Challenges of genetic testing in adolescents with cardiac arrhythmia syndromes

Cohen, Lilian Liou; Stolerman, Marina; Walsh, Christine; Wasserman, David; Dolan, Siobhan M

doi:10.1136/medethics-2011-100087

Challenges of genetic testing in adolescents with cardiac arrhythmia syndromes

¹Department of Pediatrics, Division of Medical Genetics, Weill Cornell Medical College/New York Presbyterian Hospital, New York, New York, USA
²Ferkauf Graduate School of Psychology, Yeshiva University, Bronx, New York, USA
³Department of Pediatrics, Children's Hospital at Montefiore, Pediatric Dysrhythmia Center, Bronx, New York, USA
⁴Center for Ethics, Yeshiva University, New York, New York, USA
⁵Department of Obstetrics & Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA

Correspondence to Dr Lilian Liou Cohen, Department of Pediatrics, Division of Medical Genetics, Weill Cornell Medical College/New York Presbyterian Hospital, 10021, NY, USA; lilianlioucohen{at}yahoo.com

Contributors LLC and MS contributed equally to this paper as primary authors. LLC, MS, CW, DW and SMD contributed to the conception and design, acquisition of data or analysis and interpretation of data, drafting the article or revising it critically for important intellectual content, and final approval of the version published.

Received 8 July 2011
Revised 3 August 2011
Accepted 16 August 2011
Published Online First 27 September 2011

Abstract

The ability to sequence individual genomes is leading to the identification of an increasing number of genetic risk factors for serious diseases. Knowledge of these risk factors can often provide significant medical and psychological benefit, but also raises complex ethical and social issues. This paper focuses on one area of rapid progress: the identification of mutations causing long QT syndrome and other cardiac channel disorders, which can explain some previously unexplained deaths in infants (SIDS) and children and adults (SUDS) and prevent others from occurring. This genetic knowledge, discovered posthumously in many cases, has implications for clinical care for surviving family members who might carry the same mutations. The information obtained from genetic testing, in the context of personal and family history, can guide individually tailored interventions that reduce risk and save lives. At the same time, obtaining and disclosing genetic information raises difficult issues about confidentiality and decision making within families. We draw on the experience of the Montefiore-Einstein Center for Cardiogenetics, which has played a leading role in the genetic diagnosis and clinical management of cardiac channel diseases, to explore some of the challenging ethical questions arising in affected families with adolescent children. We focus on the related issues of (1) family confidentiality, privacy and disclosure and (2) adolescent decision making about genetic risk, and argue for the value of interdisciplinary dialogue with affected families in resolving these issues.