Science Feature - August 2008
Tex Med. 2008;104(8):43-46.
By Ken Ortolon
If a female patient walks into your office wanting a double mastectomy because she fears getting breast cancer, would you know how to counsel her?
Many Texas physicians may find themselves in exactly that position because of a direct-to-consumer advertising campaign to be launched here in September that will promote an expensive genetic screening test to identify women at high risk for relatively rare forms of breast and ovarian cancer.
And leaders of the Texas Medical Association, along with groups representing obstetricians and gynecologists, oncologists, medical geneticists, and others fear the campaign could trigger overuse of the test and swamp the state's medical genetics resources.
They hope to avoid a repeat of what happened in New York last year.
"We're going to have to get up to speed on this," said John C. Jennings, MD, District XI chair of the American College of Obstetricians and Gynecologists (ACOG). "It has the potential to create an overutilization of a relatively expensive diagnostic study and leave the medical community confused as to what to do with the results they may get." And, overuse of the test may affect the willingness of health insurers to pay for it, he adds.
A coalition that includes TMA, ACOG, the Texas Society of Medical Oncology, The University of Texas M.D. Anderson Cancer Center, UT Southwestern Health Science Center, the American Cancer Society, and others is putting together resources physicians can use to educate themselves about the test.
"Direct-to-consumer advertising has been with us forever," said Karen Lu, MD, co-medical director for clinical cancer genetics at M.D. Anderson. "If they're going to do that, let's have a positive response. Let's say this is an opportunity for us to really educate clinicians about this."
Launching the Campaign
In September, Myriad Genetics Inc. will begin an advertising campaign in Texas and Florida to promote a genetic screening test it calls BRAC Analysis . The test assesses a woman's risk for developing breast or ovarian cancer based on detection of mutations in genes known as BRCA1 and BRCA2, which play a role in the development of hereditary breast and ovarian cancers.
Myriad, based in Salt Lake City, holds the patent on the screening test and is the only laboratory in the country performing it. Dr. Jennings, past president of the Texas Association of Obstetricians and Gynecologists and regional dean of the Texas Tech University Health Sciences Center in Odessa, says the test is highly efficient at identifying the relatively rare gene mutations tied to hereditary cancers.
Gregory Critchfield, MD, president of Myriad Genetic Laboratories Inc., the diagnostic subsidiary of Myriad Genetics, says the campaign, which consists of television and radio ads, will run through spring 2009 in all major media markets in Texas. He says Myriad chose Texas and Florida because of their market size and because Myriad already has an experienced sales team in both states.
"That's important because we need to have our salespeople and our medical support personnel available to make sure that physicians can be given the time to be educated before the campaign runs," he said.
The ads encourage patients to call a toll-free number to talk with a Myriad representative about the test. They also tell the patient to discuss testing with her physician and to have the physician call Myriad to order a test kit.
"The basic message is if an individual has breast or ovarian cancer running in the family, that individual needs to talk to her doctor," Dr. Critchfield said. "There's a test to help them understand what to do about their risk."
But the test is expensive - about $3,000 - and the genetic mutations are relatively uncommon. According to statistics from the National Cancer Institute, Journal of Genetic Counseling , the U.S. Centers for Disease Control and Prevention, and other sources, between 1 in 300 and 1 in 800 people carry the gene mutation. BRCA1 and BRCA2 mutations cause only 5 to 10 percent of all breast cancers and up to 14 percent of ovarian cancers.
For women with a mutation of either BRCA1 or BRCA2, however, studies have shown the lifetime risk of breast cancer to range between 50 percent and 87 percent. The lifetime risk of ovarian cancer ranges between 15 percent and 44 percent, depending on the specific mutation.
While the test is effective, experts say testing is not appropriate for all patients.
"There are a number of women who are worried about their breasts," said Christopher Ruud, MD, president of the Texas Society of Medical Oncology and past chair of the TMA Committee on Cancer. "This promotion is going to bring a lot of those people out of the woodwork, but you don't just test anybody who's worried about it."
