The Need to Address the Ensuing Data Explosion is Imminent

Clearly, the DNA sequencing technology has matured and is continuously being optimized for performance while becoming increasingly affordable, thus opening an era of reliable and foreseeable quality data growth demanding high computational resources and data storage. With the rise of varied applications, be it in cancer research, infectious diseases, and other therapy areas, and with the launch of large initiatives (e.g. The Precision Medicine Initiative (PMI)), the need to address the ensuing data explosion is imminent.

Oncology is the dominant sector that currently benefits from next-generation sequencing followed by applications in inherited and rare disease understanding, infectious disease, the microbiome, and others. It is expected that soon, agriculture will also benefit from the technological developments that currently help propel both biomedical research and the clinical sector. Continue reading

Just Released – Our New NGS Data Analysis & Interpretation Ecosystem Analysis Report

Palo Alto, CA, August 22, 2016 – enlightenbio LLC, today announced the publication of its NGS Data Analysis & Interpretation Ecosystem Analysis Report. This new report details an extensive ecosystem analysis of 25 commercial companies in the NGS data analysis and interpretation space, market trends, unmet needs and challenges. The report is unique, in that it is not a predictive market research report, but rather builds on data gathered from many end-user interviews combined with an extensive ecosystem analysis.

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This comparative ecosystem analysis of key commercial data analysis and interpretation tool providers reveals a range of capabilities that uniquely address both secondary and tertiary sequence data analysis needs. At first glance, the value propositions and communication of capabilities may seem overlapping or similar. However, a deeper analysis clearly uncovers substantial differences in the product characteristics related to analysis and interpretation, data management, data sharing and collaboration, reporting of findings, compliance and security mechanisms, and type of content made available for meaningful knowledge extraction.

While this report does not intend to provide direct recommendations to end-users for Continue reading

The JP Morgan Healthcare Conference from Afar

This being an invitation-only conference, I had to follow the JP Morgan Healthcare conference from a distance. As we have witnessed in the past, exciting announcements happen here in San Francisco around or just before this annual conference and some of the news spark what eventually will become the big trends throughout the year. One could say it is a window to what is just around the corner in 2016.

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Obviously, Illumina made quite the splash with two separate announcements: (1) launch of the new company Grail – major co-investors include Bill Gates, Jeff Bezos, and others – focusing on pre-symptomatic cancer testing based on the hot liquid biopsy-based Continue reading

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 Continue reading

AHSG 2015 Roundup – Big Data, Heritability, Epigenetics, Enhancers, and Patients as Partners

ASHG-2015-meeting-logoThe ASHG conference in Baltimore was accompanied by some broadly discussed highlights which are reflected in how the media and the social networks embraced it. It was nice to see that the coverage spanned not just commercial launches, but also included research highlights and other general announcements.

Before summarizing the different announcements, I want to state how exciting it was hearing Dr. Francis Collins (Director of NIH) talking about his vision of the new Precision Medicine Initiative (PMI) and the many opportunities it presents to advance its clinical application by creating a cohort of a million individuals. In his presentation, he was asking for a new rule of participants in health studies. In the same go he thanked the Henrietta Lacks family, which was present in the audience, for all they did to further science – the Henrietta Lacks’ descendants now serve as advisers to the NIH.

Another highlight of the conference was the first “Art and Science of Science Communication” session put in place by Chris Gunter, this year’s program Chair. The invited panel consisted of Ed Yong, staff scientist at The Atlantic and author of the blog “Not Exactly Rocket Science”, Liz Neeley, executive director of The Story Collider, and Andrea Downing, author of the blog Brave Bosom and creator of an online community Continue reading