Genetic testing raises coverage, privacy issues
Legal, social policies lag behind scientific gains
With the completion of the mapping and sequencing of the human genome — the complement of genes in human deoxyribonucleic acid that guide development — the availability of genetic tests for disease and new therapies for genetically linked conditions will be on the increase dramatically in the next century.
Unfortunately, legal and social policy is lagging behind science in developing guidelines for the use of genetic information.
For example, how do we as a society ensure that the public has equal access to genetic testing and therapies? How do we ensure that genetic information is not abused or used by third parties to discriminate against people with genetic predictors for illness? How do we ensure that genetic information, which yields information not only about the person tested but also about that’s person’s relatives, is kept private?
Without concrete social policy or laws, hospitals and health systems largely bear the burden of dealing with these issues on a case-by-case basis, and the situation is only going to get more complicated, says Maxwell J. Mehlman, JD, director of the Law-Medicine Center at Case Western Reserve University School of Law in Cleveland. Mehlman also is co-author of the book, Access to the Genome: The Challenge to Equality (Georgetown University Press; 1998), which details the potential ethical and legal conflicts that can arise with the availability of genetic information.
"There is a whole array of genetic technologies coming down the road, some sooner than others. We already have a number of genetic tests available, and that already has implications for health care providers," he says. "Many of these are now in the experimental stages, but sooner or later we are going to have a large array of genetic therapies, which will have several other implications for health care providers. Eventually, we will have genetic engineering to prevent, cure, or eliminate the symptoms of various diseases that are inherited."
One of the most challenging implications for health systems will be determining at what point certain genetic tests become part of the overall standard of care.
Genetic testing and genetic technologies are expensive, and it is unclear how third-party payers will respond in terms of covering those tests and treatments.
For example, says Mehlman, a patient could be diagnosed with a disease that could have been treated if it had been caught through genetic testing. Will the hospital or provider where the patient received care be held liable for failing to provide the test? What if the test is available but very expensive and not covered by the patient’s insurance?
"These tend to be cost-increasing technologies, at least in their first stages of adoption. Some are likely to be very expensive," Mehlman explains. "The question will be how will health plans, for example, be able to afford them? How will hos pitals be able to provide them under Medicare, DRGs, and so forth? There will be all of those coverage issues. To what extent will health plans try to limit coverage of these expensive technologies?"
Navigating the therapeutic gap’
Currently in the biomedical field, there also exists what is known as the "therapeutic gap," says Kathy Hudson, PhD, assistant director for policy and public affairs at the National Institutes of Health’s National Human Genome Research Institute (NHGRI) in Bethesda, MD.
"The ability to diagnose a genetic condition or genetic risk factor is variably useful," she notes. "In some cases, there are interventions that exist, and then in other cases, there is really nothing that you can do and all you have is the knowledge."
A good example on one end of the spectrum is the occurrence of phenylketonuria (PKU), a genetically inherited inability to metabolize the amino acid phenylalanine. PKU causes retardation but can be prevented if the affected person maintains a diet free of phenylalanine.
"All newborns are tested for PKU, and we have a good intervention," Hudson notes.
Farther along the spectrum are diseases with known genetic links for which there is no treatment or the treatment options are not favorable, she adds.
"Sort of further down the gradient are conditions like hereditary breast and ovarian cancer risk," she says. "Increased surveillance and some interventions might decrease the risk, but the options, certainly at this moment in time, are not ideal. The option of mastectomies, for example, to reduce risk is not all that clear and is not a pleasant option. And, if you have a mutation of BRAC1 or BRAC2, it is only an increased risk. It is not an absolute that you are going to get breast cancer."
Even farther down the gradient are things like Huntington’s disease, Hudson adds. "If your mother had Huntington’s disease, you are at 50% risk. If you have inherited that altered allele, you know, basically, what your future holds, but there is nothing at the present time that can be done to avert that really devastating and tragic condition."
Committees will play key role
Ethics committees may be called upon to develop guidelines for genetics counselors in discussing the impact of this knowledge with patients seeking to undergo testing. But Mehlman cautions against what he sees as a sometimes "paternalistic" approach in genetics counseling.
"Some people make the argument that people should not be permitted to undergo a genetic test under certain conditions because they would not be able to understand the implications, there is no treatment available, etc." he says.
"I don’t agree with that. I do think that the patients must be informed completely of the implications of knowing this information and the potential impact on their lives. But to try to determine for someone else whether they should have access to that information, I think, is too paternalistic," notes Mehlman.
Health care providers, particularly, must fully appreciate the difference between genetic testing and other diagnostic testing to predict disease, notes Alan Guttmacher, OD, senior advisor to the director for clinical affairs in the office of the director at the NHGRI.
"There are some things that are different about genetics from other areas of health care," he explains. "In genetics, all of this stuff by definition comes through your family. So, then again, you have an unusual impact of genetic disorders in that the implications for someone having a genetic test may not be just implications for the individual having the test, it may have implications for other people and their families."
Ensuring the privacy of genetic information is one of the top concerns the public has with genetic testing, he notes. "There is a big argument over whether the issues over privacy of genetic information are really any different than they are for the rest of a person’s medical information. But different or not, they are certainly very important in genetics because there is a particular significance of this information in terms of a patient’s insurability, employability, and just in terms of how people view you."
Mehlman agrees that the arena of genetic testing and gene therapy largely will just exacerbate ethical dilemmas already evident in modern medicine. "I’m not sure that this raises a whole lot of absolutely novel issues for ethics committees, but there may be more acute concerns of the same sort that we have had before," he says. "A lot of people feel — probably correctly — that genetic information is particularly sensitive and that the people keep records must be particularly careful with this kind of information. There are stigmatizing effects in terms of health insurance, life insurance, etc. If the information gets into the wrong hands, it can be used for the wrong purposes."
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