Genes on the Web — Direct-to-Consumer Marketing of Genetic Testing
http://www.100md.com
《新英格兰医药杂志》
With a credit card and a few clicks of their computer mouse, consumers can now order a test for the BRCA1 or BRCA2 gene mutation or any of hundreds of other diagnostic assays, all without involving their physician or health insurance plan. Direct-to-consumer marketing of genetic testing and other laboratory services has arrived.
Proponents argue that the companies offering these tests are bringing sophisticated diagnostic services to consumers who are interested in genetic testing and have the money to pay for it but lack access to clinical testing sites. And they laud the companies' promise of anonymity to consumers who fear discrimination by an employer or insurance company on the basis of a genetic predisposition to a disease. Critics counter that the companies exploit consumers' anxiety in order to sell them tests they don't need, without offering the counseling necessary to understand the results.
At www.dnadirect.com, consumers interested in BRCA testing complete a short online questionnaire that elicits their personal and family medical history and information about their ethnic background; the site's algorithm uses this information to recommend a specific test. After paying with a credit card (DNA Direct does not accept health insurance) and speaking with a counselor on the telephone, customers receive a requisition signed by the company's medical director and a test kit to take to a phlebotomist, who will draw their blood and send it to Myriad Genetics, the only U.S. company currently performing commercial BRCA testing. Results are provided to DNA Direct, which makes them available to the customer through a secure log-in on the Web site.
However, many clinicians are dubious about the quality of the genetic counseling, if any, that is provided by such companies. They question whether the counselors are appropriately trained and whether counseling conducted over the telephone is as effective as a face-to-face discussion. An ongoing study funded by the National Cancer Institute is evaluating such telephone counseling.
DNA Direct, for its part, reports that genetic counselors (certified by the American Board of Genetic Counseling) conduct all counseling, which includes a telephone interview before testing and another telephone session when the results are reported. The company also provides customers with a detailed online report that contextualizes and interprets their results and makes the genetic counselor available for follow-up discussions. But not all companies build in a robust counseling feature: LabSafe, another online test provider, for instance, gives written test results but employs no genetic counselors and charges $75 for a 15-minute telephone consultation with a staff physician to review the results.
One reason that many clinicians are skeptical about the counseling provided is that these companies make money only when they sell a test. "Genetic counseling is supposed to be agnostic on whether people should get tested, I worry about a business model that is dependent on people being tested to make money," said Marc Schwartz, codirector of the Cancer Control Program at the Lombardi Comprehensive Cancer Center at Georgetown University. If you visited the DNA Direct Web site in mid-July 2006 and indicated that you were interested in testing for familial breast and ovarian cancers but reported no personal, family, or ethnic risk factors for either disease, the Web site would advise that full-sequence BRCA testing was the most appropriate, at a cost of $3,456. Ashkenazi Jews or consumers who have a family member with a BRCA mutation are advised to have more focused screening, costing $620 to $695.
Schwartz and other critics acknowledge that these companies provide consumers who are concerned about genetic discrimination the opportunity to obtain testing and genetic counseling without the results' becoming part of their medical record. Whether fear of such discrimination is justified, however, is a matter of some debate. Examples of discrimination do exist, but many observers believe that egregious cases are rare. "I think that fears of discrimination have to date been unfounded," said Mark Barnes, a health care attorney at Ropes & Gray in New York. "One has to really search for instances in which companies or insurers have discriminated against individuals on the basis of genetic testing."
Some clinicians see discrimination as the least of patients' concerns with regard to highly predictive tests for serious diseases. "Once you choose to be tested for the BRCA gene mutation, privacy is not the issue," said Judy Garber, director of the Cancer Risk and Prevention Program at the Dana–Farber Cancer Institute in Boston. "If you are negative, you don't care. If you are positive, the implications of the test to your medical care require that you communicate the results to your physician." Garber nonetheless referred a patient to DNA Direct, after genetic counseling, when the patient's concerns about privacy became an insurmountable roadblock to testing.
