With last month's decision by the US Supreme Court to ban patents on human genes that restrict testing options, the genetic-testing industry is growing rapidly and the Internet is filled with advertisements urging people to learn about their genetic makeup.
But for that very reason, experts say proceed with caution if considering at-home tests or unregulated testing providers and laboratories. While the industry is expanding exponentially, the tests remain poorly standardized and largely unregulated (none are FDA-approved), said James Fiorica, MD, medical director of Sarasota Memorial's Women's Cancer Services and Genetic Education Program.
“My biggest concern is that people will make important life decisions based on simplified kits or tests that provide bare snippets of information,” he said. “Many of the direct-to-consumer tests today look only at common markers – just bits and pieces – rather than all of the variations in a gene.
“At best, they leave people with a confusing array of results that can be challenging to interpret without additional input from a doctor or trained genetic counselor," he added. At worst, he said, they may report a negative result that gives people a false sense of security. "None provide the comprehensive testing or education needed to properly manage an individual or family health concern.”
For those truly concerned about a hereditary cancer or future disease, Dr. Fiorica recommends meeting with a board certified genetic counselor to fully understand the scientific, emotional and ethical factors surrounding genetic testing.
The Commission on Cancer recommends genetic testing be performed only by board certified genetic counselors – professionals with graduate education, specialized training and board certification in genetics. Providers trained by labs marketing specific tests may not be fully informed and order the wrong test or misinterpret results. Individuals may also experience an invasion of genetic privacy if testing companies use their genetic information in an unauthorized way, said Board Certified Genetic Counselor Cathy McCann, MS, CGC, coordinator of Sarasota Memorial’s Genetic Education Program.
"Genetic testing is not right for everyone - often there are good reasons to not have genetic testing, or to have some genetic tests but not others,” McCann said. “Communication is a big part of guiding a patient with an elevated risk of developing a genetic disease. As genetic counselors, we are trained to track the latest discoveries and explain both the benefits and risks so individuals have the information they need to make the wisest decisions for themselves and their families.”
Reasons to seek evaluation include:
• Early-age breast cancer
• Two or more breast primaries or bilateralcancer
• Ovarian cancer
• Two or more cancers in an individual
• Male breast cancer
• Colorectal cancer under age 50
• HNPCC-related cancers (colorectal, endometrial, ovarian, duodena/small bowel, stomach, uretera/renal pelvis, pancreas, bladder, thyroid, and sebaceous gland adenomas)
• Multiple affected generations or 1st degree relatives
• Populations at risk: Ashkenazi, Eastern Europe, Icelandic, Swedish, Dutch
This is what to expect when you meet with a Board Certified Genetic Counselor trained in cancer assessment.
• Collect detailed family history for both maternal and paternal sides of your family.
• Review medical records for personal and/or family cancers.
• Discuss your options for surveillance, lifestyle changes, risk reduction and genetic testing.
• Explain insurance and employment issues.
• Arrange testing if desired and indicated.
• Help you understand the meaning of test results for you and other family members.
• Maintain confidentiality as required by the federal Health Insurance Portability and Accountability Act (HIPAA).