges associated withthese changes, such as geographic maldistri-bution of genetic specialist and subspecialistexpertise.17

An NBS status report indicated that all but2 states were required to have or did haveNBS advisory committees.18 We narrowed ourfocus to the Mountain States region collabo-rative because it contained a manageablenumber of programs for the methods of ourstudy, and the NBS status report indicatedthat all states in this region had establishedadvisory committees.18 All 8 of the states inthe Mountain States region were invited toparticipate, but only 4 states had activeadvisory committees at the time of our re-search. Our agreement with these commit-tees before beginning data collection wasthat our project would not identify responsesby state.

Focus Groups

Our 4 focus groups (n=39) comprisedmembers of 4 individual state advisory com-mittees. The meetings took place betweenNovember 2008 and June 2009 and lastedbetween 1 and 2 hours. The professionalcharacteristics of the participants are shown inTable 1.

A professional transcriptionist recorded andtranscribed the proceedings of the focusgroups. A member of the research team (ER)verified all transcription work. The focus groupformat followed recommendations by Kruegerand Casey regarding preparation, engaging

participants, and moderating the discussion.19

Before beginning the sessions, we provided anoverview of the research project to participants.We moderated the groups according to a semi-structured interview guide developed from ex-pert opinions and published literature. We askedparticipants to give their opinions as representa-tives of the advisory committee, and we probedfor clarification of their responses and furtherdetails.

We designed the questions to evoke con-versation, use words the participants would usewhen talking about these issues, be concise andopen ended, and follow a logical questioningroute.19 The questions were:

d What are your opinions on the storage ofresidual newborn samples for research use?

d What role do you think parents should playin the storage and use of residual newbornsamples?

d What role do you think the public shouldplay in how these samples are governed?

d What role do you see education playing inregard to the storage and use of residualnewborn samples?

d What do you think are some acceptable andunacceptable research uses for the residualsamples?

d What should be the role of the advisorycommittee in regard to the storage and use ofresidual newborn samples for research?

Data Analysis

We conducted a qualitative content analysisof the data from the focus groups. A distin-guishing feature of content analytic approachesis the use of a consistent set of codes to des-ignate data segments that contain similar ma-terial. We generated the codes by carefulreading and analysis of the transcripts ratherthan through automated search algorithms.After we compiled the template for coding,we systematically applied it to the data,adding additional codes as needed to capturecategories that were missed initially.20

After coding was complete, we summarizedthe codes and recontextualized the data toidentify patterns. During this process, we con-tinuously compared data among the groups.21

Further examination of the data to explain whypatterns occurred was a significant component tothe data analysis because it allowed a contextualand interpretative understanding of the phe-nomenon.22,23

We used ATLAS.ti version 6.2 (ATLAS.tiScientific Software Development GmbH, Berlin,Germany) to help analyze the data and to

TABLE 1—Professional Characteristics of Newborn Screening Advisory Committee

Members in Focus Groups Discussing Storage and Use of Residual Newborn Screening

Blood Spots: US Mountain States Region, 2008–2009

Characteristics

Group 1,

No.

Group 2,

No.

Group 3,

No.

Group 4,

No.

Total,

No.

Medical directors 2 1 3

Lab directors 1 1 2

Cystic fibrosis specialty clinic personnel (MDs and RNs) 2

Sickle cell specialty clinic personnel (MDs and RNs) 2 4

NBS staff (coordinators, managers, hearing screening) 5 5 3 13

Community members (parent of affected child) 1 1 1 3

Genetic counselors 2 1 3

Metabolic dieticians 1 1

Pediatricians 1 1 2 4

Local nonprofit community directors 1 1 2

Geneticists 1 1 2

Metabolic subspecialists (MDs) 1 1

IRB analysts 1 1

Total 11 9 11 8 39

Note. IRB = institutional review board; MD = medical doctor; NBS = newborn blood screening; RN = registered nurse. MountainStates region consists of AZ, CO, MT, NM, NV, TX, UT and WY.


