In the life sciences, 2016 brought us many significant developments, and thank goodness, it’s mostly exciting and great to talk about those in length. I am talking here about technological advancements, the many new applications next-generation sequencing is seeing, genetics moving into the clinic, precision medicine finding its mark in oncology and beyond, immunotherapy establishing itself as the leading weapon to attack cancer, and more.
The significance of these developments is further manifested with clinical omics taking shape, hospitals adopting new applications, and testing and treatments that are based on next-generation sequencing, omics data, and more. The results speak a clear language: improved diagnostic tests, and more precise therapeutics.
Here a few highlights – not an all-inclusive summary – of what made 2016 so exciting.
Next-generation sequencing matures
In 2016, we’ve reached a stage where the limitations of next-generation sequencing is not at the level of sequence data generation anymore, rather the limitations are associated with making sense of the data, as well as clinical adoption. This is obvious as one observes what is happening in the NGS space with Illumina, Thermo Fisher Scientific, PacBio, or Oxford Nanopore having evolved to now include global installs of high-throughput or benchtop sequencers addressing the needs of pretty much every researcher, clinician, or larger organization. In addition, the long read sequencing technology has now the potential for clinical reality with Oxford Nanopore and PacBio. Sure, we are still far away from calling it a “job done”, but we have reached a satisfactory technical level at an acceptable price tag.
Furthermore, look at Illumina with Francis deSouza taking over as the new CEO in July of 2016, focusing on the NGS software side of the company, while Jay Flatley joined the board and is spending his time on the relevant issue of reimbursement. Of further note, Illumina is now starting several interesting partnerships and programs across different universities and healthcare organizations some of which are focusing on translational research and the clinical application of genomic data. It is now clear that analyzing sequence data will be a far bigger demand and challenge than data generation.
Oxford Nanopore has been showing promise in long read sequencing possibly overtaking PacBio. 10X Genomics is being embraced by many for their forward-looking approach to tackle the many different challenges associated with sequencing via sophisticated solutions via linked-read technology. Color Genomics has been challenging the gene testing arena with affordable tests, while Veritas Genetics is setting a new standard for whole genome sequencing with a price tag of $999 which includes interpretation and delivery of data via a secure and digital report. On the other hand, we saw some apparent setback, with Roche terminating the Roche/PacBio contract without additional information.
In 2016 the cloud made its mark and is now a clearly established component that addresses the scale and data analysis infrastructure challenges, with new players being added to Amazon, including Google, IBM, Intel, Microsoft Azure, and Dell. This is further exemplified with the Broad Institute moving its genome analysis to the cloud or the launch of the cloud-based precisionFDA community platform for next-generation sequencing assay evaluation and regulatory science exploration as part of the Precision Medicine Initiative.
Data sharing crucial to curing illnesses
With the obvious data explosion, data sharing is getting more and more relevant in order to expedite science and clinical applications. We have seen leading genetic testing companies making genetic information or entire sequences available (e.g. Ambry Genetics, Invitae, Illumina), as data volumes can help pull out more significant numbers on variants and genes and their contributions to diseases. Pooling data is considered crucial to finding genetic elements that contribute to illnesses. Of course the questions with all of this are: who owns the data and who should have control of it. Therefore, data security and data protection has been and will continue to be a big component in making data sharing a viable success.
Genetic testing and clinical applications
Different diagnostics companies expanded their repertoire of genetic testing menus and make them available at an affordable price: Invitae added a series of pediatric tests, Kailos Genetics announced a $125 hereditary cancer screen, and Color Genomics and Pathway Genomics offer tests at out-of-pocket prices. In addition to expanding the genetic testing repertoires diagnostic companies also intensified their interactions with the FDA to discuss reimbursement which was accompanied by Medicare and Medicaid increasing their contribution. Last but not least, the FDA has been creating more of a presence in the field of sequencing by releasing NGS guidelines. Notable signs of this tighter involvement were among others the questioning of Theranos, Lumos Labs, and Pathway Genomics via warning letters (in 2015) and fines about products that regulators believe promise more than they can deliver and drafting guidance for oversight of next-generation sequencing.
Science is exciting, but also disputed
On the scientific side, “authophagy” or “self-eating” was recognized in its importance and relevance with its Nobel Price (Japan’s Yoshinori Ohsumi), liquid biopsies have been demonstrated to show promise, and the CRISPR gene-editing technology has been announced to being applied in humans by a Chinese research team. High-throughput sequencing revealed that both the coding and regulatory regions of APOE may contribute to longevity in humans.
Immunotherapy is reaching new heights
Immunotherapy made the news with new treatment options coming to market, already changing the long established standard of care in various indications. A new drug called Tecentriq (atezolizumab – Genentech Oncology) was approved for the treatment of metastatic non-small cell lung cancer (NSCLC). Immunotherapy successfully replaced chemotherapy as first-line treatment against lung cancer, all the while we realize that we need more knowledge on how to identify immunotherapy side effects earlier and increase response rates by identifying and use of predictive biomarkers. There were some unsettling news in the field, most notably the unfortunate deaths of several enlisted patients of the Juno Therapeutics drug trial which resulted in the immediate trial termination. In general, investments and efforts in immunotherapy overall were huge, as demonstrated with a tightly formed coalition between different drugmakers (Amgen, Celgene, GSK, and Independence Blue Cross) pulled together by billionaire Patrick Soon-Shiong, CEO at NantWorks, to focus on “Moonshot 2020” with the goal to create successful combination treatments. The specific initiative includes the sequencing of tumors of 20,000 patients to create a patient registry where drugmakers can find specific patients for their trials.
