Shaping priorities in genetic medicine.

Genetic technology, touted as one of the great revolutions of medicine--and as salvation for many who suffer from intractable disease--is well on its way to a clinic near you. Thanks to rapid private-sector advances in molecular biology and a $3 billion federal Human Genome Project that will map and sequence the genetic makeup of humans, a plethora of population screens, diagnostic tests, and therapies will be available--perhaps commonplace--in the next decade. Conservative estimates are that some 50,000 gene markers will be developed as a result of molecular biology and translated into easy-to-employ biochemical assays, genetic tests, new drugs, and genetic therapies. Not unexpectedly, reaction to the products and services generated through this research has been mixed. Opportunities to predict, cure, and prevent disease with genetic technology seem limitless. Preimplantation genetic testing will offer future parents the opportunity to evaluate embryos so that they may transfer to the prospective mother's uterus only the ones they deem desirable and discard those they find undesirable for whatever reason. Prenatal genetic testing will enable parents to prepare for the birth of a child with particular genetic characteristics or to avoid it. Each of us will be able to be tested for, or to test our children for, conditions well before their onset, information that may help us prepare for the onset of the condition by adjusting life styles or seeking prophylactic therapies. And the development of new genetic therapies holds out the promise of effective treatment for many hitherto intractable diseases, such as ADA deficiency. These advantages are not unalloyed. In fact, some people think that the genetic cure is worse than the disease. The number of potential abuses of genetic information--denial of medical insurance or discrimination in employment, to name but two--should urge caution. So should the recognition that many find it morally unacceptable to preselect and dispose of embryos, manipulate germline cells, or genetically enhance persons who have no disease condition. Complicating matters even further, we tend to hold unrealistic expectations about the accuracy and certainty of genetic information. People will be tested for conditions that might never fully express themselves as a disease, or only express themselves in a mild form. For example, nearly 20 percent of persons who carry the gene for fragile-X, the most common form of inherited mental retardation (affecting one in every 2,500 live births), will never express any form of mental retardation. Yet if parents knew their children's genetic status, they might treat unaffected children as if they were mentally disabled. Other markers for which there will be tests will provide information about multifactorial conditions in which environment, other genes, or both interact in determining just how--or if--the condition will be expressed. Genetic information must be interpreted with caution if it is to serve as a basis for action. Such moral problems raise the question whether society should make all or only some of the potential and existing genetic technologies widely available. Add to this the very real concern that the throng of products and services generated through this research has the potential to put significant further pressure on a health care system that already cannot provide adequate services to all persons.[1] Given current restructuring of U.S. health services along the lines of managed health care, the need and desire of public and private parties to manage health resources aggressively by controlling costs and quality of care will call the question about what services to make available, to whom, on what basis. By what criteria should priorities be set? Should genetic services sought by only a few be made available? Should genetic screening and testing be offered for conditions for which there is no cure? Should specific groups be targeted for the distribution of genetic services? …