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The University of Southampton
Clinical Ethics, Law and Society

Research project: Consent and confidentiality in genetic medicine

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Should healthcare professionals have a responsibility to ensure patients' relatives are aware of genetic risk? What kind of consent is required before genetic information is shared? And how might sharing information affect patient confidentiality?  

The impact of genetic test results

The Joint Committee on Genomics in Medicine (JCGM) has national guidelines regarding these matters, Consent and Confidentiality in Clinical Genetic Practice guidelines, but empirical data is limited. We therefore explored health professionals and patients’ views. 

We conducted 16 focus groups with genetics health professionals (n=80) and over 30 interviews with patients who have been tested for a range of conditions and gene mutations, including breast Cancer, (BRCA), hereditary non-polyposis colorectal cancer (HNPCC), and familial adenomatous polyposis (FAP). 

We have found that healthcare professionals and patients think genetic information should ideally be confidential to families, not individuals, because keeping individual confidentiality could constrain relatives’ comprehension of risk and ability to make informed decisions about testing. 

Familial confidentiality and sharing information are difficult for health professionals to put into practice, due to limited time and infrastructure, as well as concerns about disrupting family dynamics. Sharing information across genetic services is also problematic, because of variations in what patients have given consent to, and how consent has been documented. 

Based in part on this research, the JCGM guidelines are being updated. 

We have also surveyed over 1,600 participants regarding their experiences of taking part in the 100,000 Genomes Project. The results of this survey will be published soon.

For further information please contact Dr Lisa Ballard



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