Early successes in precision medicine have inspired widespread support for accelerating the transition from traditional one-size-fits-all therapeutics. In some areas, such as age-related macular degeneration, gene sequencing has identified previously unrecognized disease mechanisms and inspired development activity around new targets. In oncology, it has become commonplace to make treatment decisions informed by comparison of germ-line genomes and tumor genomes. In some indications, including cystic fibrosis, precision medicine has delivered markedly improved treatments for patients with specific mutations or SNPs.
The United States Precision Medicine Initiative will attempt to accelerate the transition to precision medicine through creation of a PMI Cohort Program. The participation of one million volunteers will enable faster identification of biomarkers associated with many diseases, leading to development of novel diagnostics and identification of novel targets for drug developers. The result will be improved diagnosis and treatment of patients in many indications.
Browsing SNPs in the Catalog of Genome-Wide Association Studies
Precision medicine was gathering pace before President Obama announced the Precision Medicine Initiative in his 2015 State of the Union address. To cite one example, NIH’s National Human Genome Research Institute and the European Molecular Biology Laboratory-European Bioinformatics Institute offer a Catalog of Genome Wide Association Studies (GWAS). The catalog provides an extensive collection of curated SNP trait associations and a color-coded diagram that enables exploration of SNP-trait associations at the click of a mouse. The image at right shows a small portion of the diagram. The orange dots in this snip represent SNPs associated with metabolic diseases, including multiple SNPs associated with type II diabetes mellitus, type I diabetes mellitus and metabolic syndrome. SNPedia is a less formal, uncurated complement that demonstrates broad and growing interest in precision medicine. Companies like 23andMe reflect the intense interest that many individuals have in learning about their own genetic makeup and potential health implications, perhaps sometimes alerting their physicians to the need for vigilance in relation to previously unknown risks.
The Precision Medicine Initiative Million Person Cohort and other projects will add many SNPs to the GWAS Catalog over the next decade. With the cost of sequencing a genome now less than $1000, private organizations, including drug developers, are doubtless well ahead of public efforts in understanding genomics in their areas of focus. Nongovernmental organizations such as the Personalized Medicine Coalition will also drive progress toward an era of better understanding of disease and the health status of every individual.
Health Decisions’ Commitment to Progress in Precision Medicine
Health Decisions has long been active in precision/personalized medicine, conducting clinical trials of targeted drugs and biologics and diagnostics that identify high-risk genotypes of HPV, DNA markers associated with colorectal neoplasia and biomarkers in a variety of other indications. Recently, we decided to emphasize our commitment to bringing a new generation of treatments and tools to patients and clinics around the world by joining the Personalized Medicine Coalition. We look forward to working with our new colleagues in the coalition, including some who are old friends. The coalition represents a broad spectrum of academic, industrial, patient, provider and payer communities. The breadth of the coalition reflects the reality that we are all in this scientific enterprise together. Regardless of what we contribute as organizations and individuals, we know that precision medicine will have profound effects on our individual health and well-being.
Precision Medicine vs. Personalized Medicine
We understand the desire to distinguish between medicines and treatment regimens created to address health issues in one individual (personalized medicines) and those created for populations that share a set of characteristics associated with a mechanism of disease (precision medicine). However, the two terms overwhelmingly represent the same science and the same goal of moving beyond one-size-fits-all medicine. We accept the two terms as synonymous in most circumstances. By any name, the Personalized Medicine Coalition is at the heart of precision medicine.