23andMe At ASHG

Ed note: This post has been slightly changed since it first went up. We’ve also added in links to the posters that were presented at the conference. They are listed at the bottom of this post.

At this year’s American Society of Human Genetics meeting in Boston, a team of 23andMe scientists presented findings ranging from genetic associations of immune response and asthma, to a study looking at the genetics behind opioid-induced vomiting.

researchers

Top row, Nick Ericksson and Joanna Mountain; Second row, Chao Tian and Alena Shmygelska; And third row, Joyce Tung and David Hinds.

David Hinds, a Principal Scientist here, spoke about the study, filling in for 23andMe’s Senior Director of Research, Joanna L. Mountain. Unlike many other pharmacogenetic studies that focus on very small cohorts, this study included more than 2,400 individuals who reported that the opioid codeine triggered vomiting. The study had about 10,000 controls, or individuals who reported no problems taking the pain medication.

Beyond the relative robustness of the study, the research is also significant in that it looked at the genetics behind moderate side effects to a prescription drug.  Rarely done in pharmacogenetic studies, moderate side effects still play a huge role in the relative effectiveness of medication because they impact whether people actually use the drug as prescribed.

Nick Eriksson, a Principal Scientist at 23andMe, also spoke at the conference. Nick described how 23andMe uses correlated phenotypes to functionally classify different genetic associations. On occasion, a single genetic variant will be associated with multiple different phenotypes. For example, this occurs in autoimmune diseases, where a single SNP influences multiple different diseases. Sometimes these shared associations are more surprising, such as the genetic association shared by both Parkinson’s disease and baldness.

By leveraging the huge range of phenotypes that 23andMe customers have reported, we can search for other surprising shared associations and use those to cluster SNPs in functional categories. This in turn can give insight into the function of disease associated genetic variants. Using this method, we looked at correlations between breast cancer and breast size, body mass index and food choice, and hair color and skin cancer.

Our scientists also presented findings related to genetic associations with different immune responses, associations found in a very large study of genetics behind asthma, the associations with susceptibility to infectious disease, as well as genetic associations for uterine fibroids. Also on hand at the conference was 23andMe’s Senior Medical Director, Uta Francke, MD, who spoke at the conference about online genetic education and counseling.

Below the links to the posters presented at ASHG:

GWAS Analysis in a 23andMe Cohort Identifies Novel Associations with Uterine Fibroids, a poster presented by Alena Shmygelska

GWAS Identifies Classical HLA Alleles Associated with Susceptibility to Infectious Diseases, a poster presented by Chao Tian

A Large Scale GWAS of Asthma in the 23andMe Cohort, a poster presented by Dave Hinds

GWAS of Diverse Immune-Related Phenotypes Highlights Complex Overlapping Pathways of Immune Response, a poster presented by Joyce Tung






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