Direct-to-consumer genetic testing: access and marketing.

The American College of Medical Genetics (ACMG), in their “Statement on Direct-to-Consumer Genetic Testing”1 (in this issue of Genetics in Medicine), argues for the involvement of appropriately qualified health care professionals in the ordering and interpretation of genetic tests, and the counseling of individuals and families regarding the meaning and significance of the test results. They point out the potential harms that may result if such health professionals are not involved, including misused tests, misinterpreted results, and misguided follow-up. We feel that this statement from the ACMG will not only educate the public and professionals about this issue, but will also lead to further discourse. In this commentary, we will provide a brief background for these discussions. One argument in favor of direct-to-consumer testing relies on respect for patient autonomy. Such reliance, however, ignores the need for information if autonomy and decisionmaking are to be meaningful. We acknowledge and cherish the autonomy of individuals to make decisions regarding their own health care. Geneticists show respect for and uphold autonomy through nondirective counseling. We agree with the ACMG, however, that decisions regarding whether and how an individual wishes to use a genetic test, and the information derived from it, should be informed by discussions with a knowledgeable health professional. Others argue that direct access to genetic testing reduces health care costs by eliminating the need for consultation with trained professionals. However, this argument fails to account for the costs likely to result from the uninformed and unnecessary uses of genetic tests and from the adverse consequences of inappropriate responses to test results, whether positive or negative, valid or invalid. Such consequences can include underuse and overuse of health care resources. Concerns regarding direct access to genetic testing are closely tied to concerns about direct-to-consumer advertising and marketing of genetic testing. Arguments have been made for direct-to-consumer marketing of genetic tests based on experience with direct-to-consumer advertisement of prescription drugs.2 Benefits cited by advocates include increased compliance and facilitation of patient-physician communication (based on the required “talk with your doctor” phrase). In the context of genetic tests, benefits of direct-to-consumer advertising may include an increased awareness of the importance of family history, the relation between risk and family history, the role of genetics in disease, and the value of genetic counseling. When advertisements for genetic tests are presented on the Internet or in the media by a commercial entity, however, significant clinical information may be missing. For example, there is frequently no information provided regarding the clinical validity and utility of the test. Consumers are not advised, for example, whether a test will provide the answers they are seeking regarding a particular disorder. An individual consumer is unlikely to know the positive predictive value (probability that a positive test result indicates the person will develop the disorder) or the negative predictive value (probability that a person will not develop a disorder if the test does not find a mutation) of the test. The consumer also is unlikely to know the performance characteristics of that test in the specific context in which they are requesting the test result; e.g., test performance may be very different in the presence or absence of a positive family history for the disease, or in the presence or absence of a known mutation. A consumer also may not be able to determine whether a particular genetic test is appropriate for them in the absence of consultation with a trained health professional.2 For example, a woman with a family history of breast cancer who is concerned about her risk for breast cancer (consultand) would do better to have a sample from an affected relative who meets the criteria for familial breast cancer (proband) tested for mutations in BRCA1 and BRCA2 than to have her own sample tested. If the proband did not have a BRCA1 or BRCA2 mutation, then the consultand would be at no different risk for breast cancer before or after she was tested. An appropriately trained health professional can help the consultand identify the best proband(s) for initial testing in order for the consultand to receive the best and most useful information from their genetic testing.2,3 Without this kind of health professional involvement and counseling, direct-to-consumer advertising may reinforce an erroneous deterministic interrelationship between genotype and phenotype.4 An appropriately trained health professional also would be able to advise the consultand regarding the actual information that may be available from the test, as well as its potential utility. The difficulties encountered in the interpretation of genetic test results are well-recognized.3 The public generally expects to receive a definitive, yes/no answer from a medical test. Results from genetic tests often inform only the estimation of the probability of developing a disease or the predictive risk of From the Departments of Human Genetics and Pediatrics, David Geffen School of Medicine at UCLA; UCLA Center for Society, the Individual and Genetics; and Mattel Children’s Hospital at UCLA, Los Angeles, California.