The role of the geneticist and genetic counselor in an ACHD clinic

Ashley Parrott, Stephanie M. Ware

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

There is a growing population of adults surviving with congenital heart disease due to the advancements in surgical repair and medical management. At the same time, the understanding of the genetic basis of both syndromic and isolated congenital heart disease has grown tremendously and is being rapidly translated into changes in clinical care, resulting in an increasing need for incorporation of genetic expertise into the care of adult congenital heart disease patients. Here we review the importance of delivery of genetic information to the adult congenital heart disease population and highlight the shared and distinct roles of clinical geneticists and genetic counselors in provision of services. The adult congenital heart disease patient population has unique needs and clinical geneticists and genetic counselors can play an important role in the diagnostic evaluation and assessment of these patients to provide an accurate etiologic diagnosis and to counsel regarding genetic testing, recurrence risk, family screening, and prenatal diagnosis.

Original languageEnglish (US)
Pages (from-to)15-20
Number of pages6
JournalProgress in Pediatric Cardiology
Volume34
Issue number1
DOIs
StatePublished - Aug 1 2012

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Keywords

  • Genetic counseling
  • Genetics
  • Recurrence risk
  • Syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

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