CSER Highlights @ ASHG 2021 Annual Meeting

CSER investigators are leading a number of posters and presentations that are featured in the upcoming American Society of Human Genetics Virtual Meeting 2021, which is held virtually and scheduled to run from Oct 18-22, 2021.

A full list of CSER work at the ASHG 2021 virtual meeting can be found online here in Google Doc format for easy reference, and are included below:

Poster sessions (Oct 18 2021)

• Henoke Shiferaw (ClinSeq). Poster PrgmNr 3116. Identification of polyadenylation signals relevant to Mendelian disease variant interpretation. (1:30 - 2:30pm ET).
• Sharon Plon (KidsCanSeq). Poster PrgmNr 3220. Does it make sense to report single pathogenic alleles in cancer susceptibility genes for childhood cancer patients? Results from the BASIC3 and Texas KidsCanSeq studies. (3:30 - 4:30pm ET)
• Anne Slavotinek (P3EGS). Poster PrgmNr 3800. Predicting Genes from Phenotypes using Human Phenotype Ontology (HPO) terms. (5:30 - 6:30pm ET)
• Boya Guo (CHARM). Poster PrgmNr 3751. Risk-reducing surgery in unaffected individuals receiving cancer genetic testing for hereditary breast and ovarian cancer in an integrated health care system. (5:30 - 6:30pm ET)
• Malia Fullerton (CSER Coordinating Center). Poster PrgmNr 3737. Clinical Sequencing Evidence-Generating Research (CSER) consortium Diversity and Inclusion Statement: development, revision, and adoption. (5:30 - 6:30pm ET).
• Hannah Lewis (CHARM). Poster PrgmNr 3736. Authorship Guidelines and Implementation: Promoting Equity and Inclusion. (5:30 - 6:30pm ET)
• Laura Amendola (CHARM). Poster PrgmNr 3620. Outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access. (5:30 - 6:30pm ET)
• Stephanie Kraft (CHARM). Poster PrgmNr 3739. Conducting clinical genomic medicine research during the COVID-19 pandemic: Lessons learned from the CSER consortium experience. (5:30 - 6:30pm ET).

Presentations & Scientific Concurrent Sessions

October 20 2021 (Platform Presentations)

• Michelle Thompson (SouthSeq) will be giving a platform presentation on "Genome sequencing as a first-line genetic testing in ill newborns". This will be part of a series of platform presentations on multidisciplinary -omics approaches for diagnostics (10:30am - 12:00pm ET).
• Galen Joseph (CHARM) will be giving a platform presentation summarizing results from a randomized control trial comparing usual care genetic counselling versus the Accessible, Relational, Inclusive and Actionable (ARIA) model of genetic counseling developed by the CSER CHARM study. This is part of a series of platform sessions on "Listening to the People". (10:30am - 12:00pm ET)

October 21 2021 (Invited Sessions)

• Malia Fullerton (CSER Coordinating Center) and Sandra Lee (CHARM) will be participating in an invited session on "Workforce diversity in genomics: Equity and the meaning of inclusion". (3:30 - 5:00pm ET)