Scientists can scan your entire DNA library. That’s more than 20,000 genes. This type of testing, called genomic testing, has transformed the diagnosis and treatment of cancer and rare genetic diseases.
But like other forms 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 more difficult to get these types of tests.
And sometimes people or families have cultural or financial reasons for not seeking genomic testing, says Yong-Hui Jiang, MD, PhD, professor and chief of medical genetics at Yale School of Medicine.
Stigmatization and misconceptions can also make you a little hesitant. Here are some questions and concerns you may have.
Certain health problems are more common among certain racial or ethnic minorities. “We know that for sure,” says Jiang. That can raise concerns about being tagged as having “bad” genes.
Carolyn Applegate, a senior genetic counselor at Johns Hopkins Medicine, tries to address these types of fears head-on. She says it’s important to acknowledge concerns about genetic discrimination. But she’s trying to help people focus on the purpose of genomic testing, which is to ensure you get “the best medical care with the most information.”
You may also be a little worried that the test results could jeopardize your job or health insurance. “But according to the 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 and health insurers to ask only for your genomic information. Even if they do have legal access to your medical records, they cannot use your genetic information to discriminate against you.
Here are some of the genetic services protected by GINA:
- Personal genomic testing
- Genetic results of relatives
- Participation in genetic research
- Genetic counseling or education
GINA does not extend to long-term care, disability insurance or life insurance. You should check the laws in your state to find out how your genetic information affects that type of care.
But if you’re concerned about future coverage, there are steps you can take before getting genomic testing. “Write the life insurance policy you want now, before your testing is complete,” says Applegate.
It’s normal to wonder if your genetic information is getting into the wrong hands. But genomic tests, at least the ones you get from your doctor or a medical facility, are protected by health care privacy laws.
“Everything is protected by HIPAA,” says Applegate. HIPAA is an abbreviation for Health Insurance Portability and Accountability Act. It is a law that prevents your health information from being disclosed without your authorization.
David VanderWeele, MD, PhD, assistant professor of hematology and oncology at Northwestern University Feinberg School of Medicine, says electronic health records track who views your health information. People cannot access your information if it is not related to your medical care.
Although it is a different story if you use commercial genomic tests.
“Privacy is a little bit more of an issue when you’re talking about direct-to-consumer testing,” Applegate says. “They’re trying to keep that data safe. But the reality is, if someone has that data, we know it’s identifiable.”
You may feel more or less comfortable with certain types of genomic testing. Your doctor can discuss the ins and outs of the one that is best for you. But here are some types of tests you can get:
Diagnostic or predictive. These tests look through some or all of your DNA. They can help your doctor figure out the reason behind certain symptoms. They are also used to check for genetic variants that increase the likelihood of certain health problems in the future.
Keep in mind that “predictive” genomic testing is not black and white. “It’s not like you’re guaranteed to develop a condition,” says Applegate. “It’s just that you have a higher chance than someone else (without the genetic variant).”
Genomic profiling of tumors. This test looks at tens to thousands of genes to see what has mutated in your cancer cells, says VanderWeele. But it doesn’t tell you about your genetic risk for cancer and doesn’t look through your DNA, he says. “It’s pretty limited to information about the tumor.”
Commercial testing. These are DNA tests that you can buy online or at the drugstore without the intervention of a doctor, Jiang says.
Another key difference, according to Applegate, is that medical-grade tests are much more thorough than at-home tests.
Large-scale genomic testing often produces ‘secondary findings’. These are a set of genetic traits associated with certain health conditions and may or may not have anything to do with your original symptoms.
For example, Jiang says you can bring in your child because he or she has symptoms of autism. But then you find out they also have a genetic variant that increases their chances of another condition “that might take 20 to 30 years to develop,” he says.
This includes conditions such as:
- Genetic cancers
- Heart conditions such as cardiomyopathy
- Heart rhythm problems such as long QT syndrome
- Aortic aneurisms
If you don’t have symptoms, you may wonder why it’s important to know about these health risks early on. But the good news is that these secondary findings can point to conditions that you can do something about. That means you can “make medical changes that will impact your health and life expectancy,” says Applegate.
For example, you can make lifestyle changes, get targeted treatment, or make sure you get checked out early. And when it comes to cancer, “catching it earlier really makes a difference,” says Applegate. You may live longer and “even the treatments are less intense.”
That said, you always have the choice to decline this extra genetic information. The data will be there if you want to come back to it later. That’s true whether genomic testing is for you or your child. “Some families want to know what the risk is right away,” Jiang says. “But some families are not psychologically ready for it.”