Genes Archive

An inexpensive blood test that checks for a genetic variant of Lp(a)—a fatty particle similar to LDL cholesterol—may help clarify who might benefit from a daily low-dose aspirin, according to a 2025 review of study findings.

Direct-to-consumer genetic tests can screen for rare heart conditions that arise from variants in a single gene (such as cardiomyopathies) as well as common conditions influenced by many thousands of gene variants (such as coronary artery disease). But because the results are not definitive, they can be challenging to interpret.

People with a family history of heart disease and high LDL cholesterol should consult their doctor about lowering their LDL levels to less than 70 milligrams per deciliter, which often means taking a statin, eating a healthier diet and exercising regularly.

A 2025 study addressed the role of genes versus lifestyle habits and life circumstances in influencing a person's health. Researchers found that genes seemed to have a stronger influence than lifestyle and life circumstances for some diseases, including dementia, macular degeneration, and certain cancers. For other diseases, such as atherosclerosis involving arteries of the heart and brain, rheumatoid arthritis, and diseases of the lung, heart, and liver, lifestyle and life circumstances had a stronger influence than genes.

About 5% of Americans have low-density lipoprotein (LDL) values of 190 mg/dL or higher. Their risk of heart disease is five times higher than people with near-optimal values (less than 130 mg/dL). Some have familial hypercholesterolemia, a genetic condition that can lead to LDL values up to 350 mg/dL (or even higher in some cases). Known as FH, it's a common cause of early heart attacks.

Clinical trials are under way using gene therapy to treat inherited cardiovascular conditions, including familial hypercholesterolemia (one form of abnormally high cholesterol), hypertrophic cardiomyopathy (a type of heart muscle disease), and transthyretin amyloid cardiomyopathy (a form of heart failure resulting from amyloid deposits). But challenges remain in developing and delivering these therapies.

Lynch syndrome is an inherited condition that predisposes people to colorectal, uterine, ovarian, and other forms of cancer. Genetic testing can pinpoint Lynch syndrome, and genetic counseling is also recommended. People with Lynch syndrome need frequent cancer screenings and should watch for symptoms. Women with Lynch syndrome are also advised to undergo risk-reducing surgery that removes the ovaries, fallopian tubes, and uterus between ages 35 and 40, unless a woman is planning another pregnancy.