In the latest medical news in cardiology, a statement published on Thursday in the journal Circulation: Genomic and Precision Medicine outlined best practices for using genetics in medical care for heart disease patients.
Researchers and clinicians speaking on behalf of the American Heart Association said incorporating genetic testing into patient care could improve the management of several chronic heart conditions.
This report by the AHA’s Council on Genomic and Precision Medicine is supported by the Council on Arteriosclerosis, Thrombosis and Vascular Biology, the Council on Cardiovascular and Stroke Nursing, and the Council on Clinical Cardiology.
According to the researchers, genetic testing may help in the management of cardiomyopathies and arrhythmic disorders. It could also shed light during thoracic aortic aneurysms and dissections. More directly, it could help uncover the path of inheritance of a patient’s familial hypercholesterolemia or FH.
Why patients need to be qualified before testing
Not all cardiovascular practitioners are aware of how genetic test results help in forming a patient care program. Similarly, not all cases require a genetic test. According to the authors, genetic tests are advisable for patients with a confirmed or suspected inherited cardiovascular disease.
It is also for people at high risk for heart disease due to previously identified related illnesses in their families. Qualifying a patient involves rigorous phenotyping and researching the individual’s complete family history dating back at least three generations. If these two elements strongly suggest inherited cardiovascular ailments, the clinician should decide whether to proceed with genetic testing.
The next steps after patients are tested
Next, the authors said, the clinician should decide on the scope of the test. Genetic testing can range from targeted sequencing of one or a few genes to limited-evidence genes that are possibly within large gene panels to unbiased querying of the entire sequence.
A clinician would typically want to test as many genes as possible, but this is not an ideal recourse in many clinical settings. Furthermore, more comprehensive testing does not equate to uncovering more paths for treatment or health benefits.
Experts must also account for variants of uncertain significance or VUS. There is a higher risk of picking up irrelevant findings with complete genome sequencing, which would confuse decision-makers.
According to the authors, “providers should also be aware that genetic testing might not reveal a cause or confirm a diagnosis of the patient’s disease because the yield of genetic testing for any inherited cardiovascular disease remains […] usually much less than 100 [percent].”
After administering the test, a clinician must determine how much of it goes to the patient and how they can convey the results. This meeting should also be in the presence of a genetic counselor.
The AHA researchers recommend that patients be notified of pathogenic or likely pathogenic variants of the 59 genes identified by the ACMG as medically actionable. It is worth noting that 30 of these 59 genes have links to cardiovascular disease.
Conclusion
“The field of clinical genetics is in rapid flux. We anticipate that this scientific statement will need to be updated to reflect new advances in the field and new disease-specific guidelines, expert consensus documents, and other statements that are published,” the authors said. The next things clinicians need are gene-specific variant classification criteria and laboratory-based platforms for interpreting variants in various throughputs.
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