2112 | Research and Practice | Peer Reviewed | Rothwell et al. American Journal of Public Health | November 2011, Vol 101, No. 11

maintain an audit trail. The box on page 2113provides an overview of the results.

RESULTS

Overall, participants thought that secondaryuses of residual specimens offered opportuni-ties for improvements in NBS programs. How-ever, some participants were unsure about therelationship between storage and secondaryresearch use of DBSs to the public healthmission of NBS programs. Participants ques-tioned whether it was within their institutionalresponsibilities to store DBSs beyond the timenecessary for NBS. As one person put it,

And there’s also the [question], ‘‘Why do youhave me run screening; is it to do research,or was it because you wanted to screen forwhatever disorder a child might have and helpthat child in that family?’’

Some participants felt that identifying thesecondary research purposes ahead of time andhow that research related to improving thehealth of the public would help establish

a positive relationship between the NBS pro-gram and storage of and research with DBSs.For example, participants commented that‘‘I think it depends in part on the type ofresearch that you’re doing,’’ and ‘‘I can seeusing the samples for sort of public health,seeing as they’re part of the public healthsystem already.’’

Lack of Parental Knowledge About

Newborn Screening

Another challenge that participants identi-fied for policy development for secondary useof DBSs was that not all parents are adequatelyinformed of their state’s NBS program. Al-though brochures were the most commonmethod for informing parents about the pro-gram, participants were unsure whether andwhen the parents read them. In addition, thebirth of a child is a hectic time, and even ifparents are informed, they might not be atten-tive to such information. To develop policiesgoverning the storage and research use ofDBSs, many participants felt that parents firstmust be adequately informed about the NBSprogram. Suggestions to improve parental

knowledge about NBS included providing ed-ucation during the prenatal period andinforming them through mass media such asnewspaper, radio ads, or commercials. Overall,participants recognized that education aboutNBS would be challenging but necessary.Participant comments that exemplified theseconcerns included these:

It’s a thorny issue because I think all of us aroundthe table know that the current process ofunderstanding the newborn screening as a pro-gram is hardly sufficient. I don’t think there is any[one] of us [who] would say that most parents,when they have their new baby, understandexactly what’s going on as part of the newbornscreening processes.

People don’t even know that newborn screeninghappens, and I know after having children, whenyou get stacks this high before you walk outthe door, nobody reads it, so there’s got to be adifferent mechanism.

Impact and Extent of Parental

Involvement

Another primary concern of participants wasthe changing role of parents in NBS and how itwould affect current participation. Concerns

Concerns of Newborn Screening Advisory Committee Members Regarding the Storage and Research Use of Residual

Newborn Screening Blood Spots: US Mountain States Region, 2008–2009

Issue Concern

Public health relevancy d Relation between storage and use of DBSs and the purpose of NBS and public health

d Limited resources constraining health departments

Lack of parental awareness about NBS d Need to improve education about newborn screening

d Educating parents about the retention and use of DBSs might reduce current NBS participation

Impact and extent of parental involvement d Parental consent for storage and secondary research use of DBSs

d Informed consent might interfere with current NBS participation

d Ability of new parents to fully appreciate the consent process

Privacy/confidentiality d Discrimination

d Anonymity

d Increasing transparency and building trust with parents

Secondary uses of samples d Beneficiaries

d Obligation to inform donors or their parents

Ownership of samples d Unclear whether donors or the government owns the sample

d What happens if stored until donor is aged 18 years

Role of NBS advisory committees d Some type of advisory committee needed to govern access to samples

d Few nonmedical professionals on current committees

Note. DBS=dried blood spot; NBS=newborn blood screening. Mountain States region consists of AZ, CO, MT, NM, NV, TX, UT, and WY.



about decreased participation in NBS stemmedfrom the potential for adverse impacts fromincreased education regarding research onDBSs. If parents did not want their child’s DBSsto be used for research, they might not undergoNBS itself. The following comments illustratethe feelings on this issue:

I agree that there are important reasons forstoring [DBSs]; my concern is, will that encour-age some of them [parents] to opt out of newbornscreening itself?

