Imagine the following scenario: A healthy 35-year-old Ashkenazi woman is advised by her primary care physician during her annual wellness exam to undergo screening for a harmful BRCA mutation, something which is present in about one in 40 Ashkenazi women. Clearly, knowledge of the presence of the mutation would have serious implications for her—its presence would indicate a very high risk for breast cancer and ovarian cancer as well as other malignancies.
From a prevention point of view, there would be clear-cut benefits that this knowledge would provide to her, as she could undertake certain interventions to reduce her future risks. She does not yet have children, but she does have siblings with whom she is not close and they have children. (If she carries a mutation, her siblings would have a 50% chance of harboring the mutation as well, while her nieces/nephews would have a 25% risk.) Would she or her physician be obliged to divulge her information to her siblings or, if she declined to do so, would her privacy be protected?
Furthermore, the woman has a responsible position at a major corporation that might look askance if it were aware that she carried a major deleterious gene mutation. Is there any way they could become privy to her information? And finally, what about her insurability? Is this information that an insurance company—life insurance or medical insurance—could inquire about and thus render her uninsurable?
Paul Appelbaum was a classmate of mine at Columbia College before moving on to Harvard Medical School. (We both got As in organic chemistry—it must have been his essay.) He subsequently trained in psychiatry at Harvard before spending time at the University of Pittsburgh and ultimately becoming chair of psychiatry at the University of Massachusetts-Worcester, and finally being recruited to Columbia in 2006. His special interest has been the intersection of law and ethics in psychiatry, and he has written and consulted extensively on this subject, most especially as it relates to genetics. He currently heads the Division of Law, Ethics and Psychiatry in Columbia’s Department of Psychiatry.
An article by Appelbaum and a colleague in the Annals of Internal Medicine in 2019 addressed and discussed the above scenario. With regard to the first issue, disclosure to relatives, it may seem obvious that the privacy rules of HIPAA would preclude the disclosure of such information to anyone, including third parties who are themselves at risk, without the patient’s explicit consent.
Nonetheless, there were prior committees at various medical organizations that recommended that, if there were indeed a serious risk to a third party and if the patient were unwilling to divulge the information despite being encouraged to tell his/her relatives, that the physician had the right to inform the at-risk relatives. There were two malpractice cases brought based on this recommendation in which physicians failed to inform relatives after the patient refused to do so that reached conflicting conclusions. In New Jersey, however, subsequent legislation created a broad right to genetic privacy that would preclude disclosure without consent. Since then, the HIPAA privacy rules have become more stringent so it would seem that disclosure now is even less likely if the patient refuses to do so.
As for the question of the employer obtaining her genetic information, Appelbaum indicates that there is a federal statute in place that prohibits employers from requesting or utilizing genetic information regarding employees with the purpose of discrimination regarding promotion, compensation or termination. Thus, safeguards seem to be in place to protect our subject in this sensitive area.
The same law also prohibits discrimination in the area of health insurance. Thus, health insurers may not request or utilize genetic information in the decision regarding the issuance of insurance, nor in setting premiums, or in other decisions with regard to health insurance. Again, these safeguards are clearly in place. However, other forms of insurance (e.g., life insurance, disability insurance) are not similarly constrained. They are permitted and could take genetic information into account in their decision making.
Despite the presence of these safeguards in these potential situations, it does seem that the public is largely unaware of their presence. Thus, patients may have or express concerns and may be inhibited from undergoing genetic testing because of such concerns even though the law and rules of confidentiality would protect their rights. Physicians and healthcare providers need to be knowledgeable about these topics so they can reassure patients that they can safely undergo genetic testing without undue fear of such concerns. The reality is that genetic testing has been under-utilized and can offer great opportunities for prevention and control, so to the degree that these issues can be allayed in patients’ minds, genetic testing can make a great contribution.
Alfred I. Neugut, MD, PhD, is a medical oncologist and cancer epidemiologist at Columbia University Irving Medical Center/New York Presbyterian and Mailman School of Public Health in New York.
This article is for educational purposes only and is not intended to be a substitute for professional medical advice, diagnosis, or treatment, and does not constitute medical or other professional advice. Always seek the advice of your qualified health provider with any questions you may have regarding a medical condition or treatment.
