Dr Kathryn Leask
Can a doctor disclose a patient's genetic information to family members at risk of an inherited condition? Dr Kathryn Leask explores the issues surrounding genetics and confidentiality.
As genetic and genomic medicine progresses and becomes more integrated into mainstream medicine, new questions arise for doctors about patient confidentiality.
The GMC's guidance states that 'doctors owe a duty of confidentiality to their patients, but they also have a wider duty to protect and promote the health of patients and the public'.
Although most patients will willingly share information about their health with their relatives – particularly if, as with genetic information, this may have implications for family members – some may not be as forthcoming. The patient may refuse consent for disclosure, or the consent may have been given some years previously and its validity may now be in question.
While patient confidentiality is of utmost importance and there is a public interest in making sure patients are able to trust doctors with sensitive personal data, under certain circumstances this may be outweighed by a public interest in sharing information, where not doing so may result in serious harm to others.
A recent case related to the daughter of a patient who had been diagnosed with Huntington's disease. She brought a clinical negligence claim against the relevant hospital trusts as she had not been told of her father's diagnosis, despite her being at 50% risk of having inherited the condition.
The daughter became pregnant and later found that she also carried the mutation associated with Huntington's disease. For individuals in this position, although the condition cannot be cured, their reproductive decisions may be influenced by the fact that they have inherited the mutation. The daughter relied on joint clinical guidance1 to support her case, which reiterates the guidance to doctors from the GMC.
The Court of Appeal found that 'it was arguably fair, just and reasonable to impose on clinicians treating a patient with Huntington's disease a duty of care to disclose his diagnosis to his daughter, given that the condition was inherited'.2
Other situations may arise, for example, where a patient is found to have a mutation which increases the risk of developing breast cancer or bowel cancer.
A patient had recently undergone genetic testing for BRCA gene mutations due to a strong family history of breast and ovarian cancer, including her late mother, and having developed breast cancer herself at a relatively young age. She tested positive for the mutation but due to an acrimonious relationship with her mother's side of the family, she refused to allow her GP or clinical genetics service to disclose this information to other relevant family members.
The GP had been involved in the extended family's care for a number of years and was aware of further children the patient's mother had had with another partner. The GP was keen to inform these individuals of the potential risk, and felt that he had a duty of care to them and should give them the opportunity to seek testing if appropriate.
As the patient had not had any contact with her estranged half-siblings, they were not aware of her diagnosis and therefore the GP was able to contact the relatives to advise them of a possible risk without disclosing her identity.
Where a patient's identity cannot be protected, but there is a significant risk of harm to other individuals, the doctor will need to weigh this risk with the problems associated with breaching confidentiality. If there is enough justification to disclose information without consent, the patient should be advised of this and given an explanation as to why the disclosure is believed to be justified. As well as discussing these difficult decisions with colleagues, doctors can also seek advice from the MDU.
When deciding whether or not to breach the patient's confidentiality it's important to consider whether an individual who is denied the knowledge about their own risk could then miss out on vital preventative measures, such as screening, to identify signs of the disease early. For example, patients who carry a BRCA gene mutation, which significantly increases their risk of breast and ovarian cancer, may wish to opt for prophylactic surgery to reduce their risk.
In these cases, it may be possible to disclose information to other family members at risk, without disclosing the identity of the index case.
1. Royal College of Physicians, The Royal College of Pathologists, The British Society of Human Genetics. Consent and confidentiality in clinical genetic practice: Guidance on genetic testing and sharing genetic information (A report of the Joint Committee on Medical Genetics), 2nd edition, September 2011.
2. ABC v (1) St George's Healthcare NHS Trust (2) South West London & St George's Mental Health NHS Trust (3) Sussex Partnership NHS Foundation Trust (2017).
Dr Kathryn Leask
BSc (Hons) MBChB (Hons) LLB MA MRCPCH FFFLM DMedEth
Kathryn has been a medico-legal adviser with the MDU since 2007 and is a team leader, trainer and mentor in the medical advisory department. Before joining the MDU, she worked in paediatrics gaining her MRCPCH in 2002 and did her specialty training in clinical genetics. She has an MA in Health Care Ethics and Law, a Bachelor of Law and a Professional Doctorate in Medical Ethics. She is also a fellow of the Faculty of Forensic and Legal Medicine and has previously been an examiner and Deputy Chief Examiner for the faculty exam. Kathryn is currently a member of the faculty's Training and Education Subcommittee.
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