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Pediatric Cardiovascular Genetic Testing Should Be Individualized, Multidisciplinary, Says AHA

NEW YORK — An individualized approach should be taken to determine whether to conduct cardiovascular genetic testing in children, according to a new scientific statement from the American Heart Association. 

Genetic testing, an AHA working group noted, can be performed as a diagnostic test in an individual suspected of having a cardiovascular genetic disease or as a test to gauge risk for a relative of someone with a pathogenic or likely pathogenic variant and cardiovascular disease. But children present a special ethical case, as they may be too young to consent or assent to testing and as some conditions might not pose a risk until adulthood. 

By sifting through the available literature, the working group developed a set of recommendations for pediatric cardiovascular genetic testing. In Circulation: Genomic and Precision Medicine, the working group said other factors such as disease penetrance, the likelihood of the condition developing during the pediatric years, and the availability of treatments should be considered in the decision-making process.

"Genetic testing should be done in the context of a comprehensive clinical evaluation which is tailored to the child, their medical history, and their family's medical history," first author Andrew Landstrom, a pediatric cardiologist and a cardiovascular geneticist at Duke University School of Medicine, said in an email. "This is best done in a multidisciplinary fashion with cardiology experts, medical genetic experts, genetic counselors, and other healthcare providers." 

Generally, the working group said pediatric genetic testing for cardiovascular conditions should be guided by how likely is that the disease may present in childhood, the potential for mortality during childhood, whether there are therapies available, and the family's values. 

In particular, diagnostic genetic testing of children should occur when there is a high likelihood of a cardiovascular condition, as in many cases, genetic testing can help refine clinicians' diagnostic suspicions and guide treatment options, they said. 

For instance, familial hypercholesterolemia, characterized by extremely high levels of low-density lipoprotein cholesterol, is one of the most common inherited cardiovascular diseases and is caused by variants in the LDLR gene. The working group noted that identifying individuals with FH when they are young can lead to the use of lipid-lowering therapies and lifestyle interventions. Children with FH who started on statin therapy have a lower risk of atherosclerotic cardiovascular disease than their affected parents. Because of this, they suggested that children suspected of having familial hypercholesterolemia should be offered genetic testing as a diagnostic test. 

Meanwhile, the group noted that parents should wait to conduct risk-predictive genetic testing for an adult-onset disease until the child reaches adulthood or is old enough to participate in the decision-making process and provide assent.

However, some conditions can develop during childhood and even for adult-onset conditions, there may be lifestyle changes or therapies that can be started at a younger age. In the case of children with a family member with genetically confirmed FH, they suggested that risk-predictive genetic testing be conducted as well as lipid screening. 

These decisions, the working group said, should be considered in consultation with a multidisciplinary team. Landstrom said that such teams are becoming increasingly more accessible, particularly with increased adoption of telemedicine approaches. "Because of the central role that a patient-specific comprehensive clinical evaluation plays in determining whether gene testing should be done, and what scope of testing is ideal, engaging teams of specialists who can support this evaluation is important," he said. 

The working group also emphasized the need for pre- and post-test counseling. Landstrom added that children should be involved in counseling, when possible, though noted that as children and families differ, the statement does not provide an exact age when children should take part. "Rather, we highlight that when a child can reasonably understand the rationale for genetic testing, as well as the implications of what genetic testing may find, they should be part of this counseling," he said.

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