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Review
. 2016 Mar-Apr;24(2):49-55.
doi: 10.1097/CRD.0000000000000081.

A Case for Inclusion of Genetic Counselors in Cardiac Care

Affiliations
Review

A Case for Inclusion of Genetic Counselors in Cardiac Care

Patricia Arscott et al. Cardiol Rev. 2016 Mar-Apr.

Abstract

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.

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Conflict of interest statement

Conflicts of Interest:

For the remaining authors none were declared.

Figures

Figure 1
Figure 1
Integrating a genetic counselor into clinical care. Flow chart depicts referral through genetic counseling and evaluation, determination of testing (or not), result disclosure, to communication of information to family members and referring providers. White boxes indicate decision points related to genetic testing. The genetic counselor may coordinate testing for family members once a positive mutation is identified.
Figure 2
Figure 2
Pedigree examples for case 4 (A), and case 5 (B). Arrow indicates individual presenting for genetic counseling (proband). Standard pedigree notation using circles for females and squares for males. Filled symbol represents affected individual. Diagonal line indicates individual is deceased.

References

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    1. Caleshu C, Day S, Rehm HL, et al. Use and interpretation of genetic tests in cardiovascular genetics. Heart. 2010;96:1669–1675. Case-based discussion of principles and approaches to best use of genetic testing in cardiovascular genetics.

    1. Dunn KE, Caleshu C, Cirino AL, et al. A clinical approach to inherited hypertrophy: the use of family history in diagnosis, risk assessment, and management. Circ Cardiovasc Genet. 2013;6:118–131. Assessment and description of family history assessment as dynamic, ongoing process relevant to cardiovascular genetics care.

    1. Ingles J, Yeates L, Semsarian C. The emerging role of the cardiac genetic counselor. Heart Rhythm. 2011;8:1958–1962. Extensive description of development of, current role, and ideal role of genetic counselor in cardiovascular genetics.

    1. Ingles J, McGaughran J, Scuffham PA, et al. A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy. Heart. 2012;98:625–630. Assesses cost-effectiveness of including genetic screening for family members in comparison to clinical screening alone.

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