2015 – A Year of Health Initiatives, Commercial Milestones, Company Acquisitions, and Scientific Achievements

2015 was a fast moving and busy year in the many fields of science, next-generation sequencing, diagnostics, and of course precision medicine. A lot can be attributed to technological advancements particularly in next-generation sequencing which has shaped where we are today. Resulting applications are growing, building on major research findings, evident in the clinic and in industry achievements in areas of aging, obesity, the precision medicine initiative, diagnostics, the $1,000 genome, liquid biopsy, NIPT, new approaches towards breast cancer treatment, and much more.

PMiUnprecedented press clearly went to the purposeful Precision Medicine Initiative (PMI) with its launch at the State of the Union address by the President in early 2015. Since then this year has brought us a flurry of activities related to this prominent initiative: building an advisory committee to the NIH Director (ACD), the creation and approval of the ACD’s working group report, the announcement of initial funding opportunities, the
White House addressing and releasing Privacy and Trust Principles, the announcement of the 2016 budget, and last but not least the launch of the precisionFDA community platform at the end of the year.

Companies have reached new milestones. 23andMe, with a $1 Billion evaluation, has entered the drug discovery arena via building its own unit and large pharmaceutical collaborations that will mine their massive customer DNA database (>800,000). The company also obtained approval for a series of tests after a two-year break that included extensive user comprehension testing and a complete redesign. Working tightly with the agency their newly launched test series is for 36 inherited disorders, targeting the consumer and focusing on carrier status, wellness, trait and ancestry reports. Other company news included Veritas Genetics breaking the whole genome $1,000 barrier, while Qiagen released its GeneReader for clinical sequencing. The 100,000 Genomics England project started enrolling cancer patients, Color Genomics came out of stealth mode and launched the $249 breast cancer and ovarian cancer risk test (capitalizing on Myriad Genetics patent ruling), and Human Longevity announced to provide whole exome sequencing to clients in South Africa for $250. There were of course also some setbacks, with the FDA picking up on recently released tests: Pathways Genomics for not being able to provide evidence that their test or similar tests have been clinically validated, DNA4Life’s inability to provide an FDA clearance number, and the classification of Theranos’ blood vials as uncleared medical devices. Notable acquisitions happened: Roche acquired Bina Technologies (end of previous year), Foundation Medicine, and Kapa Biosystems, Illumina acquired GenoLogics, Human Longevity acquired Cypher Genomics.

Next-generation sequencing got its share of attention with the rise of new high-throughput technologies, including the release of new sequencing platforms by Illumina and Pacific Biosciences. Furthermore, 10X Genomics unveiled a full commercial version of its new technology, while Edico Genomics demonstrated its faster analyses processing capabilities. Microsoft Azure started to be a “watchable” player as a cloud-supporting resource in the sequence data analysis space. Illumina of course was not short on activities and announcements, further setting the path forward by investing in Helix, a consumer oriented ancestry and health company, as well as by partnering abroad with genomic enterprise organizations to expand overseas. Illumina was also active in different strategic partnerships and investments, which included their continuous presence in the NIPT market, their announcements of their circulating tumor DNA development program, NGS-based oncology test system, and the Actionable Genome Consortium.

The ongoing controversial Myriad Genetics’ patent dispute was put to an end when several of the companies Myriad was suing for patent infringement announced settlements. On the clinical side, positive developments were observed in and around breast cancer diagnosis and treatment: new diagnostic tests promise to predict breast cancer relapses months in advance, and show predictive value of a patient’s response to chemotherapy. For patients with DCIS (ductal carcinoma in situ) it has been recommended to follow an active surveillance program rather than trigger a prophylactic mastectomy which has been demonstrated to not necessarily improve survival of most patients.

The science community worldwide contributed to the better understanding of various diseases, among them obesity with the identification of a strong genetic factor linked to the disease. In other news, the relevance of exercise and sleep on the brain has been further supported via several different studies, and the ins and outs of aging was a continuous theme: a newly developed telomere-lengthening procedure suggested to extend life, while at the same time statins are suggested to accelerate aging, and a 150 gene panel “aging signature” relating to cognitive health has been proposed. The CRISPR-Cas9 technology was the top hot tool with its array of new applications and associated possible ethical issues. Last but not least, big data projects including the completion of the 1,000 genomes project and with it, the release of the world’s largest catalog of human genomic variations have been announced.

What an exciting year – and looking forward into 2016 it will be fascinating to see what astounding developments are in store and will rock the world of science and healthcare, and how the pharma and biotech industry will capitalize on those while facing the ever increasing challenges related to delivering novel, and high value medicines for never-before-treated diseases.