Additional findings and whole genome-sequencing: patient, family members and health professional perspectives

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. In WGS, clinical interpretation of sequence variants is improved by comparison with parental samples, so these are analysed at the same time wherever possible. Diagnosing the presenting disease is the primary aim of this work, but parents are also 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 are only 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, and the practical and ethical issues they raise need scrutinising urgently.

This project aims to sow the seeds for a Wellcome Collaborative Award 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.