Genetic testing can play a role in predicting your health risks

A clean life isn’t all it’s made out to be. Not drinking, not smoking, exercising regularly, and cutting out late-night snacking are a bit overrated. Good habits can help achieve good health, of course, but it’s not that simple.

Genetics can play an even bigger role in a person’s well-being – and the science is growing in popularity.

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Genetic testing is expected to reach $2.5 billion in spending over the next few years. Health insurance plans usually cover the costs when recommended by the doctor. But testing can also be done without an order through direct-to-consumer companies such as and 23andme.

Pregnant women and children in particular benefit greatly from tests that can reveal changes or mutations in genes that cause illness or disease. Prenatal genetic testing, for example, is used to identify Down syndrome (the baby has an extra copy of chromosome 21) and cystic fibrosis (the baby inherits one “CF” gene from each parent), while the Sickle cell anemia (a defective form of hemoglobin is identified) can be diagnosed at birth.

Children born to a parent carrying the abnormal genetic variant linked to familial hypercholesterolemia (FH) have a 50% chance of inheriting the same disease. Without early treatment with cholesterol-lowering drugs, the life expectancy of a child with the variant can be reduced by 15 to 30 years, with some children with HF dying of cardiovascular disease before age 20.

Breast cancer strikes women far more often than men – and cases usually occur in people with no immediate family history. However, people with mutations in their “BRCA” genes are at an increased risk of developing breast cancer compared to the general population. The BRCA gene test, which is not systematically requested for people at average risk, is also correlated with the incidence of ovarian and pancreatic cancers.

Children of people with the BRCA1 or BRCA2 mutation have an increased risk of developing breast, ovarian and pancreatic cancers.

While colon cancer, the second leading cause of death in the United States (according to the American Cancer Society), can develop through a variety of different genetic pathways, there are a few specific mutated genes (abbreviated as MSH2, MSH6, MLH1 ) which, when identified, allow a person with a family history of the disease to know if they are at higher risk.

Hemophilia, more common in men than in women, causes incessant or abnormal bleeding after an injury or surgery. The condition can be predicted by genetic variants in the “F8” and “F9” genes.

Genetic testing can predict a person’s predisposition to Parkinson’s disease, age-related macular degeneration, celiac disease, obesity, bipolar disorder, hemochromatosis, and psoriasis. A gene called “Vascular Endothelial Growth Factor (VEGF)” is found in excessive amounts in the skin lesions of psoriasis. Treatment may optionally focus on blocking or reducing VEGF activity.

We can’t all be as genetically lucky as Winston Churchill, who lived to be 90 despite his legendary bad habits (and sense of humor). Churchill was known to start his morning with a whiskey or brandy and then smoke up to 10 cigars during the day. He once said the following: “The water was not drinkable. To make it more palatable, we had to add whiskey. Through diligent effort, I learned to love him.”

The decision to undergo a genetic test should not be taken lightly. It can be a powerful tool for gaining knowledge about disease risk, but there are downsides. The tests can be expensive, stressful and give inconclusive results. The tests are targeted rather than being a full body examination – and not everyone is eligible.

The best approach to staying healthy is to follow doctor visits and exercise programs, abstain from smoking, eat well, drink in moderation – and maybe, when appropriate and recommended , consider supplementing the clean lifestyle with some of the latest medical care. science.

Mark Ryan

Mark Ryan, RN, lives in Tallahassee.

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