The UK's 100,000 Genomes Project aims to sequence the genomes of people like Sophie Lewis, who has had a series of unexplained heart attacks, in the hopes that their genomes will shed light on their rare diseases, Motherboard reports.
Lewis was asked last year to take part in the project, which is being run by Genomics England, a company established by the Department of Health, and which is focusing on people with rare diseases like Lewis and on people with cancer, as well as their family members.
This, Motherboard says, will enable researchers and clinicians to diagnose those rare diseases as well as develop a dataset to scour for patterns to better understand rare diseases and cancer and that, perhaps, could point to new treatments.
"Obviously I absolutely was [interested in taking part], because I just thought it was marvelous there might be some chance of them finding out what condition I had, and test my family for it," Lewis tells Motherboard.
Another hope, Clare Turnbull, clinical lead for the cancer aspect of the project, says, is that using whole genomes for diagnosis will become part of the process at National Health Service centers.