Why Are We Here? The History and Landscape of DTC Genetic Tests

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

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 • Joint FDA/FTC/CDC “Healthy Dose of Skepticism" statement published in July 2006 • http://www.ftc.gov/bcp/edu/pubs/consumer/health/hea02.pdf

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. 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. 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. 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 • 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 • 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_2010.pdf

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