Genetics Experience

Summary

NR.110.521A- CNS IIJuly, 2013Tania 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 Non-compaction Amyloid

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

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

Implications for APNs

Baseline knowledge of genetic testing

Referral information

Who is appropriate for referral

Collaborate w/ MDs

     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)

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.