Some think there’s a new ethical dilemma for docs these days, as Laura Spinney notes in NewScientist (31 August 2019, paywall):
At issue is how to define a patient in an era of genetic testing. If a test shows that I carry a disease-causing gene, that may be relevant to other members of my family. If I refuse to tell them, should my doctor?
That is the nub of a trial coming up at the High Court in London in November, in which a woman is suing the hospital that diagnosed her father with Huntington’s disease for not informing her. Huntington’s is a fatal, incurable neurodegenerative disorder caused by a mutation in a single gene. Every child of an affected parent has a 50 per cent chance of inheriting the mutation.
The woman argues that, had she known her father’s diagnosis, she wouldn’t have given birth to her daughter, who is now herself at risk of Huntington’s. Currently, in the UK as in many other countries, doctors are legally obliged to respect the confidentiality of patients unless they consent to their information being shared. …
That could bring some much needed clarity to the area, but also create new problems. What if I test positive for a disease-causing gene variant and my family members, who didn’t consent to be tested themselves, don’t want to know they are at risk?
This question was raised by a German case in which a woman sued a doctor for telling her that her ex-husband had Huntington’s, meaning that their two children were at risk. The doctor acted with the consent of his patient, the ex-husband, but the woman’s lawyers argued that the information was useless to her because the condition can’t be cured and the children were too young to be tested anyway. Knowing her ex-husband’s diagnosis without being able to act on it, the woman claimed, had sent her into a reactive depression and left her unable to work.
In the latter case, the doctor eventually won. In information-happy Western Civilization, I think informing those at risk is an ethically compelling argument, because the counter-argument that the condition is incurable is contingent, which is to say that what’s true today may not be true tomorrow. But if you don’t inform those who may be at risk, they may be forgotten when, at a later date, an effective treatment is formulated. Typically, treatments are cheaper and more effective the earlier they are implemented in a disease life cycle.
And while, in the German case, it may be argued that the woman has no use for that information herself, I might note that ex-spouses getting back together is not unheard of. Now, you’d expect the husband to reveal the fact that he has Huntington’s to her, but that’s assuming rational and ethical behavior on his part.
In the end, I don’t really consider this to be a real head-scratcher. The rock-in-the-throat is the emotional distress of the woman, and, honestly, is that more important than understanding the risks to her children? And, then, the risks to her children’s children?
Tell them.
