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The University of Southampton
Clinical Ethics and Law at SouthamptonResearch

Research project: Additional findings and whole genome sequencing

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Whole-genome sequencing (WGS) has been offered to NHS patients with rare diseases as part of the 100,000 genomes project - a hybrid clinical research venture.

DNA

Interpreting a patient’s genome sequence is made easier if it is compared with parental samples, so WGS has been offered to parents as well as patients where possible. Diagnosing the presenting disease is the primary aim, but patients and parents have been offered a host of separate, additional tests that predict other, possibly unexpected, conditions. These include tests for inherited cancers and cardiac diseases. Couples who plan to have more children can also have carrier tests for conditions like Cystic Fibrosis, which could affect future children. These results will be disclosed only if both parents are carriers of the same condition since it is only then that future children would be at risk. These are all new practices for the NHS and the ethical and social issues raised urgently need scrutinising.

Through a combination of observations, questionnaires, interviews, and focus groups, we are exploring questions such as: what are families and health professionals’ understandings and expectations of additional findings? What can help families make decisions about them? What is the impact of additional findings on NHS service delivery?

Our aim is to help determine good practice for consent and feedback of these additional findings. This work contributes to the Practical Ethics strand of the Ethics and Social Science Genomics England Clinical Interpretation Partnership (GECIP).

For further information please contact Dr Lisa Ballard

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