Cardiovascular disorder genetic testing in children presents unique challenges
"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," said Andrew P. Landstrom, M.D., Ph.D., FAHA, chair of the statement writing group, a pediatric cardiologist, a cardiovascular geneticist and an assistant professor of pediatrics and cell biology at Duke University School of Medicine in Durham, North Carolina. "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 multi-disciplinary approach to family counseling before and after testing, and we raise the importance of appropriate follow-up."
The statement writing group noted that pre-test counseling is essential in genetic testing of children. Before a decision is made about genetic testing, counseling should be held with the parents and with the child, if the child is old enough to fully comprehend and able to contribute to the decisions. Counseling should cover the possible benefits of genetic testing and the limits of the test's ability to help with diagnosis and management, along with the possible outcomes of testing, including the potential impact on care. Pre-test counseling should address the possibility that the genetic results may be inconclusive since there is still much to be discovered about the genetic components of many diseases of the heart. Clinicians must collaborate with the family to be prepared for all scenarios, before testing is conducted -- including a positive genetic test, a negative test or whether the test is inconclusive.
Pre-test counseling is also the time to address family concerns about possible medical costs or the possibility that genetic test results could lead to discrimination or an inability to obtain health insurance in the future. The statement details federal laws families should know about that can help to alleviate some of these concerns.
Post-test counseling and follow-up are also essential, according to the statement. After genetic test results are in, post-test counseling can be a time to explain the findings and plan how the information can be used in caring for the person affected, as well as proceeding with testing or treatment for other members of the family. Ongoing follow-up, possibly over the course of a lifetime, is also important because, in the rapidly evolving field of genetics, the understanding of a specific gene's significance may change 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. "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."
Reference:
Andrew P. Landstrom, Jeffrey J. Kim, Bruce D. Gelb, Benjamin M. Helm, Prince J. Kannankeril, Christopher Semsarian, Amy C. Sturm, Martin Tristani-Firouzi, Stephanie M. Ware. Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association. Circulation: Genomic and Precision Medicine, 2021; DOI: 10.1161/HCG.0000000000000086
