Communication of genetic information to families with inherited rhythm disorders

Charlotte Burns, Cynthia Anne James, Jodie Ingles

Research output: Contribution to journalArticle

Abstract

Given the dynamic nature of the electrical activity of the heart and ongoing challenges in the diagnostics of inherited heart rhythm disorders, genetic information can be a vital aspect of family management. Communication of genetic information is complex, and the responsibility to convey this information to the family lies with the proband. Current practice falls short, requiring additional support from the clinician and multidisciplinary team. Communication is a 2-part iterative process, reliant on both the understanding of the probands and their ability to effectively communicate with relatives. With the surge of high-throughput genetic testing, results generated are increasingly complex, making the task of communication more challenging. Here we discuss 3 key issues. First, the probabilistic nature of genetic test results means uncertainty is inherent to the practice. Second, secondary findings may arise. Third, personal preferences, values, and family dynamics also come into play and must be acknowledged when considering how best to support effective communication. Here we provide insight into the challenges and provide practical advice for clinicians to support effective family communication. These strategies include acknowledging and managing genetic uncertainty, genetic counseling and informed consent, and consideration of personal and familial barriers to effective communication. We will explore the potential for developing resources to assist clinicians in providing patients with sufficient knowledge and support to communicate complex information to their at-risk relatives. Specialized multidisciplinary clinics remain the best equipped to manage patients and families with inherited heart rhythm disorders given the need for a high level of information and support.

Original languageEnglish (US)
Pages (from-to)780-786
Number of pages7
JournalHeart Rhythm
Volume15
Issue number5
DOIs
StatePublished - May 1 2018

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Communication
Uncertainty
Inborn Genetic Diseases
Aptitude
Family Relations
Genetic Counseling
Genetic Testing
Informed Consent

Keywords

  • Communication
  • Genetic counseling
  • Genetic testing
  • Multidisciplinary care
  • Uncertainty

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

Cite this

Communication of genetic information to families with inherited rhythm disorders. / Burns, Charlotte; James, Cynthia Anne; Ingles, Jodie.

In: Heart Rhythm, Vol. 15, No. 5, 01.05.2018, p. 780-786.

Research output: Contribution to journalArticle

Burns, Charlotte ; James, Cynthia Anne ; Ingles, Jodie. / Communication of genetic information to families with inherited rhythm disorders. In: Heart Rhythm. 2018 ; Vol. 15, No. 5. pp. 780-786.
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