American Academy of Family Physicians: Policy on Direct to Consumer Genetic Testing

1. American Academy of Family Physicians: Policy on Direct to Consumer Genetic Testing Jean Henry, Jeff Maler & Kelly Yostel

2. Who is the AAFP • The American Academy of Family Physicians is the largest national medical organizations, representing 105,900 family physicians, family medicine residents and medical students nationwide. • It was founded in 1947 with the mission to improve the health of patients, families and communities by serving the needs of members with professionalism and creativity.

3. Availability of Testing • The AAFP recommend that genetic testing be available to trained physicians in detecting gene variations associated with specific diseases and conditions.

4. AAFP Stance • Ordering full spectrum genetic tests for all patients is not recommended or cost effective, a family history report is recommend because its cost effective and quick.

5. AAFP Stance on Direct to Consumer Advertising… AAFP supports efforts by manufacturers of health related products and services to provide general health information to the public..

6. AAFP Stance on Direct to Consumer Advertising… AAFP allows DTC advertising when: • Advertisements must conform to applicable laws, including FDA and or FTC guidelines. • Advertisements must be labeled as such • Information should be accurate, balanced, objective and complete, not false or misleading and should not promote unhealthy or unsafe practices. • If specific properties or indications are mentioned, then negative or adverse reactions and effects should likewise be mentioned, in a manner that is equitable in respect to time, font size, speed of information etc., to ensure information is accessible and understood by the consumer

7. AAFP Stance on Direct to Consumer Advertising… AAFP allows DTC advertising when: 5. Advertisements should not promote the use of products that have addictive or abuse potential 6. If advertisements direct the consumer to a physician, referral should be to the consumer’s family or personal physician. The AAFP considers it inappropriate and unethical for an advertiser to act as a referring agent, due to the consumer’s lack of awareness of any potential conflict of interest associated with such a referral.

8. Concerns of Primary Care Physicias • Most PCP tend to be skeptical of the clinical utility of DTC genetic testing and do not feel prepared to answer patient questions on the subject. • Education about clinical utility, privacy issues, and the pros and cons of testing is needed if DTC genetic testing becomes more widely used • Genetic counselors should play a key role in providing this education to physicians, PCPs and consumers.

9. Informed Consent • It is imperative to provide counseling to patients regarding their referral for genetic counseling. • Primary care physicians often report a lack of confidence in counseling patients about follow up procedures from genetic screening and needed interventions.

10. Informed Consent • “One difficulty with informed consent is the uncertainty of what genetic informatin can tell us about disease and other traits, and how this information can be used or misused now and in the future” • Report to Oregon page 4

11. AAFP Journal regarding Genetic Testing • Current genetic tests for complex diseases are not diagnostic. They instead provide important information about susceptibility and can be key in prevention. • Although the complexity and sophistication of genetic testing is increasing, regulatory oversight is a problem. Advertising for genetic tests is regulated by the FTC. The FTC may take formal action against the creators of fraudulent advertisements; however, the enormity of the Internet makes these advertisements difficult to regulate.

12. AAFP Journal regarding Genetic Testing • On the other hand, the US FDA regulates diagnostic testing kits. Unfortunately, many genetic tests are not kits but rather freestanding tests developed by laboratories and offered directly to patients. The FDA calls these tests “home brews” and regulates only their components, which need only to conform to general standards (e.g. good manufacturing practices)

13. AAFP Journal regarding Genetic Testing • Because of this current lack of regulatory oversight, consumers should be wary of direct-to-consumer advertising. Direct-to-consumer marketing of genetic tests may 1 oversimplify complex information, 2 mislead patients by not disclosing all of the risks and limitations of a test and 3 claim validity or clinical utility when it has not been established. Even if a predictive genetic test has been validated and its results offer a change in clinical intervention, patients whose test show genetic mutations may feel as though they have been diagnosed with a disease or that disease is eminent.Without adequate interpretation and counseling by a physician, the tests may cause unneeded anxiety. Furthermore a physician is needed to apply genetic tests results to the patient’s entire life span as well to his or her family members.

14. American College of Medical Genetics • The American College of Medical Genetics has issued a policy statement that discourages the use of genetic testing unless it is provided by a qualified healthcare professional. • Important quotes from the statement: • Involvement of qualified professionals in the ordering and interpretation of genetic tests • Counseling by professionals to the individual and families regarding the meaning and significance of the test results • Potential harms that may result if health professional is not involved • Misused tests • Misinterpreted results • Misguided follow-up

15. Government Accountability Office • To investigate the advertising methods used to sell DTC genetic products, we reviewed the Web sites of a nonrepresentative selection of 15 genetic testing companies, including the 4 from which we purchased tests. • Posing as fictitious consumers, we made contact with these companies, both by phone and in person, seeking additional information about genetic testing. During these contacts, we asked a series of questions about the reliability and usefulness of test results, privacy policies regarding consumers’ genetic information, and the sale of supplements or other products. • To assess the accuracy and reasonableness of the marketing claims, we again consulted with external experts in the field of genetics.

16. GAO Test Different companies often provide different results for identical DNA: • Each donor received risk predictions for the 15 diseases that varied from company to company, demonstrating that identical DNA samples produced contradictory results. • Specifically, in reviewing the test results across all four companies for the donors’ factual profiles, we found that Donor 1 had contradictory results for 11 diseases, Donor 2 for 9 diseases, Donor 3 for 12 diseases, Donor 4 for 10 diseases, and Donor 5 for 9 diseases.

17. GAO Test • These contradictions can be attributed in part to the fact that the companies analyzed different genetic “markers” in assessing the donors’ risk for disease. • As described in a recent article published in the science journal Nature, researchers determine which markers occur more frequently in patients with a specific disease by conducting “genome-wide association studies, which survey hundreds of thousands or millions of markers across control and disease populations.” • 6 DTC companies use these publicly available studies to decide which markers to include in their analyses, but none of the companies we investigated used the exact same markers in its tests. For example, Company 1 looked at 5 risk markers for prostate cancer, while Company 4 looked at 18 risk markers.

18. GAO Test • Dr. Jeff Shuren, who works for the FDA states: • the FDA has observed numerous problems with such tests and their marketing in recent years, including the presentation of fraudulent data, faulty data analysis, exaggerated clinical claims, poor clinical study design and unacceptable clinical performance. • "These tests have not been proven safe, effective or accurate," Shuren said, "and patients could be put at risk by making medical decisions based on data that has not received independent premarket review.“

19. In summary • The AAFP believes: • DTC genetic testing should be highly discouraged • Genetic testing should be available through healthcare providers for diagnosis confirmation and carrier statues • Recommends the use of Genetic Counselors for education, counseling and overall testing • Healthcare providers should be educated on informed consent to include: • Privacy • Problems with testing • Validity • Utility • Emotional/personal affects of the knowledge

20. Sources • American College of Medical Genetics – • http://genetics.ucla.edu/courses/hg236b/McCabe_McCabe_2004.pdf • AAFP Curbside Consolation – • http://www.aafp.org/afp/2006/0201/p540.html • AAFP Policy Statement on DTC advertising • http://www.aafp.org/online/en/home/policy/policies/d/directad2.html • AAFP article on GAO Accountability • http://www.aafp.org/online/en/home/publication/news/news-now/health-of-public/20100811gaoreport-genetictests.html • Policy Statement on home test kits • http://www.aafp.org/online/en/home/policy/policies/h/hometestkits.html • Oregon report to state legislator on genetic privacy • http://public.health.oregon.gov/diseasesconditions/geneticconditions/documents/ACGPR2011legreport.pdf