What’s In Your DNA?

At-home DNA testing kits are surging in popularity. Should you be using them to peek at your genome? –by Virginia Beard

In the wake of the holidays, you or someone you know may be the proud new owner of an at-home DNA testing kit from popular brands like 23andMe. And while some kits promise to reveal living and long-lost family members (along with other genealogical factoids), others boast the ability to pinpoint genetic risk factors for conditions like breast cancer and Alzheimer’s disease. As the latter can have serious implications on your health, we sat down with Roper St. Francis Healthcare affiliated geneticist Dr. Steven Shapiro to discuss the usefulness and reliability of such tests.

“I have no problem with people finding out ancestry,” he says, “but as a geneticist, I have a real concern about consumer-driven medical genetics testing. In some respects, it’s a gimmick.” The biggest problem with these at-home tests, he explains, is that they don’t tell the whole story.

Take, for example, genetic testing for breast cancer using BRCA genes. The BRCA genes help repair breaks in DNA that can lead to the formation of breast cancer. A mutation of either of these genes (which, according to the National Breast Cancer Foundation, affects roughly one in 400 people) can increase a person’s chance of developing the disease. “What people may or may not know is that at-home tests look for only three mutations of the BRCA gene. There are many possible mutations in the BRCA genes and there are a number of other genes besides BRCA involved with inherited breast cancer,” explains Dr. Shapiro. “So the test is not providing a full picture of your risk.” To compound that, these tests don’t take into account lifestyle factors, which have a huge effect on a person’s risk for disease.

If you’re thinking about using that DNA kit to learn what country your family originated from, it’s a fun option. But to find out your genetic risk for serious conditions, you’re better off enlisting a genetic counselor, who, in addition to genetic testing, can confirm a diagnosis and advise on next-step treatment options or education. “These are complex issues that deserve individualized analysis and in-depth explanations,” says Dr. Shapiro.

When to Seek Genetic Counseling

An across-the-board look at your genes via an at-home test kit can raise more questions or concerns than it can help resolve. Certain scenarios, however, can indeed warrant genetic testing. Dr. Shapiro shares a few of these situations:

Family planning. If you or your spouse is a known carrier of a certain disease and you’re thinking about starting a family, you may want to enlist a genetic counselor for carrier screening—a genetics test to see if the other spouse is a carrier of that gene or mutation, as well, thus increasing future children’s risk for the condition.

Pregnancy. In South Carolina, newborn screening is always done to check for the highest risk and most common genetic disorders like sickle cell anemia and cystic fibrosis. Additional prenatal genetic screening is also available for down syndrome, spina bifida and more.

Family history of a disease. If a first-degree relative has or had a disease like breast cancer or Alzheimer’s, you may want to work with a genetic counselor to test and analyze your potential inherited risk for the disease.

An At-Home Screening that Is Recommended

While Dr. Shapiro doesn’t endorse at-home genetics testing, there is one at-home health test on the market that doctors say can be a smart tool in detecting colorectal cancer. Cologuard is an at-home noninvasive test that checks for altered DNA or blood in stool. Though it shouldn’t take the place of a colonoscopy—which is recommended every decade starting by age 45—it can be a complementary tool in evaluating red flags for colorectal cancer, the rates of which continue to rise.

NEW RESEARCH: Spotlight On Sleep Deprivation

Are your children getting enough?

Pop quiz time: How many hours of sleep does the American Academy of Pediatrics (AAP) recommend for children age 6 to 12? Answer: between nine and 12 hours. And the AAP says kids age 13 to 18 should be sleeping eight to 10 hours each night. Yet according to new research presented at the AAP 2019 National Conference & Exhibition, only 48 percent of school-age children in the nation meet these recommendations during the school week. It’s a troubling statistic as researchers also found inadequate sleep among this age group to be linked with an increased risk for depression and obesity and negative effects on mood, academic performance and attention span. Researchers studied responses from parents and caregivers of more than 49,000 American children between the ages of 6 and 17, gathered from the 2016-2017 National Survey of Children’s Health. Compared with peers who got inadequate sleep, researchers gathered that well-rested children were 44 percent more likely to show interest in lessons, 33 percent more likely to complete their homework, and 28 percent more likely to care about their academic performance— underscoring the impact that sleep has on a child’s ability to thrive in school. To help offset factors you can’t control (like an early school start time), researchers encourage parents to enforce screen-time rules and limit extracurricular activities that interfere with bedtime.