Genetic testing is becoming a standard part of UK healthcare, with plans to expand its use. But who does this information belong to, and who decides who it is shared with?
Huntington’s Disease is a progressive illness affecting key parts of the brain. The loss of a specific type of neuron results in patients gradually losing control of their movements and experiencing a slow mental decline into dementia over a period of years. Although symptoms can be managed, there is no treatment or cure for this condition.
Huntington’s Disease is caused by specific variations in a single gene – Huntington. Individuals with a mutation in only one copy of this gene will go on to develop Huntington’s Disease, and any children they may have will also have a 50% chance of developing it.
A genetic test for Huntington’s Disease has existed for several decades. If you thought you were at risk of developing this condition would you want to know? Would you want your children to know? For some families this is much more than a philosophical dilemma – it is their life.
In 2009, a man in the UK detained in a forensic psychiatric unit for the manslaughter of his wife, was diagnosed with Huntington’s Disease. He instructed his doctors not to share this information with his daughter, who was pregnant the time, as he feared she may terminate the pregnancy. Respecting his confidentiality, the medical team did not inform her of her father’s diagnosis. The daughter continued with her pregnancy, and in 2013 was herself diagnosed with Huntington’s Disease. Known as ABC, she subsequently sued St George’s Healthcare NHS Trust in London, for neglecting its duty of care to her, claiming that she would have made different reproductive choices if she had known that she might also develop Huntington’s Disease.
Genetic testing and its results raises a myriad of issues for health professionals. The duty of care to a patient and maintaining their confidentiality are two cornerstones of clinical practice. But in the case of genetic information, these DNA sequences are inherited from our parents, and shared with siblings and other family members. Can confidentiality remain paramount when a life-changing diagnosis may also affect others? And what about the duty of care to these family members? Connecting Science’s Society and Ethics Research team have been asking people in the UK for their opinions.
In a survey of almost 2,500 British citizens (who were census-matched to ensure they represented the wider British public), it was apparent that there was strong support for healthcare professionals to share genetic information with a patient’s relatives, even if there was no agreement from the patient themselves. From those questioned, 37% agreed that information should only be shared if there was agreement from the affected relative; but 40% agreed that information should be shared even when there was no agreement. Interestingly, these British attitudes are in contrast to others across the globe, and particularly in the USA and Israel, where patient confidentiality is still viewed as an overriding principal and there is significant disapproval for information sharing without consent.
For ABC, her legal journey concluded last week, when the High Court ruled that the decision not to tell her about her father’s diagnosis was supported by a “responsible body of medical opinion”. However, the implications for both patients and professionals are significant. The case has highlighted that there are already guidelines for healthcare professionals in the UK around patient confidentiality and what should be done if this needs to be breached. This guidance, from bodies such as the General Medical Council, already asks doctors to balance the risks and benefits to individuals and society when considering the need to breach patient confidentiality. In the ABC case, Mrs Justice Yip also concluded that it is “fair, just and reasonable” to require clinicians to undertake this balancing act – changing a professional expectation into a legal requirement.
The broad public support in the UK for sharing genetic information with family members may influence how healthcare professionals view balance, risk and benefit. And although this judgement also made clear that there was no responsibility to track down distant family members to share health-related information, it will be interesting to see how expectations in this regard evolve as genetic data becomes ever more pervasive.