A Review of the Emergence and Expansion of Cardiovascular Genetic Counseling

  • Tia MoscarelloEmail author
  • Colleen Caleshu
Genetics (A.T. Owens and N. Reza, Section Editors)


Purpose of Review

The genetic counseling profession is growing rapidly, as is its presence in cardiology. In this review, we will survey recent innovations and research in cardiovascular genetic counseling, as well as findings from the broader genetic counseling field that are relevant to cardiovascular genetic counseling.

Recent Findings

Research into the structure of services finds that genetic counselors are increasingly being embedded within cardiology departments and that cardiologists value their expertise and contributions. Findings from other genetic counseling subspecialties and from clinical psychology suggest this trend toward moving genetic counselors into the cardiology clinic will increase access, timeliness, and uptake of genetics services. Studies on the selection and interpretation of genetic tests in cardiology have shown that there is a need for specialized expertise in these areas. This has led clinical genetic counselors, in collaboration with their physician colleagues, to take a more active role in assessing whether genetic variants contribute to disease. Evidence on the psychological and behavioral impact of cardiovascular genetic counseling is beginning to emerge with several non-randomized and one randomized study showing benefit. As investigators, genetic counselors are leading studies that generate practice-shaping insights into inherited cardiovascular disease, including the genetic underpinnings of disease, natural history, prognosis, psychological impact, and genetic test interpretation.


Genetic counseling is in its early days as an academic and scientific discipline, yet there are, nonetheless, several notable recent findings that are shaping the field.


Genetic counseling Cardiac genetics Interdisciplinary care Genetic testing Service delivery Cardiovascular genetic counseling 


Compliance with Ethical Standards

Conflict of Interest

Tia Moscarello declares she has no conflicts of interest. Colleen Caleshu declares intellectual property and receives royalties for genome interpretation technology; she is a stockholder of Personalis, an advisor to Phosphorus and Gene Matters, and a consultant for Clear Genetics and Myokardia.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Stanford Center for Inherited Cardiovascular DiseaseStanford Health CareStanfordUSA
  2. 2.Division of Medical GeneticsStanford University School of MedicineStanfordUSA
  3. 3.Division of Cardiovascular MedicineStanford University School of MedicineStanfordUSA

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