Should families own genetic information? NoBMJ 2007; 335 doi: https://doi.org/10.1136/bmj.39252.392940.AD (Published 05 July 2007) Cite this as: BMJ 2007;335:23
- Angus Clarke, consultant clinical geneticist
Although genes will often be shared within a family, most specific items of genetic information will have been generated by examining or testing an individual. Such information will, inevitably, belong more strongly to that person than to his or her relatives. To claim that the information belongs to the family is to miss the point. In current practice, to make that claim asks the question that the test would usually be setting out to answer: is mutation M that is found in person P also present in relative, R? If it is present in R, then P and R share the particular genetic variant; otherwise they do not.
There are occasions when genetic information does belong intrinsically to the family. For example, in a genetic linkage study looking at the pattern of sharing of DNA sequences among family members, the results are meaningful only when the family is viewed as a unit. Genetic linkage studies can still be useful in a research setting but are now unusual in clinical practice, as most diagnostic genetic tests seek to identify mutations in known genes. I concede that this type of genetic information does in some sense belong to the family when it has formed part of a diagnostic test in a service setting, but that is a small concession. Furthermore, only the person for whom the result has been generated should be given the result—the others have no particular claim to be told the implications for that one person of their collective pattern of results. Except for the person being tested, the linkage analysis is unlikely to generate any very important information.
Duty of disclosure
Those who argue that genetic information belongs to the family because their genes are shared are guilty of the naturalistic fallacy—that “is” implies “ought.” I am not seeking to deny that family members have mutual obligations and should be prepared to share important medical information with their relatives, including genetic test results, as they usually do.
Two particular problems arise: firstly, when an individual fails to pass potentially important information to his relatives, such as the fact that he or his child has a serious genetic condition that may be present in other family members; and, secondly, when someone forbids health professionals to release or use genetic test results to provide more accurate or relevant medical advice to her relatives. These are very different types of information.
The first issue relates to the tension between the wish of some people to keep secret some of their medical history and their simultaneous obligation to disclose it to others, when it may be important for those others to find out about it. This is not specific to genetic issues but applies to sexually transmitted diseases, some other infectious diseases, and certain other environmental hazards such as chemical or radioactive contamination. Affected people are obliged to disclose such risks as soon as they realise that they may be a danger to others. If they fail to perform this duty, health professionals may have a duty to warn others instead. In many jurisdictions, legislation forces doctors to disclose information concerning some infectious diseases and also, in relation to driving, personal information about epilepsy and other potential problems.
Are genetic disorders sufficiently similar to infectious diseases—gonorrhoea, syphilis, HIV—that doctors have a similar duty to enforce disclosure by patients or clients to other members of their family? I would argue that they are not, even when we agree that disclosure would be highly desirable. The harm done by a failure to disclose will usually not entail an immediate and grave form of damage. While effective therapies are not available for most genetic conditions, the preventable harm to be avoided will often be the birth of a child with some physical or mental impairment or disease. Like the UK courts, I think there are many reasons to resist the recognition of “wrongful life” suits of this sort, including the implied disrespect for those affected by the condition in question.
The second contested area is rather different. Here, information has effectively passed through a family so that interested relatives know to approach their local clinical genetics service because of a particular disease or condition that has affected one or more family members. What has failed to pass through the family is the precise information about the mutation(s) causing the disease. Should the individual who has been tested first be able to forbid the laboratory from using its knowledge of the mutation(s) when testing other members of the same family? This would be an absurdity, forcing laboratories to issue incorrect reports out of some formulaic or bureaucratic sense of respect for privacy, when the relevant personal information is already known by all concerned. The genetic privacy has already been lost, and to treat the precise nature of the mutation as equally personal will be most unhelpful, potentially resulting in the needless repetition of expensive laboratory analyses.
In conclusion, I suggest that genetic information should be regarded as private and personal; to treat it as if it were owned in common by a body as vague and ill defined as “the family” is flawed. In the case of known disease causing mutations, however, the genetic information can be argued to belong to the laboratory or the health service that generates it and not to either the individual or the family.
Competing interests: None declared.