Kathy Hodgkinson and Daryl Pullman propose that high risk/high recurrence genetic diseases should come under the purview of public health.
In the UK, a woman is suing her deceased father’s doctors for not informing her that she has a high genetic risk of inheriting Huntington’s disease. This interesting case, where the potential well being of one individual is predicated on understanding a health risk based on a genetic condition in a relative, illustrates a situation we have discussed with reference to similar genetic diseases over the years.
In 2006 we coined the term “privacy paradox” to describe a type of ethical challenge that arises in modern medicine when managing genetic disease. On the one hand, with the advent of social media, electronic health records, and various other sources of personal data, there is a heightened awareness of the need to protect the privacy of an individual patient’s health information. On the other hand, the push toward the wider utilization of genetic information in the “genomic era of precision medicine” has far-reaching implications. A genetic sample from a single individual can disclose important health risks for other family members. It appears the physician in the UK case was struggling with this paradox. Where does one person’s right to privacy regarding health information end and the right of a family member to be told potentially life altering information begin? Although such cases are relatively few in number, they can generate tremendous moral distress for health care providers.
One disease we have studied in depth in Newfoundland and Labrador illustrates this issue well. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a serious, often fatal heart condition: half of affected males who are untreated will die before age 40 years. The disease is autosomal dominant with a 50% risk to first-degree relatives just like Huntington’s. It is however sex influenced; sudden unexpected death and heart failure occur earlier in men than women. An implantable cardioverter defibrillator (ICD) alters survival statistics significantly, as men who receive an ICD based on a genetic test live on average 31 years longer than those not treated. Intervention clearly saves lives.
Nevertheless we have encountered situations where individuals remain at risk because an affected family member chooses not to share information with relatives, or where persons know they could be at risk (because of their family history) yet refuse to be tested. What are health care provider responsibilities when we know that some of these individuals are working in occupations that place others at risk (e.g., pilot, bus driver, trucker)? Cases like this raise the issue of duty to warn.
Duty to warn in the context of genetic disease is problematic. Issues of genetic discrimination and insurability are reasons for keeping genetic information private. Canada now has legislation that protects against using genetic test results to refuse insurance, although for many serious diseases a family history alone will influence insurability. However, the duty to disclose information that could alter the course of life for someone at risk, when sharing that risk entails breaching confidentiality of a family member, receives much less attention. In a society where the rights of the individual are paramount, our capacity to act beneficently for the good of others is often compromised.
Even if we agree that in extreme situations (e.g. a 50% risk of ARVC in a school bus driver) it would be permissible to breach patient confidentiality, expecting physicians or genetic counselors to find and approach family members is unworkable. Imagine the number of hours already overworked professionals might spend, trying to contact potentially at risk persons. At what risk-level should one cease to attempt making contact? There are no policies, procedures, or guidelines to answer this question. First-degree relatives of autosomal dominant diseases are at 50% risk of inheriting the disease causing mutation. Their children are at 25% risk, and their grandchildren are at 12.5% risk (1 in 8). Is a 1 in 8 risk high enough to “warn” if the potential outcome is sudden death?
Sharon L. Keeling has suggested that some genetic diseases should be treated in the same manner as high risk infectious diseases. The broader good of the community is the priority in public health such that the privacy rights of individuals can be overridden. On this view a separate agency would be responsible for identifying and informing family members who might be at serious genetic risk. This plan would be one way of resolving the privacy paradox for some forms of genetic disease.
The privacy paradox will only get more complicated as genomic information becomes more mainstream. Some cases will seem more clear-cut than others, but in the absence of defined methods to deal with the issues, the privacy paradox will continue to bedevil us. We suggest that the public health model should be seriously considered in Canada for some types of genetic disease, and we encourage more open dialogue about other ways of resolving the privacy paradox.
Kathy Hodgkinson is an Associate Professor of Clinical Epidemiology and Genetics in the Faculty of Medicine at Memorial University.
Daryl Pullman is Professor of Medical Ethics in the Faculty of Medicine at Memorial University.