PPT-Genomic/Genetic Testing Germline v Somatic testing and the importance of Molecular Tumor

Ben Ho Park MD PhD Johns Hopkins University Financial Disclosures I have financial relationships with commercial entities that are relevant to the content of this presentation Royalties from Horizon Discovery LTD. Molecular Pathology Director: Frederick Nolte, Ph.D.. Cytogenetics and Molecular Genetics Director: . Daynna. Wolff, Ph.D.. Medical Director: Cynthia Schandl, M.D., Ph.D.. Associate Director: Julie Woolworth Hirschhorn, Ph.D.. North Dakota Cancer Coalition Cancer Conference. May 18, 2011. Marie Schuetzle, MS, CGC. Larissa Hansen, MS. Objectives. At the conclusion of this presentation, participants should be able to. Identify individuals at risk for hereditary cancer. Rob Finch, MS, CGC. Certified Genetic Counselor. Medical Science Liaison. Myriad Genetic Laboratories. Somatic vs. Germline Mutation . Tumor Testing vs. Germline Testing . Tumor Biopsy . Blood Test . Dr Katie Snape. Joint Lead Consultant for Cancer Genetics,. South West Thames Regional Genetics Service. St George’s University Hospitals NHS Foundation Trust. Approval ID: GB-17285. Date of Preparation: June 2019. CancerGenetics@utsouthwestern.edu | 214 - 645 - 2563 Somatic and Germline Genetic Testing Somatic Testing Most cancer is the result of acquired, or somatic , mutations that occur in a cell. Cancers Table of Contents Background........................................................................................................................5 Preface........................................... Chad Ramsey. Vice President, Policy, Ovarian Cancer Research Alliance. Vanessa Cramer. Director, Policy, Ovarian Cancer Research Alliance. Sponsored by. : Genentech, Inc.. Agenda . Setting the table: Timeline & key terms . Notes from meeting: February 21, 2023. GOALS. Improve collaboration and documentation towards assessment and recommendations related to genetic and genomic testing in young women with breast cancer. Offer recommendations to improve value and service for the ACBCYW . Laura Yarram-Smith . Solid Tumour Lead SWGLH. July 2023. https://www.nbt.nhs.uk/south-west-genomic-laboratory-hub. Part of a Genomic Medicine Service. Bristol Clinical Genetics . Peninsula Clinical Genetics. Patient meets eligibility criteria as per . National Genomic Test Directory. . Take family history, consider drawing a family pedigree . Discuss gene testing and 3 possible results. Give information sheet to patient. Personalized medicine . from the . patient/pin-cushion . perspective. Jessica D. Tenenbaum, PhD. Duke University. Department of Biostatistics and Bioinformatics. @jessiet1023. Direct To Consumer Genetic Testing. testing . pathways. Format. Round table discussion . 5 working groups . –. Breast, Colorectal, Ovarian, Other, TP53. Three documents on table. Individual variant testing scoring form (all to complete). glioblastoma. genes and core pathways. By: Katie . Adolphsen. , Robin Aldrich, Brandon . Hu. , . Nate . Havko. The Cancer Genome Atlas: TCGA. Collaborative effort . $100 million pilot project. Funded by National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health. Version 1, January 2024 . (Pathway detail 5 in NOLCP v4). NOLCP. Maximum Times. Systemic anticancer treatment (SACT) for lung cancer is increasingly complex but has the potential to transform outcomes if it is given promptly when patients are still fit enough to benefit. Some patients deteriorate whilst waiting for tests to be completed and delays to full molecular analysis (including genomics and other markers necessary to choose optimum SACT) must be avoided. The time from acquisition of sample to full molecular report available to clinicians should be no more than 14 calendar days..