BIOETHICS
October 1, 1999

The Privacy of Genetic Information

Our ability to test individuals for genetic disorders is increasing dramatically. Testing modalities include diagnostic testing (e.g., confirmatory tests for Huntington's Disease); pre-symptomatic testing for individuals (e.g., BRCA1); pre-natal testing (e.g., amniocentesis to detect trisomy 21); pre- implantation testing of embryos; and population screening (e.g., for Tay-Sachs).

Persons being tested (or, in the case of an embryo, fetus or child, the parents) aren't the only people with an interest in the test results. Family members and potential mates, employers, insurers, the press (in the case of a celebrity) and the government all may desire information about a person's genetic endowment, and their interests may have nothing to do with — or be antithetical to — the welfare of the proband.

To what extent should the proband be able to prevent the information from getting into the hands of others? One issue that arises is whether a physician or other health professional providing genetic testing services should be permitted without the patient's consent or over their objection to reveal test results (or even the fact that a patient has sought genetic counseling or testing) to third parties.

The rule is no different than for medical information in general: confidential information that can be linked to an identifiable patient should be disclosed without the patient's authorization only when necessary to protect third parties from harm or when disclosure is compelled by law (e.g., reporting HIV test results to public health officials).

The question then is: When is disclosure of genetic information permitted in order to protect third parties from harm? For example, can a physician over the patient's objection reveal a positive test result for an inherited disorder to the patient's children, on the ground that disclosure is necessary to enable the children to protect themselves (e.g., by prophylactic treatment or more frequent diagnostic screening) or to prevent the disorder from being passed on to others (e.g., by not conceiving or by testing and aborting an affected fetus)? This is the subject of significant debate within the bioethics community, but the consensus at this time seems to be that the information should not be disclosed over the patient's objection and that the exception to protect third parties should be interpreted narrowly to extend only to a situation in which disclosure would enable third parties to obtain treatment or prevention to avoid fairly immediate, serious health consequences.

The reason for this position is more than just the traditional concern for patient privacy and the need to maintain the integrity of the patient-physician relationship. The problem is the risk of stigma and discrimination, particularly in access to health insurance and employment. For example, many people who reveal genetic test results to their health or life insurers report that they are denied insurance or that their policies are canceled.

To date, legal efforts to protect against genetic discrimination have been incomplete. The recently enacted health insurance reform legislation, the Health Insurance Portability and Accountability Act of 1996, H.R. 3103, requires the Secretary of Health and Human Services to make recommendations on standards with respect to the privacy of individually identifiable health information, but does not specify what those recommendations should be nor whether or in what way they should address genetic information. Senator Domenici (R-NM) has introduced a bill, the Genetic Confidentiality and Nondiscrimination Act of 1996, S. 1898, that would prohibit genetic discrimination, but it has not been enacted.

A number of states have enacted legislation to prohibit health insurers from collecting or using certain types of genetic information to discriminate against insureds or persons seeking insurance but this, too, is not a complete solution. Most of these laws cover only limited types of genetic information (such as direct DNA testing) and apply only in limited settings (for example, to insurance but not to employment discrimination). An exception is a comprehensive genetic privacy bill recently passed by the New Jersey legislature, the Genetic Privacy Act, N.J.S.B. 695. But even a comprehensive law such as New Jersey's would not apply to employer self-insured health plans, which are exempt under the Employee Retirement and Income Security Act ("ERISA") from state regulation. Lastly, many of these laws lack adequate enforcement mechanisms.

Additional responses to the problem of protecting the privacy of genetic information therefore are required.

The risk of discrimination has prompted a group of us at Case Western Reserve University to take a page from the experience with HIV testing and to offer persons the option of obtaining genetic testing without revealing their identities. We call this "alias genetic counseling and testing." Probands are identified by a coded number or other identifier that does not reveal any personal information about them, including name, address, phone or social security number, employer or insurer. Test results are stored, retrieved and released solely on the basis of this code. Our experience at University Hospitals of Cleveland confirms the potential attractiveness of alias counseling and testing. To date, seven of the fifteen patients offered the option of alias testing for Huntington disease have opted to proceed with an alias; five of these have completed testing. Patients have chosen a variety of aliases; one person, for example, asked to be referred to as "James Kirk." Patients who are seen for cancer predisposition counseling and testing also are interested in using an alias. To date, three patients have requested the use of an alias.

Alias counseling and testing offers numerous benefits. It could encourage individuals to acquire valuable personal health information by providing additional safeguards against unauthorized disclosure. This would enable more people to make better-informed life-style and reproductive decisions, or to obtain preventive or treatment measures. Alias testing could promote patient autonomy by giving the proband greater control over revealing identifiable test results to third parties. It could reduce concerns over unauthorized disclosure by the test provider. By avoiding automatic or unauthorized disclosure to insurers and employers, alias testing could reduce the potential for discrimination. It would be up to the proband to decide whether to reveal the fact that he or she had been counseled and tested, and whether to reveal the test results, to insurers, employers, physicians and family members. Until improved laws prohibiting genetic discrimination are enacted, alias testing would give probands greater assurance that their legal rights would be protected.

Alias counseling and testing is not the perfect solution to the problem of genetic discrimination. Most patients and clinicians probably would prefer, all things being equal, to be able to use their own names in their interactions. Use of an alias may seem impersonal. It may not be possible to maintain absolute anonymity. Identifiable records may be inadvertently created. The proband intentionally or unwittingly may disclose the fact that he or she was tested, including the results, to third parties such as members of his or her family or treating or referring physicians. Furthermore, in those states in which insurers and employers continue to have the legal right to question persons about genetic testing, and to act on the information they receive, a person who makes false statements relying on the cloak of alias status may find themselves accused of fraud and may thereby jeopardize insurance or employment.

At the same time, alias counseling and testing may serve as an incremental step toward affording individuals more complete protection against genetic discrimination. We hope that, in the near future, laws will be enacted throughout the country to ban genetic discrimination by insurers and employers. Failing that, we might expect to see a more deliberate public effort to make truly anonymous genetic counseling and testing available to all who desire it.

Furthermore, it should be recognized that the disorders that are the subject of this proposal are autosomal dominant traits — an individual stands a fifty percent chance of inheriting the disease if one parent is affected. As such, the option of alias testing will permit approximately half of the patients to learn that they do not in fact carry the abnormal disease gene. These patients will not be faced with many of the possible contraindications for alias testing, such as the risk of losing insurance or subsequently compromised care.
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