If there ever were a “shovel-ready” project fit for the 21st century, it is biomedical whole genome analysis. Built from investments made over the past 20 years by the NIH/DOE and untold numbers of public and private institutions, the Human Genome project has unleashed an arsenal of molecular biological technologies such as massively parallel DNA sequencers, DNA microarrays, mass spectrometers and other tools for collecting data at a whole-{genome, transcriptome, proteome, metabolome} scale. It’s now quite easy for researchers and lab techs to amass mountains of data, but it’s not so easy to sift through it to extract biologically and medically meaningful insights and relationships. Forget the shovels; we need bulldozers.
It is a milestone achievement for humanity to have decoded its complete genome and to be on-track for developing technologies that can do this cheaply for any individual. We will soon be inundated with multitudes of personal genomes, and multitudes of persons wanting help interpreting their (or their patients’) genome — primarily to learn about potential health risks for themselves and their children or to seek guidance during diagnosis and treatment of existing health conditions.
Though we’re rapidly getting quite good at collecting our whole-genome DNA sequence data, we still have a way to go in analyzing and managing it in clinically meaningful ways. Metaphorical shovels & bulldozers are needed to build better tools, resources, and service providers with the expertise in genome analysis and the ability to translate this complex data into informative reports that are digestible to both doctors and their patients.
So where specifically should we start “digging”? Francis Collins in 2009 proposed a number of ideas for relevant projects that would strengthen our command of whole genome information: (1) creating a resource to give consumers a way to obtain objective information about the clinical validity and utility of genome analyses, and (2) expanding studies of gene-environment interactions.
Another shovel-ready task is to train more genetic counselors and clinical geneticists so that we’ll have the capacity to effectively communicate to patients and their doctors about the implications of individual whole genome sequences. Creating the decision support systems for these counselors, clinicians, and patients to help them interpret whole genome sequence data and to keep it up-to-date with latest scientific understanding is another area deserving of expanded funding.
The genetic testing industry has been under pressure lately from US government agencies. At the heart of this matter is ensuring accurate interpretation and communication of DNA test results to patients and medical personnel. Improved regulatory oversight, if done properly, could really help society realize the promise of genome-guided medicine. But regardless of how this industry and the underlying data are regulated, it doesn’t change the fact that we have tons of important work yet to do on the analysis side.
It is Omicia’s mission to focus on this analysis work and deliver more effective medically-relevant personal genome interpretation; to fill a much-needed niche by providing the expertise and services for clinicians to better understand how variations identified in personal whole genome sequences impact health conditions and predispositions.
Improvements in our ability to grok whole genome sequences of individuals will help move our healthcare industry in the direction it sorely needs to go: towards an emphasis on predictive, preventive, personalized healthcare and away from the reactive, one-size-fits all ”disease care” system we largely have now.