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Color at ASHG 2019

Alicia Zhou

Hello Houston! The Color team just touched down in Texas and we are excited for another great week of talks, posters, meetings, and discussions about all things genetics. We hope to see you at the Annual Meeting of the American Society of Human Genetics. Come and stop by, we are at booth #1326.

It’s going to be another packed schedule for us. Here is a quick rundown of Color’s presentations at ASHG 2019:

Towards comprehensive clinical genome analysis: incorporating monogenic and polygenic variation
Come and engage with us at our Clinical CoLab on the exhibit hall floor. Julian Homburger from our data science team will be giving a talk about exciting new research from Color on the contributions of monogenic and polygenic risk for breast cancer. In collaboration with Dr. Sek Kathiresan and Dr. Amit Khera, we found that monogenic and polygenic risk are independent and that the effects are additive, so if someone has high monogenic and polygenic risk, their risk would be even higher.
Clinical CoLab #1 (Booth #345) Thursday 10/17 | 1:45pm-2:15pm.

Impact of non-clinical genetic trait insights on clinical engagement in participants after clinical genetic testing
Reviewer’s Choice
Jeroen Van den Akker from our bioinformatics team is highlighting how non-clinical genetic reports, such as traits and ancestry, can engage people during the genetic testing experience. He found that Color participants who opt-in for non-clinical results tend to view and share their clinical reports more often than those that do not.
Poster 709T, Thursday 10/17 | 2:00pm-3:00pm

Delivering high-quality, scalable genetic counseling in international settings: case studies from Trinidad and Tobago and the United Arab Emirates
Lily Servais from our Medical Affairs team is presenting Color’s technology-driven, flexible genetic counseling delivery model. Using online tools and telephone-based counseling sessions, Color’s genetic counseling team has delivered counseling to participants in 53 countries outside the US. She will elaborate on small customizations to this workflow that allowed for counseling of two different cohorts based in Trinidad and Tobago and the United Arab Emirates
Poster 699T, Thursday 10/17 | 2:00pm-3:00pm

Common variant genetic background modifies risk of breast cancer among carriers of pathogenic germline risk variants
Julian Homburger from our data science team did a deep-dive on his Clinical CoLab presentation on the contributions of monogenic and polygenic risk. His data show that a polygenic score for breast cancer stratifies prevalence in people with and without monogenic risk. This phenomenon was also observed for coronary artery disease and colon cancer, suggesting that polygenic scores are an important additional risk factor.
Poster 799T, Thursday 10/17 | 2:00pm-3:00pm

Detecting Copy Number Variation on Low Coverage Whole Genome Sequencing
Lawrence Hon from our bioinformatics team explored an exciting possibility of using low coverage whole genome sequencing (lcWGS) to detect large scale copy number variations. lcWGS is a cost-effective and scalable way to survey genomes across large populations. Using lcWGS at~1x coverage, he showed successful detection of duplication and deletion events over 300 kb, and characterized intergenic copy number variations that differ between populations.
Poster 1607F, Friday 10/18 | 1:00pm-2:00pm

An integrated end-to-end platform for engaged population-scale research
Cynthia Neben from our Scientific Affairs team described the core architecture elements that large research institutions and national programs should consider when implementing a population genomics program. These include the three systems — laboratory systems, reporting and data management, and clinical services — that support participant recruitment and experience. By not “reinventing the wheel”, program leadership can avoid unnecessary costs and complexity and instead focus on the most differentiating aspects of their program and the scientific and clinical questions at hand.
Poster 696F, Friday 10/18 | 2:00pm-3:00pm


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