Inside STAT: How the reference genome is undermining personalized medicine

HYACINTH EMPINADO/STAT

The human reference genome is the closest thing that genomics has to a dictionary. Scientists looking to find rare diseases, for instance, can check the sequence of a patient against what’s listed in the reference genome to see if there’s a match. But this guide was largely constructed using genomes from European descendants around Buffalo, N.Y., and falls short in many ways. These shortcomings are not just hampering the diagnosis of rare disorders and leading to missed mutations in non-Europeans, but also threatening the dream of genetically based personalized medicine. STAT’s Sharon Begley has the full story here.