Scientists can scan your entire DNA library. That’s more than 20,000 genes. This kind of testing, called genomic testing, has transformed the diagnosis and management of cancer and rare genetic diseases.
But like other kinds of health care, racial and ethnic minorities are underserved when it comes to all kinds of genetic services and research. Medical mistrust, lack of access, and language barriers can make it harder to get these kinds of tests.
And sometimes people or families have cultural or financial reasons for not seeking genomic tests, says Yong-Hui Jiang, MD, PhD, professor and chief of medical genetics at Yale School of Medicine.
Stigma and misconceptions can also make you a little hesitant. Here are some questions and issues you may have.
Certain health conditions are more likely to show up in certain racial or ethnic minorities. “We know that for sure,” Jiang says. That may raise concerns about being tagged as someone with “bad” genes.
Carolyn Applegate, a senior genetic counselor with Johns Hopkins Medicine, tries to address these kinds of fears head on. She says it’s important to acknowledge concerns about genetic discrimination. But she tries to help people focus on the goal of genomic testing, which is to make sure that you get “the best medical care with the most information possible.”
You may also be a little scared that test results may threaten your job or health insurance. “But, by law, that shouldn’t be a problem,” Jiang says.
In 2008, the government passed the Genetic Information Nondiscrimination Act (GINA). This law makes it illegal for employers or health insurance providers to ask solely for your genomic information. Even if they do have legal access to your medical records, they can’t use your genetic info to discriminate against you.
Here are some of the genetic services protected by GINA:
- Personal genomic tests
- Genetic results of family members
- Participation in genetic research
- Genetic counseling or education
GINA doesn’t extend to long-term care, disability insurance, or life insurance. You’ll need to check the laws in your state to find out how your genetic information will affect that kind of care.
But if you’re worried about future coverage, there are steps you can take before you get genomic tests. “Get the life insurance you want now, before your testing is completed,” Applegate says.
It’s natural to wonder if your genetic information might end up in the wrong hands. But genomic tests, at least the ones you get from your doctor or a medical facility, are shielded by health privacy laws.
“Everything is protected by HIPAA,” Applegate says. HIPAA is short for Health Insurance Portability and Accountability Act. It’s a law that prevents your health information from being disclosed without your approval.
David VanderWeele, MD, PhD, assistant professor of hematology and oncology at Northwestern University Feinberg School of Medicine, says electronic medical records keep track of who looks through your health information. People can’t access your records if it’s not related to your medical care.
Though it’s a different story if you use commercial genomic tests.
“Privacy is a little bit more of an issue when you talk about direct-to-consumer testing,” Applegate says. “They’re trying to keep that data secure. But the reality is, if someone has that data, we know it’s identifiable.”
You might feel more or less comfortable with certain kinds of genomic tests. Your doctor can go over the ins and outs of the one that’s best for you. But here are some of the kinds of tests you can get:
Diagnostic or predictive. These tests look through part or all of your DNA. They may help your doctor figure out the reason behind certain symptoms. They’re also used to check for genetic variants that raise your odds of certain health problems down the road.
Keep in mind that “predictive” genomic tests aren’t black and white. “It’s not that you’re guaranteed to get a condition,” Applegate says. “It’s just that you have a higher likelihood than someone else (without the genetic variant).”
Tumor genomic profiling. This test looks at dozens to thousands of genes to see what’s mutated in your cancer cells, VanderWeele says. But it doesn’t tell you about your genetic risk for cancer or look through your DNA, he says. “It’s pretty limited to information about the tumor.”
Commercial tests. These are DNA tests you can buy online or from the drugstore without a doctor involved, Jiang says.
Another key difference, Applegate says, is that medical-grade tests are much more thorough then at-home tests.
Large-scale genomic tests often come up with “secondary findings.” These are a set of genetic traits associated with certain health conditions that may or may not have anything to do with your original symptoms.
For instance, Jiang says, you may bring your child in because they have symptoms of autism. But then you find out they also have a genetic variant that raises their chances of another condition “that may take 20 or 30 years to develop,” he says.
Among others, that includes conditions such as:
- Genetic cancers
- Heart conditions such as cardiomyopathy
- Heart rhythm problems like long QT syndrome
- Aortic aneurisms
If you don’t have symptoms, you may wonder why it matters to know about these health risks early on. But the good news is these secondary findings may refer to conditions you can do something about. That means you can “make medical changes that will impact your health and life expectancy,” Applegate says.
For example, you can make lifestyle changes, get targeted treatment, or make sure to get early screenings. And when it comes to cancer, “it really makes a difference to catch it earlier,” Applegate says. You may live longer, and “even the treatments are less intense.”
That being said, you always have the choice to decline this extra genetic info. The data will be around if you want to come back to it later. That’s true whether genomic tests are for you or your child. “Some families want to know the risk right away,” Jiang says. “But some families aren’t psychologically ready.”
