Clinical Genomics Research Round-Up: Expert Snapshots of 10 Impactful Publications of 2023

• Join three experts from Ambry's clinical team for this rapid-fire journal club format. Each host will summarize some of the top research published across clinical genomics in the last year. Catch up to the latest information that can impact your practice, and learn what we're looking forward to in 2024.

  Bibliography

  1. Chung, C., et. al. Meta-analysis of the Diagnostic and Clinical Utility of Exome and Genome Sequencing in Pediatric and Adult Patients with Rare Disease Across Diverse Populations. Genet Med. 2023. PMID:37191093 Learn more here 

  2. Greene, D., et.al. Genetic Association analysis of 77,539 Genomes Reveals Rare Disease Etiologies. Nat Med. 2023. PMID: 36928819

  3. Gunter, C. and Green, E. To Boldly Go: Unpacking the NHGRI’s bold predictions for human genomics by 2030. Am J Hum Genet.2023. PMID: 37922881 Learn more here

  4. Horton, C., et.al. Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing. JAMA Oncol. 2023. PMID:37924330 Learn more here

  5. Kurian, A., et.al. Germline Genetic Testing After Cancer Diagnosis. JAMA. 2023. PMID:37276540 Learn more here

  6. Rehm, H., et.al. The Landscape of Reported VUS in Multi-gene Panel and Genomic Testing: Time for a change. Genet Med. 2023. PMID:37534744 Learn more here

  7. Seagle, H., et.al. Clinical Multigene Panel Testing Identities Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients with Early-Onset Colorectal Cancer. J Clin Oncol. 2023. PMID: 37319387 Learn more here

  8. Walker, L., et.al. Using the ACMG/AMP Framework to Capture Evidence Related to Predicted and Observed Impact on Splicing: Recommendations from the ClinGen SVI Splicing Subgroup. Am J Hum Genet. 2023. PMID:37352859 Learn more here

  9. Webster, E., et.al. Chatbot Artificial Intelligence for Genetic Cancer Risk Assessment and Counseling: A Systematic Review and Meta-Analysis. JCO Clin Cancer Inform. 2023. PMID:37934933

  10. Yadav, S., et.al. Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2. J Clin Oncol. 2023. PMID: 36623243

Carrie Horton, MS, CGC | Presenter

Sr. Medical Science Liaison - Clinical Research

Ambry Genetics

Ms. Horton received her M.S. in Genetic Counseling from Arcadia University and practiced clinically as a cancer genetic counselor in Memphis, TN prior to joining Ambry Genetics 6 years ago. As a reporting genetic counselor at Ambry, she performed variant assessment, generated reports for oncology tests, and curated clinical literature for report content. In her current role as Sr. Medical Science Liaison, she designs and conducts studies focusing on the translational application of Ambry's research. Ms. Horton's research interests include improving the clinical utility of and increasing access to genetic testing.

Marcy Richardson, PhD | Presenter

Associate Director, Clinical Research

Ambry Genetics

Dr. Marcy Richardson graduated from Georgetown University with her PhD in Tumor Biology in 2009. Dr. Richardson then joined the University of California, San Diego as post-doctoral fellow researching epigenetics. She began working as a Variant Assessment Scientist at Ambry Genetics in 2015 where she focused on developing variant classification guidelines and investigating complex variants in cancer predisposition genes. Currently, as Associate Director, Clinical Research, Dr. Richardson leads a team that is focused on the analysis and dissemination of genetic data to advance science and medicine. In this role, she guides both independent research and fosters collaborations around the globe. Dr. Richardson participates in and has a leadership role in several expert panels including ENIGMA, GA4GH, and the BRCA1/2 and APC ClinGen Variant Curation Expert Panels (VCEPs).

Catherine Schultz, MS, CGC | Presenter

Sr. Medical Science Liaison - Medical Genetics

Ambry Genetics

Catherine received her MS in Genetic Counseling from the University of Alabama at Birmingham and practiced clinically as a multidisciplinary genetic counselor in Birmingham, AL prior to joining Ambry 7 years ago. As a Genomic Science Liaison for the Southcentral United States, she served as a clinical liaison for the field team to educate health care providers on genetic testing and genomic medicine. In her current role as a Sr. Medical Science Liaison, Catherine engages key opinion leaders and members of the medical and scientific community to advance the development of novel testing approaches and improve the utility of existing clinical tests.