Genetic Testing in Mainstream Medicine: Driving Precision, Prevention, and Population Health
Chandni Mansoori, Senior Research Analyst, Frost & Sullivan
Beyond rare disease diagnosis, the genetic testing is becoming a critical decision-making tool in the mainstream of medicine. This article will explore new opportunities to understand how genomic data is leveraged by healthcare systems to personalise treatment plans and stratify patient risk under oncology, cardiology, etc. Additionally, it will highlight how these genetic insights are integrated into EHRs to support strategies for predictive, preventive and population care settings.
Why Genetic Testing is Now Core to Precision Health
1. Value-Based Care Models Drive Demand for Predictive Tools
Healthcare systems globally are shifting toward value-based care, where reimbursement is tied to outcomes, not procedures. Genetic testing—particularly multigene panels and polygenic risk scores— is emerging as a high-impact enabler of early intervention and targeted prevention, reducing long-term costs and improving clinical outcomes.
2. Technological Maturity and Price Accessibility
Next-generation sequencing (NGS) costs have dropped over 90% in the past decade. Multigene panels are now widely available for less than $250, unlocking use in primary care, pediatrics, and population health initiatives.
3. Digital Health Convergence and EHR Integration
Genomics is increasingly embedded into digital health ecosystems. Interoperable platforms and decision-support tools now allow clinicians to act on genetic data at the point of care—driving clinical utility and workflow integration.
Genomics Goes Mainstream: A New Standard in Modern Healthcare
From Monogenic to Polygenic Conditions
Over the past 30 years the field industry of cancer genetics has evolved significantly, it has become less expensive and more comprehensive which has leads to changes in practice patterns. In 2013, with the advent of MGPT (multigene panel testing) using NGS (next-generation sequencing) instead of Sanger sequencing, genetic testing was able to cover a large number of genes at a lower cost, coupled with faster turnaround times. Now it is possible to cover 20-100 oncology genes with a single test, resulting in a 2-4 week turnaround time. The genetic testing widened its identifying application from single-gene mutations (e.g., BRCA1/2 for breast cancer) to assessing polygenic risk scores (PRS) for common conditions like mental health disorders, cardiovascular diseases, and diabetes. This shift will allow genomics to reach millions of individuals who do not show traditional risk factors but may carry genetic predispositions to complex diseases.
Pharmacogenomics: Optimising Drug Response and Treatment
In pharmacogenomics genetic testing plays a crucial role as it is moving beyond one-size-fits-all model by tailoring treatments to the genetic profile of individual patients, ensuring optimal efficacy. Healthcare providers are using genetic testing to fine tune drug dosages for each patient to avoid overdosing and underdosing. Genetic testing also helps determine how each patient metabolize drugs based on genetic variation in enzymes such as CYP2C19 and CYP2D6. The genetic variation in CYP2C19 enzyme affects how well the patients metabolizes blood thinners such as clopidogrel. Cardiologist by using these genetic variations can select the alternative treatments or adjust the dosages which reduces the high risk of heart strokes and attacks.
By enabling targeted therapies, pharmacogenomics is revolutionising cancer care; unlike traditional chemotherapy, these targeted treatments focus on very specific genetic mutations within tumors. For instance, in lung cancer patients, EGFR mutations can predict the drug effectiveness of gefitinib, which assists doctors in deciding the best course of action.
Also, patients who are on anticoagulants such as warfarin can experience risky side effects if the drug does not metabolise properly. Variants in the VKORC1 and CYP2C9 genes influence the body's response to warfarin, in which genetic testing helps personalise the dose to reduce bleeding and clotting risks.
The Future of Pharmacogenomics: Overcoming Barriers
The widespread adoption of pharmacogenomics still faces challenges despite its groundbreaking potential, one of which is its cost. While in recent years the cost has reduced significantly, it will still be a barrier for many patients in regions where health insurance does not cover these services.
Also, to leverage the power of pharmacogenomics fully, healthcare systems must integrate EHRs with genetic information. This is a complex process which requires high standardisation of genetic data and collaboration with IT systems, coupled with mindful handling of patients' privacy concerns. Hence, to expand pharmacogenomics in routine clinical care, industry players are focusing on expanding their reach, data security, and affordability across regions.
