As interest in personalized health grows, people are looking beyond traditional wellness trends to genomics for clinically actionable insights. Two areas stand out for diagnostic laboratories: pharmacogenomics (PGx) to optimize medication decisions, and rare disease genomics to shorten diagnostic odysseys. The public is increasingly receptive, and the market is expanding rapidly, which creates a strategic opportunity for labs positioned with the right technology and interpretation capabilities.
Genetic testing awareness in the United States has surged. According to this article in Frontiers, about 75% of U.S. adults know of genetic testing, and roughly 19% have undergone a test themselves, largely due to direct-to-consumer (DTC) offerings. In PGx specifically, although only 6.6% of U.S. adults have had pharmacogenetic testing, an estimated 32.2% (around 79 million adults) want PGx testing. indicating substantial latent demand, according to this article.
Clinical and Consumer Trends in Pharmacogenomics and Rare Disease Testing
Pharmacogenomics
The pharmacogenomics sector is expanding as clinical integration and public support increase. Surveys show high public acceptance of PGx testing to tailor medication use, and national initiatives such as pilot programs to integrate PGx into healthcare systems are underway in multiple countries (Straits Research).
Rare Disease Genomic Testing
The rare disease genetic testing market is forecast to grow from about $1.1 billion in 2024 to over $2.5 billion by 2030, at a compound annual growth rate (CAGR) of ~15%, driven by next-generation sequencing (NGS) adoption and broader clinical use. Rare diseases affect an estimated 2–6% of the global population, and the majority have a genetic basis (Nature).
How Labs Can Capture Market Opportunity
To meet public demand and clinician expectations, laboratories must go beyond offering tests to delivering high-confidence, clinically actionable genomic interpretation:
- Pharmacogenomics Beyond Limited Panels: The field is moving beyond PGx panels and arrays to whole genomes, especially using PacBio or ONT long read sequencing with special handling to resolve homology between CYP2D6/7 which drastically increases the diagnostic yield.
- Rare Disease Genomics: Offering tiered sequencing (from targeted panels to exomes/genomes) with comprehensive variant interpretation allows labs to serve a broad clinical case mix and reduce diagnostic delays.
As genomic testing moves from niche to mainstream, laboratories require platforms like VarSeq which enable labs to efficiently manage increasing test volumes and complexity. Maintaining clinical reliability and profitability in both pharmacogenomics and rare disease diagnostics requires systems that can reliably:
- Integrate multiple variant types (SNVs, indels, CNVs, repeats) within a unified analysis framework,
- Scale robust interpretation workflows with transparent, rule-based logic,
- Deliver consistent, auditable clinical results suitable for diverse test menus,
- Reduce time and overhead via automation while maximizing diagnostic confidence.
In 2026 and beyond, laboratories that align with public demand and leverage advanced analysis platforms like VarSeq will be poised to leverage consumer interest in genomic testing and deliver meaningful personal genomic insights. If these strategies align with your lab’s goals for the year, please reach out to us at [email protected].
