Let’s Keep Genetic Information an Individual Affair

Posted on November 28, 2018 I Written By

Andy Oram is an editor at O'Reilly Media, a highly respected book publisher and technology information provider. An employee of the company since 1992, Andy currently specializes in open source, software engineering, and health IT, but his editorial output has ranged from a legal guide covering intellectual property to a graphic novel about teenage hackers. His articles have appeared often on EMR & EHR and other blogs in the health IT space. Andy also writes often for O'Reilly's Radar site (http://oreilly.com/) and other publications on policy issues related to the Internet and on trends affecting technical innovation and its effects on society. Print publications where his work has appeared include The Economist, Communications of the ACM, Copyright World, the Journal of Information Technology & Politics, Vanguardia Dossier, and Internet Law and Business. Conferences where he has presented talks include O'Reilly's Open Source Convention, FISL (Brazil), FOSDEM, and DebConf.

These times train us to seek continually for more data and more transparency, always assuming that more is better. But some types of data and transparency bring risks, because “A little learning is a dangerous thing.” In particular, sharing genetic information with family members raises daunting ethical issues, along with the need for a mature understanding of consequences, as illustrated by a court case from the UK recently reported in The Guardian.

Superficially, this case seems to be a simple balancing act concerning how far a doctor is responsible to fulfill a family member’s right to know. But in context of our modern scientific knowledge about genetics–and the limitations of that knowledge–far greater concerns emerge.

In this case, a man in the latter stages of life was diagnosed with Huntington’s disease. His daughter was pregnant at the time. After the baby was born and the man died, his daughter sued the doctor because the doctor had failed to inform her of her father’s diagnosis. She claimed that she would have aborted the fetus had she known. She, in fact, was later diagnosed with the dreaded condition, meaning that her daughter has a 50% chance of developing the condition too.

The Guardian reports what I consider a proper and satisfactory resolution to the case–upholding the doctor’s right to suppress the information and denying the mother a victory–but the newspaper reports that the case was disturbing because it proceeded so far, leaving an opening for similar cases in the future. The details reported in the article about this case make the mother’s argument even weaker: it turns out that the doctor asked his patient whether he’d like his daughter to be notified. And the patient, knowing her intentions full well, told the doctor he wanted the baby to be born and insisted that his daughter not be told.

Huntington’s is certainly a heart-rending disease, both for the patient and the family. I can understand why a woman would want to prevent her child from suffering from Huntington’s–certainly a very difficult choice to make–but note that the fetus’s odds of getting the disease were only 50%, a facet of the discussion that will return as I examine the ethics of genetic counseling. The overweening point is that here we have a highly ethical doctor who quite properly left the decision in the hands of the patient and respected the patient’s privacy.

What are some of the subtler considerations about genetics that didn’t make it into The Guardian article?

Trouble setting thresholds

In our Huntington’s disease case, the mother declared that a 50% chance of contracting such a horrible condition would be enough to prevent her from having children, and even enough to drive her to abort the fetus she already had. But if we required doctors to report diseases to relatives, how serious should the risk be? Should they report a tendency to baldness or something else non-threatening? How threatening should the condition be? And how likely should it be? If the incidence of the disease is 1% in the general population, should they be forced to report a 2% chance? Or 20%? 50%? Such questions become even murkier when statistics are based on diagnosis of a family member instead of personal genetic testing.

Unknown variability

Many conditions are affected by other genes that individuals may or may not possess, along with lifestyle choices and other environmental factors. Statistics collected over a population of a few thousand patients may suggest that someone’s child has a 50% chance of inheriting a disease, but depending on one’s genetic make-up, the chance may be 5% for one person and 95% for another. Under such conditions, is it truthful and meaningful to tell a person he has a 50% risk?

Need for counseling

We’ve seen that it’s hard to draw meaningful conclusions from most genetic results, and even harder to chart a rational course of action. Furthermore, learning that one has heightened risk for any medical condition causes the eruption of strong emotions that must be handled in a professional setting. Suppose someone has Huntington’s disease and 50 family members are potentially affected. Does the doctor have a responsibility, not only to notify all 50 family members, but to provide counseling for them as well?

In short, we can’t drop crude regulations onto clinical staff in an environment of such ambiguity and variety. The best ethical guideline we have is the classic one: respecting the patient’s privacy. Each patient can determine whom to tell and how much to see to each person about his condition.

I think that genetic notification should be on a “pull,” not “push,” basis. A person who wants to check for genetic risks can be tested. An expectant mother can ask her parents to please let her know of any changes to their health that could have a genetic impact on her. Certain types of notification may require counseling to help a member of the general public understand her risks and options. Reasonable fees for all these things apply.

The problem of predicting risk goes way beyond genetic conditions. We know that insurers, financial institutions, and others comb through publicly available information about us in order to make major decisions affecting our lives, such as whether we can get a mortgage. Just as we need guidance to make health decisions, these institutions should be held to high standards for fairness and for respecting individual dignity. We’ve seen that a father has the right to withhold genetic information from his own daughter–how much more right do we all have to keep our sensitive conditions secret from commercial institutions. When data increasingly underlies our own decisions as well as decisions made about us by others, transparency has to vie with other ethical considerations.