Precision medicine is transforming the way we think about health and healthcare. In particular, it is changing how we think about individuals and populations. The dream of precision medicine is simple: we move away from a ‘one-size-fits-all’ approach and towards personalised treatments designed to work for us as individuals. Our path towards this has raised two major questions:

  • Is precision medicine for all, or just the affluent?
  • Is precision medicine just for Caucasians of European descent?

When many first encounter the concept of “precision medicine” they wonder: will precision medicine require patients to seek out physicians outside their insurance coverage, require expensive, out-of-pocket testing and mean combating disease with unique formulations that are incompatible with current available treatment models?

While the methods may be new, they are not entirely unavailable and certainly worth the initial investment of time and resources when it comes to overall healthcare management cost. However, the argument that the opportunities of precision medicine are more accessible to the affluent can’t go ignored. With technologies being branded more affordable, their price tags still don’t seem to budge, with the every-day person still struggling to access treatments.

Much of the work being done across the globe through national scale genomics projects are aimed at transforming healthcare at an organisational level. This absolutely includes building clinical utility evidence, and business cases to ensure payers see the value in supporting new diagnostic tests that will be the building blocks of precision medicine. While it may not fix the steep costs of healthcare in many parts of the world, it should ensure equal access and availability.

https://www.precisiondatasig.com/

The second issue is one that received considerable attention in October of 2016 with the publication of Popejoy and Fullerton’s paper in Nature. Further papers added to the growing evidence that our biggest genetic databases were heavily weighted towards Caucasians of European descent. That’s a major problem. It shows that some ethnic groups have poor access to genetic testing. That in itself is a concern that needs attention as it could threaten the success of precision medicine. Most of the world’s most affluent cities have a very cosmopolitan population. Without representative data and studies across all ethnic groups, you can’t hope to integrate precision medicine successfully. There is already evidence that mutations present themselves differently in distinct ethnic groups, and that disease rates and genes behind them vary across ethnicity. Again, the proliferation of nationwide genome projects is quickly addressing this imbalance.

Asia Pacific countries are a good example of this opportunity. Despite representing over 40% of the global population, Asians are vastly underrepresented in genetic databases contributing around 1%. For this region, and China in particular, the relative size of the market and the obvious gap has resulted in recent increased investment. In 2016, China announced precision medicine as part of its five year plan, promising investments of more than $9 billion for research.

As a result, China-based BGI and Novogene are now offering NGS services. WuXi NextCODE, with offices in Shanghai, the U.S. and Iceland, is providing molecular interpretation services. Boston-based FDNA is using next-generation phenotyping (NGP) technologies throughout the region to help clinicians, labs and researchers better understand the relationship between human genetics and disease. This shows there is already great internal drive and momentum from within the region. There is also increased attention and commitment from around the world to recognise the need and opportunity in Asia.

FDNA, who through their clinical suite, Face2Gene have already managed to find correlations between phenotypes and biometrics for over 10,000 diseases, in 130 countries, saw the Asia Pacific as a real opportunity. They recently announced a joint commitment with the Asia-Pacific Society of Human Genetics (APSHG), to enhance their technology by training it to recognise phenotypes for all Asia-Pacific ethnicities. As part of its commitment, APSHG hosted a meeting this past fall at the annual APSHG conference in Bangkok, Thailand, together with FDNA and leading experts in genetics from multiple countries in this region to plan a roadmap for advancing precision medicine in this region. Such work aligns itself with FDNA’s core mission within the genomics field. Their app uses facial analysis, deep learning and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. They sit amongst an impressive list of other companies working to increase data within the area.

“Disease comes in all shapes, sizes and ethnicities,” says Dekel Gelbman, CEO of FDNA. FDNA’s flagship application, Face2Gene uses NGP technologies, such as facial analysis to help clinicians diagnose thousands of diseases through highlighting individuals’ genetic variations that are correlated to diseases. The technology is already helping clinicians to correctly diagnose patients all over the world, including at around 500 clinical institutions in Asia-Pacific countries. To better serve the region, the Boston-based company announced the launch of its new Center of Research Excellence at the University of Hong Kong, as well as the strategic partnership with the Asia-Pacific Society of Human Genetics (APSHG). These partnerships are advancing clinical and molecular understanding of diseases within the region.

The FDNA Center of Excellence is led by Dr. Brian Hon-Yin Chung, a Clinical Geneticist at University of Hong Kong. “This is a major breakthrough in genetics for the region,” said Chung, “Up to now; genetics has relied almost exclusively on data from Caucasian populations. We are working to continue improving the facial analysis performance of Face2Gene for patients of Chinese origin, advancing genetics in China and allowing us to rapidly solve many mysteries of genetically-caused diseases for tens of millions of patients.”

According to Dr. Lai Poh-San, President of APSHG, “Up until now, there has been a relatively small amount of actionable genetic data specific to Asia-Pacific populations. This work can change this forever and impact the lives of tens of millions of patients. In a short time, we’ve greatly increased our ability to make exciting discoveries and provide answers for patients who sorely need them.”

Gelbman added, “Unlike other efforts, these collaborations emphasize the commitment to share data across the region and is putting these data to work immediately for clinicians with real patients. With this initial training complete, we plan to continue to expand this effort over the next year. We expect to see Face2Gene used even more frequently in Asia-Pacific regions with high impact on patient lives.”

Further building the region’s genomic infrastructure is Genome Asia 100K. They are a non-profit organisation collaborating to sequence a total of 100,000 Asian individuals’ genomes. Right now, they have successfully sequenced 2,000 genomes.

The project’s Chairman, Stephan Schuster, told Front Line Genomics, “The more we undertake research of Asia; we discover that it is genetically way more diverse than expected. We want to contribute to this effort to determine which variants are genetic variants in the population.”

After the recruitment of founding partners MedGenome and Macrogen, the organisation is well on their way to achieve their end goal, and continue to analyse genomes and clinical ‘big data’ sets, leveraging advances in data science and artificial intelligence to build upon the insights into the genome diversity.

Tapping into those opportunities within computational power and artificial intelligence programmes is WuXi NextCODE. Their co-founder and CEO, Hannes Smarason has gone as far as claiming that their tool does for medical researchers and clinicians what Google’s search engine did for internet users nearly two decades ago. With China hoping to become a global artificial intelligence leader by 2030, the company believes that their platform has the potential to drive change in medical treatments.

All of this is good news, as precision medicine continues to transform into a global effort. The migration of populations over decades and centuries has effectively made the global nature a requirement for success. As well as benefiting a vastly underserved region, the work being carried out in Asia will also go a long way to serve underrepresented ethnic groups that have taken root around the world.