Linked clinico-genomic real-world data across stakeholders can lead to significant benefits in Public Health

The shift toward value-based healthcare is accelerating the development and adoption of precision medicine powered by genomics. Genomics has enabled a shift from the traditional one-size-fits-all models to personalized care. This has led to building a strong economic case to integrate precision medicine and genomics into primary care in some countries^i,iiespecially in the context of preventive and predictive health strategies. We have every reason to believe that this transformation will eventually take place across geographies. Although the timeline will depend on the country’s proactiveness and maturity of the healthcare system in implementing genomic medicine^iii,iv. Regardless of pace, the need for real-world data – of both individuals and patients will remain central to driving this revolution forward.

Real-world data includes over hundreds of variables, including genomic variables derived from next-generation sequencing (NGS) such as variant type, haplotype mapping etc. When genomic variables are thoughtfully linked with other clinical variables, researchers are able to gain better understanding of the benefits and risks to both an individual’s and patient’s health at various levels. Researchers here broadly refer to the stakeholders within the healthcare ecosystems such as academicians, clinicians, data scientists, policymakers, and industry experts who leverage linked data driven analysis to inform decision-making and improve outcome from secondary research. These outputs are then used as evidence to make decisions for pricing, access, policies and others.

Figure1: Uses of linked (clinico-genomic) data by stakeholders

Challenges of linking data within India are not entirely unique and mirror other countries:

Currently in India, genomic data derived from third generation NGS is broadly gathered mainly in four different settings that can be segmented at a high level according to their funding status and activities as shown in Figure 2.

Figure 2: High level segmentation of stakeholders that generate genomic data using third generation NGS stakeholders

While several healthcare settings have been discussed, only a few currently offer the capability to link genomic and clinical data - typically those equipped with in-house or exclusively partner with clinical molecular pathology laboratories that conduct diagnostic testing for oncology, rare diseases, and genetic disorders.

In India, patients themselves are emerging as valuable sources of linked longitudinal health data. Recognizing its potential, some Micro, Small, and Medium Enterprises (MSMEs) have developed digital platforms and mobile applications to collect consented, multimodal patient information. These tools aim to structure and harmonize data for analysis and to train AI models that assist healthcare professionals, such as oncologists, in making informed clinical decisions.

Additionally, individuals are increasingly taking control of their health data by consenting to share biological samples like their own or their newborn’s cord blood with biobanks, or by opting for whole genome sequencing through Direct-to-Consumer Genetic and Genomic Testing (DTC-GT) companies. These companies gather and link genomic and basic clinical data for internal research and analysis.

However, this represents a relatively small patient cohort in a country with a population of 1.46 billion where leading cause of death and disability in India such as cardiovascular diseases (CVD) and others are not adequately represented^v,vi. Retrospective clinical records have the potential to bridge data gaps across disease areas besides cancer, rare and genetic diseases. However, healthcare institutions could face several challenges in obtaining patient consent for the use of historical data in secondary research. The absence of a single patient ID leads to fragmented records across multiple providers, further complicating the situation. Updates in policy reforms that enable the ethical use and linkage of retrospective data aimed at enhancing not only individual patient care, but also broader public health outcomes are urgently needed. This assumes that data in hospitals and clinics exists in digitalized formats. The government’s Ayushman Bharat Digital Mission (ABDM) aims to develop the backbone necessary to support integrated digital health infrastructure, but adoption has been limited^vii. This has led to delays in downstream activities such as transformation, harmonization (also with international standards), curation and analysis and insight generation among others.

On a national scale, the publicly funded GenomeIndia initiative represents a valuable resource of linked clinic-genomic data, comprising of 10,000 whole genome sequences from healthy Indian individuals, along with associated clinical metadata^viii. Access is currently restricted to select academic researchers and is expected to be extended to the broader research community in the near future.

In summary, linkable patient data in India is - confined to specific settings, reflective of a small or specific cohort, may not be digitized or may not be easily accessible and thus not linkable -inhibiting innovative patient centric solutions.

Insights from the best international practices highlight a strong preference for public-private partnerships (PPPs) with IQVIA playing a pivotal role in some of these collaborations

Based on our analysis of active global genomic initiatives, we observe a gradual increase in sequencing activities that link genomic data to high-quality, regulatory-grade clinical data. However, this progress remains slow across countries and appears to stem from challenges similar to those faced in India. No single setting can address all these hurdles alone, and a coordinated effort is essential. Realizing the bottlenecks discussed above, there has been a noticeable shift towards Public-Private Partnerships (PPPs), aimed at unlocking the full potential of health data for societal benefit^ix.

We, at IQVIA, believe that such collaborations will be central to the future of ‘end-to-end’ solutions in healthcare. By working together, we can increase standardization, minimize redundant sequencing, and reduce the need for confirmatory re-testing. Various labs, governments, biopharma companies and national genome programs including Genomics England^x, National Genome Center in Denmark^xi  and others across 15 geographies share our belief and have actively collaborated with us, utilizing our experience in regulatory affairs across geographies, conducting clinical trials, analyzing real world data, and delivering complementary Technology and AI solutions^xii.

Figure 3: Genomic data used cases across health ecosystems

IQVIA is committed to contributing meaningfully to India’s evolving genomics and precision medicine landscape. We seek like-minded partners to connect with us and our ecosystem to support data digitization, harmonization, and to link clinico-genomic real-world data for analytics, clinical decision support and reporting. By connecting intelligence, technology, and global experience, we aim to strengthen these efforts and help unlock the full potential of health data in India for improved outcomes.

Figure 4: IQVIA’s portfolio of solutions in Genomics and Precision Medicine

For more information on our products, services and experience in India, please contact us here.

References:

ⁱ https://www.england.nhs.uk/long-read/accelerating-genomic-medicine-in-the-nhs/

ⁱⁱ https://www.nhlbi.nih.gov/grants-and-training/funding-opportunities-and-contacts/precision-medicine-activities#:~:text=Considers%20the%20unique%20genes%20and,%2C%20metabolomic)%20and%20phenotypic%20data.

ⁱⁱⁱ https://zenodo.org/records/6587561

^iv https://framework.onemilliongenomes.eu/genomics-into-healthcare

^v https://www.pib.gov.in/PressNoteDetails.aspx?NoteId=151925&ModuleId=3

^vi https://www.thelancet.com/journals/lansea/article/PIIS2772-3682(23)00016-1/fulltext

^vii https://abdm.gov.in/abdm

^viii https://genomeindia.in/

^ix iqvia.com/-/media/iqvia/pdfs/library/white-papers/2025/the-evolving-global-landscape-of-genomic-initiatives.pdf 

^x https://www.iqvia.com/newsroom/2018/10/iqvia-and-genomics-england-launch-the-first-real-world-research-platform-with-integrated-clinical-an 

^xi https://www.iqvia.com/locations/nordics/newsroom/2021/10/iqvia-and-sapio-sciences-to-provide-laboratory-system-to-national-genome-center-denmark 

^xii https://www.genomicsengland.co.uk/news/iqvia-and-genomics-england-launch-research-platform