Research team uses genomic testing broadly for rare diseases, improves patient care

A Mayo Clinic study published in Journal of Translational Medicine has evaluated the use of genomic testing broadly for rare diseases. With the increased use of genomic testing such as multi-gene panels, exome sequencing and genome sequencing in the past decade, there is a greater opportunity to better diagnose and treat patients with rare diseases. According to the National Institutes of Health, as many as 10,000 distinct rare diseases exist and an estimated 25-30 million Americans are affected by one of them.