Additional findings and WGS: patient, family members and health professional perspectives . (360G-Wellcome-110486_Z_15_Z)

Whole-genome sequencing (WGS) is being offered to NHS patients with rare diseases as part of the 100,000 genomes project - a hybrid clinical research venture. Clinical interpretation of sequence variants is improved by comparison with parental samples, so these will be analysed at the same time, wherever possible. Diagnosing the presenting disease is the primary aim, but parents will also be offered separate tests that predict other, possibly unexpected, conditions such as cancers/heart disease, or risks to future children. The results from some of these additional findings will only be disclosed if both parents are carriers of the same condition (couple results) since it is only then that future pregnancies would be at risk. These are all new practices for the NHS. The practical and ethical issues raised urgently need scrutinising. This project aims to sow the seeds for a collaborative award (CA-PIs Farsides/Williams/Parker/Lucassen) by capitalising on an early cohort of patients recruited to the 100,000 genomes project to identify research questions and methodology for the larger project. This work builds on our existing empirical ethics research on incidental findings and consent and confidentiality in genetic medicine, and thus forms a natural and timely progression.