With thanks to Jackie Evans, Mel Kershaw and Emma Wolfenden, a few words on signing up for the 100,000 Genomes project…
I’ve taken part in several research studies over the years, the first being a comparative study of Ciclosporin and Sirolimus to which I enrolled on the day of my kidney transplant in 2003. Most rewardingly, I became a guinea pig in Dr Cristina Vasilica’s GMKIN study (Greater Manchester Kidney Information Network) and, prior to last week, I most recently signed up to the OuTSMART Study for HLA Antibodies post Renal Transplant.
Last week, I was asked if I’d like to take part in the 100,000 Genomes Project by Sister Jackie Evans, a research nurse at Salford Royal Hospital. The project’s aim is to sequence the genomes from approximately 70,000 people with certain types of cancer or rare diseases. Participants will also be encouraged to involve family members in the study. I was asked to take part because I have a relatively rare inherited condition, ADPKD (Autosomal Dominant Polycystic Kidney Disease), which affects between 1 and 2 people in 1,000 in the UK.
This project excites me enormously, for while its outcomes may not benefit me, they may lead to new insights into the genomics of rare conditions, which may, in turn, trigger the development of new treatments or cures.
The enrolment process was easy. Each aspect of the study, from the privacy of my medical records through to how long it would take to carry out my genome sequence was explained in detail. The paperwork was completed in a matter of minutes and the recruitment process finished following a couple of blood samples.
You can read more about the 100,000 Genomes Project, and if you’re invited to take part, jump at the chance to make a significant contribution to future healthcare. If you have ADPKD, Alport Syndrome or atypical haemolytic-uraemic syndrome (aHUS) and are a patient at Salford Royal interested in the project, speak to your consultant for further information about the study.
