More Education, Training Needed to Better Incorporate Genome Sequencing for Precision Medicine in Rare Diseases

The future of precision medicine in rare diseases was explored in a new review published in Journal of Internal Medicine.

As DNA sequencing costs decrease, genomic sequencing is emerging as a primary method of precision diagnostics in rare diseases, the authors explained. In this setting, “molecular diagnoses reveal valuable information about the cause of symptoms, disease progression, familial risk, and in certain cases, unlock access to targeted therapies.”

Genome sequencing can also detect a wide range of genetic aberrations, including those in noncoding regions that yield data to be periodically reanalyzed in the future when new evidence emerges,...