Imagine a doctor tells you that you have a version of a gene called BRCA1 that means you have a high chance of developing breast and ovarian cancer. You might make choices about screening or surgery. You might tell your family so they can get tested too. But now imagine that new evidence suggests that your risk of cancer is far lower than was thought when you had your test a few years ago. Would you want to know?
People often expect genetic results to be certain, but sometimes this isn’t the case. As it gets quicker and cheaper to analyse the genetic code, we are gathering more data about the wide range of genetic variation, and finding that the context in which genetic variants are found can determine how serious they are. Our understanding can change even for variants in well-known genes like BRCA1: some of these have turned out not to be as closely linked to cancer as we thought a few years ago.
As clinicians researching ethical issues, we are interested in what should happen in situations like this. Should people be re-contacted if interpretation of their genetic results changes? How significant does the change need to be? We don’t want people’s health choices to be based on inaccurate information. But equally, contacting a person might be stressful for them, especially if they have already made big decisions based on their old result.
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Professional guidance on this matter comes from the European Society of Human Genetics, which published that relate to everyday medical care. Today, the American Society of Human Genetics publishes . This says that where researchers have previously communicated genetic results to participants, they should try to update them if the interpretation changes – especially if this might affect future medical care.
These guidelines are welcome, but they are just a start. In practice, doctors working in routine medical care are still working out how, and when, situations like this should be handled. Currently, each case is considered individually, which puts a great deal of responsibility on doctors. One improvement would be to tell people at the outset that the meaning of their genetic results could be overturned, so that being contacted again is not a surprise.
Responsibilities to re-contact people who have taken tests should extend to private genetic testing companies like 23andMe too, although here things are more complicated. These firms typically look at thousands of genetic variants and use them to place a person in a risk category. How far does a person’s risk have to shift before the company has to pick up the phone? The jury is still out on that, but for the moment companies could at least serve up their results with a much bigger pinch of salt.
