AHA Issues Advice on Incidentally Identified CVD Gene Variants

The American Heart Association (AHA) has issued guidance on how to handle genetic tests that unexpectedly find gene variants associated with inherited cardiovascular disease (CVD).

The scientific statement suggests next steps to determine whether a variant truly carries a risk, provides advice on how to communicate with patients and their families, and suggests appropriate follow-up for those with variants deemed higher risk for CVD.

The statement was published online March 27 in Circulation: Genomic and Precision Medicine.

“The scope and use of genetic testing have expanded greatly in the past decade with the increasing ease and reduced cost of DNA sequencing,” Andrew P. Landstrom, MD, PhD, chair of the scientific statement writing committee, says in a news release.

“However, with increased genetic testing comes more surprises, including finding unexpected variants in genes that might be associated with cardiovascular disease,” adds Landstrom, with Duke University School of Medicine, Durham, North Carolina.

Genetic variants incidentally identified through these tests represent a “significant and growing challenge” to interpret and translate into clinical care, the writing group says.

The new AHA statement is the first to focus on monogenic CVD genes which can be passed on within families, such a hypertrophic cardiomyopathy and long QT syndrome.

According to the American College of Medical Genetics and Genomics, there are currently 42 clinically treatable, secondary variant genes that increase the risk of illness or death from sudden cardiac death, heart failure, and other types of CVD.

Framework for Care

Once an incidental CVD-related genetic variant is identified, the statement offers the following framework for interpreting the variant and determining whether it is classified as benign, uncertain, or pathogenic:

  • Relay information to patients about incidentally identified variants if the variants are among the CVD genes already known to be associated with CVD and if patients agreed during pretest genetic counseling to be informed about incidental findings.

  • Do not report incidentally identified variants in genes with an uncertain association with CVD.

  • If the variant may increase CVD risk, suggest obtaining a family history and medical evaluation, preferably by a specialist working with or within a multidisciplinary team to address the disease in question. The goal of this evaluation is to determine whether there is evidence of the disease, such as symptoms or relevant test results, or whether there are any warning signs in the family history.

  • Reevaluate the specific genetic variant periodically to ensure that the CVD link remains accurate. As knowledge about a variant evolves over time, its link to disease may be reclassified.

  • The medical evaluation and genetic reevaluation should guide next steps, which may vary from dismissing the incidental variant as not likely to cause CVD to starting medical interventions. This may also involve periodic reevaluation with appropriate tests (echocardiogram, blood tests, etc) and possibly screening other family members for the variant.

“This statement provides a foundation of care that may help people with a CVD-related genetic variant and their health care professionals take the next step in determining the individual and familial risk that a variant may or may not carry,” Landstrom says in the news release.

“It’s also important to consult with genetics specialists to custom-tailor an evaluation and treatment plan to both the individual and the genetic variant in order to ensure the highest level of care possible,” Landstrom adds.

The scientific statement was prepared by the volunteer writing group on behalf of the AHA Data Science and Precision Medicine Committee of the Council on Genomic and Precision Medicine and the Council on Clinical Cardiology; the Council on Cardiovascular and Stroke Nursing; the Council on Hypertension; the Council on Lifelong Congenital Heart Disease and Heart Health in the Young: Council on Peripheral Vascular Disease; and the Stroke Council.

Circ Genom Precis Med. Published online March 27, 2023. Abstract

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