Dr. Lu agrees. She says women with significant family histories of cancer are at the highest risk for hereditary breast or ovarian cancer. It is important to remember that BRCA mutations can be passed either through the mother or through the father. In addition, she states, it is more effective to test a female relative who already has cancer, for example, and then, if the test is positive for a mutation, screen other female family members.
"If the female relative with breast or ovarian cancer tests negative, then it's not even worth testing the female relative without cancer," Dr. Lu said. "It's a waste of money for her."
Dr. Jennings, chair of the Texas Medicine Editorial Board, calls genetics "the cutting edge of medicine right now" and says the BRAC Analysis test can be a valuable tool when used correctly. But he fears the direct-to-consumer advertising campaign will result in a large number of women wanting the test who really do not need it.
"The test is well established, so you will know if you have those mutations," he said. "And a good genetic counselor can sit down and talk to the patient, tell her what her odds are and what the options are. On the other hand, you raise the level of concern among a number of people for whom the testing is not even indicated. They may be either inadequately or very superficially screened and then offered the test."
He says there are ethical issues for physicians. "If you get a positive BRCA1 on a 19-year-old, what do you do with it?" he asked. "There are some real questions about how you approach genetic testing and what you can and can't do about it."
The New York Experience
Dr. Critchfield says Myriad will begin educating physicians in Texas about the test before the ad campaign is launched.
"We want the doctors to be prepared and able to answer questions the patients have," he said. "It's really important, particularly for these tests, that the physician be the centerpiece of this activity. The physician talks to the patient about his or her breast or ovarian cancer risk, they do an assessment and decide whether the patient is an appropriate candidate to be tested, the testing takes place, and then the physician sits down with the individual when the test results come back and then develops a plan based on the results. So the physician is really integral to the whole process."
But physicians in other states where Myriad has run similar campaigns say they were not fully prepared to counsel patients and interpret test results, despite efforts by Myriad and state specialty societies.
Myriad conducted a similar advertising campaign in several markets along the East Coast, including New York City and Boston, beginning in fall 2007. That campaign resulted in a significant increase in the number of BRAC Analysis tests ordered.
Donna Montalto, executive director for ACOG District II, says her organization was warned in advance that the campaign was about to be launched and went directly to Myriad to ask them to work with ACOG to alert physicians.
"They provided us advance copy of all their direct-to-consumer materials, as well as provider education, which we disseminated to all of our OB/Gyn members ahead of the campaign's launch," Ms. Montalto said.
The commissioner of the New York State Department of Health also sent New York physicians information and links to resources to help them respond to questions from their patients.
Even at that, Ms. Montalto says they weren't able to provide enough information to prepare obstetricians and gynecologists to do the pre- and post-test counseling that was required.
"It's not a test result like positive or negative," she said. "It's a whole detailed explanation of your genetic history. You really need a genetic counselor to sit down and do a post-test counseling session on what those test results mean."
Myriad, she says, did not provide that counseling, and New York did not have enough genetic counselors to fill the need. "We don't have enough genetic counselors, so we needed to arm the OB/Gyns with enough information that they could have some preliminary discussions. That's what we did, but the problem was it wasn't enough."
Getting the Word Out
Texas physicians hope to learn from the New York experience and use some of the materials ACOG District 2 and the New York State Department of Health have already developed. Dr. Jennings also met with Myriad representatives in June to express physicians' concerns. He says the company is trying to work with physicians and has developed informational materials about the BRAC Analysis for both physicians and patients.
"They really are trying to do the right thing in making sure there's a cooperative effort by physicians and industry to educate physicians," he said. "But the way they're coming at it is going to be like, all of a sudden, here it is and we have to deal with it."
Dr. Jennings says Texas does not have enough genetics expertise to meet the demand for counseling and for other services needed as a result of a huge increase in the volume of these genetic tests.
"Our current knowledge of this particular genetic defect is enough that we can make a sensible recommendation to patients when they get a positive result," Dr. Jennings said. "But we're really going to stress our genetic counseling resources in this state, and we're probably going to stress some physicians because the television ad directly suggests calling your physician and asking about this."
For more information about Myriad Genetics and the BRAC Analysis test, log on to the company's Web site . Information for both patients and physicians also can be found here .
