Posted on 12 April 2021 by CSER Coordinating Center ยท News

CSER investigators are leading a number of posters and presentations that are featured in the upcoming American College of Medical Genetics and Genomics (ACMG) Annual Cinical Genetics Meeting 2021, which is held virtually and scheduled to run from April 13 - 16, 2021.

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

Presentations & Scientific Concurrent Sessions

April 14 2021 @ 5:56 - 6:09pm ET (Virtual Meeting VR3 - Genetic Counseling Session)

  • Jessica Ezzell Hunter (CHARM) will be giving a platform presentation on "Barriers to Knowledge of Family History and Family Communication Among LGBTQ+ Individuals in the Context of Hereditary Cancer Risk Assessment". This will be part of a series of platform presentations on genetic counseling (5:30 - 7:00pm ET).

April 15 2021 @ 10:00 - 10:10am ET (Virtual Meeting VR1)

  • Kathryn Phillips (P3EGS) will be giving a platform presentation on "Worldwide Exome and Genome Sequencing: Who Has Access, Who Pays, and What are Solutions for Implementation Challenges?". This is a part of a series of featured platform presentations (10:00 - 11:00am ET).

April 15 @ 3:30 - 5:00pm ET (Virtual Meeting VR4). Scientific Concurrent Session: Unexpected Findings Across the Lifespan: Challenges of Reporting Incidental & Secondary Findings in Young  Patients

  • CSER investigators Melissa Wasserstein (NYCKidSeq), Kevin Bowling (SouthSeq), and Anna Hurst (SouthSeq) will be giving presentations as part a scientific concurrent session on the challenges of reporting additional findings in young patients. This session is led by the CSER Sequence Analysis and Diagnostic Yield (SADY) working group, in collaboration with other investigators. This session will discuss issues with informed consent, detection, interpretation, and return of unexpected findings, and will highlight the associated challenges and burdens.

Posters

  • Laura Amendola, poster eP317. Genomic Sequencing Results Disclosure in Diverse and Underserved Populations: Themes, Challenges and Strategies from the CSER Consortium
  • Kevin Bowling, poster eP177. SouthSeq: Genome sequencing as a frontline genetic test in the NICU
  • Lauren Desrosiers, poster eP064. Germline Findings Based on Patient Phenotype of the Texas KidsCanSeq Cohort: An Interim Analysis
  • Amanda Thomas-Wilson, poster eP409. Expansion of the genotype and phenotype of NALCN channelopathies: an individual with biallelic variants in NALCN from the NYCKidSeq Study
  • Saurav Guha, poster eP354. Novel microdeletions in the SOX5 gene in two patients with Lamb-Shaffer syndrome phenotype in the NYCKidSeq Study
  • Maggie Waltz, poster eP466. The Impact of COVID-19 on Pediatric Diagnostic Odysseys
  • Tamara Roman, poster eP404. Re-analysis of Exome Sequencing Data for Patients with Epilepsy in the NCGENES Cohort

  • Lisa Spees, poster eP530. Testing and Extending Recommended Algorithms for Identifying Genetic Disease-Related Encounters in Pediatric Patients

  • Bradford Powell, poster eP398. Making the Case For Higher-level Classification of Results Reporting: Development and Implementation of Case-level Result Categories for Genetic Testing

  • Tia Kauffman, poster eP517. Successful Recruitment of Medically Underserved Populations into Genetic Studies: Lessons Learned from the CHARM Study

  • Anne Slavotinek, poster eP233. Predicting Genes from Phenotypes using Human Phenotype Ontology (HPO) terms 

  • Sarah Scollon, poster eP070. Clinical and Molecular Features of Pediatric Cancer Patients with Lynch Syndrome