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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. History Part I—Up to 2006.

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Why are we here the history and landscape of dtc genetic tests

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.


March 8, 2011

History part i up to 2006
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

History 2007 and 2008
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

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

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

More history 2010
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


  • 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

Today s landscape
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

Test and testing variety
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

Tests available
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

Technology and science
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


  • 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

So why are we here
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

For discussion by panel
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

Why are we here the history and landscape of dtc genetic tests

Thank You!