Length 336 pages

Date published March 2009

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Direct-To-Consumer Genetic Testing: Business Prospects in the United States Table of Contents

 

Author: Kathie Wrick, PhD, RD

Chapter 1
GENETIC TESTING: YESTERDAY AND TODAY
1.1. PKU: The First Genetic Test
Phenylketonuria
Success with PKU Testing Initiates Screening of Newborns for Other Inherited Diseases
Newborn Screening Is the Largest Segment of Testing for Gene-Based Disorders Today
1.2. Societal Issues Emerge as Testing for Genetic Diseases Evolves
Sickle Cell Trait and Tay-Sachs Disease
Tay-Sachs Disease: Incidence, Etiology, and Pathogenesis
Genetic Testing of Asymptomatic Gene Carriers Influences Family Reproductive Decisions
The Next Wave of Carrier Screening: Neural Tube Defects, Cystic Fibrosis, and Huntington’s Disease
1.3. NIH Helps Redefine Genetic Testing for a New Age
Adoption of DNA “Fingerprinting” Is Embraced
1.4. BRCA1 and BRCA2: A New Breed of Genetic Testing for Hereditary Breast and Ovarian Cancer (HBOC
Background on Hereditary Breast and Ovarian Cancer
Myriad Genetics Commercializes HBOC Genetic Testing
DTC Genetic Testing Rapidly Expands Following Myriad’s DTC Marketing Success
1.5. Genetic Testing in Medicine Today
Chapter 2
TODAY’S REGULATION OF GENETIC TESTING
2.1. The Emerging Business Environment
An Evolving Supply Chain Embracing New Technologies Drives a Growing Need for Regulatory Reform
2.2. Regulatory Oversight 
Several Agencies Have Oversight of Clinical Laboratory Tests and Devices, but Regulatory Gaps Exist
An Overview of How Genetic Testing Is Currently Regulated in the United States
FDA’s Role Covers Equipment, Reagents, and Laboratory Tests
Medical 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 Reimbursement
The Federal Trade Commission (FTC) Oversees All Print, Media, and Internet Advertising
The CDC’s Role Is Primarily One of Scientific Advisor
DHHS Addresses Issues Associated with Genetic Testing under the Secretary’s Advisory Committee on Genetics,
Health, and Society (SACGHS)
2.3. Business Implications
The US Federal Regulatory Environment Favors Entrepreneurial Genetic Testing Companies
…But Each of the 50 States Has Its Own Suite of Regulations, Creating Confusion for DTC Companies
Recent Regulatory Initiatives: States Step In When Federal Regulators Appear Slow to Act
New York State Quietly Begins the Challenges
California’s Recent Citations to DTC Companies Were Accompanied by Print Media and Online Fanfare, Especially in the Gene-Blogosphere Community

What Was At Stake for Personal Genomics Companies in the California Order?
How Did Companies Respond to Regulatory Challenges?
The Outcome and Remaining Issues
Implications of the California Decision
What Remaining Issues Could Surface With Other State or Federal Regulators
Personal 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 Consumers
2.4. The Regulatory Outlook: Federal Regulation Grows More Likely

