The current marketplace for direct-to-consumer (DTC) genetic testing is very dynamic and fluid. At least 42 DTC genetic testing companies have been identified to date, and additional market entrants are likely. Firms marketing and selling genetic tests DTC have numerous factors to consider. This report focuses on health-related decision-making applications of DTC genetic tests and examines various components of this emerging business environment:The rapidly evolving science and technology The complex framework of regulatory oversight Social and ethical issues, including genetic privacy Consumers’ attitudes toward genetic testing Activities of companies shaping this sector Views of industry leaders through exclusive interviews Genetic testing has come a long way since development of the first genetic test in 1963. According to the National Institutes of Health, almost 1,500 genetic tests are now in use. Under the traditional business model, tests are performed with a physician’s involvement, from ordering the test to communication of its results. But with the confluence of the Internet and completion of the Human Genome Project, the procurement of genetic tests is migrating from health professional-controlled domains to cyberspace, where these tests are available to anyone. Marketing and selling genetic tests directly to consumers not only adds a new business model that can exclude the consumer’s physician but raises scientific, regulatory, and even ethical issues.  

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Direct-To-Consumer Genetic Testing: Business Prospects in the
United States
Published on March 2009
Report Summary
The current marketplace for direct-to-consumer (DTC) genetic testing is very dynamic and fluid. At least 42 DTC genetic testing
companies have been identified to date, and additional market entrants are likely. Firms marketing and selling genetic tests DTC have
numerous factors to consider. This report focuses on health-related decision-making applications of DTC genetic tests and examines
various components of this emerging business environment:
The rapidly evolving science and technology The complex framework of regulatory oversight Social and ethical issues, including
genetic privacy Consumers’ attitudes toward genetic testing Activities of companies shaping this sector Views of industry
leaders through exclusive interviews Genetic testing has come a long way since development of the first genetic test in 1963.
According to the National Institutes of Health, almost 1,500 genetic tests are now in use. Under the traditional business model, tests
are performed with a physician’s involvement, from ordering the test to communication of its results. But with the confluence of
the Internet and completion of the Human Genome Project, the procurement of genetic tests is migrating from health
professional-controlled domains to cyberspace, where these tests are available to anyone. Marketing and selling genetic tests directly
to consumers not only adds a new business model that can exclude the consumer’s physician but raises scientific, regulatory,
and even ethical issues.
Table of Content
Chapter 1GENETIC TESTING: YESTERDAY AND TODAY1.1. PKU: The First Genetic TestPhenylketonuriaSuccess with PKU
Testing Initiates Screening of Newborns for Other Inherited DiseasesNewborn Screening Is the Largest Segment of Testing for
Gene-Based Disorders Today1.2. Societal Issues Emerge as Testing for Genetic Diseases EvolvesSickle Cell Trait and Tay-Sachs
DiseaseTay-Sachs Disease: Incidence, Etiology, and PathogenesisGenetic Testing of Asymptomatic Gene Carriers Influences Family
Reproductive DecisionsThe Next Wave of Carrier Screening: Neural Tube Defects, Cystic Fibrosis, and Huntington’s
Disease1.3. NIH Helps Redefine Genetic Testing for a New AgeAdoption of DNA “Fingerprinting” Is Embraced1.4.
