A pathogenic mutation or harmless variation? Detailed clinical information provided by the clinician can make all the difference in the interpretation.
Sometimes, a few sentences about the clinical history of the patient can make or break the case for the geneticist. The ordering clinician has an exceptional role in facilitating the interpretation process. At best, it is a clinician-lab partnership supporting the process of filtering down from 20,000–35,000 possible variants to 1–2 pathogenic variants that explain patient’s phenotype. However, with insufficient clinical information the same interpretation path might result into a negative or VUS (variant of uncertain significance) diagnosis.
This infographic gives concrete insights into how clinical information impacts successful genetic diagnostics:
To access a quick and easy roadmap to providing sufficient clinical information about your patient, read our previous interview with Professor Helena Kääriäinen (MD, PhD) and Blueprint Genetics’ Clinical Interpretation Team Leader Eveliina Salminen (MD, PhD) here.