Research Methodology – Rare Disease Genetic Testing Market
At Straits Research, we adopt a rigorous 360° research approach that integrates both primary and secondary research methodologies. This ensures accuracy, reliability, and actionable insights for stakeholders. Our methodology for the Rare Disease Genetic Testing Market comprises the following key stages:
Market Indicator & Macro-Factor Analysis
Our baseline thesis for the Rare Disease Genetic Testing Market is developed by integrating key market indicators and macroeconomic variables. These include:
Factors considered while calculating market size and share
- Population prevalence of diseases being tested for
- Availability of genetic testing facilities
- Technological developments in genetic testing
- Regulatory policies and government support
- Levels of public awareness of genetic testing
- Pricing strategies and insurance coverage for tests
- Investment in research and development for new tests
- Competitive landscape of service providers
Key Market Indicators
- Trends in healthcare expenditure
- Developments in personalized medicine
- Growth rates of rare disease diagnostic firms
- Number and results of clinical trials involving genetic testing
- Patient adoption rates of genetic testing
- Market penetration rates of genetic tests
- Rate of technological advancements in genetic testing
Growth Trends
- Rampant advancements in genomics and personalized medicine
- Increase in public awareness and easy availability of genetic testing
- Rising prevalence of rare diseases and genetic disorders
- Increasing investments in research and development activities
- Growth of direct-to-consumer genetic testing market
- Improvement in regulatory framework supporting companion diagnostics
Secondary Research
Our secondary research forms the foundation of market understanding and scope definition. We collect and analyze information from multiple reliable sources to map the overall ecosystem of the Rare Disease Genetic Testing Market. Key inputs include:
- Annual reports, investor presentations, SEC filings
- Company press releases and product launch announcements
- Public executive interviews and earnings calls
- Strategy briefings and M&A updates
- Country-level industry associations and trade bodies
- Government dossiers, policy frameworks, and official releases
- Whitepapers, working papers, and public R&D initiatives
- Relevant Associations for the Rare Disease Genetic Testing Market
- Broker reports and financial analyst coverage
- Paid databases (Hoovers, Factiva, Refinitiv, Reuters, Statista, etc.)
- Import/export trade data and tariff databases
- Sector-specific journals, magazines, and news portals
- Global macroeconomic indicators and their cascading effect on the industry
- Demand–supply outlook and value chain analysis
- Consumer behaviour, adoption rates, and commercialization trends
Primary Research
To validate and enrich our secondary findings, we conduct extensive primary research with industry stakeholders across the value chain. This ensures we capture both qualitative insights and quantitative validation. Our primary research includes:
- Key Opinion Leader (KOL) Engagements
- Structured interviews with executives, product managers, and domain experts
- Paid and barter-based interviews across manufacturers, distributors, and end-users
- Discussions with stakeholders to validate demand-supply gaps
- Group discussions on emerging technologies, regulatory shifts, and adoption barriers
- Cross-verification of market sizing and forecasts with industry insiders
- Capturing business perspectives on growth opportunities and restraints
Data Triangulation & Forecasting
The final step of our research involves data triangulation ensuring accuracy through cross-verification of:
- Demand-side analysis (consumption patterns, adoption trends, customer spending)
- Supply-side analysis (production, capacity, distribution, and market availability)
- Macroeconomic & microeconomic impact factors
- Time-series analysis
- Regression and correlation studies
- Baseline modeling
- Expert validation at each stage
Outcome
The outcome is a comprehensive and validated market model that captures:
- Market sizing (historical, current, forecast)
- Growth drivers and restraints
- Opportunity mapping and investment hotspots
- Competitive positioning and strategic insights
Available for purchase with detailed segment data, forecasts, and regional insights.
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