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Cardiomyopathy Genetic Testing in Minors Has No Ill Effect on Family Dynamics, Study Finds

NEW YORK — Informing children or adolescents of their cardiomyopathy genetic testing results does not adversely affect family dynamics, a new study has found.

Children with a personal or family history of cardiomyopathy may undergo genetic testing to confirm a diagnosis or gauge their risk of disease. Early testing can help inform their medical management, but as researchers from Columbia University noted, it is unclear what effect receiving such genetic testing results may have on children and their families, prompting them to conduct a survey.

"As a medical geneticist caring for children with a personal or family history of cardiomyopathy, understanding how young people and their parents process the genetic test results and adjust after genetic testing are critically important," Wendy Chung, senior author of the new study and professor of pediatrics at Columbia, said in a statement. The results appeared in Circulation: Genomic and Precision Medicine this week.

She and her colleagues surveyed 154 parents of children who underwent genetic testing for cardiomyopathy. Of those, 100 received diagnostic and 54 predictive genetic testing.

Most parents in both groups said their child was informed about undergoing genetic testing, though more children receiving diagnostic testing were actively involved in the decision to be tested than those undergoing predictive testing. Additionally, most parents in both groups said they told their child what their test result was.

Whether they disclosed the result varied based on the type of result — for the diagnostic genetic testing group — and how old the child was. Nearly 80 percent of parents whose child had a positive result through diagnostic genetic testing informed their child of that result, but only about a third from that group told their child of a result involving a variant of uncertain significance.

The researchers additionally found no difference between genetic testing results and family functionality among families with children who underwent diagnostic testing. They did note, though, a link between genetic testing results and family functionality in the predictive testing group. More than 90 percent of families with positive predictive genetic testing results had healthy family functionality while 57 percent of those with negative predictive results did.

The researchers also surveyed 48 adolescents, with an average age of 16.7 years, who underwent cardiomyopathy genetic testing. Nearly all — 91 percent — said they were glad to know their genetic testing result, even though some reported negative emotions after testing.

Half the parents said that they should receive genetic testing results before their child, while 40.7 percent said parents and child should receive results at the same time. By contrast, 70.8 percent of the adolescents surveyed said they should receive their results at the same time as their parents.

Both parents and adolescents noted that maturity level and not just age should guide whether a child should be able to decide to undergo cardiomyopathy genetic testing.

These findings, the researchers said, suggest that genetic counselors and other healthcare providers should take a family-centered approach to counseling and should, when possible, include adolescents in results disclosures.

"With greater use of genetic information in medical care, it is important for clinicians to find ways to engage young people in this process so that they understand their test results and they can make positive changes that can improve their health," Chung added. "Understandably, some individuals experience negative emotions when they find out they have a genetic risk for a serious heart condition; however, their families appear to function better than those whose test results were negative."

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