Earlier this month, we had our second Understand Your Genome (UYG) event, and once again it was just amazing to participate in one of the most stimulating, relevant, and future-looking meetings that I have ever attended. We heard from a variety of thought leaders in clinical sequencing and genetics, including Eric Topol, Howard Jacob, Greg Tsongalis, Birgit Funke, Tina Hambuch, Euan Ashley, Bob Best, and Bonnie LeRoy on topics ranging from digitizing human beings, to establishing the first CLIA whole-genome sequencing (WGS) laboratory, to novel variant assessment and genetic result reporting in the post-genome era. Though these talks, themes such as the clinical utility of genome sequencing, intricacies of the whole-genome sequencing process, ethics in the genomic era and the role of genetic counseling in genomic vs. genetic testing were circulated. This event also expanded on the consumer genomics discussion with talks from Ancestry.com, 23andMe, and Genophen.
While at its core, UYG maintained the integrity of the original event, there were some distinct differences, and the attendees brought the meeting alive in a completely new way. The audience included a diverse set of attendees, including physicians, clinicians, pathologists, researchers, bioinformaticians, genetic counselors, ethicists, media representatives, and investors from industry, academia, and the public. Awareness and enthusiasm about the UYG events and clinical sequencing appears to be spreading, with the participants far more representative of the global arena, including attendees from Peru, India, Turkey, Australia, Germany, and Brazil. The sense that we are at a pivotal moment in medical history with clinical genomics increasingly being incorporated into patient care was brought up repeatedly throughout the meeting and seemed interwoven into almost every discussion.
As with the first UYG, the majority of the attendees had their genome sequenced by the Illumina Clinical Services Laboratory (ICSL), clinically assessed for a subset of genes, and displayed to them on an iPad via the MyGenome application. For the 2012 event, variants within 344 genes from attendees’ genomes were assessed. This time, our team significantly expanded the gene set to include 1,600 genes with known implications in over 1,200 conditions. The individuals attending the event are assumed to be generally healthy; therefore, the scope of the assessment performed on the 1,600 genes is different than what is performed when there is a specific disease or phenotype being investigated. For the UYG participants, the whole genome sequencing clinical report essentially provides results for predisposition and carrier screening tests across 1,600 genes. For this gene set, every variant within the exons, plus or minus 15 base pairs, is clinically classified as one of six different categories, ranging from pathogenic to benign. Any variants that are classified as potentially clinically significant are included in the clinical report that is returned to the ordering physician. Variants within the clinical report are split into two groups – those that are clinically significant in the patient, or those that affect carrier status and may have implications for family members.
There were so many aspects of the meeting and the process we went through to generate the clinical reports, that it is difficult to capture or indeed, to consume it all in a few short paragraphs. Therefore the content will be split into several different postings that will be released over the next few weeks and months, I hope you will come back to hear more!
Are you interested in getting your whole genome sequenced at the next UYG? Hurry and join us in the United Kingdom UYG Event on September 12-13, or back in San Diego on November 11-12.