Genetic testing is on the rise, but consumers who order tests without genetic counseling or purchase test kits off the Internet may put themselves at risk. A panel that included the CMO of the American Cancer Society said those risks can range from having the wrong test ordered or the result misinterpreted, or even having prophylactic surgery that turns out to be unnecessary.
Published Online: October 09, 2013AJMC Panel: Genetic Testing Should Come With Counseling
American Cancer Society CMO, Supreme Court Plaintiff Warn of Consumer Risks
PLAINSBORO, N.J. – Genetic testing is on the rise, but consumers who order tests without genetic counseling or purchase test kits off the Internet may put themselves at risk. Those risks can range from having the wrong test ordered or the result misinterpreted, or even having prophylactic surgery that turns out to be unnecessary.
This was the consensus of a panel that featured some of the nation’s best-known genetic counselors, as well as Otis W. Brawley, MD, FACP
, the chief medical officer of the American Cancer Society. Also participating was David H. Finley, MD, FACS
, national medical officer, Enterprise Affordability and Policy at Cigna, which recently gained attention for requiring genetic counseling by a board certified genetic counselor before testing, a move challenged by the American Society of Clinical Oncology.
The American Journal of Managed Care
convened the panel shortly after ASCO’s statement, and Finley’s participation marked Cigna’s first known comment on the matter. “I just hope that Cigna’s program will succeed in steering people toward genetic counseling and better care,” he said. (Click here for link.)
“We have steadfastly advised people to get genetic counseling before getting genetic testing,” Brawley said, of the ACS position, noting that “95 percent of women diagnosed with breast cancer do not have these mutations.”
Cigna’s position – that counseling prevents patients from ordering the wrong test or taking improper steps afterward – had strong support among the group. Jan Berger, MD, MJ,
editor-in-chief of AJMC
’s sister publication, The American Journal of Pharmacy Benefits
, led the discussion. Other panelists were:
Ellen T. Matloff, MS, research scientist and director, Cancer Genetic Counseling, Yale Cancer Center. Ms. Matloff was the lead plaintiff in the June 2013 U.S. Supreme Court ruling against Myriad Genetics; the court unanimously ruled genes could not be patented.
Rebecca Nagy, MS, genetic counselor and president, the National Society of Genetic Counselors.
Joy Larsen-Haidle, MS, genetic counselor, Hubert H. Humphrey Cancer Center.
“When we created the AJMC panel discussions, we hoped to create environments that would advance the debate on key issues in cancer treatment,” said Michael J. Hennessy, chairman and chief executive officer of AJMC. “By bringing together the right experts, we have exceeded our own hopes.”
Participants agreed that the use of and interest in genetic testing has soared, but especially since the spring, when the issue reached a broad level of consumer awareness with the Myriad
case before the Supreme Court, coupled with actress Angelina Jolie’s announcement that she had quietly had both breasts removed due to the presence of a BRCA1 mutation.
By many measures, interest and testing are both up: Finley reported that Cigna has seen a 15 percent annual rise in genetic testing. Matloff said calls to her center soared 40 percent in the wake of Jolie’s announcement and the Myriad
ruling. “We suddenly had all of these options, and we could order a lot more testing for either less money or certainly the same amount of money were paying for BRCA analysis from Myriad,” Matloff said. “This is a good and bad thing.”
Driving down costs makes testing more accessible, but the amount of information can overwhelm patients and primary care physicians if experienced genetic counselors are not part of the process, the panelists agreed. For example, Finley noted that a negative result for a BRCA1 or BRCA2 mutation does not mean a woman will never get breast cancer – there are also other genes involved in cancer risk. Yet Brawley said most callers to the American Cancer Society’s 800-number in the wake of the Jolie announcement ask about BRCA and nothing else.
Barriers to genetic counseling are coming down. Both Nagy and Larsen-Haidle said options like telephone counseling or Skype can reach patients in rural areas. Despite the “myth” that such tools are less effective than in-person counseling, Nagy said research shows, “there really is not a significant difference. The patients still feel satisfied.”
Panelists offered examples of what can happen to consumers when genetic counseling is skipped:
Ordering the wrong test. There are dozens of genes involved in cancer development. Patients may be concerned only about BRCA, and not know about another mutation that is more likely to occur in her family. Claims data reveal cases in which a test is ordered that does not even answer the patient’s question.
Spending too much. Nagy said once a mutation is identified, others in the family should be able to order a less expensive test that looks only for that specific mutation. But sometimes, rather than “cascade” testing, every family member orders the expensive initial round, wasting thousands of health care dollars.
Use of direct-to-consumer tests. Test kits ordered off the Internet often skirt FDA and FTC regulations by claiming to be for “entertainment” purposes. A GAO report1 found that four samples sent to four different test companies produced four completely different results.
Emotional anguish or drastic steps. Patients without counseling may undergo expensive surveillance or surgery, such as breast removal, that later turns out to be unnecessary.
Finley said the ruling will drive down unit costs for tests. The next challenge for controlling costs involves making sure that those who need tests get them and get the right tests, and those who do not need tests do not overuse them. The genetic counselors agreed. Matloff said improper testing and lack of counseling leads to increased “downstream” costs in unnecessary treatments.
“For the healthcare resources that we have, it’s important for us to start targeting those healthcare dollars towards care that actually makes a difference and improves the health of our patients and family members,” Larsen-Haidle said.