We’re already seeing issues in states wherepeople are trying to opt out of newborn screen-ing and, because it’s so difficult to explain all this,and we can all see the obvious beneficial impli-cations of the research. You open this up andthen suddenly people are like, okay, I don’t evenknow that I want to have a newborn screeningdone.

Most of the participants also indicated thatparents should be asked for their consent forstorage and secondary research use of DBSsand precautions should be taken to preventadverse consequences from NBS. Commentsincluded ‘‘How you get consent is going to bevery problematic because it could interferewith people consenting to the test,’’ and ‘‘It isthe parent’s choice whether that sample thenis destroyed after the newborn screen or isstored for future use. But it brings it back tothe parent to make the decision to store thatsample.’’ No consensus emerged on a bestapproach for seeking consent (opt in vs optout), but participants acknowledged that thelogistics of implementing such a process wouldbe complex.

In addition, we heard concerns about how toassess parental understanding of the consentprocess, such as

Really what is informed consent? You signa piece of paper, you sign your informed consent,something comes back later on, and [you] say,‘Well, I didn’t really understand that; that reallywas not exactly what I was informed of.’ In-formed consent is a very difficult process re-garding newborn screening and DNA testing.

Privacy and Confidentiality Concerns

Participants mentioned that privacy andconfidentiality would be significant concernsbecause research on DBSs could potentiallydrive discrimination by insurers and employers(‘‘I would think the crux of the issue would bealso maintaining privacy and assuring there

isn’t going to be any kind of discrimination forthe person if something is found out as a resultof that genetic test’’). Others were concernedabout the safeguards for ensuring anonymity(‘‘There is more access to our health informa-tion than there has ever been, and they’resharing even with insurance companies, and Ireally am concerned until such time as there issome kind of protection’’). In addition, partici-pants pointed out that a small segment of thepopulation was distrustful toward governmententities and would not feel comfortable withstorage and secondary research use of DBSseven if safeguards were in place to protectindividuals. As one participant commented,

there really is consumer fear out there. I mean,within the last month or 2, I’ve had a call froma parent who refused newborn screening becausethey assume that there is a national database.

Secondary Uses of Samples

Several participants said that parents shouldbe informed before the screening about the typeof research that would use DBSs. However, thecomplexities of identifying future research withDBSs would be problematic because of the ever-changing nature of genetic and technologicaladvancements. Some participants felt it would benecessary to identify whom or what the researchwould benefit, such as public health, children,or a specific disease or treatment. Outlining thesecondary research uses of DBSs should alsoaddress whether research will be conducted withanonymous or identified samples.

Interestingly, participants had mixed opinionson the benefits of anonymous or identified DBSsfor research, but most participants discussedconcerns parents might have if a child werediagnosed with a specific disease or conditionand the importance of communicating this in-formation to them. These concerns included:‘‘There may be something next year that comesup and says, ‘This is an amazing test that willbenefit X, Y, or Z.’ . . . Genetics is changing sofast, and it may not even be just genetics’’; and‘‘What do you do with the information? If it’s de-identified, do you re-identify it and contact thefamilies? What do you do with that?’’

Ownership of Samples

Another issue identified by participantswas ownership of residual samples. Some

participants felt that the state owned the sam-ples; others, the parents; and some were unsure(‘‘Whether it’s the family, whether it’s thehealth department or whether it’s the state . . .

who owns the samples?’’; ‘‘I think I would cometo the decision [that] the family probably ownsthem. Let me put it this way: the precedenthere is that the health department won’t releasethe sample to us for 1 reason or the otherwithout the family’s permission’’).

