What is a Phenotype?
The classic definition of a phenotype is the physical manifestation of genotype. However, with the increase knowledge of epigenetic, environmental and molecular alterations, the word phenotype has evolved and gained multiple definitions. The ability to develop genotypes of phenotypes on multiple levels – molecular, function, morphologic, or a combination of these three – facilitates personalized medicine.
One of the barriers to development of successful therapeutics is that many patients with common musculoskeletal symptoms (pain, immobility) from disparate diseases that have different mechanisms may be similarly treated, diluting the effectiveness of their treatment. The design and conduct of clinical trials requires optimized inclusion and exclusion criteria to select patients that share common pathophysiology responsive to the treatment tested, yet generalizable enough to implement in clinical practice.
At the other end of the spectrum of clinical research, the use of omics to understand molecular or genetic causes of diseases requires appropriate biospecimens for analysis. Starting with well-developed phenotypes will improve the ability to identify novel targets through omic technology that will have enhanced clinical applicability. Increasing the specificity of phenotypes is critical for precision medicine. If researchers cannot define the group of patients with a particular molecular or genetic cause of disease, then they cannot target that molecular or genetic mechanism. Big data, whether in the form of electronic health records, published literature, or omics databases is the foundation of well-defined phenotypes that allow the advancement of medical cures. he Indiana Center for Musculoskeletal Health Clinical Research Core leverage this data and campus resources to enhance clinical research in musculoskeletal disorders.