House committee grapples with genetic testing challenges
'Potential for mischief great,' panel told
House committee grapples with genetic testing challenges
By LISA SEACHRIST
Healthcare InfoTech Washington Editor
WASHINGTON Anticipating a day when a genetic screen will be as common as a cholesterol test, the House Science Committee examined whether those tests will be accurate, and whether the healthcare community and the public at large is ready for the coming onslaught of genetic medical information.
The Human Genome Project is on track to provide a detailed, highly accurate sequence in the year 2003. Heads of the research institutes and programs that have placed medical care on the precipice of a genetic revolution testified that much still needs to be done in order to assure that genetic diagnostics will offer accurate, clinically relevant information in an atmosphere freed from concerns that such information will lead to discrimination.
"There’s been an enormous investment in the human genome that has paid off in ways that we simply couldn’t imagine," said Michael Watson, professor of pediatrics and genetics at the Washington University School of Medicine (St. Louis) and co-chairman of the now-defunct Task Force on Genetic Testing, established by the National Institutes of Health and the Department of Education.
"We are now moving into [genetic testing for] common diseases and susceptibilities," Watson said. "As a result, we need to assure that only tests with clinical utility come to market."
Because genetic tests will likely establish a susceptibility for a particular disease or disorder, efforts to ensure confidentiality of medical records and provisions to prohibit genetic discrimination are vital.
Francis Collins, director of the Human Genome Research Institute, said the "amount of genetic testing currently being undertaken is quite small. We aren’t that far away from the time when these tests become routine, and the potential for mischief is great."
The perception that the genetic information will be used for discriminatory purposes in health insurance and employment has made it difficult for some researchers to get women who are at high risk for having a BRCA-1 or BRCA-2 mutation to agree to participate.
However, it is just that type of research that will be necessary to ascertain whether a particular genetic test is reliable enough to be used in the general population.
"We have to be sure that we know what use a test has," Collins said. "For example, with prostate-specific antigen testing we never collected enough data to know what a high level meant. As a result, some believe many men are having unnecessary surgery. We need evidence-based medicine to guide us."
Watson called for the basic genetic information, which serves as the basis for genetic testing, to remain in the public domain.
"Very aggressive patenting of the human genome is leading to a number of difficulties," Watson said. "The long-term implications of awarding patents for increasingly small bits of genetic information means each will have to be independently negotiated in licensing agreements and will have a significantly negative impact on public health genetics."
The main issue for genetic diagnostics is not the tests that are packaged and sold as "kits" to clinical laboratories; those tests are subject to a pre-market review by the FDA. The greatest concern for the Secretary of Health and Human Services’ advisory committee on genetic testing, is the laboratory-based genetic testing services, which often are referred to as "home brew" and which do not fall under the agency’s purview. Rather, those tests fall under general requirements found in the Clinical Laboratory Improvements Act (CLIA) of 1998. The panelists stressed the importance of getting such tests adequately regulated, as the Human Genome Project serves as both the impetus and basis for new multi-billion-dollar markets stemming from DNA-based genetic tests.
Raymond Kammer, director of the National Institutes of Standards and Technology (Gaithersburg, MD), said that, by 2005, DNA probes are expected to account for $6 billion, or 15%, of a $40 billion in vitro diagnostics market.
Rep. Constance Morella (R-Md.), chair of the technology subcommittee, asked whether Congress needed to address this issue with new regulation.
William Raub, deputy assistant secretary of science policy at the Department of Health and Human Services, cautioned that too-hasty action could have a "chilling effect on bringing genetic medicine to the public. We believe we are moving responsibly. Last year, [the] FDA promulgated a final rule which introduced minimal FDA regulatory oversight of commercial, laboratory-based testing services." In addition, Raub pointed to potential refinements of CLIA regulations, including topics such as informed consent; confidentiality of information; and clinical information needed to establish the appropriateness of genetic testing.
Subscribe Now for Access
You have reached your article limit for the month. We hope you found our articles both enjoyable and insightful. For information on new subscriptions, product trials, alternative billing arrangements or group and site discounts please call 800-688-2421. We look forward to having you as a long-term member of the Relias Media community.