Participants also discussed transfer of own-ership of DBSs in the event they were storedfor a considerable period. Participants notedthat policy developments may also need toaddress what happens when a donor turns 18years of age: should consent be obtained fromthe donor or does consent by the parentsautomatically transfer to the donor (‘‘Thesepeople are going to grow up, and in 20 yearsit’s going to be their own personal DNA’’)?

Role of Advisory Committees

Participants were asked about the role theNBS advisory committee should play in de-veloping policies for storage and secondaryresearch use of DBSs. They noted that thecommittee was primarily advisory and wouldnot have the authority to make decisions re-garding DBSs. However, some type of advisorycommittee would be needed to provide over-sight for access to the samples (‘‘Like sometype of an oversight to it. Nobody can justhave access; there’s got to be some type of anoversight to it like we have in an advisorycommittee’’; ‘‘We would be recommendingwhat the system should look like to whomeverhas the final say of approval’’).

We noted differing views regarding whomthe advisory committees represented. Someparticipants felt they represented the commu-nity or at least understood the concerns of thecommunity, and others disagreed. The mostcommon opinion was that the committeesrepresented medical experts in the community(‘‘I would say we represent the medical com-munity, we haven’t always had great luck withgetting consumers involved in our advisorycommittee’’). Participants supported involve-ment by parents with and without affectedchildren as a necessary component of NBCadvisory committees (‘‘[What we need are]parents on the advisory committee. If you’regoing to have an advisory committee that



releases samples for research, you should haveparents’’).

Participants were unsure, however, aboutpublic representation—how the public shouldbe defined and whether an advisory committeewould be representative of the public. Whenasked about the role of national guidance,participants said guidelines would be helpful,but they were also unsure about how suchguidelines would be implemented at the statelevel (‘‘The national legislation is usually muchbroader. And then it comes down to the state,and the state takes it and will adapt it to fittheir state’s needs’’).

DISCUSSION

Our research, which was part of a largerstudy, aimed to evaluate the views of membersof NBS advisory committees regarding theretention and use of DBSs. Advisory commit-tees have been an important part of policydevelopments for public health programs. Inaddition to providing scientific guidance ongenetic testing, they are essential for identifyingethical, legal, and public policy concerns re-garding advancements that involve humangenetics, such as the storage and research useof residual DBSs.24 The value of advisorycommittees to NBS programs was also reinforcedby the American Academy of Pediatrics–HealthResources and Services Administration NewbornScreening Task Force, which strongly encour-aged development of advisory bodies thatcomprised a range of individuals, from healthcare personnel to community members, toprovide diverse perspectives.11

Our study was among the first to documentconcerns of advisory committees regardingpolicies for the storage and use of residualDBSs. Our results raise more questions thananswers but should encourage further researchto determine whether these attitudes are con-sistent among other state advisory committees.In addition, our findings provide preliminarysuggestions for developing policies for thestorage and use of residual DBSs.

Participants identified ethical issues that willaffect policy development for the retention anduse of DBSs. They were concerned that theretention and use of DBSs could jeopardize thepublic health mission of state NBS programs on2 levels. First, they noted the current lack of

knowledge among parents about existing NBSprograms and feared that educating parentsabout the retention of DBSs for secondaryresearch use could lead to increased refusalrates for NBS. Second, some participants ques-tioned whether the primary purpose of bloodcollection was to screen babies or to accumu-late research samples. The concern that theretention and use of DBSs could undermine theintegrity of NBS programs is crucial. Thisconcern highlights the need for greater trans-parency in the policy development process andthe need to educate parents further about NBSin general and possible future research withretained samples.

Increasing transparency and trust havebeen discussed as significant concerns for theapplication of genetic and technological ad-vancements in the public health field.25,26

Increasing transparency through educationamong communities, researchers, and govern-ment agencies can create a climate of open-ness and may enhance application of geneticand technological advancements in the publichealth domain.26 Additional concerns aboutprivacy and confidentiality of information iden-tified in our focus groups underscore the need todevelop robust privacy protections. Specific in-formation about these privacy protections shouldbe communicated to parents and the generalpublic to help foster trust in the research enter-prise and build support for the retention and useof DBSs.

