Article Text
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.
- Genetic screening/testing
- predictive genetic testing
- paediatrics
Statistics from Altmetric.com
Footnotes
Funding National Heart, Lung, and Blood Institute (RC1HL100756).
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.
Request Permissions
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Copyright information:
Linked Articles
- The concise argument
Read the full text or download the PDF:
Other content recommended for you
- Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: Is sporting disqualification really necessary
- Territory - wide cohort study of Brugada syndrome in Hong Kong: predictors of long - term outcomes using random survival forests and non-negative matrix factorisation
- Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement
- The multifaceted cardiac sodium channel and its clinical implications
- Sudden death and ion channel disease: pathophysiology and implications for management
- Cardiac channelopathies: diagnosis and contemporary management
- Return to play? Athletes with congenital long QT syndrome
- Sudden cardiac death among competitive adult athletes: a review
- Aborted sudden death in a young male
- Sudden cardiac death and inherited channelopathy: the basic electrophysiology of the myocyte and myocardium in ion channel disease