If it runs in your family, it doesn’t have to be your destiny. Find out if genes are really involved and what you can do about them," states the Home Page of DNA Direct (www.dnadirect.com), a direct-to-consumer genetic testing service. I filled out an online questionnaire, indicating my Ashkenazi Jewish ancestry, and that I have no family history of either cystic fibrosis or breast cancer, and I was offered cystic fibrosis (CF) testing ($’60) and testing for the breast cancer gene, BRCA ($695).
One of DNA Direct’s genetic testing kits.
Most Ashkenazi Jews are aware there is a higher incidence of certain genetic mutations within their population group that are associated with genetic disorders. Genetic tests are available that can reveal the presence of some of these genetic mutations and markers.
Some of these tests, such as the ones for CF and BRCA genes, are now easily available to order online or by phone; the tests are completed by sending a cheek swab or blood sample (procured by a local lab) to the company for analysis. But are the tests that are being offered to consumers appropriate? Will the information gained be useful, or are they a waste of money? Even worse, might the results, in the absence of extensive counseling, cause personal suffering and distress?
One company, DNA Direct, is providing such a service online. "The company appears to be promoting their product to two groups: individuals with geographic limitations to the appropriate health-care providers, and individuals who want to keep genetic results a secret," explained Teaneck resident Peggy Cottrell, a certified genetic counselor at the Dickstein Cancer Treatment Center at White Plains Hospital. "Offering services to individuals who live too far away from large cancer centers, that provide genetic counseling, could be an appropriate use of this company’s services. However, I would be concerned about individuals who use DNA Direct because they want to keep results of testing a secret from their health-care providers. There is no data that discrimination in medical insurance based on BRCA testing exists, and marketing the testing to people who want more privacy helps promote this erroneous fear."
She explained that genetic counseling and testing are commonly covered by health insurance plans. "It is a shame to see people pay out-of-pocket because of fear of discrimination," she continued. "Individuals who test positively usually need to tell their insurance company, in order to get coverage for the medical management necessary to reduce the risk of dying from cancer." For instance, if a woman discovered that she carried a BRCA1 or BRCA’ mutation associated with a high risk for breast cancer, she would have to share the information with her insurance company in order to qualify for increased cancer screening, prescriptions to reduce cancer risks, and prophylactic surgery.
Cottrell also noted how important it is to share genetic information with family members. "Too much emphasis on ‘privacy’ may discourage disclosure of results to other family members who may benefit."
The DNA Direct Website provides prescreening information to consumers, but the information is complex and needs to be carefully considered before decisions to test are made; the information presented can be confusing and even misleading. After offering me the BRCA "multisite testing" for "the three mutations associated with hereditary breast and ovarian cancer in people with Ashkenazi Jewish ancestry," the automated prescreening analysis suggested that the test "may not be appropriate," since "the American Society of Clinical Oncology recommends that genetic testing be offered when you have a personal or family history that suggests hereditary cancer."
To be sure, the DNA Direct Website discouraged me from testing for Thrombophilia (blood clotting disorders), indicating "Genetic testing has potentially LOW BENEFIT [emphasis theirs] for you." However, just below these words of advice, the site still offered me the test, just a click away, at a cost of $380.
The most outrageous response I found on DNA Direct was when I posed as an infertile woman, under age 33, whose partner has had "abnormal semen analysis." In response to this profile, I was offered Chromosome Analysis and Fragile X Testing (price: $837). The Web- site explained, "people who have extra, missing, or rearranged chromosomes … may experience reproductive difficulties." My fictitious partner’s semen analysis (and his chromosomes) were not addressed, nor were his reproductive difficulties considered.
DNA Direct does offer the services of a genetic counselor by phone, to review the written report after the genetic testing is complete. This feature could be helpful in the dissemination of the information to clients, but may still be inadequate for proper evaluation of the test in the context of the medical history and the patient’s health.
The American College of Medicine Genetics Policy Statement (‘004) states, "Due to the complexities of genetic testing and counseling, the self-ordering of genetic tests by patients over the telephone or the Internet, and their use of genetic ‘home testing’ kits, is potentially harmful. Potential harms include inappropriate test utilization, misinterpretation of test results, lack of necessary follow-up, and other adverse consequences."
The Federal Trade Commission (FTC Facts, July ‘006) recommends "a healthy dose of skepticism" with regard to at-home genetic testing. The newsletter cautions, "According to the Food and Drug Administration (FDA), which regulates the manufacturers of genetic tests; and the Centers for Disease Control and prevention (CDC), which promotes health and quality of life, some of these tests lack scientific validity, and others provide medical results that are meaningful only in the context of a full medical evaluation."
"Genetic testing provides only one piece of information about a person’s susceptibility to disease," continues the FTC publication. "Other factors, like family background, medical history, and environment also contribute to the likelihood of getting a particular disease. In most cases, genetic testing makes the most sense when it is part of a physical exam that includes a patient’s family background and medical history."
Cottrell indicated her strong concerns regarding "other direct-to-consumer genetic tests that do not offer genetic counseling to help in the interpretation of genetic results." Some such sites, according to the United States Government Accountability Office, may, in fact, "mislead consumers by making predictions that are medically unproven."
The educated consumer should keep in mind that, according to the FTC, "No at-home genetic tests have been reviewed by the FDA, and the FDA has not evaluated the accuracy of their claims."