Participant comments also reflected the needto clarify the role of parents in the decision-making process. Each state will need to developa mechanism by which parents are informedabout the retention and potential use of DBSsand decide what level of parental involve-ment is appropriate. Similarly, the question ofwhich party retains ownership of the residualsample should be clarified. The answer tothis question has significant implications re-garding what say, if any, parents may have inthe decision-making process.

Finally, participants recognized the value ofadvisory committee recommendations to statepolicymakers regarding the retention and useof DBSs. They noted the need for greaterinvolvement from community members, par-ticularly parents, in the policymaking process.The advisory committees in our study wereprimarily composed of medical and health

department employees, with approximately 1parent per group with a child diagnosedthrough the NBS program. Previous researchfound minimal involvement of consumers atall levels of state NBS programs.14 As statelegislatures and public health departments grap-ple with these issues, the membership of NBSadvisory committees should be considered care-fully, and increased participation by members ofthe lay public should be encouraged. Theseadvisory committees provide a mechanism bywhich a broad range of community perspectivesmay be obtained.

Advances in genetics and technology haveincreased opportunities and demand for bio-medical research using DBSs.27 However, someauthors have argued that genetic and techno-logical advances have grown faster than have thestate health department readiness and capacityto sufficiently address the practical and ethicalchallenges associated with this increased de-mand.7,28 Participants in the focus groups rec-ognized that this area is a complicated one andthat policymakers face numerous challenges.Research is needed to assess the impact of thechanging roles of NBS on public attitudes andparticipation in the screening programs. In addi-tion, national recommendations may need totake into account the attitudes and opinions ofadvisory committees. Seeking input from a vari-ety of sources is essential for ensuring that theethical implications of storage and secondary useof DBSs are properly addressed. j

About the AuthorsErin W. Rothwell and Bob Wong are with the College ofNursing, University of Utah, Salt Lake City. Rebecca A.Anderson and Jeffrey R. Botkin are with the Department ofPediatrics, University of Utah. Matthew J. Burbank is with theDepartment of Political Science, University of Utah, andLouisa A. Stark is with the Genetic Science Learning Center,University of Utah. Aaron J. Goldenberg is with the De-partment of Bioethics, Case Western University, Cleveland,OH. Michelle Huckaby Lewis is with the Berman Institute ofBioethics, Johns Hopkins University, Baltimore, MD.

Correspondence should be sent to Erin W. Rothwell,College of Nursing, University of Utah, 10 South 2000East, Salt Lake City, Utah 84112 (e-mail: [email protected]). Reprints can be ordered at http://www.ajph.org by clicking the ‘‘Reprints/Eprints’’ link.

This article was accepted July 19, 2010.

ContributorsE.W. Rothwell conducted the focus groups and analysesand led the writing. All authors provided input andfeedback on the development of the article. R. A.



Anderson supervised and coordinated data collection.M. J. Burbank, A. J. Goldenberg, M.H. Lewis, L. A. Stark,and B. Wong assisted with data interpretation and dataanalysis through team meetings and helped establishan audit trail and trustworthiness of the data. J. R. Botkincofacilitated the focus groups and assisted with dataanalysis.

AcknowledgmentsThis research represents 1 component of a larger projectaimed at promoting public dialogue on the use of residualnewborn blood screening samples for research fundedby the National Human Genome Research Institute (grantR01HG004970-01).

Human Participant ProtectionApproval for this research was obtained from the in-stitutional review boards of the University of Utah andof the health departments of each state involved.

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Concerns of Newborn Blood Screening Advisory Committee Members Regarding Storage and Use of Residual Newborn Screening Blood Spots