Scientists can scan entire DNA libraries. That's over 20,000 genes. This type of testing, called genomic testing, has revolutionized the diagnosis and management of cancer and rare genetic diseases.
However, as with other types of health care, racial and ethnic minorities are underserved when it comes to all types of genetic services and research. Distrust of health care, lack of access, and language barriers can make it difficult to obtain this type of testing.
There are also people and families who do not want genomic testing for cultural or economic reasons, says Yonghui En, M.D., Ph.D., professor and chief of medical genetics at Yale School of Medicine.
You may be a little hesitant due to prejudice or misunderstandings. Here are some questions and issues you may have.
Certain racial or ethnic minorities are more likely to develop certain health conditions. „We know that for sure,“ Jiang says. This may raise concerns about being tagged as having „bad“ genes.
Carolyn Applegate, a senior genetic counselor at Johns Hopkins University, is trying to tackle these fears head-on. She says it's important to recognize concerns about genetic discrimination. But she is trying to help people focus on the goal of genomic testing: ensuring they receive „the best medical care with as much information as possible.“
You may also be a little worried that your job or health insurance will be jeopardized by your test results. „But according to the law, that shouldn't be a problem,“ Jiang said.
In 2008, the government passed the Genetic Information Non-Discrimination Act (GINA). This law makes it illegal for an employer or health insurance provider to ask for only your genomic information. Even if they have legal access to your medical records, they cannot use your genetic information to discriminate against you.
Some of the genetic services protected by GINA are listed below.
- personal genome testing
- Family genetic consequences
- Participation in genetic research
- Genetic counseling or genetic education
GINA does not apply to long-term care, disability, or life insurance. You should check your state's laws to find out how your genetic information affects the care of the species.
But if you're concerned about future insurance coverage, there are steps you can take before taking a genomic test. „Get the life insurance you want now, before the test is complete,“ says Applegate.
It's natural to wonder if your genetic information could fall into the wrong hands. But genomic tests, at least those received from a doctor or medical facility, are protected by health privacy laws.
„Everything is protected by HIPAA,“ Applegate said. HIPAA stands for Health Insurance Portability and Accountability Act. This is a law that prohibits disclosure of your health information without your authorization.
Electronic health records track who is viewing your health information, says David Vanderweele, MD, assistant professor of hematology-oncology at Northwestern University Feinberg School of Medicine. No one else can access your records unless they are related to your medical care.
However, using commercially available genomic tests is a different story.
„Privacy becomes a little more of an issue when you talk about direct-to-consumer testing,“ Applegate said. „They're trying to keep that data safe. But the reality is that if someone has that data, we know it's identifiable.“
You may feel more or less familiar with certain types of genomic testing. Your doctor will take a closer look at the treatment that is best for you. However, the types of tests you can get are:
diagnosis or prediction. These tests look at part or all of your DNA. These may help your doctor figure out the reason behind certain symptoms. It is also used to check for genetic mutations that increase the likelihood of developing certain health problems in the future.
Keep in mind that “predictive” genomic tests are not black and white. „You're not guaranteed to get the terms,“ Applegate said. „It's just that you're more likely than others who don't have the genetic variation.“
Tumor genomic profiling. The test looks at dozens to thousands of genes to see what's mutated in cancer cells, VanderWeele said. But it doesn't tell you your genetic risk for cancer or look at your DNA, he says. „Information about the tumor is quite limited.“
Commercial testing. These are DNA tests that can be purchased online or at drug stores without medical intervention, Jiang said.
Another key difference is that medical-grade tests are much more thorough than at-home tests, Applegate said.
Large-scale genomic tests often yield „secondary findings.“ These are a set of genetic characteristics that are associated with a specific health condition and may not be related to the original condition.
For example, a child might be brought in because they have symptoms of autism, Jiang said. But then it turns out they also carry genetic mutations that make them more likely to develop other diseases, „which can take 20 to 30 years to develop,“ he says.
This includes, among other things, the following conditions:
- hereditary cancer
- Heart disease such as cardiomyopathy
- Heart rhythm problems such as long QT syndrome
- aortic aneurysm
If you don't have symptoms, you may wonder why it's important to know about these health risks early. But the good news is that these secondary discoveries can be something you can do something about. That means „we can make medical changes that impact health and longevity,“ Applegate said.
For example, you can make lifestyle changes, receive targeted treatment, or get tested early. And when it comes to cancer, „early detection really makes a big difference,“ Applegate said. They may live longer, and „the burden of treatment will be lighter.“
That being said, there is always the option to refuse this additional genetic information. Even if you want to go back to it later, your data is saved. That's true whether genomic testing is for you or your child. „Some families want to know the risks right away,“ Jiang said. „But some families aren't psychologically ready.“