Genetic Testing for CVD in Children: AHA Statement Suggests Focus on Multidisciplinary Care

A new expert statement on genetic testing for cardiovascular disease in children emphasizes decision-making with a multidisciplinary care team and recommends individualizing the offering and timing of such tests, dependent on the diagnosis being sought as well as the child’s and family’s needs.

“Genetic testing, especially for children, should never occur in a vacuum,” lead author Andrew Landstrom, MD, PhD (Duke University School of Medicine, Durham, NC), told TCTMD. “We try to highlight a number of different considerations for the practitioner, for the families, and for the child, bearing in mind that children are much different than adults. They cannot consent. They can, at a certain age, provide their agreement or assent, but because of that they are uniquely vulnerable to a number of things that you have to keep in mind before you gene test.”

In the statement, published last month in Circulation: Genomic and Precision Medicine on behalf of several American Heart Association (AHA) committees, Landstrom and colleagues outline their recommendations culled from the available evidence on both diagnostic and risk-predictive genetic testing for four main heritable disease categories: channelopathies, cardiomyopathies, familial hypercholesterolemia, and aortopathies.

“The motivation behind doing this now is that over the past few years we have seen a really rapid advancement in genetics and the ability of clinicians to access genetic testing,” Landstrom explained, adding that these tests are more frequently being offered to children. “Looking through the literature, there really was not a singular document that provided some consensus guidelines for practitioners.”

Counseling, Multidisciplinary Care

The first take-home message from the statement relates to what should happen before a diagnostic gene test is even offered, he said. Specifically, if a certain genetic disease is suspected, the provider should assess both the patient’s and the patient’s family history as well as conduct a physical exam “tailored to what the disease suspicion is,” Landstrom explained.

“Because these diagnoses can be hard to make—these are rare diseases after all—we advocate that multidisciplinary teams that specialize in heritable cardiovascular diseases should be included whenever possible as part of this evaluation,” he said. “These teams are made up of pediatric cardiologists, medical geneticists, behavioral specialists, and genetic counselors, and can help the provider to comprehensively evaluate the child and to help interpret whether genetic testing is indeed warranted.”

The patients and family should also undergo genetic counseling ahead of the test in order to determine a course of action no matter if the result comes back positive, negative, or inconclusive, the authors say. They then should undergo counseling following the result to implement it.

The optimal timing of administering these tests can be more pressing, for instance if the suspected disease can have immediate implications for the child. If not, the decision to test could be left to when the child is older and might be able to provide consent and not simply assent, Landstrom said.

For risk-predictive testing, which is generally offered after a diagnostic gene test comes back positive in a family member, “the timing of that is nuanced,” Landstrom said. “It depends a little bit on the child and the family. It depends a little bit on the diagnosis in question, on the goals of the family, and what the child wants.

In general, all genetic tests “encompass a diversity of diagnoses, and that's why it's hard to make a one-size-fits-all approach to cardiovascular testing in children,” he explained, which is why statement breaks down guidance by disease type, even though the genes associated with various conditions are always in flux.

Ultimately, Landstrom concluded, genetic testing “shouldn't be viewed as a yes or no kind of a test but rather something that talks about probability of disease and relies upon this comprehensive evaluation. And because it's so complex, we really value having individuals who can come together from a variety of different expertise to interpret a gene test, to determine when it's best to do gene testing, and all of that means better care for the child and family.”