By Philip E Baker and Jordan A Parsons.
Direct-to-consumer (DTC) genetic testing is becoming increasingly popular. However, with genetic testing comes the possibility of discovering mutations that confer increased risk of genetic diseases not only to the tested individual (the proband), but also their genetic relatives. This raises the challenging ethical question of what should be done if a proband’s relative is found to be at risk and that risk is somehow actionable.
There has been much ethical discourse about how clinicians should navigate these situations, but relatively little thought has been given to this dilemma in the context of DTC genetic testing. Currently, the duty (or right, depending on your perspective) to share such risk information with relatives falls on the proband. However, this is unenforceable and could result in the realisation of harm to relatives when prior knowledge of their genetic risk would have allowed some level of mitigation. Not only is there the risk of harm to the relative’s health, but social harms may arise depending on whether the proband shares this risk information (and this could be the case in both scenarios, depending on how well the information is received by those relatives).
In our article – From Proband to Provider: Is there an obligation to inform genetic relatives of actionable risks discovered through direct-to-consumer genetic testing? – we argue for a shift in responsibility for information sharing from proband to provider, placing a duty on DTC testing providers in the event of identified actionable risks to relatives.
First, we argue that DTC companies have the right to share information with the proband’s genetic relatives by applying Parker and Lucassen’s “joint account model”. This model holds that genetic information is inherently familial and that, therefore, the burden of proof ought to shift from sharing to not sharing. With this shared nature of genetic information established, we look to the rule of rescue to establish an obligation on providers to share actionable risks; the ability of providers to “rescue” at-risk relatives with minimal burden to themselves creates a moral imperative. Confidentiality concerns are navigated through a model of pre-emptive consent, requiring probands to both agree to the possibility of (maximally deidentified) information being shared and provide contact tracing information ahead of testing.
Even with this obligation, there is an important balance to strike between “rescuing” at-risk relatives and respecting their right not to know about the risk. To prevent undermining this right held by relatives, a stepwise process of communication is proposed. This allows the at-risk relative to decide how much information they wish to receive.
Whilst the model we detail may go some way to resolving the potential issues arising in these scenarios, unanswered questions remain. First, there is the question of test accuracy. The technologies used by some providers have notably high rates of false positives and negatives, with Professor Lucassen, Chair of the British Society for Genetic Medicine, stating that they are ‘more often wrong than right’. Despite the battery of disclaimers issued by DTC genetic testing providers, it remains that those seeking these tests are frequently motivated by a want to know more about their health and to potentially improve it. We are certain that more regulation of the industry is necessary, but the shape such regulation ought to take is a moot point.
There is also the question of physician-mediated services. Our article concerns services involving direct proband-provider interaction only, but some DTC genetic testing providers operate business models in which the tests are ordered by qualified clinicians. Our model is unlikely to be applicable in this context, as the involvement of a clinician significantly alters the dynamics of the interaction and raises a different set of ethical concerns. For example, would responsibility lie with the clinician or the provider (or neither)? Is a clear separation of duties even possible? Simultaneously navigating the proband-provider, clinician-patient, and clinician-provider relationships makes for an ethical minefield in need of sweeping.
Whilst we have proposed a system for communication of genetic risk to relatives, we have not fully explored some potential safeguarding issues that may arise. Relatives who are informed that they may be at risk may well choose to undergo testing themselves, presenting a novel revenue stream to the provider. Consequently, providers may “cautiously” favour informing relatives, including when it is not indicated. This risk of exploitation warrants further consideration, and appropriate regulation would be required.
Therefore, whilst our paper answers several important questions, it also raises many more that necessitate serious thought. As ease of access to and use of DTC genetic testing increase, we invite further engagement with the myriad ethical issues this poses.
Authors: Jordan A Parsons1 & Philip E Baker2
1Centre for Ethics in Medicine, University of Bristol, Bristol, UK
2Oxford Medical School, University of Oxford, Oxford, UK
Competing interests: None.