Unlocking Diagnosis With Deep Phenotyping: From Rare Diseases to Chronic Conditions

Within precision medicine, and specifically rare diseases, clinicians and researchers rely on genetic and diagnostic testing to help drive accurate diagnosis and treatment. However, genomic data alone are often insufficient to unlock the life-changing diagnoses of rare diseases. Well-curated and accurate phenotype data, which may include quantified observable traits such as short stature, low set ears, and blood biochemistry, along with genetic and diagnostic test results, are vital for shortening the diagnostic journey of these patients and identifying the most effective treatments available. The need for accurate patient phenotyping is not a new concept. In fact, over 20 years ago, Isaac Kohane, Chair of the Department of Biomedical Informatics and the Marion V. Nelson Professor of Biomedical Informatics at Harvard Medical School, predicted that the accurate practice of patient phenotyping would become essential as the volume of genomic information continued to surge.