Anonymous testing presents complex challenges to physicians and patients. Physicians who recommend that their patients be tested anonymously for a genetic predisposition to a disease may be responsible for providing follow-up care based on the results, whether or not they document their recommendation or receive the test results. Susan Smith of North Carolina was referred to DNA Direct by her hematologist after she had two mid-trimester pregnancy losses, and tests revealed that she carries the factor V Leiden gene mutation. Smith, who was pleased with the telephone counseling she received from the company, asked her hematologist to keep the result out of her medical record for fear that she would be discriminated against, posing a dilemma for the physician.
Consumers may find themselves ineligible for life insurance or disability insurance if they report a genetic disposition to a disease. Or their insurance policies may be voided if they fail to disclose that they tested positive for a mutation and are later found out, according to Joy Pritts of the Health Policy Institute of Georgetown University. Furthermore, unlike physicians, hospitals, and the laboratories that do the actual testing, the companies that offer online testing services are not subject to the privacy restrictions of the Health Insurance Portability and Accountability Act (HIPAA), although most of them claim to be "HIPAA-compliant."
The BRCA test is only one of a growing number of tests available directly to consumers. In addition to testing for both the relatively common factor V Leiden gene mutation and the uncommon gene for Canavan's disease, these companies provide tests as mundane as a cholesterol screening panel. But they serve only as a front end; federal regulations prohibit them from performing the tests themselves. The diagnostic laboratories they use must be certified according to the Clinical Laboratory Improvement Amendments, which specify that results must be reported to the ordering clinician — not to the consumer. So each online testing company has an arrangement with a physician whose name is used to order the tests and receive the results from the labs.
There are also numerous Internet-based companies that market tests for ancestral origin or that determine whether two persons are related on the basis of polymerase-chain-reaction testing for variability in the Y chromosome or mitochondrial DNA. Some companies also market noninvasive tests for fetal sex based on the analysis of fetal DNA in the maternal circulation, although one of these companies, Acu-Gen Biolab of Massachusetts, is facing litigation stemming from testing inaccuracies.
Sharon Plon, chief of the Cancer Genetics Clinic at the Baylor College of Medicine in Houston, sums up the wariness of many physicians with regard to online genetic testing: "My biggest concern," she says, "is that members of the public are getting tests that they don't understand, and their physicians may not understand, and they may be making big decisions that are ill-informed."
On July 27, 2006, the Federal Trade Commission issued a consumer alert in an effort to address such concerns as well as privacy protection.(Adam J. Wolfberg, M.D., M)
Proponents argue that the companies offering these tests are bringing sophisticated diagnostic services to consumers who are interested in genetic testing and have the money to pay for it but lack access to clinical testing sites. And they laud the companies' promise of anonymity to consumers who fear discrimination by an employer or insurance company on the basis of a genetic predisposition to a disease. Critics counter that the companies exploit consumers' anxiety in order to sell them tests they don't need, without offering the counseling necessary to understand the results.
At www.dnadirect.com, consumers interested in BRCA testing complete a short online questionnaire that elicits their personal and family medical history and information about their ethnic background; the site's algorithm uses this information to recommend a specific test. After paying with a credit card (DNA Direct does not accept health insurance) and speaking with a counselor on the telephone, customers receive a requisition signed by the company's medical director and a test kit to take to a phlebotomist, who will draw their blood and send it to Myriad Genetics, the only U.S. company currently performing commercial BRCA testing. Results are provided to DNA Direct, which makes them available to the customer through a secure log-in on the Web site.
However, many clinicians are dubious about the quality of the genetic counseling, if any, that is provided by such companies. They question whether the counselors are appropriately trained and whether counseling conducted over the telephone is as effective as a face-to-face discussion. An ongoing study funded by the National Cancer Institute is evaluating such telephone counseling.
DNA Direct, for its part, reports that genetic counselors (certified by the American Board of Genetic Counseling) conduct all counseling, which includes a telephone interview before testing and another telephone session when the results are reported. The company also provides customers with a detailed online report that contextualizes and interprets their results and makes the genetic counselor available for follow-up discussions. But not all companies build in a robust counseling feature: LabSafe, another online test provider, for instance, gives written test results but employs no genetic counselors and charges $75 for a 15-minute telephone consultation with a staff physician to review the results.
