1. Why Are We Here? The History and Landscape of DTC Genetic Tests Elizabeth Mansfield, Ph.D. OIVD/CDRH/FDA March 8, 2011 Molecular and Clinical Genetics Panel for Direct-to-Consumer (DTC) Genetic Tests

2. 2 History Part I—Up to 2006  Companies offering “nutrigenetics” and other genetic testing directly to consumers  Genetic “profiles” generated and recommendations plus nutritional or other supplements offered based on profiles  2006 GAO Nutrigenetics report and Senate Special Committee on Aging hearing  Offerings “medically unproven” and “ambiguous”  http://www.gao.gov/new.items/d06977t.pdf http://www.gao.gov/new.items/d06977t.pdf  Joint FDA/FTC/CDC “Healthy Dose of Skepticism" statement published in July 2006  http://www.ftc.gov/bcp/edu/pubs/consumer/health/hea02.pdf http://www.ftc.gov/bcp/edu/pubs/consumer/health/hea02.pdf

3. 3 History—2007 and 2008  Around 2007, several new DTC genetic testing companies launched  Leverage high-content technologies  Non-certified facilities provide results  CA and NY issue “cease and desist letters”  Companies claim information for “informational and educational use only”  Provide some genetic information without clinical claims

4. 4 History—2009  SACGHS opens discussions on direct to consumer testing.  FDA sends “it has come to our attention” letters and meets with several DTC companies  Companies uniformly claim “laboratory developed test (LDT)” status  LDTs generally may be offered without complying with FDA regulations  More companies begin offering DTC genetic testing, for a wide variety of claims

5. 5 History—2010  May 2010, Pathway Genomics and Walgreens announce deal to offer collection kits for DTC tests OTC  FDA sends “It has come to our attention” letter to Pathway, stating that the product offered appears to be a medical device  FDA subsequently sends similar IHCTOA letters to 19 additional companies offering DTC genetic testing  Through meetings with companies, FDA determines that many DTC companies do not fit the LDT model  Decides that enforcement discretion is not appropriate for DTC tests  Requests premarket submissions for all genetic tests that will continue to be offered DTC  Many companies state they will exit DTC genetic testing market

6. 6 More History—2010  July 2010, GAO reports to House E & C Subcommittee on Oversight and Investigations  “Misleading results” and “deceptive marketing”  http://www.gao.gov/new.items/d10847t.pdf http://www.gao.gov/new.items/d10847t.pdf  FDA testimony  FDA “should have acted sooner” (oral testimony)  FDA is working toward a reasonable and fair approach to regulation that can give patients and doctors confidence in these tests and facilitate progress in personalized medicine.  Written testimony: http://www.fda.gov/NewsEvents/Testimony/ucm219925.htm http://www.fda.gov/NewsEvents/Testimony/ucm219925.htm  SACGHS publishes final report on Direct to Consumer Genetic Testing, calling for FDA oversight  http://oba.od.nih.gov/oba/sacghs/reports/SACGHS_DTC_Report_20 10.pdf

7. 7 Today  Direct to consumer genetic testing remains as a business model  Some bodies have issued statements against DTC genetic model  Failure of interpretation, incorrect decision-making  Others have championed DTC genetic testing model  Personal empowerment, proactive health strategies  Others request appropriate oversight for DTC genetic testing  Protect individuals from incorrect information, protect privacy  FDA working with companies to come into compliance with FDA regulations for medical devices  Today’s panel intended to gain broad-based information on important issues in DTC genetic testing

8. 8 Today’s Landscape  DTC genetic testing field narrowed in number of companies offering tests, but…  Technological advances allow even more information to be generated from a single sample  Regulatory answers require new considerations

9. 9 Test and Testing Variety  Some DTC companies have CLIA certificates while others do not  Not all DTC genetic tests are highly multiplexed tests; some test for just one clinical claim, e.g. Alzheimer’s, CF, celiac disease, or CJD  Some are nutrigenomic  More DTC tests with medical claims, with various risk levels

10. 10 Tests Available  Some usually do not meet definition of medical device  Ancestry  Forensics  Non-medical information  Some do meet definition of medical device  Pharmacogenetic profiles  Mendelian disease mutations  Risk prediction for disease/condition  Others

11. 11 Technology and Science  Whole genome sequencing (WGS) widely available  No cleared/approved platforms to date  Genome-wide Association Study (GWAS) and other genomic studies published rapidly, widely  Understanding of gene-disease associations growing but often still preliminary

12. 12 Challenges  Patients still require protection from misleading, false information  Correct measurement, valid clinical claims  Medical device regulation must keep up with science and technology  Assessment of new technology, promote quality innovation  Healthcare community requires training in how to use new information  Wide variety of genetic information available, spectrum of usefulness

13. 13 So Why are We Here?  Perspectives  Hear broad panel of experts, invited speakers, and public commenters  Discuss difficult issues in oversight of DTC genetic testing  Consider appropriate approaches to new technology and science  Improve public benefit from scientific discovery

14. 14 For Discussion by Panel  The risks and benefits of making clinical genetic tests available for direct access by a consumer without the involvement of a clinician  The risks of and possible mitigations for incorrect, miscommunicated, or misunderstood test results for clinical genetic tests that might be beneficial if offered through direct access testing.  The level and type of scientific evidence appropriate for supporting direct-to-consumer genetic testing claims

15. 15 Thank You! Elizabeth.Mansfield@fda.hhs.gov