Looking Back on a Landmark Year for Precision Medicine

Nearly twenty years after the human genome was first sequenced, advances in genomics research have grown by leaps and bounds. Aided in part by the shrinking costs of sequencing technologies, analysing the mysteries of the human genome has never been cheaper—and more accessible. And as more countries kickstart their own genomic sequencing initiatives, a new paradigm has emerged: precision medicine, which accounts for the influence of genetics, environment and lifestyle on populations and individuals.

It’s no wonder then that 2021 has seen numerous genomics and precision medicine initiatives come into the fore. Here’s a recap of some of the most significant developments in the field in the past year.

1. Singaporean genomes in the spotlight

Despite its small size, Singapore is home to a uniquely diverse genetic landscape thanks to the three ethnic groups—Chinese, Malay and Indian—on its sunny shores. With Asian populations historically underrepresented in genomic databases, the ethnically diverse city-state is well-poised to drive advances in genomics research and precision medicine.

Singapore has laid out a 10-year plan called the National Precision Medicine (NPM) Strategy . Phase I, which took place from 2017 to 2019, culminated in the  world’s largest genetic databank for multi-ethnic Asian populations. Earlier this year in April, Phase II was launched to glean further insights by analysing the genetic makeup of 100,000 healthy Singaporeans and some disease cohorts. Driven by Precision Health Research, Singapore (PRECISE), Phase II will also see the pilot implementation of precision medicine in clinical practices and focus on creating new economic opportunities that leverage new findings from genetic studies—transforming healthcare in the country for the better.

2. Predicting drug responses in Southeast Asian populations

In the precision medicine approach to therapeutic treatment, it’s all about delivering the right drug to the right patient at the right time. Regionally, researchers are striving to achieve this goal through efforts like the Southeast Asian Pharmacogenomics Research Network (SEAPharm), which aims to use sequencing to study pharmacogenomics, or how certain genes can affect the way a person reacts to drugs.

In 2021, SEAPharm published a study in Human Genome Variation that  sequenced 100 individuals from all over Southeast Asia to discover the pharmacogenetic variants present2. Notably, they found substantial variations at 100 genetic locations, contributing to differences in drug responses among populations within and between countries. While this study is only preliminary, further research may someday help local physicians prescribe drugs more likely to be effective in their respective populations.

3. Illuminating immunity across Asia

From the lush tropics of India to the mountains of South Korea, Asia is home to a dizzying array of stunning environments and unique wildlife. Despite the diversity of its 4.5 billion-strong population, the region’s population remains underrepresented in genomic studies.  Enter  AIDA (Asian Immune Diversity Atlas)3, which is set to be the first large-scale effort to characterise immune cell diversity in Asian populations. Using single-cell sequencing technologies, the project’s researchers will analyse the composition of immune cells in healthy individuals from 20 distinct populations in eight Asian countries, namely: Singapore, Japan, South Korea, India, Thailand, Russia, Pakistan and Sri Lanka.

Equipped with this data, the atlas will provide a baseline measurement of the immune system in health individuals—allowing the identification of abnormalities across diverse immune-related diseases, metabolic disorders and cancers. The project is funded by the Chan Zuckerberg Initiative grant, with similar atlases also in the works in Latin America and North America.

4. Rebuilding Tohoku’s genomic infrastructure

In March 2011, Japan’s northeast coast was jolted by the largest recorded earthquake in the country’s history: a magnitude-9.0 event that triggered a massive tsunami reaching up to 40 metres in height—flatlining buildings and impacting crucial structures like the Fukushima Daiichi reactors. Among those affected by the earthquake were medical databases and biobanks, resulting in the establishment of the Tohoku Medical Megabank Organization4.

Hosted by Tohoku University and headed by Executive Director Masayuki Yamamoto, the organization aims to rebuild the region’s community medical system through several initiatives, including assembling a biobank with medical and genome information. 2021 marked the start of the biobank project’s third stage and will focus on carrying out a long-term health survey in the areas impacted by the earthquake ten years prior, as well as the building up of a biobank with information from 150,000 individuals.

5. Diagnosing rare diseases with whole genome sequencing

For individuals with rare disease, diagnosis is often elusive—with years of unnecessary and costly tests building up to what is called a ‘diagnostic odyssey.’ However, recent results from the UK’s 100,000 Genomes Project indicate that whole genome sequencing (WGS) may soon turn the tide. According to the pilot study published this year in the New England Journal of Medicine, WGS led to diagnoses for 25 percent of around 2,000 participants thought to have a rare genetic condition5. Among this cohort, 14 percent would not have been diagnosed through conventional means like exome sequencing, which only looks at the genome’s protein-coding regions.

While the study revealed WGS’ potential to end the protracted diagnostic odyssey for some patients, it also underscored the complexity of genetics in disease. For instance, WGS provided diagnoses for 35 percent of cases when the condition was linked to just one gene. But for conditions rooted in multiple genes, only 11 percent of cases received a diagnosis. Still, it’s early days yet. The next phase of the project will involve the sequencing of 500,000 whole genomes in rare disease and cancer in healthcare.

Though many of these efforts may still be ongoing, they represent yet another fruitful period laying the groundwork for a scientific and healthcare system driven by precision medicine. In the years to come, it is clear that insights from these efforts will shape the way we approach health as well as detect, diagnose and manage disease for the better—so stay tuned!

References:

1. Singapore launches next phase of National Precision Medicine Programme [Online]. View here.

2. Runcharoen C, Fukunaga F, Sensorn I, et al. Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm). Hum Genome Var. 2021;8(1):7.

3. Asian Immune Diversity Atlas [Online]. https://chanzuckerberg.com/science/programs-resources/single-cell-biology/seednetworks/asian-immune-diversity-atlas/

4. Tohoku Medical Megabank Organization [Online]. https://www.megabank.tohoku.ac.jp/english/about/outline/

5. The 100,000 Genomes Project Pilot Investigators. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care—Preliminary Report. N Engl J Med. 2021;385:1868-1880.