American Heart Association sets guidelines for genetic testing for cardiovascular disease

The American Heart Association has developed guidelines for cardiovascular specialists who may be considering incorporating genetic testing into the treatment of patients with hereditary cardiovascular disease.

In a scientific statement published in Circulation: Genomic and Precision Medicine on Thursday, researchers and clinicians representing the American Heart Association Council on Genome and Precision Medicine. Council on Atherosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular and Stroke Nursing; Clinical Cardiology Council, Genetic Testing, Cardiomyopathy, Arrhythmia Disorder, Thoracic Aortic Aneurysm and Dissection, Familial High Cholesterol He said it could help manage a variety of cardiovascular diseases such as blood pressure (FH).

However, not all cardiovascular practitioners are fully aware of the usefulness and challenges of incorporating genetic test results into the care of patients and their families, the authors said. The statement they published summarizes these current best practices for genetic testing and their impact on the management of these diseases.

For example, the authors say, “genetic testing is usually for patients with a confirmed or suspected diagnosis of hereditary cardiovascular disease, or for individuals at high a priori risk due to previously identified pathogenic variants in a family You need to make a reservation at.” This includes a rigorous, disease-appropriate phenotype, and a comprehensive family history for at least three generations. If these two factors work together to establish or strongly suggest an inherited cardiovascular disease, the next step is to identify the person who is best suited for genetic testing.

Next, the authors said that if a decision was made to proceed with a genetic test, the clinician should decide which range of genetic tests should be performed. Test options range from targeted sequencing of single or few genes most likely to be involved in the disease to large gene panels with genes with limited evidence, biased to query all genes. It varies from no exome or genome sequencing. The clinician’s trend may be to test all genes as much as possible, but this may not increase the likelihood of clinically viable results in adult patients, the authors said.

In addition, the expanded test panel may increase the number of unknown significance (VUS) variants identified. Also, in the case of exome or genome sequencing, extended testing can lead to confusion, increasing the likelihood of picking up secondary or incidental findings not related to the disease in question.

“The yield of genetic tests for hereditary cardiovascular disease is less than 100%, usually less than 100%, so genetic tests may not reveal the cause of the patient’s disease or may not confirm the diagnosis That also needs to be known to the provider,” the authors write. ..

According to experts, clinicians should also be aware of plans to return results to patients when performing tests. This should be done in the presence of a genetic counselor, so that the patient has a complete understanding of the consequences for their health.

The authors also noted the possibility of secondary or accidental findings from genetic testing. Increasing genetic testing by exome or genomic sequencing to maximize the opportunity for patients to identify causative pathogenic variants, narrowing the cost between gene panels and exomes or genomes Secondary or incidental findings are particularly relevant.

According to AHA experts, the current recommendation is to inform patients about pathogenic or possible mutations in 59 genes that ACMG has determined to be medically feasible. However, VUS is not normally returned when discovered as an accidental discovery. Importantly, 30 of the ACMG 59 genes are associated with cardiovascular disease.

“The field of clinical genetics is changing rapidly. This scientific statement is expected to reflect new advances in this field, new disease-specific guidelines, expert agreements, and other publicly available statements. I expect it will need to be updated.” “Reliable classification of variants identified by genetic testing remains a major challenge to clinical genetics practice. ClinGen’s continued efforts to improve gene-specific variant classification criteria are associated with medium or high throughput. Throughput fashion.”

This story first appeared in sister publications, Genomeweb..