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The American Heart Association (AHA) has released its first scientific statement providing guidance on genetic testing for cardiovascular diseases in children. The Association points out that it was important to issue a pediatric-focused statement with the recognition that children and their families face unique challenges specific to gene testing.

“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,” said Andrew P. Landstrom, M.D., Ph.D., chair of the statement writing group, and a cardiovascular geneticist at Duke University School of Medicine in Durham, North Carolina.

The statement was published today in the Association’s journal, Circulation: Genomic and Precision Medicine.

“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 Landstrom.

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.

Pre-test 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 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.

Post-test counseling is the time to explain the findings and plan how the information can be used in caring for the person affected, as well as whether to proceed with testing or treatment for other members of the family.

Two main types of cardiovascular gene testing are provided to children: diagnostic and risk-predicting.

If, after a thorough cardiology workup, a child is strongly suspected of having a hereditary heart condition, a diagnostic genetic test may determine whether the child has a relevant gene variation. That will help guide decisions about how best to manage the condition, such as choosing a medication or recommending lifestyle changes.

The second type of testing, called risk-predictive testing, is done on a close relative, such as a sibling, parent or a child of a person with a genetic variant associated with a heart condition.

“If a relative is found to have the same gene variant that was determined to be the likely cause of disease in an affected family member, the relative may be at-risk for developing the same condition. This doesn’t mean they are guaranteed to develop the condition in the same way, or even that they will get the condition at all, just that they are ‘at-risk’, and they will need to be closely monitored because of this increased risk,” Landstrom said.

The statement also addresses gene-sequencing, which is increasingly used to test children in whom there is no suspicion for cardiac disease but may find such disorders or other genetic syndromes.

“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.

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