BRCA1 and BRCA2: A New Breed of Genetic Testing for Hereditary Breast and Ovarian Cancer (HBOCBackground on Hereditary
Breast and Ovarian CancerMyriad Genetics Commercializes HBOC Genetic TestingDTC Genetic Testing Rapidly Expands Following
Myriad’s DTC Marketing Success1.5. Genetic Testing in Medicine TodayChapter 2TODAY’S REGULATION OF
GENETIC TESTING2.1. The Emerging Business EnvironmentAn Evolving Supply Chain Embracing New Technologies Drives a
Growing Need for Regulatory Reform2.2. Regulatory Oversight Several Agencies Have Oversight of Clinical Laboratory Tests and
Devices, but Regulatory Gaps ExistAn Overview of How Genetic Testing Is Currently Regulated in the United StatesFDA’s
Role Covers Equipment, Reagents, and Laboratory TestsMedical Devices and In Vitro Diagnostics (IVDs)Analyte Specific Reagents
(ASRs)Laboratory Developed Tests (LDTs)Centers for Medicare & Medicaid Services (CMS) Regulates Laboratories, Their Testing
Services, and Their ReimbursementThe Federal Trade Commission (FTC) Oversees All Print, Media, and Internet AdvertisingThe
CDC’s Role Is Primarily One of Scientific AdvisorDHHS Addresses Issues Associated with Genetic Testing under the
Secretary’s Advisory Committee on Genetics,Health, and Society (SACGHS)2.3. Business ImplicationsThe US Federal
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Regulatory Environment Favors Entrepreneurial Genetic Testing Companies…But Each of the 50 States Has Its Own Suite of
Regulations, Creating Confusion for DTC CompaniesRecent Regulatory Initiatives: States Step In When Federal Regulators Appear
Slow to ActNew York State Quietly Begins the ChallengesCalifornia’s Recent Citations to DTC Companies Were Accompanied
by Print Media and Online Fanfare, Especially in the Gene-Blogosphere CommunityWhat Was At Stake for Personal Genomics
Companies in the California Order'How Did Companies Respond to Regulatory Challenges'The Outcome and Remaining
IssuesImplications of the California DecisionWhat Remaining Issues Could Surface With Other State or Federal RegulatorsPersonal
Information Services versus Medical Testing Data How Are a “Diagnostic” or Clinical Laboratory Test and an
“Authorized Provider” Legally Defined'Does Telling Someone They Have a Certain Genetic Profile, or Providing Them
With a Genetically Based Disease-Risk Assessment, Constitute Relevant Clinical Information'California Regulators, As Well As
Others in the Medical and Federal Policy Communities, Have Argued That DTC Genetic Testing Companies Pose a Danger to
Consumers2.4. The Regulatory Outlook: Federal Regulation Grows More LikelyCongressional ActivitiesWhat Lies Ahead2.5. Points
to Ponder for Personal Genomics Companies2.6. The Genetic Information and Non-Discrimination Act of 2008 (GINA)GINA Removes
Some, But Not All, Concerns Relating toProtection from Genetic DiscriminationChapter 3DIRECT-TO-CONSUMER GENETIC
TESTING: THE INDUSTRY TODAY3.1. Will Medical Genetics Evolve To A Consumer Business'The “Distribution
Revolution”3.2. Direct-To-Consumer Genetic Testing CompaniesIndustry Segmentation TodayLaw
Enforcement/Forensics“Recreational Genomics/GeneticsAncestry/Genealogy TestingPersonal TraitsNutritional
Genetics/GenomicsA Dynamic and Fluid Marketplace3.3. For Personal Genomics, Myriad Genetics Helps Set the Stage3.4.
Direct-To-Consumer Genetics and Genomics: Personal Genomics Companies Launched in November 2007New Genome-Scan
Entrants Celebrated Their First Birthday in November 200823andMeNavigenicsdeCODEmeKnome3.5. Other DTC Genetic Testing
Companies Debuted a Little Earlier, With Less FanfareDNA DirectOther Genetic Testing Companies AboundChapter 4
UNDERSTANDING CONSUMERS…THE BIGGEST VARIABLE IN THE PERSONAL GENOMICS BUSINESS EQUATION 4.1.
A Survey Sampling: Attitudes about Genetics, Genomics, and Genetic Testing Among Different Consumer GroupsBurrill &
Company/ChangeWave Research’s Personalized Medicine and Wellness Survey, May 2008Cogent Research’s
“Cogent Genomics Attitudes and Trends” (CGAT) Survey, 20084.2. Consumer Segmentation: Sorting the US
Population by Opinions, Attitudes, and Values Regarding Use of Genetic Information for Health Optimization4.3. Physician Market
Research: Important, But Still Limited4.4. The Bottom Line Derived From Preliminary ResearchChapter 5THE BUSINESS OUTLOOK
FOR DIRECT-TO-CONSUMER GENETIC TESTING5.1. Rapid Technology ChangeThe Archon X PrizeThe Race to
