Clinical information can lead to finding a variant that might otherwise be missed
Feb 28, 2019

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.

> Download infographic (PDF)

This infographic gives concrete insights into how clinical information impacts successful genetic diagnostics.

Benefits of providing clinical information

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.

Last modified: October 30, 2020