Ken Ortolon can be reached by telephone at (800) 880-1300, ext. 1392, or (512) 370-1392; by fax at (512) 370-1629; or by e-mail at Ken Ortolon .
Guidelines for Cancer Genetic Counseling or Testing
Genetic testing can effectively identify women who carry gene mutations that cause hereditary breast and ovarian cancers, but experts say testing is not called for in most women.
Hereditary breast and ovarian cancer cases make up only a small percentage of cancer cases, and experts say testing is most helpful in cases involving a significant family history of cancer. According to a Statement of Risk Assessment for Inherited Gynecologic Cancer Predispositions by the Society of Gynecologic Oncologists Education Committee, the hallmarks of hereditary cancer syndromes include multiple affected family members, early age of onset, and the presence of multiple and/or bilateral primary cancers. The committee recommends genetic risk assessment for:
- Women who have a history of both breast and ovarian cancer.
- Women who have ovarian cancer and a close relative younger than 50 who has breast cancer or who has ovarian cancer at any age.
- Women of Ashkenazi Jewish ancestry who have ovarian cancer at any age.
- Women of Ashkenazi Jewish ancestry younger than 40 who have breast cancer.
- Women younger than 50 who have breast cancer and a close relative who has ovarian cancer or male breast cancer at any age.
- Women with a first- or second-degree relative with a known BRCA1 or BRCA2 mutation.
Karen Lu, MD, co-medical director of clinical cancer genetics at The University of Texas M.D. Anderson Cancer Center in Houston, coauthored the guidelines. She says the genetic testing for BRCA1 and BRCA2 gene mutations is most helpful when performed on a cancer patient first. If the test is positive, then other female family members should be tested. Information developed by the Yale Cancer Center Genetic Counseling Program as a result of Myriad Genetics' direct-to-consumer marketing campaign of its BRCA1 and BRCA2 screening test recommends that patients be referred for genetic counseling before physicians order testing. The Yale guidelines also recommend counseling for any patient with a personal or family history of the following risk factors:
- Breast cancer diagnosed before age 45.
- Multiple cases of breast cancer on the same side of the family.
- Ovarian cancer in a family with breast cancer.
- Male breast cancer.
- The combination of breast, ovarian, and/or pancreatic cancer on the same side of the family or in a single individual.
- Jewish ancestry in combination with any of the above.
- Jewish ancestry and even one case of breast or ovarian cancer (even in the absence of other family history).
The New York State Department of Health also has resources on cancer genetics on its Web site .
The September issue of Texas Medicine will include a pullout poster on genetic screening for physicians and patients. The poster will offer a phone number for patients wishing to speak to a genetic counselor to determine whether they should pursue the test or not. In addition, the poster will include some basic facts for physicians so they might better counsel their patients.
ACOG Against Direct-to-Consumer Genetic Testing Advertising
Committees of the American College of Obstetricians and Gynecologists (ACOG) recommend discouraging direct genetic testing because of potential harm of misinterpreted or inaccurate results.
In an opinion issued in June, the ACOG Committee on Genetics and Committee on Ethics said marketing of genetic testing, although similar to direct-to-consumer advertising of prescription drugs, raises additional concerns. Those include issues of limited knowledge among patients and health care professionals of available genetic tests, difficulty in interpreting genetic testing results, lack of federal oversight of companies offering the testing, and privacy and confidentiality issues.
"All genetic testing should be provided only after consultation with a qualified health care professional," the opinion states. "For complex testing, this may involve referral to a genetic counselor or a medical geneticist. Appropriate pre-test and post-test counseling should be provided, including a discussion of the risks, benefits, and limitations of testing."
The committees also said that concerns have arisen regarding possible conflict of interest when the company providing the testing employs the genetic counselor. A company "advertising directly to consumers may receive no compensation for counseling alone and is compensated only if the test is order by the consumer," the committees wrote.
Physicians in Texas, where direct-to-consumer advertising of a genetic test to detect risk of hereditary breast and ovarian cancers is set to begin in September, also have expressed concern that the U.S. Food and Drug Administration has no authority to regulate genetic testing.
Texas Medical Association officials say representatives of the Texas Department of State Health Services say that agency also likely lacks regulatory authority over genetic testing.
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