Commoditization…The $1,000 GenomeInformation Overload: So We Can Sequence an Entire Human Genome…Now
What'5.2. Likely Regulation5.3. An Uncertain Future with Consumers5.4. Will Consumer Genomics Be a Means to a Different End'
Chapter 6EXPERT INTERVIEWS6.1. Linda Avey, Cofounder, 23andMe, Mountain View, CA6.2. Mari Baker, Chief Executive Officer,
Navigenics, Redwood Shores, CA6.3. George Church, PhD, Professor of Genetics, Harvard Medical School, Director, Lipper Center
for Computational Genetics, Boston, MA; Founder, Knome, Cambridge, MA6.4. Fred Ledley, MD, Professor and Chair, Natural
Sciences Department, Bentley University; Founder and Chair of My Genome6.5. Gilbert Leveille, PhD, Executive Director, Wrigley
Science Institute, William Wrigley Jr. Company, Chicago, IL; Scientific Advisory Board Member, Sciona, Aurora, CO6.6. Ryan Phelan,
Chief Executive Officer, DNA Direct, San Francisco, CA6.7. Dietrich Stephan, PhD, Cofounder and Chief Science Officer, Navigenics,
Redwood Shores, CA6.8. Peter Vitulli, Chief Executive Officer, Sciona, Aurora, CO6.9. Christy White, Founder and CEO, Cogent
Research, Cambridge, MAAppendix ARECOMMENDED NEWBORN SCREENING TESTS FOR US BIRTHSAppendix BGENERIC
COPY OF CALIFORNIA DEPARTMENT OF PUBLIC HEALTH’S “CEASE-AND-DESIST” LETTER SENT TO 13
GENETIC TESTING COMPANIESAppendix CSELECTED COMPANY PROFILES23andMeManagement Summary and Board of
DirectorsCompany Vision and MissionGenetic Testing ServicesBioMarker Pharmaceuticals Company DescriptionProducts and
ServicesDietary Supplement ProductsManagement TeamBoard of DirectorsScientific Advisory BoardTechnology PlatformsConsumer
GeneticsCompany Description and MissionManagementCyGene Direct (CyGene Laboratories)Background and DescriptionMission
and VisionProducts and Services Offered (since 2006)ManagementTechnology DevelopmentsAlliancesScientific Advisory
BoardFinancial SummarydeCODE geneticsCompany DescriptionRecent Scientific DevelopmentsFinancial SummaryDNA
DirectCompany DescriptionMissionBusiness ModelCompany Standards and Criteria for Offered TestsThe Test Purchasing
ProcessPrivacy and SecurityInvestorsManagementServices OfferedOther Company InitiativesBoard of DirectorsMedical
AdvisorsGenelex CorporationCompany DescriptionCompany MissionProducts and ServicesAwards and RecognitionCompany
LicensesManagementOther Products OfferedKnomeCompany DescriptionPartnershipsManagement and
AdvisorsTechnologyProducts and ServicesLabCorpCompany DescriptionManagement TeamBoard of DirectorsGenetic Testing
CapabilitiesLifeCodeCompany DescriptionNavigenicsCompany BackgroundManagementMission and VisionGenetic Testing
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ServicesOther InformationNavigenics’ Clinical Advisory BoardNavigenics’ Scientific Advisory BoardNavigenics’
Genetics Counseling Task ForceNavigenics’ Policy and Ethics Task ForceScionaCompany DescriptionInvestorsProducts and
ServicesManagementTechnologyBoard of DirectorsScientific and Business Advisory BoardCurrent Research
CollaborationsSeqWrightCompany DescriptionMissionProducts and ServicesOverview of Genomic Profiling ServiceProfessional
StaffScientific Advisory BoardRegulatory ComplianceSmart GeneticsCompany DescriptionMissionManagement TeamBoard of
TrusteesExpert AdvisorsProduct OfferingsSuracellCompany DescriptionManagement and Advisory TeamProduct
LinesPartnershipsFinancial SummaryReferencesCompany Index with Web AddressesFigures and TablesFigure 2.1.
Direct-To-Consumer Genetic Testing: Challenging Traditional Business ModelsFigure 2.2. U.S. Department of Health & Human
Services Organizational ChartFigure 4.1. The Health Managment ModelTM Table 1.1. Myriad Genetics: Genetic Testing Launch
TimelineTable 1.2. Current Applications of Genetic Testing in MedicineTable 2.1. DTC Genetic Testing Companies In Receipt of
Advisory Letters from the NY State Department of HealthTable 2.2. California Issues Cease-and-Desist Orders to 13 DTC Genetic
Testing Companies in June 2008Table 3.1. Genetic Testing and the Internet Foster a 'Distribution Revolution“Table 3.2.
Companies Selling Genetic Tests Directly to Consumers Identified Online (as of February 2009)Table 3.3. National Society of Genetic
Counselors’ Direct-to-Consumer Genetic Testing RecommendationsTable 3.4. American College of Medical Genetics’
Direct-to-Consumer Genetic Testing GuidelinesTable 5.1. Representative Next-Generation Sequencing Companies
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