Growth Opportunity: Integrated PGx dashboards within EHRs can drive broad-scale clinical adoption and payer support.
Therapeutic Use Cases Gaining Momentum
Oncology – The Epicenter of Clinical Genomics
- Targeted Therapy and Companion Diagnostics
Oncology is leading the way to utilize genetic testing insights in the clinical decision-making process. Germline genetic testing and tumor sequencing now not only confirm prognosis but also play a crucial role in therapy selection and clinical trial eligibility. For instance, in NSCLC (non-small cell lung cancer), EGFR mutations guide the use of tyrosine kinase inhibitors; in breast cancer, the use of trastuzumab is influenced by HER2 amplification; and treatment strategies for colorectal cancer are affected by KRAS, NRAS, and BRAF mutations. - The integral role of genetic testing in oncology is underscored by the FDA, which has approved over 50 companion diagnostics, many of which are genetic-based. The industry is expected to see lucrative growth in this sector in the upcoming years.
- Liquid Biopsy and NGS Panels
Non-invasive emerging tools like liquid biopsy detecting ctDNA (circulating tumor DNA) enable tumor profiling, early recurrence detection, and disease monitoring. In recent years, it has gained significant interest in the industry. NGS combined with liquid biopsy offers comprehensive mutational analysis and enables tumor-agnostic therapies, leading to the routine ordering of genetic panels covering 50–500 genes for advanced cancer patients, setting the foundation of precision oncology workflows. - The convergence of NGS in liquid biopsy has enhanced its capability by detecting a wide set of alterations in genes like insertions/deletions, gene fusions, and single nucleotide variants amidst multiple cancer-related genes simultaneously. Studies have showcased that NGS-based liquid biopsies highlight a high correlation with tissue-based tests in advanced cancers, offering prognostic and diagnostic value while enabling more personalised and adaptive strategies for treatment.
Growth Opportunity: Cross-licensing with pharma companies and value-based genomic testing platforms will define differentiation.
Cardiology – An Underrecognised Genomic Frontier
While genetic testing dominates oncology applications, the cardiology segment is also rapidly catching up. In cardiology, genetic testing helps guide interventions for FH (familial hypercholesterolemia), detection of inherited conditions, and differentiates sudden cardiac deaths. Also, it helps support early diagnosis and guides ICD (implantable cardioverter-defibrillator) decisions by identifying MYBPC3 or MYH7 mutations. Genetic test results in cardiology also influence medication avoidance (QT-prolonging drugs) and lifestyle modifications.
Polygenic Risk Scores in Cardiology
Ongoing genetic research from the past decades has highlighted that our risk for various common conditions like diabetes and heart disease is not only influenced by one gene, or even a handful of them. Multiple genes work together, each with very small effects of genetic alterations, leading to a person’s proneness to CAD (coronary artery disease). The PRS (polygenic risk score) results add up the effects of various genes to estimate the high or average risk of developing CAD in a person. PRS is emerging as a risk stratification tool in CAD; for instance, even in the absence of traditional risk factors, individuals with high PRS can benefit from earlier statin therapy. Also, studies such as FinnGen and UK Biobank highlight evidence that PRS integration into routine cardiac risk calculators can transform preventive cardiology.
Growth Opportunity: AI-driven PRS algorithms embedded in EHRs could define the next frontier of cardiology risk management.
What’s Making Widespread Adoption Possible?
EHR Integration – Enabling Actionable Genomics
With the integration of genomic data into EHRs (Electronic Health Records), modern healthcare is undergoing a transformative shift from a traditional, protocol-based approach to precision medicine. To leverage genomic data, it must be easily accessible in EHRs to enable CDS systems (clinical decision support systems) to mark drug-gene interactions, suggest monitoring guidelines, and recommend genetic counselling services.
To enable organised storage of genetic variants, initiate automated notifications for actionable findings, and strengthen clinical collaborations via tools like tumor boards and genetic counselling integration, leading industry EHR platforms like Epic, Cerner, and MEDITECH are progressively adopting genomic modules.
