Understanding Genetic Counselors and the NSGC

Genetic counselors play vital roles in healthcare by assisting patients with genetic conditions, advocating for their needs, educating providers, conducting research, and influencing public policy. The National Society of Genetic Counselors (NSGC) supports genetic counselors in their professional endeavors, offering resources, education, advocacy, and networking opportunities to advance the field of genetic counseling and promote better health outcomes through genetics and genomics integration.

• Genetic counselors
• NSGC
• Healthcare
• Genetics
• Advocacy

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1. MHAUS Spring Board Meeting April 24th, 2020 Megan Betts, MS, CGC Licensed, Certified Genetic Counselor Geisinger-Genomic Medicine Institute

2. What is a Genetic Counselor Master s educated healthcare professional with expertise in inherited disorders and health communication Patient liaison: communicates complex genetics concepts into patient friendly language Patient advocate: helps in advocacy organizations to make sure patients and their families have appropriate access to accurate information and management guidelines Provider educator: ensure providers have access to our knowledge basis through ongoing efforts to streamline genetics care Researchers: Continued growth in clinical research to inform our practice and impact of genetic results on patient populations Public Policy: Improving access to genetics services for patients and families with hereditary disease

3. About NSGC The National Society of Genetic Counselors (NSGC) promotes the professional interests of genetic counselors and provides a network for professional communications. Access to continuing education opportunities, professional resources, advocacy and the discussion of all issues relevant to human genetics and the genetic counseling profession are an integral part of belonging to the NSGC. Mission: The National Society of Genetic Counselors advances the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services. Vision: Integrating genetics and genomics to improve health for all. https://www.nsgc.org/page/find-a-genetic-counselor

4. How is NSGC organized? NSGC Board of Directors NSGC Executive Office Appointed Work Groups (as needed) Special Interest Groups NSGC Committees Appointed Task Forces Subcommittees (Specific task-related)

5. Expanding our Outreach and Impact EveryLife Foundation FORCE Genetic Alliance Government Accountability Office Hastings Center Heart Rhythm Society HRSA Advisory Committee on Heritable Disorders in Newborns and Children Huntington Disease Society of America Imerman Angels LUNGevity National Academies of Sciences Roundtable on Genomics and Precision Health National Accreditation Program for Breast Centers National Advisory Council for Human Genome Research National Colorectal Cancer Roundtable Academy of Oncology Nurse & Patient Navigators National Consortium of Breast Centers National Down Syndrome Society NHGRI Lettercase Personalized Medicine Coalition Prenatal Genetic Testing Consortium Society of Gynecologic Oncology ABGC ACGC ACOG Committee on Genetics American Council of Life Insurers ACMG AGCPD All of Us American College of Surgeons Commission on Cancer American Heart Association American Society of Breast Surgeons ASCO CancerLInQ ASHG Association of Community Cancer Centers Basser Center for BRCA BCBSA Evidence Street CAGC CDC Community Oncology Alliance

6. Geisingers MH Identification Efforts

8. Population Health DNA Screening Disease Domain # of Cases 5 1 1 2 1 CDC Tier 1 Y Y Y Y N Gene Condition Summary of Returned Results Tests ordered: 949 Tests completed: 770 Positive Tests: 25 (3.25%) Results by Disease Domain BRCA2** MSH6* MSH2 PMS2** RET HBOC Lynch Syndrome Inherited Cancer MEN2 - thyroid cancer Paraganglioma- pheochromocytoma Li Fraumeni Tuberous Sclerosis Familial Hypercholesterolemia Arrhythmogenic right ventricular cardiomyopathy Long QT syndrome Hypertrophic cardiomyopathy Malignant hyperthermia SDHB 1 N TP53 TSC2 APOB LDLR DSG2 1 1 1 2 1 N N Y Y N 60% 40% Cardiovascular Disease 20% PKP2 2 N 0% KCNQ1 MYBPC3 MYH7 RYR1* 1 3 1 3 N N N N Cancer Cardio Other Other * Case positive for a variant in MSH6 and RYR1 ** Case positive for a variant in PMS2 and BRCA2 As of 04/6/20

9. Data from poster presented at SPAQI-March 2020

10. Lab information-MH testing The general coverage at 20x The general coverage on the exome platform at minimum 10X: The general coverage at 20x RYR1 and CACNA1S: 99.9% RYR1 and CACNA1S: 100% RYR1: 99.99% CACNA1S: 98.67% Cost of testing: $1500 for institutional billing and $250 for patient self-pay Cost of testing: $1,450 for institutional billing and $870 for patient self-pay Cost of testing: Contracted Geisinger rate - $2790.00 and $500 for patient self-pay Number of MH panels ordered in 2019. 6 cases in 2019

11. Future Directions Collaboration with Geisinger and NHGRI on population health genomic screening efforts Find MH efforts through partnership with clinical laboratory MH awareness day: community or national Continued efforts by NSGC to advocate for MHAUS being the organization our genetic counselors use for all MHS patients

12. Megan Betts, MS, LGC Thank you mnbetts@geisinger.edu 570-214-3308: Office Phone Twitter: @Meg_McMinn