February 28th is Rare Disease Day. It is a day where the realities of Rare Diseases need to be highlighted for all health industry stakeholders; to celebrate the progress that has been made as well as to inspire us for the challenges that lay ahead.

Genetic testing can prove to be a crucial element in clinical diagnosis as it offers critical insights that can help a clinician in managing, treating and even sometimes prevent an inherited condition. A specific diagnosis and treatment regimen can be determined once the clinician runs a specific array of genetic tests after knowing the detailed family history of the patient.