Genomic approaches are poised to revolutionize medicine by providing the basis for precision therapies and diagnostics, but it remains difficult and in many cases impossible to interpret genomic data without knowledge of the clinical situation. Phenomics is a new field that aims to collect, exchange, and analyze clinical phenotype data and integrate it into the clinical and translational assessment of genomics data. A critical challenge for genomic medicine is therefore to identify the genetic etiologies and environmental factors that underlie Mendelian disease, cancer, and common and complex diseases. However, interpretation of genomic data requires a fundamental understanding of phenotypic data, as well as new algorithms, tools, and data structures that can operate on them. Here, we propose to create the Forums For Integrative Phenomics (FFIP) to enable and accelerate scientific discoveries for maximizing use of phenotypic data across the translational landscape for improved patient care, and for precision medicine. FFIP events will governed by Phenopackets, a community-based organization with currently >400 members spanning diverse stakeholder groups whose vision is to develop and promote Open and Computable Knowledge-sharing Technologies designed for capturing, sharing, and exploiting structured bioinformatic phenotype knowledge. The FFIP events will enable phenomics researchers from different areas and roles in basic, clinical, and translational research to share their ideas, tools, algorithms and data in order to address these shared challenges. For each of three years, the FFIP will facilitate one annual meeting coupled with three community workshops and hackathons. All events will focus on state-of-the-art approaches for phenotype data analysis that complement and work synergistically with genomic analyses. FFIP events will facilitate the development of and training in emerging software and standards for Big Data in phenomics, and will foster collaboration amongst young researchers, underrepresented minorities, women, and those in less prominent or traditional research roles. A key theme will be transitioning from traditional, low-throughput methods of measuring and reporting phenotypes towards big-data approaches. The FFIP events will therefore enable participants to contribute to, access, integrate, and analyze diverse phenomic data that will enable diagnoses, treatment selection, and new discoveries.
There have been great advances in our ability to link genes with disease, but much of the data is fractured across different animal and human systems. The proposed Forums for Integrative Phenomics will bring together a diverse range of research scientists and clinicians to harmonize these data towards a better understanding of relationships between human disease conditions and their underlying genetic basis. The overarching goal is to create and disseminate new knowledge and tools that can enable precision diagnostics and treatments and yield new scientific and clinical breakthroughs.
