Patient Views about Consent, Confidentiality & Information-Sharing in Genetic Medicine.

Guest post by Sandi Dheensa, Angela Fenwick and Anneke Lucassen

Imagine you’re a clinician in genetic medicine.  For a while, you’ve been seeing Joe Bloggs, a patient with a mutation in a gene that’s caused a hereditary form of colon cancer.  As is your standard practice, you help Joe identify who in his family is also at risk and spend some time talking about how he’ll tell them.  The Bloggs’ are a large bunch: Joe has children, siblings, nieces, nephews, aunts, uncles, and cousins, all of whom might have the mutation.  Anyone who tests positive would be eligible for regular bowel screening, which – while not pleasant – makes it much more likely that any cancer will be caught at a  treatable stage.  Unfortunately, despite all this, you’ve reason to believe that Joe hasn’t told his relatives anything and now you’re unsure what to do.

What are your options?  You might say Joe’s confidentiality and autonomy are paramount: it’s up to him what he does, and, as his doctor, you’ve done your part by telling him the cancer is heritable.  Or you might argue that Joe’s family needs to know – but how  and when?  The GMC says you can share a patient’s personal information without consent if the benefit of doing so outweighs the risk: does the situation meet this criterion?  What if you share the information and Joe sues you for breaching his confidentiality?  But what if you don’t say anything and a relative develops a cancer that could’ve been prevented?  Won’t their trust in the health service be shaken if they knew you’d chosen not to share?  Indeed, the UK and Netherlands have recently seen cases where relatives  questioned the health service’s non-disclosure of relevant information.

Taking a “joint account” view of confidentiality from the outset would’ve avoided these situations.  The joint account involves viewing genetic and personal information as distinct: the possible inheritance of cancer is common to the whole Bloggs family, but that Joe has stage III bowel cancer is personal.  If genetic information is confidential to the family, not just the tested patient, you’d have told Joe upfront, before even drawing his blood, that you’d look into sensitive and appropriate ways to let his relatives know the information if they might benefit from it.  Later down the line, when it materialised he hadn’t told his family, it would’ve been easier to negotiate what to do.

In our recent JME paper, we explored the views of people affected by hereditary cancer and other conditions regarding the distinction between genetic and personal information, the levels of confidentiality afforded respectively, and healthcare professionals’ roles and responsibilities toward their patients’ relatives.

In line with the joint account approach, our interviewees considered their signs, symptoms, and diagnoses as personal, but thought genetic risk was familial and that their relatives needed to know about it.  This joint account approach appeared more intuitive to patients than HCPs whom we also interviewed in our wider research.  Participants were more inclined than HCPs to think of risks as meriting urgent disclosure even if the cancer was unlikely to arise for some years.  They were also more likely to say relatives should be told about risks for which there are no interventions (treatments, screens), because knowing could help them plan their lives.

Our participants weren’t completely gung-ho about sharing, however.  They were reluctant to speak for everyone and knew that some people might feel uncomfortable with HCPs sharing genetic information.  Another concern was whether routinely sharing genetic information would make it more normal and acceptable for HCPs to share other types of information too.  Nevertheless, participants’ bottom line was that, as much as possible, genetic information should be shared, because the downsides of sharing paled in compared with the benefits: protecting others from serious illness or death.

Although our study was relatively small and, being qualitative research, not generalisable in the same way as large-scale studies, it has shown there is value in HCPs taking the joint account approach and making it clear from the start that they’re doing so.  Our HCP focus groups indicate they’re reluctant to put the joint account into practice, because the norm of keeping individual confidences is so strong.  In the NHS, patients too are concerned about confidentiality and appropriate information-sharing, but in genetics, they perceive good reasons for confidentiality to have limits.

Most patients come to clinical genetics, at least in part, to benefit relatives, so it’s unlikely that many will have concerns about sharing.  If they do, HCPs should undoubtedly explore these.  But at least with a starting point of sharing rather than sharing only in exceptional circumstances, Joe’s relatives would have a better chance of appropriate health care.  We need to keep thinking about these issues as genetic testing is offered in more clinical areas, perhaps for so-called personalised treatments, where the familial implications may not be so explicit for both patients and their HCPs.


Read the full paper here.