Ongoing initiatives such as the eMERGE Network are facilitating this by integrating EHRs with genomic data to advance large-scale analytics and research. Looking forward, the evolution of “genomic-ready” EHRs, which can manage complex variant data and bridge with external knowledge bases such as ClinVar, PharmGKB, or OncoKB, will be crucial to delivering proactive, personalised care across a patient’s lifetime.
From Insight to Action: Genomic Strategies Powering Predictive and Preventive Care
The genetic testing industry is witnessing a shift from treatment to prevention, with predictive genomics now allowing users to take informed health options, enabling early disease detection, and taking steps that are proactive and lead to a healthier and longer life.
In early disease detection, predictive genomics plays a critical role by identifying risk associated with genes like APOE4 related to Alzheimer’s and BRCA1/2 for breast and ovarian cancer, which helps in timely screening and preventive actions.
Also, genetic testing in families with hereditary disease histories like sickle cell anemia, Huntington’s, and cystic fibrosis helps identify if a person carries related mutations, enabling long-term care and family planning. It informs preventive screenings, treatment, and medications like suggesting statins for those who are at high heart disease risk or fostering lifestyle changes such as quitting smoking.
The Government of India, with their Genomic India project, highlights how genomic sequencing enables scientists to map population-specific genetic variants on a national scale. This approach will make genetic testing more accessible and cost-effective and also boost clinical applications, accelerating the transition towards preventive and predictive medicine on a broader scale.
Reimbursement Evolution
Reimbursement parity with other diagnostics is essential. Positive movements from CMS and private payers in oncology and pharmacogenomics are encouraging broader test coverage.
Actionable Intelligence for Healthcare
| Stakeholder | Key Actions |
| Healthcare Providers | Invest in EHR-genomic integration, train clinicians in interpretation, and participate in population genomics programs. |
| Diagnostic Companies | Focus on bundled testing solutions with decision support; build payer engagement strategies to support reimbursement. |
| Pharma | Expand companion diagnostics partnerships; integrate genomic biomarkers in clinical trial design. |
| Payers | Evaluate real-world data to update coverage policies; align reimbursement with evidence-based genomic use cases. |
Outlook: Preparing for a Genomics-Driven Future
Genetic testing is at a pivotal inflection point. No longer confined to rare disease diagnosis, it is enabling the shift toward predictive, preventive, and personalised medicine. Early movers who align with this trajectory—through platform development, payer partnerships, and clinical integration—can unlock significant growth, particularly in the next five years.
Its integration with EHRs, helping clinicians with data interpretation, coupled with policy alignment, will ensure equitable access, which helps players unlock its full potential to drive market growth of preventive, predictive, and personalised care.
Hospitals and healthcare organisations that integrate genomic data into their digital infrastructure and care models will be better positioned to improve outcomes, reduce costs, and enhance patient satisfaction. Also, its journey from rare disease diagnostics to routine clinical genomics is transforming the industry landscape; it is becoming an emerging reality. With its implementation in healthcare systems, genetic testing will become not just a test, but a cornerstone of care for millions.
References:
- https://pmc.ncbi.nlm.nih.gov/articles/PMC11006441/
- https://pmc.ncbi.nlm.nih.gov/articles/PMC10176082/
- https://mapmygenome.in/blogs/learn/how-genetic-testing-is-revolutionizing-preventive- healthcare
- https://www.downtoearth.org.in/health/genome-sequencing-data-to-help-in-predictive- and-preventive-medicine
- https://pubmed.ncbi.nlm.nih.gov/39449891/
- https://academic.oup.com/eurheartj/article/46/15/1372/8001983
- https://www.nature.com/articles/s41598-025-88094-1#Sec9
- https://binariks.com/blog/how-to-integrate-an-ehr-system-like-epic-cerner-or-meditech/
- https://www.nature.com/articles/s41525-025-00461-z
- https://pubmed.ncbi.nlm.nih.gov/40371326/
Chandni Mansoori is a Senior Research Analyst at Frost & Sullivan with 8 years of experience in the healthcare and life sciences industry. She is a results-driven consultant specialising in competitive intelligence, opportunity and technology assessment, client engagement, M&A analysis, clinical trial and pipeline tracking, new drug launches, patent expiry assessments, and process improvement initiatives.
