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Science Races Ahead of the Law in Genetic Testing

The author, an attorney and medical doctor, is a partner with Goldsmith Ctorides & Rodriguez in Englewood Cliffs.

Medical science is advancing rapidly in the field of genetics. Watson's and Crick's Nobel Prize-winning discovery of gene strands in the form of a double helix has evolved into a science where individual genes are being located and the effects of the particular genes are either known or in the process of being discovered. As a race, we are standing at the threshold of developing treatments where individual genes may be altered to the benefit or the detriment of the individual. Cloning, which has received so much publicity as of late, will allow for the genetic clone or genetic identical twin of any animal to be produced.

However, as always in medicine, there is a gap between the discovery of a new technique or procedure and the time when it is placed into practice. Medical researchers knew about bacteria long before cures in the form of antibiotics were discovered. The medical community knows that viruses can and do cause the common cold, but no cure has been discovered for common viral ailments. We have now discovered specific genes that are causally related to specific diseases, but cannot alter and "cure" the genetic defect.

With the advent of the ability to identify and classify human genes, many moral, ethical, legal and economic questions have been raised. The questions not only affect the practice of medicine, but also how the individual must approach the physician to receive treatment.

Reading the Genes

There are many genetic disorders. One that has received a great deal of attention is Tay-Sachs disease. The gene that causes this condition is a recessive gene, meaning that the individual who has one such gene on one of the spirals of the double helix will be a carrier of the condition but will not have the disease. If this individual were to marry an individual who is also a carrier of the condition, then statistically, 50 percent of their children would receive one abnormal Tay-Sachs gene and one normal gene from their parents and be carriers but not have the disease. Twenty-five percent of the offspring would receive two normal genes and not be carriers of the disease. The final 25 percent of the children of the union would have received a recessive gene from each parent, be afflicted with the disease and probably die of a debilitating neurological disorder before they reach their fifth birthday.

Individuals can be tested for the gene before they marry. Indeed, some Orthodox Jews advise prospective couples to be tested before marriage so that a decision can be made as to whether or not they will marry at all. An alternative is to have the couples tested after marriage so that the presence of the gene is known. If both parents have the gene, then the parents have the option to abort the fetus if it is a carrier of two Tay-Sachs genes. If the parents do not wish to have the fetus aborted, then the health insurance carrier may be required to spend thousands of dollars on the care and treatment of this infant in an attempt to prolong a life of limited duration that will have no quality.

There are many other recessive genes in the human population gene pool. Some, such as the gene for blue eyes, lead to benign results, while others will always present problems when recessive genes are doubled.

There are also what are called dominant genes. In these situations, the individual with the gene will have the trait that is specific for that gene as will the offspring of a marriage that receives that particular gene. Statistically, offspring of such a marriage will have a 50 percent chance of receiving the dominant gene. One recent report referred to a family in which such a gene caused certain neurological problems but only when the particular individual reached an age of between 55 and 65 years. Since in years past the life expectancy was not as great as 55 years, this dominant and problematic gene presented few problems for the family and was not recognized. However, with life expectancy being extended, the presence of this gene became a problem. The particular gene has not been identified. What is currently known is that it is a genetic condition, that it does affect a large number of the members of this family, and that at some point in time, someone will do the research to discover the particular gene.

Even when the particular gene is pinpointed, the researchers still will have to develop a treatment for the problem. Until then, neurologists will have to treat the members of the family symptomatically as they age and are identified as carriers of the gene.

There is another category of genes that are known to be associated with genetic problems, but unlike the dominant gene, it is not an all-or-nothing function. These genes may be affected by other genes, for while they are associated with specific problems, all individuals with the gene do not develop the condition. There is no method currently available to predict, who will get the disease and who will not. Included in this group are BRCA-1 and BRCA-2, known to be associated with the occurrence of breast cancer. Apolipoprotein E4 is known to be associated with late onset Alzheimer's disease while E280A Presenilin-1 Mutation is associated in part with early onset Alzheimer's disease.

Who Should Know?

Would you want to know whether or not you have a particular gene? If you do want to know, what use will be made of the information? If you find out that there is a genetic problem, who else will want to have that information and what uses could these other entities legitimately and legally make of the information?

There are many reasons to want to know if there is a deleterious gene present. In the Tay-Sachs situation, decisions can be made as to whether or not to get married or have an abortion. If the problem is not Tay-Sachs but perhaps glaucoma, then closer observation could lead to earlier treatment and control of the problem. In the future, earlier diagnosis may lead to genetic alterations before the development of the serious aspects of a disease. As individuals, you can make your own decisions based on the information that is currently available.

The problems that remain are not the decisions that you make but those decisions made by others that will affect your ability, and those of your offspring, to live and work normal lives.

Currently, the Mayo Clinic gives patients the option to be tested for a genetic abnormality and, if the results indicate an abnormality, whether or not they wish the information to be entered in their medical records. The clinic's concern is that, depending on the problem and the potential abnormality, that the health insurance carrier will restrict, limit or bar insurance for the individual. Health insurers may construe a genetic defect as a pre-existing condition.

State of the Law

Two cases exist that are tangentially associated with this topic. First in Katskee v. Blue Cross/Blue Shield of Nebraska, a patient was found to have a 50 percent likelihood of developing breast and/or ovarian cancer because of her genetic makeup. She had surgery performed to prevent the disease and the carrier denied payment because no cancer was currently present. The Court** found that the carrier was responsible for the costs. The decision as based on the probability that the defective gene would cause a problem and would therefore, be an illness.

In a second case, an insured was denied coverage for the medical bills associated with a retinal detachment. The carrier based the decision on the fact that the medical problems leading to the detachment constituted a pre-existing condition. The carrier was found responsible for the bills based on the theory that the condition was unknown to all of the parties at the time the policy was entered into.

New Jersey has begun to address the issue in two statutes. The first is the Law Against Discrimination, N.J.S.A. 10.5 et seq., which was amended in 1992 to include the term "familial status." This statute refers to discrimination in the work place and areas other than in the availability of health insurance. The second is an act titled Hereditary Disorders, N.J.S.A. 26:5B-1 et seq., under which the Department of Health is to promulgate regulations and "[c]onsult with the Commissioner of Insurance in identifying arbitrary and unreasonable discrimination against persons with hereditary disorders and their families in insurance coverages." N.J.S.A. 26:5B-4e.

However, it is unclear what "arbitrary or unreasonable" will mean when that phrase finally is interpreted.

Would it be unreasonable if the insurer were to know with a 100 percent certainty that all of the insured would be affected by the problem? Would it be arbitrary to request a genetic profile of the insured before writing a policy or perform a physical examination or demand an AIDS test? Would it be unreasonable to deny coverage to a family where Tay-Sachs-affected children were born and needed care before they died?

Every genetic abnormality constitutes a pre-existing condition. The prevalent fear in the medical community is that affected individuals will be denied medical insurance. The absence of reported cases today does not mean that the problem does not currently exist or that it will not be present in the future, only that there are no reported cases.


Copyright 1997 New Jersey Law Journal. Reprinted with permission.


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