This document discusses key trends, barriers, and opportunities in translational medicine and precision medicine. Key trends include fewer blockbuster drugs, increasing use of electronic health records, and decreasing costs of genome sequencing. Barriers include the lack of curated disease databases, difficulty integrating clinical and bioinformatics data, and lack of physician knowledge. Opportunities exist in clinical decision support, variant analysis and interpretation software, and using genome sequencing to guide treatment. The document outlines assessing this market through understanding requirements, competitors, and developing go-to-market strategies.

1. TRANSLATIONAL
MEDICINE
Opportunity and Landscape Assessment
Overview for Information Businesses

2. Key Trends Favor Precision Medicine
• In pharma…
• Fewer Blockbusters in pharmaceutical pipelines
• Patent expiries
• Generic competition
• Desire for targeted clinical trials and companion diagnostics
• In healthcare…
• Increasing use of Electronic Health Records
• Increasing emphasis on Accountable Care Organization Model versus
Fee-for-service
• In technology…
• Rapidly decreasing cost of sequencing a patient
• Increasing access and acceptance of “big data analytics” and cloud
computing models

3. Barriers to Precision Medicine
• No curated, evidence based database of medically actionable
variants
• Lack of integration between clinical LIS and bioinformatics
pipelines (content, integration, interpretation)
• Lack of Physician knowledge:
• What test?
• How to interpret results?
• How to design treatment options?
• How to convey information to the clinician and/or patient?
• Methods and databases to connect treatments to outcomes
• Will have to demonstrate cost-savings for reimbursement
models
• Does the test avoid other tests or in-effective therapies, or improve the
health of a population?

4. Technology Driver: Low Cost Sequencing
Clinic or Send- Clinic or Send- Clinical
Clinic Clinic
out out Research
• Sequencing • Sequence • Variant • Clinical • Pathway
• Instruments Analysis Management Decision Knowledge
• Manage • Assemble and Clinical Support Management
samples and Analyze Interpretation • Diagnose • Explore
• Generate • Interpret and Treat new
data and Report patients treatment
on Variants options
Variant Archive: Validation, Evidence, Treatment
Workflow: Software and Services For Each Patient
Variant archive: Data Infrastructure Component

5. Software landscape of opportunity
Clinical
Genomics and Reporting /
Bioinformatics Variant
Management
Healthcare
EHR / LIS Decision
Vendors Support
Informatics

6. Market Assessment Capabilities:
• Phase I: Market Segmentation and Landscape
• Market requirements analysis: Key customer pain point, unmet need, and
willingness to pay
• Phase II: Product Strategy Development
• Key competitors, strengths and weaknesses; positioning
• Build-versus-buy assessment
• Suitability for business
• Risks, opportunities, and threats
• Timeline to maturity and assumptions you would need to believe to achieve the
market opportunity
• Phase III: Go-To Market
• Acquisitions: Financial modeling, due diligence, strategic counsel
• Product: Sales model, training, and feedback
• Methods:
• Customers and prospects
• Industry: Major sequencing vendors, CRO’s, medical specialties, etc.
• Internet search, social media, and surveys, as-needed.
• Function as a member of your team in packaging and delivering ideas to
management