Excited to have shared our analysis of ACMG SF genes in 144K Geisinger MyCode participants at #ACMGMtg22. Detection rate increased by 35% between SFv2.0 to v3.0 (2.29% to 3.09%), PALB2: 8% of all cancer results. TTN: 26% of all cardio results (only A-band TTNtv). Geisinger Research

Ecstatic to finally share the 1st manuscript from our systematic review on genetic testing for HCM - the culmination of 5 yrs with an amazing group! Susan Christian Allison Cirino @BrittanyPHansen Stephanie Harris Jennifer Malinowski, PhD Genetic Counselors #CardioGen #GeneChat openheart.bmj.com/content/9/1/e0…

Grateful for the opportunity to present this work at #HRS2022 and excited to continue learning from the MyCode population with Chris Haggerty at Geisinger Geisinger Research

Excited to share our work examining FLCN LoF variants and phenotype rates in a healthcare system population Geisinger Research

Sharing our work demonstrating that screening for P/LP variants associated with endocrine tumor syndromes (MEN1, MEN2, VHL, PCC/PGL) in MyCode enabled id of individuals at risk, led to risk management, and facilitated relevant dx #populationscreening #genechat Geisinger Research

The 2nd paper from our #HCM systematic review is out w/ a focus on uptake + utility of genetic counseling and testing. This caps a great multi-year collab! Susan Christian Stephanie Harris @BrittanyPHansen Melissa A Kelly Jennifer Malinowski, PhD doi.org/10.1002/jgc4.1… #CardioGen Genetic Counselors

Excited to be presenting my first ACMG poster on HCM at the #ACMGMtg23

Our amazing cardio GC Kristy DiLoreto presenting an initial look into rates of cardiomyopathy within MyCode at Geisinger Research. #CardioGen #ACMGMtg23

2nd year Geisinger Commonwealth School of Medicine student Tyler Singer presenting on “Characterization of MyCode Participants with Pathogenic or Likely Pathogenic Variants in ENG, ACVRL1, or SMAD4 Associated with Hereditary Hemorrhagic Telangiectasia” from MyCode Geisinger Research #ACMGMtg23