Abstract
How an individual’s genetic information is governed by confidentiality, and how the interests of others—such as close relatives—in knowing such information might be respected, has been the topic of much debate ever since genetic testing has become more prevalent. In this paper, two authors who often appear to have different views on familial disclosure, discuss where they agree on this topic.
Highlights
G the genetic test for the relative, significantly improving the positive and negative predictive values of the genetic test in the relatives
Laboratory-generated information be treated as of the same status as the clinical information about individual patients? We realised that here might lie a solution to resolve at least some of our differences. Whilst such results are usually given the same status as clinical information about particular patients, because a person’s name and other identifying details will be on the report, we wondered whether a system might be devised where that technical report was made available to members of a family without all of the identifying details: “Members of family X can seek advice about genetic testing with this anonymised result to guide their care”
Different perspectives exist about the status of genetic information concerning one individual, that may be important and relevant to the healthcare of other family members
Summary
John has familial adenomatous polyposis (FAP) confirmed through mutation testing. Whilst this might be a de novo mutation, and so the relevance for siblings and parents is not yet clear, for John’s three children (aged 10, 13, and 15 years), each has a 50% chance that they have inherited the condition and would benefit from regular gastrointestinal surveillance for polyps and tumours, followed by surgical removal of the colon when polyp burden becomes high. AL, whilst she agrees with these points, considers that the communication surrounding heritable risks can be handled differently: in the ABC case, had the professionals involved separated the clinical diagnosis from the genetic one, they could have called upon factors already known to the daughter—the symptoms she could see in her father, her family history of these symptoms—to hint at a possible inherited condition: “it is possible that his symptoms might be explained by an heritable factor; if you would like to know more, we can refer you to a genetics service” This needs not to have involved any breach of confidence at all and could have alerted her to information that she—in retrospect—would have wanted, and which in any case could not have been kept a secret forever. The judge in the ABC case was not convinced that the daughter would have had a termination—despite her evidence— suggesting that the judge too considered this a different type of intervention to bowel surgery to reduce the risk of cancer
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