What should you do when a genetic test shows possible heart disease risk

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Advancements in genetic testing have made it easier to identify single genes associated with potential heart risks.

However, a new report from the American Heart Association cautions that healthcare professionals and their patients must approach such findings with care.

The report addresses what to do when genetic testing uncovers abnormalities or variants associated with cardiovascular disease.

Such variants are often discovered during non-cardiac disease screenings or home DNA testing kits, but the report emphasizes that these incidental findings may or may not be risk factors for disease and should be interpreted carefully.

Researchers in Duke University warn that misinterpreting these variants could lead to inappropriate care.

For instance, patients may be led to believe they have a risk of cardiac disease when they do not or may not receive proper care for an increased risk of a serious condition.

To examine these complexities, the report provides a framework for healthcare professionals to assess individual variants, communicate findings with patients and their families, and create multidisciplinary care teams as needed.

The researchers strongly encourage pre-test genetic counseling for patients to discuss the possibility of unexpected findings.

The report suggests classifying any incidental variant for heart disease as benign, uncertain, or disease-causing, and only relaying information to patients about variants that are known to be associated with heart disease and only if patients agreed to be informed.

For variants that may increase the risk of cardiovascular disease, a healthcare expert should conduct a family history and medical evaluation to look for symptoms.

The team emphasizes the importance of consulting genetics specialists to custom tailor an evaluation and treatment plan to the individual and variant.

The report also notes that the variant itself needs to be periodically re-evaluated since its link to disease may be reclassified.

Depending on the variant, a full evaluation could lead to medical intervention, regular heart-specific tests, or genetic screening for relatives.

The report is the first to focus on inherited single-gene conditions that can be passed on within families, such as hypertrophic cardiomyopathy and long QT syndrome.

The American College of Medical Genetics and Genomics recognizes 42 clinically treatable, secondary variant genes that increase the risk of sudden cardiac death, heart failure, and other types of cardiovascular disease.

Overall, the report provides a foundation of care to help patients with a cardiovascular disease-related genetic variant and their healthcare professionals determine the individual and familial risk that a variant may or may not carry.

What is a genetic test?

A genetic test is a type of medical test that analyzes a person’s DNA, or genetic material, to provide information about their inherited traits, predisposition to certain diseases, and potential risks of developing certain conditions.

Genetic tests can be used to confirm a diagnosis of a genetic disorder, to determine an individual’s risk of developing a disease in the future, and to help guide treatment decisions.

There are many different types of genetic tests, including prenatal testing to screen for genetic abnormalities in a developing fetus, carrier testing to determine if an individual carries a gene for a specific disorder, and predictive testing to assess an individual’s risk of developing a particular condition later in life.

Genetic testing can be performed using a variety of methods, including blood tests, saliva samples, and tissue biopsies.

The results of genetic tests can provide valuable information for both individuals and their healthcare providers and can help inform decisions about medical care, lifestyle choices, and family planning.

However, it is important to note that genetic testing is not always necessary or appropriate, and should be performed under the guidance of a qualified healthcare provider.

If you care about heart disease, please read studies that mild thyroid diseases can cause severe heart problems, and one cup of nitrate-rich vegetables a day keep heart disease at bay.

For more information about heart health, please see recent studies about snack that may lead to high blood pressure and heart rhythm disorder, and results showing how to reduce blood pressure to prevent heart disease.

The study was conducted by Dr. Andrew P. Landstrom et al and published in the journal Circulation: Genomic and Precision Medicine.

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