AHA issues recommendations on pediatric genetic testing for heritable CVDs
Click Here to Manage Email Alerts
The prevalence of clinical genetic testing is rising; therefore, the American Heart Association has issued guidance on the use, ethics and timing of pediatric genetic testing for heritable CVDs.
Published in Circulation: Genomic and Precision Medicine, the statement also addressed topics such as consent for pediatric genetic testing, pre- and post-testing family counseling and follow-up of CV genetic test results.
“There is growing recognition that a genetic test is not a simple blood test where you get a ‘yes’ or ‘no’ answer. With this statement, we illustrate some of that complexity, particularly as it relates to cardiovascular diseases passed from parents to children,” Andrew P. Landstrom, MD, PhD, FAHA, pediatric cardiologist, cardiovascular geneticist and assistant professor of pediatrics and cell biology at Duke University School of Medicine, and chair of the statement writing group, said in a press release. “We provide consensus-based recommendations for best practices and principles to assist health care professionals in determining when cardiovascular gene testing is appropriate in children, highlighting the need for a multidisciplinary approach to family counseling before and after testing, and we raise the importance of appropriate follow-up.”
Consent or assent for genetic testing
According to the statement, the broadening availability of clinical genetic testing has led to a rise in pediatric patients who are undergoing testing for CVDs, and raises complex issues of consent, family concerns, timing and scope of testing, and more.
Multiple professional societies concluded that parents should delay genetic testing for adult-onset conditions until their child reaches adulthood or is old enough to provide assent and to participate in decision-making. However, the AHA writing committee posits that delaying genetic testing until assent or consent can be obtained cannot be indiscriminately applied to heritable CVDs, since presentation can occur in early childhood.
According to the statement, prompt diagnosis of heritable CVDs during childhood allows clinical management, which may improve outcomes.
Recommendations for clinicians
The writing committee offered the following recommendations for pediatric CV genetic testing:
- Comprehensive pre- and post-testing counseling should always be a component of heritable CVD risk prediction and ought to occur in or in partnership with a specialized multidisciplinary setting (adult and pediatric cardiologists, genetic counselors, geneticists, behavioral health specialists, etc).
- Diagnostic genetic testing should only be considered among children with a high risk for CVD.
- Children should undergo risk-predictive genetic testing only after identification of a pathogenic/likely pathogenic variant in a family member with CVD.
- The timing of pediatric CV genetic testing should also account for disease-specific considerations such as disease penetrance, risk for pediatric disease presentation, availability of effective therapies or lifestyle modifications and risk for psychological distress to the family attributed to uncertainty.
- Continued follow-up of pediatric CV genetic test results is important to reevaluate or confirm variant pathogenicity over time.
“Pediatric genetic testing has important considerations beyond those of adult testing, including the vulnerability of children as a population, and these considerations should be at the forefront of all decision-making about genetic testing,” Landstrom said in the release. “Other considerations include the dynamics within the child’s family, the family’s goals and concerns, potential psychosocial effects of testing (or not testing) and the current state of genetic testing methods. Additional factors to help inform the decision-making process to ensure the best outcomes for children and family members are the characteristics of the specific heritable cardiovascular disease, the likelihood and timing of disease development, the availability of therapies and interventions that can treat or prevent disease, and the availability and cost of testing.”
Please see the full AHA scientific statement for details regarding specific disease states and special cases such as prenatal genetic testing, at-home testing and secondary genetic findings.
References:
- Botkin JR, et al. Am J Hum Genet. 2015;doi:10.1016/j.ajhg.2015.05.022.
- Committee On Bioethics, Committee on Genetics, The American College of Medical Genetics and the Genomics Social, Ethical and Legal Issues Committees. Pediatrics. 2013;doi:10.1542/peds.2012-3680.
- Ross LF, et al. Genet Med. 2013;doi:10.1038/gim.2012.176.
Collapse
Click Here to Manage Email Alerts