‘Whose test result is it anyway?’ New guidance for clinicians on ethics in genomic medicine

Consent and confidentiality in genomic medicine is an update of previously published advice. It covers a wide variety of situations that all healthcare professionals dealing with genetic and genomic information will face, as testing becomes more prevalent across the whole of medicine. The new edition includes real-life examples of ethical issues, and stresses how much these cases relate to the family situation of the person being tested or treated. While providing general advice, the guidance is clear that each case should be addressed individually.

The guidance gives examples of what to do in situations including:

• when a person is tested and the test results have implications for other family members
• when a person does not want, or finds it difficult, to tell other relatives information that may reduce their likelihood of disease or death, or is struggling to do so
• how familial information might be shared without revealing clinical information about the person whose information is being shared
• when a child’s test results have implications for their later life
• when test results reveal unexpected information. This might be about a disease that is completely unrelated to the reason for the test, or about the genetic relationships between people 
• suggests a uniform way of recording key features of a clinical consent discussion
• how new data protection laws and frameworks eg GDPR affect clinical practice in genomics.
• how legislation such as the Human Tissue Act affects access to stored samples for genetic testing
• what to do when the results and implications of genomic information are not clear enough to give definitive medical advice
• when to communicate new evidence about past genomic results.

The guidance aims to dispel common misconceptions about consent and confidentiality. As Professor Sir Jonathan Montgomery says in his Foreword:

‘The assumption that confidentiality towards individuals is always paramount is as inappropriate as the assumption that disclosure is always permissible, and any decision will need to be tailored to the individual circumstances of the case.’

The report also covers the use of genomic data for research, commercial and insurance purposes, and issues relating to keeping in touch with patients and relatives during their lifetime.

If in doubt about the right course of action, clinicians are advised to consult a relevant multidisciplinary team, experienced colleagues, their hospital’s clinical ethics committee and the national Genethics Forum as all can provide advice and support in thinking through ethically challenging cases.

This third edition of the guidance was written by Anneke Lucassen (Professor and honorary consultant in clinical genetics, Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, University Hospitals Southampton, UK; and chair of the British Society for Genetic Medicine) and Alison Hall (head of humanities, PHG Foundation, Cambridge, UK and chair of the Ethics and Policy committee of the British Society for Genetic Medicine).

Professor Lucassen said:

‘We hear a lot about the technical accuracy, speed and low cost of genomic testing, and expectations of the power of genomics to diagnose and predict run high. To do this justice, we also need a space to consider ethical issues raised by (for example) future and familial predictions from such testing. Many experts have been involved in producing this guidance, which we hope provides helpful, practical advice for the busy clinician dealing with genomic information.’

Ms Hall said:

‘We hope that this revised guidance will be a useful resource to support all health professionals using genetic and genomic tests, and to increase their understanding of the importance of consent and confidentiality when reflecting on their practice.’

Dr Helen Firth, chair of the Joint Committee on Genomics in Medicine and consultant clinical geneticist at Addenbrooke’s Hospital, Cambridge, said:

‘With the increasing use of genomic testing in medicine, this 2019 edition of the JCGM Consent & Confidentiality Guidance is very timely. Grounded in thoughtful consideration of ethical and legal principles, the case examples will enable clinicians to readily grasp how to apply this guidance in their clinical practice.’

Example of ethical dilemma

Case 16: Relative at risk of cancer

Josef was diagnosed with Lynch syndrome (a genetic predisposition to bowel and various other cancers) after developing bowel cancer in his thirties. He is estranged from his siblings and does not want to contact them to inform them that they may be at risk of Lynch syndrome. He is also unwilling for his doctor to do this, as he is sure that his siblings will work out that the information must have come from him, and he does not want them to know about his bowel cancer.

From the family history that Josef provided, his clinical genetics healthcare professionals know that one of Josef’s older sisters, Maria, has also had bowel cancer and is therefore also likely to have Lynch syndrome. If so, Maria would be at increased risk of developing other cancers, for example, endometrial cancer and so might benefit from a risk-reducing hysterectomy. The heritable aspect of the cancer is insufficiently common to be certain that Maria will herself have been tested for Lynch syndrome and so the question of alerting her of this familial tendency is considered.

Key points

• Here the wishes of Josef to keep his diagnosis of Lynch syndrome private must be balanced against the benefits to his wider family of making them aware of a potential inherited predisposition to cancer (allowing them to access bowel screening and interventions such as risk-reducing hysterectomy).
• The detection of Lynch syndrome in the family can be regarded as confidential on a familial level rather than information that uniquely identifies Josef. However, disclosure of this information may lead Josef’s siblings to conclude that Josef must have had cancer. Where possible, the information should be disclosed in such a way as to reduce the chance that the familial genetic information is seen to have come from Josef. For example, NHS tracing could be used to contact Maria’s GP to recommend that she is referred to a genomics service to investigate a possible genetic predisposition to cancer without revealing the source of that information.
• If genetic information is disclosed against Josef’s wishes, this should be explained to him, along with the reassurance that any disclosure would be kept to the minimum necessary to communicate the potential risk of cancer in other people in his genetic family.