Tests as Preventative Measures?

As the medical field advances, so do our opportunities to screen, detect & prevent disease.

By Angela E. Thomas 

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Genetic testing has become hugely popular. You can now easily find out about your ancestors, determine if your unborn child has any abnormalities, and undergo testing to find out if you’re at risk for some diseases. 

Take, for instance, genetic testing as a preventative measure, such as testing for the BRAC gene. 

As you read this, you most likely think of actor Angelina Jolie, who famously underwent a mastectomy as a preventative measure against breast cancer. So, is genetic testing for everyone?

Generally speaking, genetic testing is used to: diagnose a disease; to determine the cause and treatment options for a disease; to determine the risk of getting a disease and the risk of passing a disease on to your children; and to screen an unborn child or baby.

Jill Kelsey is a degreed medical geneticist and a certified genetic counselor at the University of Arkansas for Medical Sciences. Kelsey works with individuals and families looking for explanations for instances of cancer. 

“Genetic testing plays a role in looking at rare cancers, cancers that occur at an uncommon age and cancers that occur in a way that you’d not expect them to. We can test for a hereditary predisposition for a disease, especially if there’s a family history of instances occurring in younger women,” she said. “Some individuals come in because their families know that there’s ‘something’ going on in their family history. Others hear about our facility via word of mouth or contact us because of a news story or because a doctor has referred them to us based on a family history.

“For instance, ovarian cancer is more likely to be hereditary, so we may test a woman whose family has a history of ovarian cancer.” 

They have also performed genetic testing for pancreatic cancer and other rare cancers. 

As you may expect, many women have become interested in being tested for the BRAC1 and BRAC2 gene, which is the testing Jolie underwent. However, Kelsey noted that their center does not, generally speaking, test for this as breast cancer is fairly common: 1 in 8 women develop breast cancer in their lifetimes. 

 “Her diagnosis and the act of sharing her story were certainly important in the effort to raise awareness of the disease,” she added of Jolie. 

It’s important to note that genetic testing isn’t available for every disease, though the tests are improving with time and research. There are still a many unknowns when it comes to genes, Kelsey said. 

When should a person consider genetic testing? “When the tests can make a difference. For instance, testing children for the BRAC gene is not beneficial. They’re too young. On the other hand, if a person knows a disease is prevalent in his family history, screening could help. An example of this would be testing for the BRAC gene, which we most often associate with breast cancer; however, it’s also associated with an increased risk of ovarian cancer,” Kelsey said. “So, if a family has many instances of breast cancer, determining if the BRAC gene is prevalent may help determine if there’s an increased risk for ovarian cancer and could help the women become more diligent with their reproductive health.” 

So, we wondered, are there any other tests we should have done for preventative measures, such as testing for vitamin deficiencies? 

Not really, according to Dr. Lauren Gibson, who practices family medicine at UAMS. “Most healthy adults can get all the vitamins need from consuming a well-balanced diet.”

However, there are a few populations in which the medical community recommends vitamin supplements: women of child-bearing age and older, independent-living adults. 

“We recommend any woman of child-bearing age take 400 to 800 micrograms of folic acid or folate daily. We know that a lack of folic acid during pregnancy can contribute to birth defects such as spina bifida and more. We also know that adults 65 and older have an increased risk of falls, so we recommend they take 400 to 1,000 international units of vitamin D daily; this varies based on their dietary intake of vitamin D and their exposure to the sun,” Gibson said. 

Is there a recommendation for hormone testing? Not unless a patient is experiencing symptoms. This does not include testing hormone levels for menopause. 

“Every woman will go through menopause at some point, however, it’s usually determined through a clinical diagnosis [versus testing],” Gibson said. 

“We, as a medical community, do have a set of recommendations for testing. It’s based on those from the U.S. Preventive Service Task Force and they are specific and based on age and gender. It includes things like mammograms for women, ages 40 and older; colonoscopies or colon cancer screening for adults 50 and older … these are blanket recommendations that your primary care physician will usually make.”

She added that if you are experiencing illness or symptoms, you should, of course, speak with your primary care physician. 

So, the adage about an ounce of prevention bears out. Eat a well-balanced diet; get 75 minutes of rigorous exercise or 150 minutes of moderate exercise weekly; don’t smoke; don’t use illicit drugs; and limit your alcohol intake. 

“It would be great if there were some magic pill we could take to prevent disease, but prevention really boils down to diet, exercise and making good choices,” Gibson said.