Highlights from Festival of Genomics California 2016

PrecisionFDA, Explore Your Genome Giveaway, & Treadmills

Last week, we had the pleasure of attending Festival of Genomics California. We hope you were able to catch some of the truly inspiring talks from the plenary speakers, such as Karen Nelson from J. Craig Venter Institute, Manolis Kellis from MIT Computational Biology Group, and Carlos Bustamante from Stanford University School of Medicine.

Our big story at the conference was about precisionFDA – an open source platform to advance regulatory science about NGS-based analytic tools and datasets. DNAnexus is under contract with the FDA Office of Health Informatics to assist the FDA in preparation for a December 15th launch by developing the precisionFDA portal and assisting in the engagement of the genomics community. At the Festival, we organized a panel moderated by Omar Serang and George Asimenos who led a discussion involving Deanna Church, Personalis; Michael Eberle, Illumina; Kevin Jacobs, 23andMe; and Justin Zook, NIST.

We kicked off a closed panel discussion with a video overview of precisionFDA.

George showed screenshots of the precisionFDA platform, highlighting examples of how the community will be able to use the platform, including the variant call comparison tool that can compare results between a test dataset and a benchmark/reference dataset, and separate out true positives, false positives and false negatives.

From there, the panel delved into a lively discussion. Deanna pointed out that only roughly 1500 out of the 4000 genes that have some clinical relevance are represented in their entirety in the Genome in a Bottle/National Institute of Standards (NIST) and Technology NA12878 dataset. Therefore, the precisionFDA community needs to spend time expanding that sample, not just adding more samples to the community’s database. Michael stressed the importance of pedigrees in validating variants in a reference sample.

Kevin made a passionate speech for how the community needs to focus on conventions. How can we possibly enter an era of precision medicine if we are still unable to agree on where the human genome exons are located? Researchers use computers and algorithms to calculate the results with binary formats, however the reality is the computer is only doing what the human researcher tells it to do, and since humans are not very precise, how can we be confident in our results? Justin stressed the importance that NIST should not be the standards-making body for dictating these standards, they need to be developed and agreed upon by a community.

In addition to its variant call comparison functionality, the precisionFDA platform will allow participants to conduct in-silico experiments using software and publish their conclusions in the form of electronic notes that can be placed with their experiments and reference the data and analyses. Using this feature, participants have the opportunity to showcase to the community their views on certain “hot” topics such as “the utility of simulations”.

Be sure to visit precision.fda.gov and follow us on @precisionFDA to get the latest. The platform will be accepting applications for membership in the community beginning December 15th!

Explore Your Genome Giveaway!
In addition, we also want to thank Sure Genomics for joining us in our booth to demo their product and discuss how the DNAnexus Platform analyzes their customer’s whole genome sequencing data. During the festival Sure Genomics and DNAnexus announced two lucky winners that will have their genomes sequenced and analyzed by Sure Genomics.  Each winner will receive a complimentary Personal DNA Kit, personal DNA report mapping key markers, and one-year free storage.   

Day 1 Winner:  Alain C., Insilico
Day 2 Winner:  Jennifer P., Kapa Biosystems

Congratulations Alain & Jennifer!

Returning Winners of Race the Helix Treadmill Challenge
FoG CA Race the HelixBlazing fast. That’s the only way DNAnexus runs, whether in the cloud or on the treadmill. DNAnexus repeated its June victory in Boston to win the Race the Helix Treadmill Challenge in California.

We also want to thank all those that stopped by our booth. We look forward to seeing everyone again next year at Festival of Genomics Boston.

precisionFDA: A Community Approach for Submitting & Evaluating Diagnostic Tests, Powered by DNAnexus

DNAnexus has been awarded a research and development contract by the FDA’s Office of Health Informatics to build precisionFDA, an open source platform for community sharing of genomic information.

precisionFDA is a new approach for evaluating bioinformatics workflows, and is an integral part of FDA’s work in better understanding diagnostic tests that incorporate next-generation sequencing (NGS) technologies. As a component of the White House’s Precision Medicine Initiative, precisionFDA’s streamlined approach to evaluating NGS-based diagnostics and creation of reference datasets will build a community around best-practices resources and democratize the submission process to the FDA.

The FDA has adopted a community approach to crowd source reference analytical pipelines and datasets for the testing validation process by the community members who will be utilizing them. The DNAnexus Platform will deliver precisionFDA, providing the underlying cloud-based compute and data management infrastructure. In addition, DNAnexus will work with the FDA to build a community around its informatics platform to help drive standards around secondary analysis, the process of mapping, alignment, and variant calling of DNA sequence data.

The value of secondary analysis is undermined when datasets and bioinformatics tools are not harmonized for comparison and reproducibility. precisionFDA, with the help of the genomics community will streamline the process for submitting and validating NGS-based tests. Standardization will improve the evaluation process through consistent data quality, increased integration and reproducibility, and improved data exchange with collaborators.

Key objectives for precisionFDA include:

  • Exploring the use of a cloud-based portal, precisionFDA, to create a community around open-source genomic analysis pipelines, reference data, and analytical processing resources.
  • Determining appropriate and auditable levels of security, privacy, and governance control to ensure the protection of collaborators’ intellectual property and protected information, while enabling interaction within the community.
  • Providing an initial set of reference genomic data models and reference analysis pipelines.
  • Independent genomic analysis and data management work areas that can be kept private or shared with owner’s choice of collaborators, the public, or FDA for vetting or validation .

As a cloud-based informatics platform, precisionFDA will provide open source reference applications, reference datasets, and cloud-based compute and data management resources for the validation of NGS-based tests.

precisionFDA DNAnexus

precisionFDA is slated to provide test developers a flexible method for independently evaluating the accuracy and reproducibility of NGS analysis workflows, and to securely share results with collaborators and the FDA. DNAnexus expects the platform to be used broadly by NGS-based test providers, standards-making bodies, pharmaceutical and biotechnology companies, health care providers, academic medical centers, research consortia, and patient advocacy groups.

We predict that this new model for evaluating NGS-based tests will open up the process to a broader range of community members, who will benefit from open source reference data and applications and pay-for-use compute and storage resources, leveling the playing field for smaller test developers.

We are pleased to share this new and strategically important FDA initiative and look forward to collaborating with the genomics community in shaping this next evolution of precision medicine.