34 Practice Trends C L I N I C A L E N D O C R I N O L O G Y N E W S • Ju n e 2 0 0 6

Lack of Antidiscrimination Law Hobbles GenomicsB Y E R I K G O L D M A N

Contributing Writer

WA S H I N G T O N — Genomic science isadvancing rapidly on many fronts, butwithout solid federal policy to prevent ge-netic discrimination, it will be very difficultfor physicians and patients to harvest thefruits of researchers’ labors, said Dr. Fran-cis S. Collins, director of the National Hu-man Genomic Research Institute, NationalInstitutes of Health.

“All of the original goals of the HumanGenome Project have been achieved,” thenation’s gene dean said at the World HealthCare Congress, a health policy conferencesponsored by the Wall Street Journal. Ge-nomic researchers are making significant,clinically relevant, and potentially cost-sav-ing discoveries in early disease detection,pharmacogenomics, nutrigenomics, andrational gene-based drug design.

But widespread clinical application ofthese advances will remain a dream with-

out adequate antidiscrimination safe-guards.

“We really need this kind of protectionto forward genomic medicine. The singlegreatest inhibition that people have aboutgenomic medicine is the fear that the ge-netic information will be used againstthem. We’ve known about this hang-upfor 10 years now,” Dr. Collins said. He andother leaders in the genomics field have re-peatedly pushed for federal legislation thatwould guarantee nondiscrimination in

employment or health insurance coveragedecisions. Though such a bill has repeat-edly been introduced, Congress has failedto come through.

One particular bill (S. 1053) died in the lastCongress and was reintroduced in the cur-rent Congress as S. 306 and HR. 1227, Dr.Collins said. Though it is technically stillalive, he expressed doubt that either branchof Congress will move on it this year.

The hang-up? Dr. Collins said thatmany in the business community are con-cerned that this type of legislation wouldprovide further chum for already vora-cious antidiscrimination attorneys, lead-ing to an avalanche of spurious geneticdiscrimination lawsuits that could para-lyze corporate America.

“Some of us are concerned that if some-one doesn’t start to move this soon, noth-ing will happen,” Dr. Collins said.

Dr. Elias Zerhouni, director of the Na-tional Institutes of Health, agreed. In aseparate address at the conference, he saidhe shares Dr. Collins’ concern. “We real-

ly need antidis-crimination leg-islation.” Stasison the policyfront would bea tragedy, hecontinued, be-cause genomicresearchers are“coming upwith some pret-ty nifty clinicalstuff thesedays.”

Among thenew advances

Dr. Zerhouni and Dr. Collins cited is theevolution of the Hereditary Non-Polypo-sis Colon Cancer (HNPCC) screening pan-el that allows clinicians to predict the riskof colon cancer in families that have mem-bers with this type of colon cancer. Ac-cording to a cost-analysis published in2001, HNPCC screening of individualswith the cancer costs roughly $42,000 perlife-year gained. Not exactly a bargain,Dr. Collins admitted.

“But remember that each patient hasrelatives, and each first-degree relative hasa 50% risk of developing the cancer,” headded. If you look at screening of parents,siblings, and children of index cases, thecost drops dramatically to $7,556 per life-year gained (Ann. Intern. Med. 2001;135:577). “This is much more cost effective,and it should be reimbursed.”

A multigene assay for predicting risk ofrecurrence in women with node-negative,tamoxifen-treated breast cancer is anoth-er bright light on the clinical genomicshorizon. This assay can accurately identi-fy which women are most and least likelyto have positive long-term recurrence-freeresponses to tamoxifen chemotherapy (N.Engl. J. Med. 2004;351:2817-26). Its mainvirtue is that it allows patients who are un-likely to respond to tamoxifen to avoid un-dergoing the often unpleasant chemother-apy regimen.

The assay “has been widely adopted bymany oncologists, and it has a big patient

Detection ofdiseasesusceptibilityyears, if notdecades, beforesymptoms emergeand genomicallyguided therapyare the future ofmedicine.

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satisfaction benefit,” Dr. Collins said. Buthe acknowledged that the test is margin-ally cost efficient.

Another example from Dr. Collins: Theemergence of assays to evaluate warfarinmetabolism based on genetic variations inthe function of the hepatic cytochrome P-450 (CYP-450) enzyme system has tremen-dous everyday potential for routine clini-cal practice. Assessment of the genecoding for CYP 2C9 can help physicianstailor warfarin doses to prevent bleedingepisodes in patients with genetic propen-sities for higher-than-average responsive-ness to the drug.

The test costs roughly $135 per patientand can prevent one major bleeding

episode for every 44 patients on warfarin(Am. J. Man. Care. 2003;9:493-500). Pre-vention of a single severe hemorrhage us-ing the genetic test would cost roughly$6,000, the approximate cost of managinga bleeding episode. So this test, by itself,is cost neutral, “but it is a major improve-ment in terms of patient outcomes,” saidDr. Collins, who called for a prospectivetrial on the subject.

According to Dr. Zerhouni, early de-tection of disease susceptibility years, ifnot decades, before symptoms emergeand genomically guided drug therapy arethe future of American medicine. “DNAsequencing costs are plummeting. This isopening up a new vista regarding our abil-ity to understand disease.”

He said he believes genomic medicine isat a critical inflection point. “We have a lotof information. We need to exploit it to in-tervene, not at the most costly advancedstages of symptoms, but at early pre-symptomatic stages where we can trulyprevent diseases from manifesting.”

Dr. Reed Tuckson, senior vice presi-dent for consumer health and medicalcare advancement at UnitedHealth Group,said there’s a lot of public and physicianeducation work that needs to be done be-fore anyone will be able to make good onDr. Zerhouni’s vision.

“Physicians do not have time for abstracttheoretical discourses on the genomicsrevolution. They want practical answerson how it applies to patient care and howit pertains to their daily practices. Thelearning systems need to meet these

needs,” Dr. Tuckson said. He added thatby and large, physicians and the healthcare system are not prepared to deal withthe challenges of genomics.

“What if a doctor detects a breast can-cer susceptibility gene in a patient? Doeshe then try to track down the patient’sdaughters or her sisters? This brings upsome very real patient-doctor communi-cations issues.”

The public is even further behind interms of understanding the implicationsand value of genomic medicine. Dr. Tuck-son called for intensive public education ef-forts, pointing out that the science curric-ula in many school systems are being

decimated, leaving young people at a sig-nificant disadvantage in their ability tounderstand genetics. He also said that in-tegration of genomic developments intoroutine practice requires many more qual-ified genetics counselors than are nowavailable.

Then there’s the matter of reimburse-ment. Dr. Tuckson noted that health planshave been slow to cover genetic testing ona wider basis because administrators haveyet to be convinced that the tests, and thecourses of action after testing, are ulti-mately cost effective.

“We need to make sure that the testswork, and then get them covered. But we

really need predictive tests, not just diag-nostic tests. We need a robust database toanswer the question of whether this addsvalue, because we really need supplantivetechnology, not just additive technology,”Dr. Tuckson said.

The future of genomic medicine hingeson further research and development, andthat requires funding. “You need to fightlike hell to increase the budgets for the Na-tional Institutes of Health, the Agency forHealthcare Research and Quality, the Cen-ters for Disease Control, the FDA, and oth-er agencies. If we don’t get the research,we can’t make the choices,” Dr. Tucksonadded. ■

“If something doesn’t start to move soon,nothing will happen,” Dr. Collins said.

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