Confidentiality and the Control of Genetic Information

Medical genetics is more concerned with the family than almost any other medical subspecialty. As part of the evaluation of a clinically significant genetic disorder, the genetic counselor is required to collect detailed family data and record it in the form of a pedigree. This enables the counselor and the medical geneticist to determine whether there is a pattern of occurrence in the family consistent with control by a single gene of major effect (often referred to as a "Mendelian" gene). The pedigree may also provide information that may indicate the presence of inherited chromosomal structural rearrangements called translocations. More often than not, the pedigree information is insufficient to make this determination. But when it does demonstrate the presence of an inherited defect, this knowledge can have serious, even grave, implications for the other genetically related members of the family. This is especially true when one is dealing with conditions that demonstrate autosomal or X-linked dominant or X-linked recessive modes of inheritance, because inheritance of a single mutant gene on an X or non-X chromosome can cause the full-blown clinical disorder.

Under the medical model that governs medical geneticists and genetic counseling, the counselee has the status of a patient. All information relative to his or her case is covered by the guarantee of privacy and confidentiality that is required of health professionals (Beauchamp and Childress). The medical geneticist or genetic counselor should get permission from the counselee to contact other family members to inform them that they are at risk for a serious genetically determined disorder. In general, this is not a problem; most counselees readily consent to having their relatives contacted or are willing to do this themselves. But in at least two instances the genetic counselor may face an ethical dilemma concerning the release of information to third parties.

1. The disorder is not treatable and can be diagnosed by prenatal diagnosis, so a couple at risk could theoretically avoid the birth of an affected child; or individuals at risk for this might wish to take special predictive tests and use the knowledge to get their affairs in order or in other ways to alter their life situation.

2. The disorder is treatable and can be cured or can have the symptoms and any complications significantly reduced by safe and readily available therapy; or the expression of the disorder can be prevented if it is detected before the symptoms have appeared.

The obligation to maintain confidentiality of patient records and genetic information obtained in a medical setting is not absolute and may be breached when there is adequate justification. The exceptions may be invoked only if there are extenuating or overriding personal or social circumstances. The State of Texas statute on confidentiality, for example, allows confidential information to be disclosed if there is the probability of imminent physical injury to the patient or others (Andrews). In the case of genetic disorders, the most compelling argument for breaching confidentiality besides those instances where it is required by law is the protection of third parties from harm (Andrews). In ethical terms this is sometimes cited as "the duty or obligation to warn" when there is a clear or imminent danger.

In the cases shown above, there would appear to be clear justification for breaching confidentiality in the second case but not in the first. In the first example, useful information might be provided to third parties, but there is no evidence of harm because the condition identified is not treatable. In the second example, the fact that there is a treatment or a method of preventing the condition means that failure to warn would result in harm to a third party. Since the burden of justification would be on the genetic counselor to show that the harm, however, conceived, is correctable or preventable, it makes sense not to breach confidentiality in instances where the potential harm is not clearly defined. The U.S. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research regarding confidentiality provided four conditions under which the requirements of confidentiality can be overridden and genetic information released to relatives or their physicians (1983).

Revealing genetic information, especially in cases of presymptomatic diagnosis, has other important implications for the counselee's eligibility for health insurance and possibly for life insurance. Depending on the condition involved, such information if revealed can also affect employability and opportunities for promotion. There is always a significant risk that sensitive information, if released, may find its way to individuals or agencies that might harm the counselee in the future.

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