Helix Genomics has been referred to as an app store for genetic insights. For some, this approach to genomics may seem like a thrilling arrival into the future, and for others it will be more of a fear inducing exercise. However you feel, it’s undeniable that this company is going full steam ahead given their investment and partnership milestones since the $100M spin out from genetics giant Illumina in 2015 - and they’re not alone.

There is a plethora of direct to consumer genomic companies offering everything from personal ancestry, to personalized shopping lists and dating services. Lisa Suennen, Senior Managing Director at GE Ventures, recently flagged that to date there are over 70,000 genetic tests on the market and up to 10 new ‘solutions’ appearing each day - many of these merely providing entertaining distraction from the true clinical applicability of genomic testing for improved population health.

What we need is integrated systems offering actionable insights for (you guessed it) increased healthcare efficiency, reduced costs and improved health outcomes - enter Genomics England and GenomeAsia100K, two organisations standing out from the crowd when it comes to real impact for population health.

GenomeAsia100K - Representing the Underrepresented for Global Impact

GenomeAsia are a mission driven non-profit consortium collaborating to sequence and analyze 100,000 Asian individuals genomes to help accelerate Asian population specific medical advances and precision medicine with all data open to the public.

The genetic diversity in Asia provides valuable clinical insights that should enhanced our understanding of disease biology. In addition despite being >40% of the world’s population Asians are pointedly underrepresented in current genomic studies and reference genome databases.

The first major hurdle for GenomeAsia is to create a reference genome from 10,000. After the reference genome is created it will be followed by sequencing an additional 90,000 individuals and combined with clinical and phenotype information to allow deeper analysis of diseased and healthy individuals.

The second moonshot for Genome Asia will be to parse genomics and clinical ‘big-data’ sets, leveraging advances in data science and artificial intelligence to build upon their insights into the genome diversity. This data will then be made publicly available for further research. Nearly 60 petabytes of data, the equivalent to 30 trillion pages of text are expected to be churned out in this study.

“Advances in sequencing, computing and mobile access mandates that we begin to study these underrepresented Asian populations” - Dr Stephan Schuster

The GenomeAsia project has peaked the attention numerous actors in the space, and rightly so. The unique nature of genetic diversity in Asia, in particular in the Southern and Eastern countries, has been hailed as promising an invaluable source of clinical insights into the most prevalent causes of morbidity and mortality in the world cancers and diabetes.

Genomics England, set up to deliver the 100,000 Genomes Project, work with NHS England a across the country with the audacious aim to bring the benefits of personalised medicine to the greater public health system in the UK. Genomics England have committed to sequencing 100,000 whole human genomes, from 70,000 patients, by the end of 2018.

As an integral part of the program, NHS Genomic Medicine Centres (GMCs) recruit and consent patients who provide DNA samples and clinical information for analysis. In partnership with Illumina, DNA is sequenced and the diagnostic and health insights are then analysed to provide clinicins with information around identification, diagnosis and treatment of various diseases.

"The UK is ideally placed in terms of the precision medicine agenda, because we have the ability to longitudinally follow patients. The database of whole genomes will continue to grow even once the 100,000 Genomes Project comes to an end because we have been able to show that there is clinical utility and also a strong health economics case for whole genome sequencing. The NHS will be commissioning whole genomes as routine clinical care going forward, it will not be a pilot anymore.

The 100,000 Genomes Project finishes at the end of the year and then rather than it coming to an end, the NHS will start doing this on a routine basis for individuals with rare diseases and cancer. This is great news for the UK, as the rich data asset that has been generated will continue to grow. At the same time this allows Genomics England, as a company, to start looking into other opportunities beyond rare diseases and cancers.

Having the freedom to pursue other diseases and disorders will allow us to continue to grow the database, which in turn will provide an even richer environment for academia and industry to do meaningful research, develop novel drugs and therapeutics, and ultimately design their clinical trials more appropriately." - Joanne Hackett, Genomics England

So what now? We have gone from genome sequencing costing a whopping $10M in 2007 to as little as $79 in 2018. Despite these rapidly falling costs, making individual genomic testing more accessible, it is important to stay focused on real integration into clinical settings for broader population health. We undoubtedly have some strides to go in order to make this a reality, but initiatives such as GenomeAsia and Genomics England are setting the groundwork for real world implementation and scale, and crucially setting a precedent for others to follow. As it stands, the future reimbursement models remain unknown. One thing we can be sure of is that creating silos of individualised ‘solutions’ will cause more harm than good and that ultimately those who tie their clinical implementation, scientific discoveries and population engagement will be those leading the charge.

We are delighted to welcome both Professor Joanne Hackett and Professor Stephan Schuster to our London Global Gathering in May where we will deep dive into the future of population genomics and personalized medicine. Feel free to reach out on hanna@healthxl.org for more information if you're interested in learning more.

“Genomics is important, but it's just one piece of the puzzle. All the complex traits. All the neurodegenerative disorders, cancer, diabetes — it's all more than genetics. If we only talk about genomics, about massive data without clinical info,that's not enough.’’ Jung Wang, CEO, iCarbonX