The not so rosy side of 2016
Of course 2016 was not just rosy; we also had the negatives with the unicorn Theranos taking the lead. Once considered the rising star on the biotech scene (raised nearly $900M) with a nearly $9 billion market evaluation, investigated and uncovered by Wall Street Journal, Theranos is now being sued by a major investor and Walgreens for deceitful and substandard blood testing practices. A couple of major patents disputes were also making the headlines including Agilent suing startup Twist biosciences over trade secrets, and of course the widely known intellectual property dispute over the ownership of the CRISPR-Cas9 gene editing tool (Berkeley versus the Broad Institute).
Large investments in technologies and companies shape the industry
Disruptive technologies and applications have been changing the world of tech all around us, and that has also been visible in the life sciences and has in 2016 been reflected in a series of large investments announced throughout the year: Grail with a $40M investment by Illumina, Agilent Technologies investing $80M in Lasergen to build a next-generation sequencing solutions workflow for clinical applications, Human Longevity raising an additional $220M (and is now valued at $1.2B), Color Genomics raising $45M to provide cheaper genetic tests, Peter Thiel backing DNA-testing company Counsyl with $100 million, and the formation of the Chan Zuckerberg Initiative committing $3 billion to have a major impact by 2100 in curing disease. Similarly, many acquisitions took place, among them the much eyed Tute Genomics which was acquired by Peridian DX for an undisclosed amount (no recent information since then). Sunquest acquired GeneInsight to enhance precision medicine capabilities, while LGC acquired Douglas Scientific, and Twist Bioscience investing in Genome Compiler to expand beyond the US. Other acquisitions included LabCorp taking over Sequenom, and Danaher buying Cepheid for $4 billion.
Interoperability a major focus
Interoperability was a major focus in the healthcare sector with the goal to deliver better care by spending dollars more wisely. The focus is on payment transformation, i.e. to pay more for quality instead of quantity of service. We expect to continue to see momentum on this topic this year with major healthcare companies and organizations committed to interoperability.
Let’s not forget the government initiatives and other big initiatives
The government initiatives added the Cancer Moonshot, and the Microbiome Initiative. AstraZeneca launched a project to sequence 2 million genomes (partnering with institutions like Wellcome Trust and Human Longevity) with the aim to pool genomic and medical data in hunt for rare genetic sequences associated with disease. China is being seen as embracing precision medicine on a massive scale – exactly a year after President Obama announced the Precision Medicine Initiative – investing $9 billion to use large scale sequencing in the hope of utility towards the development of customized new drugs that should translate into subsequent spin-offs of promising new companies both abroad and at home (includes Boston Childrens’ Hospital). Genome-sequencing companies are vying to provide services to be part of the deal given the anticipated demand. It is expected that WuXi PharmaTech, Cloud Health, and Novogene will be providing the main sequencing support for China’s precision medicine initiative, with WuXi NextCODE specifically selected to support its 18-month proof-of-concept project, which also represents a first step in Singapore’s national precision medicine initiative.
The microbiome gets its own initiative
The microbiome – considered an undiscovered ecosystem – is getting its full acceptance as a crucial contributing determinant to the overall health of an individual. It is thus not surprising that considerable efforts are under way to study and research the microbiome extensively, as demonstrated with large programs already underway, and with a wealth of companies being established in this space. We also start to understand how the microbiome is contributing to our everyday health, and influenced by what we eat, what we do, where we live, whether we exercise or not, and how we can take care of it as it could rapidly become our new best friend.
To sum it all up – 2016 was indeed an eventful and exciting year, and it will be interesting to see if 2017 can live up to the challenge to compete
What we will continue to see is further adoption of NGS, moving to single cell biology, while clinical genomics is expected to vastly improve health diagnostics. Testing will move closer to the patient, as we see the discovery of more genomic biomarkers that will help explain the genomic differences across populations, ultimately resulting in the development of more targeted therapeutics aimed at specific patient populations.
What does this mean for 2017: we’ll see a continuous data explosion, a need for scalable and secure solutions, a need for sophisticated analysis tools and along with that a supportive infrastructure, the rise of machine learning and artificial intelligence, adapting genetic discoveries to fit clinical needs, solutions that support global data sharing, sophisticated knowledge extraction and actionable findings reporting, and mechanisms that help manage and protect our (own genome) data. At the same time, there are many unknowns and uncertainties, e.g. related to the new incoming administration and its impact on the FDA as well as on investments in important initiatives that will drive patient-centered healthcare. The year has just begun and all eyes are on the JP Morgan Healthcare Conference which started this week and which typically provides us with a first read of what the new year may have in store.