One reason that many clinicians are skeptical about the counseling provided is that these companies make money only when they sell a test. "Genetic counseling is supposed to be agnostic on whether people should get tested, I worry about a business model that is dependent on people being tested to make money," said Marc Schwartz, codirector of the Cancer Control Program at the Lombardi Comprehensive Cancer Center at Georgetown University. If you visited the DNA Direct Web site in mid-July 2006 and indicated that you were interested in testing for familial breast and ovarian cancers but reported no personal, family, or ethnic risk factors for either disease, the Web site would advise that full-sequence BRCA testing was the most appropriate, at a cost of $3,456. Ashkenazi Jews or consumers who have a family member with a BRCA mutation are advised to have more focused screening, costing $620 to $695.
Schwartz and other critics acknowledge that these companies provide consumers who are concerned about genetic discrimination the opportunity to obtain testing and genetic counseling without the results' becoming part of their medical record. Whether fear of such discrimination is justified, however, is a matter of some debate. Examples of discrimination do exist, but many observers believe that egregious cases are rare. "I think that fears of discrimination have to date been unfounded," said Mark Barnes, a health care attorney at Ropes & Gray in New York. "One has to really search for instances in which companies or insurers have discriminated against individuals on the basis of genetic testing."
Some clinicians see discrimination as the least of patients' concerns with regard to highly predictive tests for serious diseases. "Once you choose to be tested for the BRCA gene mutation, privacy is not the issue," said Judy Garber, director of the Cancer Risk and Prevention Program at the Dana–Farber Cancer Institute in Boston. "If you are negative, you don't care. If you are positive, the implications of the test to your medical care require that you communicate the results to your physician." Garber nonetheless referred a patient to DNA Direct, after genetic counseling, when the patient's concerns about privacy became an insurmountable roadblock to testing.
Anonymous testing presents complex challenges to physicians and patients. Physicians who recommend that their patients be tested anonymously for a genetic predisposition to a disease may be responsible for providing follow-up care based on the results, whether or not they document their recommendation or receive the test results. Susan Smith of North Carolina was referred to DNA Direct by her hematologist after she had two mid-trimester pregnancy losses, and tests revealed that she carries the factor V Leiden gene mutation. Smith, who was pleased with the telephone counseling she received from the company, asked her hematologist to keep the result out of her medical record for fear that she would be discriminated against, posing a dilemma for the physician.
Consumers may find themselves ineligible for life insurance or disability insurance if they report a genetic disposition to a disease. Or their insurance policies may be voided if they fail to disclose that they tested positive for a mutation and are later found out, according to Joy Pritts of the Health Policy Institute of Georgetown University. Furthermore, unlike physicians, hospitals, and the laboratories that do the actual testing, the companies that offer online testing services are not subject to the privacy restrictions of the Health Insurance Portability and Accountability Act (HIPAA), although most of them claim to be "HIPAA-compliant."
The BRCA test is only one of a growing number of tests available directly to consumers. In addition to testing for both the relatively common factor V Leiden gene mutation and the uncommon gene for Canavan's disease, these companies provide tests as mundane as a cholesterol screening panel. But they serve only as a front end; federal regulations prohibit them from performing the tests themselves. The diagnostic laboratories they use must be certified according to the Clinical Laboratory Improvement Amendments, which specify that results must be reported to the ordering clinician — not to the consumer. So each online testing company has an arrangement with a physician whose name is used to order the tests and receive the results from the labs.
There are also numerous Internet-based companies that market tests for ancestral origin or that determine whether two persons are related on the basis of polymerase-chain-reaction testing for variability in the Y chromosome or mitochondrial DNA. Some companies also market noninvasive tests for fetal sex based on the analysis of fetal DNA in the maternal circulation, although one of these companies, Acu-Gen Biolab of Massachusetts, is facing litigation stemming from testing inaccuracies.
Sharon Plon, chief of the Cancer Genetics Clinic at the Baylor College of Medicine in Houston, sums up the wariness of many physicians with regard to online genetic testing: "My biggest concern," she says, "is that members of the public are getting tests that they don't understand, and their physicians may not understand, and they may be making big decisions that are ill-informed."
On July 27, 2006, the Federal Trade Commission issued a consumer alert in an effort to address such concerns as well as privacy protection.(Adam J. Wolfberg, M.D., M)