Happy National DNA Day

The National DNA Day commemorates the 1953 Nature publication of the Structure of DNA by James Watson, Francis Crick, Maurice Wilkins, Rosalind Franklin, and colleagues. It has been….

Image credits: Zen Sutherland

  • 65 years since the publication of the Molecular Structure of Nucleic Acids
  • paper by Watson, Crick, and colleagues like Wilkins and Franklin,
  • 41 years since the release of the Sanger sequencing methodology,
  • 31 years since the launch of the first automated DNA sequencer by Applied Biosystems which eventually enabled the completion of the Human Genome Project in 2001,
  • 12 years since the launch of the Solexa Genome Analyzer, the first second-generation sequencing platform, which supported the sequencing of 1 GB of data in a single run,
  • 4 years since the $1,000 Genome has become a reality via Illumina’s introduction of the HiSeq X Ten platform and a 10,000-fold reduction in price relative to the cost of the human genome in 2004,
  • 3 years since the completion of the 1,000 Genomes Project and the start of the 100K Genomes Project and many other projects taking off.

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