Research in the Real World: Taking Precision Medicine to Patients

Building on a Strong Foundation

The journey began with Phase 1, a proof of concept stage that delivered Southeast Asia’s first large-scale genetic reference panel. This was more than just a research achievement; it established the foundational datasets, sequencing expertise, and governance frameworks necessary to conduct precision medicine responsibly. 

Phase II upped the ante on complexity, not only analysing the genetic information of 100,000 individuals but integrating that data with non-genetic information like electronic health records, lifestyle information, and environmental factors. It was a deliberate step toward reflecting the multifaceted nature of human health, where genes interact with life experiences and clinical histories.

One key way Phase II put precision medicine into practice was through a suite of clinical implementation pilots (CIPs), spanning familial hypercholesterolemia, breast cancer screening, hereditary cancers, kidney disease, and pharmacogenetics. In parallel, Phase II also saw the launch of a research consortium with multinational pharmaceutical companies including Illumina and Boehringer Ingelheim, leveraging the PRECISE-SG100K dataset to drive drug discovery, validate biomarkers and develop therapies tailored to Asian populations.

As a proof of scale, Phase III is even more ambitious. Rather than focusing on healthy cohorts, it aims to capture the lived realities of patients within healthcare settings. This shift reflects the central ambition: not simply to generate knowledge, but to transform how healthcare is delivered-more targeted, more cost-effective, and ultimately more impactful.

From Discovery to Delivery

The defining feature of Phase III is the quest to understanding patients, not just healthy individuals. With a target of enrolling about 10% of Singapore’s population, this phase also dramatically expands the scale. This scale matters: it allows researchers to detect rare variants, capture greater diversity, and generate the statistical power required to translate findings into clinical certainty. For patients, this could eventually mean earlier diagnoses, more accurate treatment choices, and interventions that are targeted to their risk profile rather than a one-size-fits-all standard of care.

But scale is only part of the story. By focusing on patients, Phase III places precision medicine squarely in the real world-where comorbidities, cost pressures, and clinical decision-making come into play. This requires moving beyond the walls of research institutes to partner directly with hospitals, clinics, and primary care providers across all of Singapore’s three healthcare clusters: NHG Health, National University Health System (NUHS) and Singapore Health Services (SingHealth).

“Singapore is realising the potential of genomics with strategy and scale—a strong public mandate, world-class infrastructure and the willingness to commit long-term,” says Tiffany Boughtwood, the Australian Health Genomics Commissioner. She guides the work of Genomics Australia, the country’s nationwide effort to better integrate genomics into the health system. “Genomics in Singapore is poised to transition beyond research to a tool embedded across clinical service delivery.”

This phase of the NPM arrives at a critical policy juncture as Singapore makes the monumental shift from reactive to preventative healthcare. Confronted by a rapidly aging population and the rising burden of chronic diseases, Singapore is in the midst of a bold reimagining of how healthcare can be delivered both sustainably and at the high quality its citizens have come to expect. 

The government has launched several initiatives to empower Singaporeans to manage their own health, supported by affordable screenings and vaccinations under the guidance of family doctors. Phase III of the NPM powerfully complements this agenda, not by replacing population-level interventions but ensuring that they are targeted more effectively. Precision insights could, for example, identify which individuals would benefit most from early screening for cancer or cardiovascular disease, allowing limited healthcare resources to be deployed where they have the greatest impact.

Local Data, Global Impact

While firmly focused on serving the local population, Phase III will also have an impact that extends far beyond Singapore. By complementing global efforts with high quality data from underrepresented Asian populations, Phase III will help improve equity and enhance the accuracy of global datasets while validating findings in the Singaporean population. More accurate data means more accurate diagnoses and treatments, not only for Singaporeans but for populations across Asia and the world.

“What excites me is Singapore’s ability to show the world how to do this responsibly at scale-building the standards, policies, and trust that make genomics part of everyday care,” says Dame Sue Hill Professor, Chief Scientific Officer of the National Health Service (NHS) England. “The big bet now is on creating an integrated system that combines patient genomic data with relevant clinical and diagnostic data in near real time, allowing discoveries to directly benefit patient care.”

However, connecting the dots between millions of data points for a single individual-and then scaling that up for 450,000 participants-is the critical challenge of Phase III. It calls for the linking of different kinds of data-from strings of genetic data to survey responses and diagnostic images-each an illuminating dataset on its own but made more powerful when combined. The task is not only technical but also organisational, demanding interoperability across healthcare systems, rigorous privacy safeguards through secure data architectures, and analytical pipelines that can surface clinically relevant insights from the noise. 

While the journey ahead is daunting and success is not guaranteed, past efforts put Singapore in a favourable position to tackle this challenge head on. “If there’s any country in the world that can do it, it’s Singapore,” says Professor Aarno Palotie, scientific director of FinnGen, a public-private partnership that combines lifelong heath data and genomic data in Finland and a founding member of PRECISE's scientific advisory board. Singapore shows the world that to make precision medicine truly count, you must invest not just in genomics, but in systems that ensure it is equitable, sustainable and ethically robust.”