WASHINGTON — Genomic science is advancing rapidly on many fronts, but without solid federal policy to prevent genetic discrimination, it will be very difficult for physicians and patients to harvest the fruits of researchers' labors, said Dr. Francis S. Collins, director of the National Human Genomic Research Institute, National Institutes of Health.
“All of the original goals of the Human Genome Project have been achieved,” the nation's “gene dean” said at the World Health Care Congress, a health policy conference sponsored by the Wall Street Journal. Genomic researchers are making clinically relevant and potentially cost-saving discoveries in early disease detection, pharmacogenomics, nutrigenomics, and rational gene-based drug design.
But he warned that widespread clinical application of these advances will remain a dream without adequate antidiscrimination safeguards.
“We really need this kind of protection to forward genomic medicine. The single greatest inhibition that people have about genomic medicine is the fear that the genetic information will be used against them. We've known about this hang-up for 10 years now,” Dr. Collins said. He and other leaders in the genomics field have repeatedly pushed for federal legislation that would guarantee nondiscrimination in employment or health insurance coverage decisions. Though such a bill has repeatedly been introduced, Congress has failed to come through.
One particular bill (S. 1053) died in the last Congress, and was reintroduced in the current Congress as S. 306 and HR. 1227, Dr. Collins said. Though it is technically still alive, he expressed doubt that either branch of Congress will move on it this year.
The hang-up? Dr. Collins said that many in the business community are concerned that this type of legislation would provide further chum for already voracious antidiscrimination attorneys, leading to an avalanche of spurious genetic discrimination lawsuits that could paralyze corporate America.
“Some of us are concerned that if someone doesn't start to move this soon, nothing will happen,” Dr. Collins said.
Dr. Elias Zerhouni, director of the National Institutes of Health, agreed. In a separate address at the conference, he said he shares Dr. Collins concern. “We really need antidiscrimination legislation.” Stasis on the policy front would be a tragedy, he continued, because genomic researchers are coming up with some pretty nifty clinical stuff these days.
Among the new advances, Dr. Zerhouni and Dr. Collins cited the evolution of the Hereditary Non-Polyposis Colon Cancer (HNPCC) screening panel that allows clinicians to predict the risk of colon cancer in families that have members with this type of colon cancer. According to a cost analysis published in 2001, HNPCC screening of individuals with the cancer costs roughly $42,000 per life-year gained. Not exactly a bargain, Dr. Collins admitted.
“But remember that each patient has relatives, and each first-degree relative has a 50% risk of developing the cancer,” he added. If you look at screening of parents, siblings and children of index cases, the cost 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 of recurrence in women with node-negative, tamoxifen-treated breast cancer is another bright light on the clinical genomics horizon. This assay can accurately identify which women are most and least likely to have positive long-term recurrence-free responses to tamoxifen chemotherapy (N. Engl. J. Med. 2004;351:2817–26). Its main virtue is that it allows patients who are unlikely to respond to tamoxifen to avoid undergoing the often unpleasant chemotherapy regimen.
The assay “has been widely adopted by many oncologists, and it has a big patient satisfaction benefit,” Dr. Collins said. But he acknowledged that the test is marginally cost efficient.
Another example from Dr. Collins: The emergence of assays to evaluate warfarin metabolism based on genetic variations in the function of the hepatic cytochrome P-450 (CYP-450) enzyme system has tremendous everyday potential for routine clinical practice. Assessment of the gene coding for CYP 2C9 can help physicians tailor warfarin doses to prevent bleeding episodes in patients with genetic propensities for higher-than-average responsiveness to the drug.
The test costs roughly $135 per patient, and can prevent one major bleeding episode for every 44 patients on warfarin (Am. J. Man. Care 2003;9:493–500). Prevention of a single severe hemorrhage using the genetic test would cost roughly $6,000, the approximate cost of managing a bleeding episode. So this test, by itself, is cost neutral, “but it is a major improvement in terms of patient outcomes,” said Dr. Collins, who called for a prospective trial on the subject.
According to Dr. Zerhouni, early detection of disease susceptibility years, if not decades, before symptoms emerge, and genomically guided drug therapy are the future of American medicine. “DNA sequencing costs are plummeting. This is opening up a new vista regarding our ability to understand disease.”