Innovation in genomics and the future of medtech 

The field of medicine is in the process of being profoundly transformed by new technologies; much of this transformation comes from exciting advances in genomics.

Although genomics is relatively unknown to the general public, innovations in the field have started to make headlines: Genetic testing startup 23andMe, the “gene editing” technology CRISPR and the ambitious 100,000 Genomes Project have all come into the public eye.

Whether perceived with hope or suspicion by patients or governments, the new frontiers opened by these innovations are undeniably leading to unprecedented opportunities for better health — an issue that’s demonstrating great appeal with more and more VCs and business angels. So what can we expect in the coming year from the field of genomics?

A new definition of “early detection” for cancers

The last wave of innovation in terms of technology and detection of cancers, namely screening programs such as mammograms, colonoscopies, etc., has brought a great deal of efficiency.

But this type of exam has led us to an idea of “early stage” that is relative: By the time a tumor can show up through mammography or on a CT scan, it has already grown to a certain size. True “early detection” will come about when we change the scale of our capabilities and are looking at the molecular level of our physiology, namely through research on the epigenome and epigenetic marks.

We’ve developed technologies such as liquid biopsies that can detect cancer DNA even in the first several days after its arrival. Researchers also have discovered five epigenetic marks for cancer, and we can expect more to come.

Synthetic DNA production has already started.

While this is undoubtedly a positive step, this level of early detection raises important questions as well. How can we know when a tumor detected at a molecular level will express itself as a true disease? How can we handle issues of “over-diagnosis,” if this proves to be a question?

Answering this type of question comes down not only to technology itself, but also to our experiences with big health data and deep learning. We need more data to be collected and analyzed — a priority that’s been taken on by lllumina’s GRAIL project, whose results are highly anticipated.

Big data also can help scientists closely monitor the efficacy of drugs, as well as detecting very early signs of drug resistance. Major names such as Roche and Johns Hopkins are leading the way, while companies such as Guardant Health are expanding their operations worldwide.

Better understanding of genomics through deep learning and AI

Data is not only the cornerstone of cancer treatment. It also enables us to develop an idea of functional genomics, not just coding. New companies are pushing algorithmic technology forward, such as Deep Genomics (which raised $3.7 million last December) and iCarbonX.

By using deep learning and AI, they hope to give us more applicable knowledge of the human genome. But to do that, they need as much data as possible — more than traditional medicine has been accustomed to using. While it may take time to push this type of data collection and analysis forward, these companies are expected on the market this year, and there is a great amount of excitement around them. 

Cloud-based software facilitates faster and better analysis for genomic information

A new solution for genome analysis was brought to market by a collaboration between Broad Institute of MIT and Harvard and industry giants Amazon Web Services (AWS), Cloudera, Google, IBM, Intel and Microsoft. Developed as a software-as-a-service (SaaS) mechanism, the traditional desktop GATK software can now be accessed through the cloud, based upon the Apache Spark computing framework.

At the same time, Illumina announced its new platform, BaseSpace Suite, launched at Bio-IT World in Boston in April. The platform is described to be “the most complete sample-to-answer bioinformatic solution for genomics.” Moreover, they try to attract both clinicians and researchers with a promise of a more intuitive and user-friendly interface.

Faster, smaller, cheaper DNA testing

The trend in DNA testing will be for WGS and WES sequencing to take over genotyping based on a DNA microarray. This will lead to higher quality and lower pricing compared to today’s market. It will also lead to faster results: Last year, the time needed to perform WGS sequencing came down to a little more than 24 hours using Edico Genome’s Dragen Bio-IT processor.

These breakthroughs show that the coming year is going to be full of opportunities.

This trend also is leading toward mobile DNA sequencing capabilities, which could transform the diagnosis of infectious diseases, particularly during emergencies. Oxford Nanopore’s MinION device launched at the end of 2015, and its possible applications will come in handy with outbreaks such as we’re seeing today with the Zika virus. Similarly, the GenapSys GENIUS sequencer is no larger than an iPad and is able to sequence DNA practically anywhere.

Finally, advances in techniques for the isolation of single cells are on their way. The goal is to provide the most detailed and accurate picture yet of cellular genetics, which will have significant impact on our understanding of cancer, the neural system, stem cells, embryo development and the immune system, even with just a single cell available for analysis. 

Access to personalized genomics for everyone

Today, if one wants to have access to a holistic approach to medicine based on genomic understanding, it means investing around $2,000 in one’s own health. To make this new approach available to more and more patients, there are a number of companies beginning to offer WGS sequencing, and prices are likely to fall in the near future. The first to have launched a drastically cheaper product is Veritas, with “My Genome,” for $999 — although it should be noted that the issue of data sharing with third parties remains unclear.

Access to personalized genomics is likely to revolutionize the way patients view preventive medicine and their access to health. Although its broad adoption by the public is still to be proven, the ambitions of those entrepreneurs are shared by a great number of investors, as shown with funding rounds closed by Human Longevity, Omixy and Arivale.

Genetic edition — toward a “customized” gene?

Synthetic DNA production has already started, and will continue to grow this year, giving researchers fast, affordable and secure access to any DNA sequences they may need.

CRISPR technology claims it’s already capable of splicing and editing genes, and has shown great improvements in lung cancer and leukemia.

The implications of this technology are almost overwhelming. Essentially, with accessible and affordable CRISPR technology, we will not only be able to treat hereditary disorders and other mutations that give rise to disease, but to even modify hereditary characteristics, make genetic enhancements or perhaps create “customized” embryos.

This idea of human enhancement has given rise to an ethical debate around CRISPR therapies and other similar techniques. This debate is more than important, it’s crucial for the future of humanity; and it’s becoming clear that we will need strong and harmonized international regulations. But these need to be regulations that don’t slam the brakes on the work of researchers who still have so much to discover. They also need to take into account all interested parties: scientists, doctors, patients and even parents.

All these breakthroughs show that the coming year is going to be full of opportunities for innovators, and the medtech industry at large. Everyone, whether patient, medical professional, politician, entrepreneur or investor, has a part to play in the genomic revolution. The societal impacts of such innovations and the need for better data-collection make it crucial for all stakeholders to move forward in a collaborative effort.