Congressional Activities
What Lies Ahead
2.5. Points to Ponder for Personal Genomics Companies
2.6. The Genetic Information and Non-Discrimination Act of 2008 (GINA)
GINA Removes Some, But Not All, Concerns Relating to
Protection from Genetic Discrimination
Chapter 3
DIRECT-TO-CONSUMER GENETIC TESTING: THE INDUSTRY TODAY
3.1. Will Medical Genetics Evolve To A Consumer Business?
The “Distribution Revolution”
3.2. Direct-To-Consumer Genetic Testing Companies
Industry Segmentation Today
Law Enforcement/Forensics
“Recreational Genomics/Genetics
Ancestry/Genealogy Testing
Personal Traits
Nutritional Genetics/Genomics
A Dynamic and Fluid Marketplace
3.3. For Personal Genomics, Myriad Genetics Helps Set the Stage
3.4. Direct-To-Consumer Genetics and Genomics: Personal Genomics Companies Launched in November 2007
New Genome-Scan Entrants Celebrated Their First Birthday in November 2008
23andMe
Navigenics
deCODEme
Knome
3.5. Other DTC Genetic Testing Companies Debuted a Little Earlier, With Less Fanfare
DNA Direct
Other Genetic Testing Companies Abound
Chapter 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 Groups
Burrill & Company/ChangeWave Research’s Personalized Medicine and Wellness Survey, May 2008
Cogent Research’s “Cogent Genomics Attitudes and Trends” (CGAT) Survey, 2008
4.2. Consumer Segmentation: Sorting the US Population by Opinions, Attitudes, and Values Regarding Use of Genetic Information for Health Optimization
4.3. Physician Market Research: Important, But Still Limited
4.4. The Bottom Line Derived From Preliminary Research
Chapter 5
THE BUSINESS OUTLOOK FOR DIRECT-TO-CONSUMER GENETIC TESTING
5.1. Rapid Technology Change
The Archon X Prize
The Race to Commoditization…The $1,000 Genome
Information Overload: So We Can Sequence an Entire Human Genome…Now What?
5.2. Likely Regulation
5.3. An Uncertain Future with Consumers
5.4. Will Consumer Genomics Be a Means to a Different End?
Chapter 6
EXPERT INTERVIEWS
6.1. Linda Avey, Cofounder, 23andMe, Mountain View, CA
6.2. Mari Baker, Chief Executive Officer, Navigenics, Redwood Shores, CA
6.3. George Church, PhD, Professor of Genetics, Harvard Medical School, Director, Lipper Center for Computational Genetics, Boston, MA; Founder, Knome, Cambridge, MA
6.4. Fred Ledley, MD, Professor and Chair, Natural Sciences Department, Bentley University; Founder and Chair of My Genome
6.5. Gilbert Leveille, PhD, Executive Director, Wrigley Science Institute, William Wrigley Jr. Company, Chicago, IL; Scientific Advisory Board Member, Sciona, Aurora, CO
6.6. Ryan Phelan, Chief Executive Officer, DNA Direct, San Francisco, CA
6.7. Dietrich Stephan, PhD, Cofounder and Chief Science Officer, Navigenics, Redwood Shores, CA
6.8. Peter Vitulli, Chief Executive Officer, Sciona, Aurora, CO
6.9. Christy White, Founder and CEO, Cogent Research, Cambridge, MA
Appendix A
RECOMMENDED NEWBORN SCREENING TESTS FOR US BIRTHS
Appendix B
GENERIC COPY OF CALIFORNIA DEPARTMENT OF PUBLIC HEALTH’S “CEASE-AND-DESIST” LETTER SENT TO 13 GENETIC TESTING COMPANIES
Appendix C
SELECTED COMPANY PROFILES
23andMe
Management Summary and Board of Directors
Company Vision and Mission
Genetic Testing Services
BioMarker Pharmaceuticals 
Company Description
Products and Services
Dietary Supplement Products
Management Team
Board of Directors
Scientific Advisory Board
Technology Platforms
Consumer Genetics
Company Description and Mission
Management
CyGene Direct (CyGene Laboratories)
Background and Description
Mission and Vision
Products and Services Offered (since 2006)
Management
Technology Developments
Alliances
Scientific Advisory Board
Financial Summary
deCODE genetics
Company Description
Recent Scientific Developments
Financial Summary
DNA Direct
Company Description
Mission
Business Model
Company Standards and Criteria for Offered Tests
The Test Purchasing Process
Privacy and Security
Investors
Management
Services Offered
Other Company Initiatives
Board of Directors
Medical Advisors
Genelex Corporation
Company Description
Company Mission
Products and Services
Awards and Recognition
Company Licenses
Management
Other Products Offered
Knome
Company Description
Partnerships
Management and Advisors
Technology
Products and Services
LabCorp
Company Description
Management Team
Board of Directors
Genetic Testing Capabilities
LifeCode
Company Description
Navigenics
Company Background
Management
Mission and Vision
Genetic Testing Services
Other Information
Navigenics’ Clinical Advisory Board
Navigenics’ Scientific Advisory Board
Navigenics’ Genetics Counseling Task Force
Navigenics’ Policy and Ethics Task Force
Sciona
Company Description
Investors
Products and Services
Management
Technology
Board of Directors
Scientific and Business Advisory Board
Current Research Collaborations
SeqWright
Company Description
Mission
Products and Services
Overview of Genomic Profiling Service
Professional Staff
Scientific Advisory Board
Regulatory Compliance
Smart Genetics
Company Description
Mission
Management Team
Board of Trustees
Expert Advisors
Product Offerings
Suracell
Company Description
Management and Advisory Team
Product Lines
Partnerships
Financial Summary
References
Company Index with Web Addresses