Huntington’s Disease: the thin scary border among the need  to disclose a genetic risk, the right to know and the duty to protect privacy

Huntington’s Disease: the thin scary border among the need to disclose a genetic risk, the right to know and the duty to protect privacy

Two stories concerning the genetic status of Huntington Disease (HD) family members management were recently reported by 'The Economist'.

#1 - In England, a woman sued the hospital for having been informed of her father’s genetic diagnosis of Huntington diseases (HD), after (and not before!) she was expecting her first baby. Her father expressly asked the hospital - where they were both undergoing family therapy - not to inform his daughter fearing that she would terminate her pregnancy. The woman, who tested HD positive, said that if she had received this information before, she would have chosen not to carry the baby to term. The High Court, which initially rejected the woman request, has now changed its decision and reopen the legal proceedings.

#2 - In Germany, a woman sued the physician who revealed her that her ex-husband was affected by HD. At that time, the woman's children, as minors, could not have been legally tested, therefore, unable to react to that information in any possible way. As a consequence, she felt into a deep state of depression to the point that she had to quit her job. The German Federal Court of Cassation rejected her complaint.
 

Even though privacy needs to be always protected from both the legal and ethical point of view, there could be several clues to how to manage such conditions. For example, a physician may derogate from confidentiality in the attempt to protect human health only in case of a real person’s physical or mental inability. Coming back to the two English and German examples: does the father deserve the right to keep his genetic status strictly confidential by asking the hospital not to inform his daughter of HD diagnosis, as described by the first English example? On the other hand, can the physician derogate from the duty of confidentiality in the attempt to protect human health by informing a person of a ex-partner’s severe and incurable genetic condition, thus opening a scenario of unpredicted genetic risk to children, as instead described in the second German example?

The Italian Rare Disease Observer (Osservatorio Malattie Rare - OMAR) asked three opinions on this matter: to Prof. Dalla Piccola, geneticist, to Avv. Maria Minotti, attorney, who both underlined that the right to privacy needs to be always protected, and to Dr. Ferdinando Squitieri, neurogeneticist, who believes the two different court cases highlight the same need to guarantee the culture of genetic counselling during a genetic test intervention.

Dr. Squitieri is Chief Scientific Officer of LIRH Foundation and Chair of the Huntington Unit at Casa Sollievo Research Hospital in San Giovanni Rotondo and CSS-Mendel in Rome. Here below his comment on the two cases:

In both cases, the only effective intervention would have been to follow the  international guidelines on genetic testing for HD, adopted by the scientific community after the gene discovery in 1993.

In the first case (England), there is an obvious contradiction: on one hand, there is a request from the father not to share with the daughter his genetic status, to avoid that she may have chosen to terminate her pregnancy; on the other hand, there is a public health structure that holds the responsibility of protecting a complex psychological condition by supporting both father and daughter and decides to the protect father‘s privacy over the pregnant daughter’s right to know and to eventually make her own choice to terminate the pregnancy. The hospital should have facilitated a conscious confrontation between the two parties, without privileging one over the other. The father had the right to keep secret his genetic condition, but he had no rights to put a third party (in this case the hospital) in the position to hide his secret, because in this case the border between an omission (by hospital) and a lie is very subtle.

In the second case (Germany), one more contradiction emerges: a woman sues the physician for informing her about her children genetic risk oh HD. It would have made more sense if the ex-husband (and not the ex-wife) would have sued the physician, or if the woman would have sued her ex-husband (and not the physician).

In my opinion, and based on my experience, both examples highlight a common denominator: the huge communication gap between families and counsellors. I strongly believe the health professionals (physician/counsellors) should play a key role in protecting privacy and health by driving people along such a complex pathway.

Proper counselling must try to avoid – as much as possible – to deal with such situations in the context of a courtroom. This is only possible if the ethical guidelines on genetic counselling are taken into account by expert counsellors and empathy is established between health professionals and the more fragile people, including at-risk individuals and their relatives”.