Genetic information and confidentiality

In the latest in our series on the GMC's new confidentiality guidance, MDU medico-legal adviser Dr Kathryn Leask explores confidentiality and genetics.

According to a recent Court of Appeal judgment ‘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’.

Patient confidentiality is of utmost importance and there is a public interest in ensuring patients are able to trust doctors with sensitive personal data. However, the judgment highlights that 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.

GMC confidentiality guidance

In its confidentiality guidance the GMC acknowledge the difficulties faced by clinicians where information is known about a patient, such as genetic information, which may have implications for other members of the patient’s family. 

With the progress that is being made with genetic and genomic medicine, and as this becomes more integrated into mainstream medicine, there is likely to be an increase in the amount of genetic information about a patient that is relevant to other individuals. It is therefore important for GPs to be aware of the potential dilemmas raised by genetic testing.

The Court of Appeal case concerned 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 decision to have children may be influenced by the fact that they have inherited the genetic mutation. The daughter relied on joint clinical guidance to support her case, which reiterates the guidance to doctors from the GMC.

Possible dilemmas

As part of the genetic counselling process, before investigations are carried out, it is helpful to discuss with patients the potential need to disclose relevant genetic information to relatives who may be at risk. In some cases, the patient may refuse consent to disclose the information, or the consent may have been given some years previously and the validity of it may now be questionable.

Other dilemmas may arise, for example, where a patient is found to have a mutation which increases the risk of developing breast cancer or bowel cancer. 

When deciding whether or not to breach the patient’s confidentiality it is important to consider whether an individual who is denied the knowledge about their own risk, could then miss out on vital preventive measures, such as screening, to identify early signs of the disease.

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 patient’s identity, as in the case below.

Decisions about whether to disclose information about genetic conditions to family members can be create a difficult dilemma. Your medical defence organisation can help you to manage the risks involved.

Case study

A patient had recently undergone genetic testing for BRCA gene mutations due to having developed breast cancer herself at a relatively young age and having a strong family history of breast and ovarian cancer, including her late mother.

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 cared for the extended family and was aware that the patient’s mother had children 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 offer them the opportunity to be tested for the gene mutation.

As the patient had not had any contact with her estranged half-siblings, they were not aware of her diagnosis. Following advice from the MDU, the GP contacted relatives to advise them of a possible risk without disclosing the patient’s identity.

Where a patient’s identity cannot be protected, but there is a significant risk of harm to other individuals, the clinician will need to weigh this risk with the problems associated with breaching confidentiality. If there is sufficient justification to disclose information without consent, the patient should be advised of this along with an explanation of why the disclosure is believed to be justified. 

As well as discussing these difficult decisions with colleagues, GPs can also seek advice from their medical defence organisation.

Read the rest of this series
When can GPs disclose information to the police?
> What can GPs tell family members?
> Disclosing information within the healthcare team
> Email security and patient confidentiality

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