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Genetic Tests You Can Purchase on Your Own

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Over the past decade or so, in-home genetic testing or “DNA testing” has become available, including companies that offer kits for at-home testing of BRCA1, BRCA2, and other genes that can have inherited mutations that increase lifetime risk of breast cancer (and possibly other cancers). Veritas Genetics and Color Genomics are two examples. Both companies require you to provide the name and contact information of your physician, who must approve your eligibility for the test. If you don’t have a physician, they can provide one who will review your case and order the test. (The company may contact you for further information.) Both companies can connect you with a genetic counselor if you don’t have one.

The company 23andMe offers the Personal Genome Service Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants). This test does not require a doctor to order it -- you can purchase it directly from the company. The test only detects three out of more than 1,000 known BRCA mutations and genetic counseling is not offered with the test.

More at-home DNA testing companies are likely to emerge in the future. The main advantages are convenience and cost, as these tests tend to be less expensive than hospital-ordered tests, costing about $200-300. Still, there can be some major disadvantages to these at-home tests:

  • Some of these tests may only look for mutations in the BRCA1 and BRCA2 genes. We know there are many more genetic mutations linked to breast and ovarian cancer, including PALB2, CHEK2, and PTEN.
  • Some insurance plans may only cover genetic testing once in your lifetime. So if you use insurance coverage for a test that only looks for BRCA1 and BRCA2 mutations, your insurance may not cover additional tests to look at a broader range of genes in the future.
  • There usually is no genetic counseling up front. A genetic counselor or your doctor can help you decide which genetic test is right for you and offer on-going, in-depth information.

Whatever option you choose, it’s important to understand what mutations are included in the test and what the results might mean, says genetic counselor Cristina Nixon.

“The main caution is to be aware of what you’re being tested for ahead of time. Don’t just do the test, but actually talk to somebody about what this test has included and what the results might mean. You need to be aware of what the implications are should one of the genes come back positive [for a mutation].”

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