Genes Archive

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.

Some doctors feel it's unlikely that editing people's genes will help prevent them from getting Alzheimer's disease. It's not just because attempts to edit genes inside the cells of living animals are in their infancy. It's also because most cases of Alzheimer's disease occur in older adults, and those cases do not appear to be caused just by a few defective genes. Lifestyle—particularly exercise, diet, and the amount of high-quality sleep—affects the risk of developing Alzheimer's at least as much as genes.

A polygenic risk score for heart disease is based on an analysis of more than three million common DNA variants and is expressed as a percentile. People can have zero, one, or two copies of any variant, each of which may either raise or lower the risk of coronary artery disease. Many of these variants occur in genes known to affect heart disease, such as those related to cholesterol, blood pressure, and blood clotting. Others aren't well understood and may provide targets for future research, potentially fueling new drug discovery efforts. For now, the potential benefits of this test are greatest for people under 50.

Getting regular exercise can help fend off diabetes, even in people with a genetic propensity for the disease, according to a 2023 study.

A gene editing technique that permanently shuts down a cholesterol-raising protein called PCSK9 is being tested in heart attack survivors with an inherited form of high cholesterol. The one-time infusion contains tiny particles that contain the editing tools, which travel through the blood to the liver and changes the cells that produce the protein. If early data show the treatment to be safe and effective, the therapy potentially could be used in people who have "garden variety" high cholesterol.

A new calculation tool that focuses on family history and specific genetic variants may help identify men at high risk for prostate cancer and help determine who would benefit most from routine screening.

Women should consider genetic testing for breast cancer if they have a personal or family history of breast or ovarian cancer, especially diagnosed at age 50 or younger; family history of BRCA1 or BRCA2 gene mutations; or Ashkenazi Jewish heritage.

About 20% of people have high blood levels of lipoprotein(a)—Lp(a) for short—a fatty particle that's like the evil twin of the more familiar LDL ("bad") cholesterol. Elevated Lp(a) which can double or triple risk of a heart attack and raise stroke risk, and is linked to problems with the heart's aortic valve. With new treatments that can lower Lp(a) on the horizon, cardiologists are now testing more people for this biomarker, which is not included in standard cholesterol tests.

While ovarian cancer is not always inherited, family history is the top risk factor for the disease, which is diagnosed in 20,000 American women and kills 13,000 annually. Symptoms, such as bloating, pelvic pain, bowel or bladder habit changes, and unusual vaginal discharge or bleeding, are often vague and subtle until the disease is advanced, making it hard to detect and cure. No standard screening test is available for ovarian cancer. Women with symptoms can ask for a pelvic ultrasound. Women with a family history should seek genetic counseling and testing.