Recent advances in genetic testing for heritable cardiac diseases have led to an increasing involvement of the genetic counselor in cardiology practice. We present a series of cases collected from a nationwide query of genetics professionals regarding issues related to cost and utilization of genetic testing. Three themes emerged across cases: (1) choosing the most appropriate genetic test, (2) choosing the best person to test, and (3) interpreting results accurately. These cases demonstrate that involvement of a genetic counselor throughout the evaluation, diagnosis, and continuing management of individuals and families with inherited cardiovascular conditions helps to promote the efficient use of healthcare dollars.
From the *Department of Internal Medicine, University of Michigan, Ann Arbor, MI; †Stanford Center for Inherited Cardiovascular Disease, Palo Alto, CA; ‡Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; §Department of Medicine-Cardiology, University of Minnesota Physicians, Minneapolis, MN; ¶Center for Individualized Medicine, Mayo Clinic, Rochester, MN; ‖University of Wisconsin School of Medicine and Public Health, Madison, WI; **Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH; ††Yale Cardiovascular Genetics Program, Yale Cardiovascular Research Center, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT; ‡‡Division of Cardiology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN; §§North Memorial, Humphrey Cancer Center, Robbinsdale, MN; ¶¶Mayo Clinic, Rochester, MN; ‖‖Department of Genetics, Yale University School of Medicine, New Haven, CT; ***Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN; and †††Section of Genetics, Rush University Medical Center, Chicago, IL.
Disclosure: Michael J. Ackerman, MD, PhD, is a consultant for Boston Scientific, Gilead Sciences, Metronic, and St. Jude Medical. MJA and Mayo Clinic receive royalties from Transgenomic with respect to their FAMILION-LQTS and FAMILION-CPVT genetic tests. Katie Spoonamore, MS, CGC, is supported by the Indiana University Health–Indiana University School of Medicine Strategic Research Initiative. Coleen Caleshu, MS, CGC, is a consultant for Recombine, Gilead, GeneDx, and Myokardia, advisor for Invitae, stockholder in Personalis and receives royalties from genome interpretation technology. The other authors have no conflicts of interest to report.
Correspondence: Patricia Arscott, MS, CGC, Inherited Cardiomyopathy Program, University of Michigan Health System, 1500 E. Medical Center Drive, SPC 5856, Ann Arbor, MI 48109-5856. E-mail: firstname.lastname@example.org.