Breast Cancer Awareness Month will cause many women to worry about their hereditary risk for developing the disease, especially if it runs in their family.
Genetic testing can answer that piece of the puzzle for breast and many other types of cancer, as well as a variety of diseases. It used to be costly, and require doctor’s orders and appointments. But anyone can now buy a fairly inexpensive DNA testing kit online and receive some answers without leaving home as part of a growing industry known as direct-to-consumer genetic testing.
How it works:
It usually means providing a saliva sample and sending it back to the company for lab analysis, with the results accessible via a secure online portal or sent in a letter. Depending on the company, a physician doesn’t necessarily have to be involved to order the kit or get the findings.
Proponents say it democratizes the process, giving people more access to their genetic information and allowing them to take action to protect their health. But experts also worry about the tests’ validity and false reassurance, and a general lack of understanding about how much they can reveal.
“Whenever a person is interested in their genetic background as it relates to health risk, it's a good thing. And if they pursue these direct-to-consumer tests, it's fine,” Leigha Senter, associate professor of human genetics at The Ohio State University College of Medicine and a licensed genetic counselor, told TODAY.
“People should take the extra steps, though, to make sure that their health care providers are aware of their results and that they understand the limitations that come along with doing a direct-to-consumer test because they're often not as comprehensive as the kind of cancer risk-related test that we might do in clinic.”
Testing options:
The market keeps growing. Here’s a brief sample of companies offering at-home genetic health testing:
23andMe: The company’s home DNA tests look at genetic risks for Parkinson's disease, late-onset Alzheimer’s disease, celiac disease and some rare blood diseases. There’s also a test to check three variants of the BRCA1/BRCA2 genes most common in people of Ashkenazi Jewish descent, which indicate an increased risk of developing breast and ovarian cancer. However, these are not the most common BRCA1/BRCA2 mutations in the general population. 23andMe is the only company on the list of direct-to-consumer tests to have received marketing authorization by the U.S. Food and Drug Administration. A Health Service kit costs $99 and can be bought directly from the company’s website or on Amazon.com.
The company recommends talking with a genetic counselor before and after testing.
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Invitae: This San Francisco-based company offers a test that looks at 61 genes associated with common cancers, including breast, ovarian and prostate; a screen that tests 77 genes related to inherited heart disease; plus a combination of the two. The tests are medical-grade, the company says. After a person requests a test online, the company says an independent clinician will review and approve the order. Tests begin at $250. Customers talk to a genetic counselor at no extra cost if they’d like.
Color: All tests are ordered by a doctor, either the customer’s own physician or an independent doctor who will review the information. The company says it focuses on “thorough sequencing of genes” with clinical-grade tests. Customers receive an analysis of genes associated with hereditary forms of heart disease; hereditary cancer risk for breast, ovarian, uterine, colon, melanoma, pancreatic, stomach and prostate cancers; and genes associated that impact how the body processes certain medications. The test costs $249. The cost includes phone calls with Color’s in-house genetic counselors.
Who might benefit from a test?
If your ancestry is 100% Ashkenazi Jewish, having a negative test result for the most common breast cancer-related mutations from a test like 23andMe will significantly reduce the likelihood that you have a hereditary predisposition, Senter said. But it still doesn't rule it out.
There are a lot of factors that contribute to a person's risk for cancer: Age, gender, hormonal and reproductive factors, diet and exercise, said Tanya Eble, manager of the adult genetics service at Baylor College of Medicine in Houston, Texas, and a certified genetic counselor.
“So someone’s risk to develop cancer isn't as black and white as just a genetic test result in itself,” she noted.
When it comes to breast cancer, only about 5% to 10% of cases are thought to be hereditary, according to the American Cancer Society.
If you're truly concerned about your risk and have a family history, a clinically validated test would be the best option, Senter advised. Having a conversation with your doctor before proceeding can be helpful to find out what testing is most appropriate.
The risk of ‘false reassurance’
The FDA urges consumers to consider discussing their at-home test results with a genetic counselor or a doctor to better understand what they mean to their health.
For example, a woman with a family history of breast cancer might take the DTC test looking at three specific variants of the BRCA1/BRCA2 genes most common in people of Ashkenazi Jewish descent and feel reassured by a negative result.
“But there are more than 1,000 BRCA variants with some clinical significance, so that's a very small part of what that test is looking at,” Eble said.
“Likewise, there are other genes that can be associated with a predisposition to breast or other cancers. And if you're only looking at those three mutations in BRCA 1 and BRCA 2, you're obviously not even considering those other genes that might be playing a role in an individual cancer risk.”
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Without explanation from a doctor or genetic counselor, people with a negative result may think they’ll never get cancer, or be convinced they can now skip mammograms and other routine screening, said Karen Grinzaid, assistant professor of human genetics at Emory University School of Medicine in Atlanta. She’s the executive director for JScreen, a non-profit based out of the school's department of human genetics. It specializes in screening for more than 200 genetic diseases that are commonly found in both the Jewish and general populations.
JScreen also involves submitting a saliva sample via an at-home kit, but it doesn’t consider itself to be a direct-to-consumer genetic option because it’s medical-grade testing ordered by a doctor, with genetic counseling follow-up, Grinzaid said.
“I think people need to be really careful. If a person’s goal is to find out about their hereditary cancer risk, they need to do testing in the right way,” she noted.
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When the test is positive for disease risk:
It’s important to remember the tests on the market are different, have different limitations and test for different things. They might not interpret the data in the same way, so it's possible to get direct-to-consumer genetic testing from two companies and receive two different results, Eble cautioned.
“There can be false positives that can lead to anxiety,” she said. “Patients need to be aware that receiving a positive result can be a good jumping off point to start the conversation with their doctor, but alone, they shouldn't be used to make medical management decisions.”
Depending on the at-home kit that you used, it may be necessary to confirm your result in a clinical lab, Senter added.
The National Society of Genetic Counselors cautions that only clinical-grade testing interpreted by health care professionals with genetics expertise should be used to make decisions about preventive care, diagnosis or treatment.
More to consider:
Before sending off your saliva for analysis, look into the company’s privacy policy and how your information will be used. You might ask: Does the company own the data? Would my information be available to be used in a criminal case? Will it be sold for research purposes?
Direct-to-consumer testing isn't covered by the Health Insurance Portability and Accountability Act (HIPAA), Eble said.
The Genetic Information Nondiscrimination Act of 2008, which prohibits genetic discrimination in health insurance and employment, doesn’t offer such protection for other types of insurance, such as life, long-term or disability insurance, she added.
“Those companies can ask if you've had any genetic testing. They can ask what your results are and they might use that information when they're determining whether they’ll cover you and what your out-of-pocket expense for insurance might be,” Eble noted.
“These are things that people might not necessarily be thinking about if they're doing a test… (but) there's a lot to think about, and that's why I urge patients to talk to their health care provider.”
