Early last month, the first hard copy of The Journal of Precision Medicine arrived in mailboxes across the country. The first installment of the journal, which is intended to be distributed every other month, includes the following sections:Field Notes:Senior Editor Chris Anderson gives a roundup of recent developments in the field of precision medicineThis issue features a short review of the Allele Frequency Community, a coalition co-founded by 18 life science companies and academic institutions that seeks to create a large, accessible database of allele frequencies. Founding member and University of Washington professor of genome sciences Jay Shendure says, “Getting to the population sizes needed to define the allele frequencies of rare variants is something individual labs, institutions, or commercial entities can rarely achieve on their own. By combining data from many organizations, we can get far more sensitive measurements of allele frequencies. It’s something we can only do together.”Precision Tools:Reviews of the current tools and technologies that are enabling a deeper insight into the mechanism of various diseasesArticles, which are contributed by members of the precision medicine community, cover a range of topics such as data output design, predicting the future of precision medicine, and overcoming the barriers to widespread acceptance and application.SNPshOt:An examination of the advancement of new precision therapies driven by nascent technologies within an evolving area of scientific discoveryThe first promising technology up for discussion is blood-based biopsy. Blood-based biopsies, also known as liquid biopsies, analyze circulating tumor cells (CTCs), cell-free DNA (cfDNA), and other circulating analytes to aid in the detection of metastatic cancer, monitor the progress of ongoing treatment, screen patients for early stage detection, and obtain molecular signatures from otherwise inaccessible tumors. The advantage of this novel approach is the unprecedented access it offers from a cost, infrastructure, and biological perspective. Among the most promising near-term applications for this approach is in molecular profiling of tumors in lung cancer, where tumors are inaccessible for biopsy in ~20% of all cases. Long-term, the potential is even greater by allowing for early detection of tumors and longitudinal data to understand the evolving dynamics of different cancers. Ultimately, this technique will serve an integral role in selecting therapies with higher efficacy and allow for tailored approaches using personalized treatments.20/20:A conversation with a visionary about their career in science, their perspective on precision medicine, and their predictions for the futureThe first installment of this series features sequencing pioneer Craig Venter. Since the completion of the Human Genome Project, Venter has turned his attention to the J. Craig Venter Institute, a non-profit genomics research institution, and Synthetic Genomics, a company focused on designing synthetic organisms for applications ranging from biofuel production to terraforming Mars.Currently, Venter’s main focus is Human Longevity, Inc. Per the company’s mission statement, “HLI is building the world’s most comprehensive database on human genotypes and phenotypes to tackle the diseases associated with aging-related human biological decline,” with the ultimate goal being “to change the way medicine is practiced by furthering the shift to a preventive, genomic-based medicine model.”Says Venter of the endeavor, “Our goal is to build this large data base very quickly at a scale that is beyond what anybody else is even considering and applying these new computing technologies… Our first human genome took a hundred million dollars and [we got] just one… Now, each of the machines we have at Human Longevity is the equivalent of 13,050 complete Celera genome operations. We have 24 of these machines and we will be adding on.” That translates to a more than 300,000-fold increase in sequencing capacity in 15 years. It’s hard not to get the sense that we are on the cusp of great strides in human sequencing progress.Cognoscienti:Opinions from key opinion leaders in regulation, bioethics, health economics, policy, and educationThis issue’s opinion pieces focus on the value-of-information proposition of precision medicine, the future of accurate cancer treatment, the overabundance of precise data, and the clinical education gap in genomics. There is a common thread between “Precision & Accuracy: A Way Forward in Cancer Medicine” by Dr. Gillies McKenna and “Precision Medicine: Too Much Precision, Not Enough Medicine?” by Dr. David W. Moskowitz in that we have made leaps and bounds in understanding the underlying genetic components of cancer and complex non-Mendelian diseases, but the treatments for these diseases has not kept pace with the amount of information we have. Currently, ~95% of all pipeline cancer drugs fail at some stage of development, and even when new drugs or therapies are introduced, the resistance of the medical community to adopt new therapies further delays actual clinical utility until the treatment has consensus usage among physicians.Certainly, the future of precision medicine needs to focus not only on understanding the massive amounts of data we can now gather thanks to next-generation sequencing technologies, but understanding how to translate that data into clinical outcomes.The Journal is still finding its legs, but DeciBio is actively engaged with companies driving the shift towards precision medicine, and we are excited to see increased conversation in the space over the coming years.This issue of the journal is available online for free at http://www.thejournalofprecisionmedicine.com/Disclaimer: Some of the companies listed above may be DeciBio clients or customers.

Author: Anthony DeBenedetti, Analyst at DeciBio Consulting, LLCdebenedetti@decibio.comConnect with Anthony on LinkedIn