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Top Reads of 2024 Webinar

Wednesday, February 12, 2025
10:00 am PDT
1 hour

Explore the Latest in Clinical Genomics Research

Join us for an exciting, rapid-fire webinar series featuring Ambry Genetics’ clinical experts. Our panel will dive into some of the most impactful research published across clinical genomics in 2024, sharing key findings that can directly influence your practice.

With a journal club-style format, this engaging session will highlight breakthroughs in medical genetics and offer insights into emerging trends to watch in 2025. Don’t miss the chance to stay informed and inspired by the cutting-edge advancements shaping the future of genetic testing.

*CEU credit is not available for this webinar.*

Bibliography

  1. Dias K-R et al. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort. Genet Med. 2024. PMID: 38258669.​ Genome Sequencing for Diagnosing Rare Diseases & The performance of genome sequencing as a first-tier test for neurodevelopmental disorders 

  2. Chen et al. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024. PMID: 38991538​ Behind the Genes Podcast 

  3. Bhatt, K. et al. Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program. JAHA. 2024. PMID: 39575713​

  4. Roberts, A. et al. Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms. Genet Med. 2024. PMID:37982373​​

  5. Fortuno, C. et al. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines . Hum Mol Genet 2024. PMID:38271184​​

  6. Pal, T. et al. Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing. Hum NPJ Precis Onc 2024. PMID:39488595​​ Behind the Paper 

  7. Agaoglu NB, Bychkovsky BL, et al. Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes. Genet Med Open. 2024 Feb 14;2:101829. PMID: 39669588​ Research For Your Practice  

  8. Kotsopoulos J, et al. Bilateral Oophorectomy and All-Cause Mortality in Women With BRCA1 and BRCA2 Sequence Variations. JAMA Oncol. 2024 Apr 1;10(4):484-492. PMID 38421677​ JAMA Onc Editorial & NCI Blog 

  9. Lubinski J, et al. MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations. JAMA Oncol. 2024 Apr 1;10(4):493-499. PMID: 38421676​ JAMA Onc Editorial & NCI Blog 

  10. Mauer Hall CB, et al. Downstream Revenue Generated by Patients With Hereditary Cancer in the Multigene Panel Testing Era. JCO Oncol Pract. 2024 Dec;20(12):1695-1704. PMID: 38815190 NSGC Business Case for Genetic Counseling   

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Carrie Horton
Clinical Strategy Manager at 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 […]
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 9 years ago. During her time at Ambry, she first took on the role of reporting genetic counselor, performing variant assessment and generating test reports. She has also acted as a Senior Clinical Research Specialist, conducting studies that focus on the translational application of Ambry’s research to solve clinical dilemmas in the oncology setting. In her current role as Medical Science Liaison for Clinical Research, she coordinates multi-disciplinary and multi-institutional initiatives to improve engagement, promotion, and dissemination of key research findings. Ms. Horton’s research interests include improving the clinical utility of and increasing access to genetic testing.
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Marcy Richardson
Associate Director, Clinical Research at Ambry Genetics
Marcy Richardson graduated from Georgetown University with her PhD in Tumor Biology with research focused on the Wnt and Vitamin D pathways. Following a post-doctoral fellowship at the University of California, San Diego focusing on epigenetics, she began working as a Variant Assessment Scientist at Ambry Genetics in 2015. She focuses on cancer predisposition genes […]
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).
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Catherine Schultz
Clinical Strategy Manager at Ambry Genetics
Catherine holds a BS in Biology from the College of Charleston and an MS in Genetic Counseling from the University of Alabama at Birmingham. Her career began as a multidisciplinary genetic counselor in Birmingham, AL, where she gained substantial clinical experience. In 2016, Catherine joined Ambry Genetics as a Genomic Science Liaison, where she excelled […]
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 in Ambry in 2016. 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.