'What is my result?' Bioethical and clinical perspectives on the navigation process from raw genomic data to genomic results
Dr Rachel Horton
University of Southampton
In the past, genetic tests mainly focused on single genes that might explain a patient’s health problems. Genomic tests look through almost all the genetic code in one go, finding about four million variants per person. Scientists and clinicians need to pick out clinical 'results' from these variants, but many variants have unclear consequences, or might only affect health in the distant future. Some variants may have nothing to do with a patient’s current health problems but could still be important for them or their family.
My research will look at what we consider to be a result from genomic tests and how we decide which variants to include. I will look at the perspectives of patients, clinicians and scientists, aiming to inform evolving policy on how genomic results are picked out from genetic code.