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Genetics Experience Summary

Genetics Experience Summary. NR.110.521A- CNS II July, 2013 Tania Randell , RN-BC, BSN. Location & Focus . Johns Hopkins Outpatient Center Cardiology Clinic Genetic Counselor sees patients with various types of structural Cardiomyopathy (CM) ARVD Dilated Hypertrophic Restrictive

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Genetics Experience Summary

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  1. Genetics Experience Summary NR.110.521A- CNS II July, 2013 Tania Randell, RN-BC, BSN

  2. Location & Focus  • Johns Hopkins Outpatient Center Cardiology Clinic • Genetic Counselor sees patients with various types of structural Cardiomyopathy (CM) • ARVD • Dilated • Hypertrophic • Restrictive • Non-compaction • Amyloid

  3. Typical Patients • Patients are referred by their Cardiologist who specializes in Cardiomyopathy • Genetic counselor works for this physician • If interested- • Initial phone call • Pedigree is done by email • Initial interview & description of testing • If patient agrees to Pan CM Panel, they return for explanation of results

  4. Case Study • 34 y/o AA Female diagnosed w/ Dilated CM @ 29 • Pregnant with twins (induce 12 wks early) • 10 siblings, Sister w/ CM • Other relatives- disease processes and deaths that are now questionable (strokes, “accident”) • Babies have 50% chance of developing CM • Testing only 20-30% chance of getting a definitive explanation for the CM

  5. Implications for APNs • Baseline knowledge of genetic testing • Referral information • Who is appropriate for referral • Collaborate w/ MDs

  6. Insights… • Races other than Caucasian and African American have a small pool (need more participants-what’s normal for their group) • Even when mutations are identified, only handful of results change treatment (ICD, frequent Echoes) • Most people do testing to help their families • Families w/ a great deal of disease are best to study (can find links between their genes) • Return yearly (science is developing rapidly)

  7. Reference Baxter S., Cirino, A, Funke, B., Ho, C., Hernandez A.L., Rehm,H., Seidman, C., & Seidman, J. (2013). Genetic Basis of Cardiomyopathy: A Guide for Patients and Families. Harvard Medical School Laboratory for Molecular Medicine, Cambridge, MA.

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