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April 16, 2014

Sickle Cell Trait—Neglected Opportunities in the Era of Genomic Medicine

Author Affiliations
  • 1Boston Combined Residency in Pediatrics, Boston Medical Center, and Boston Children’s Hospital, Boston, Massachusetts
  • 2Department of Pediatrics, Boston Medical Center and Boston University School of Medicine, Boston, Massachusetts
JAMA. 2014;311(15):1495-1496. doi:10.1001/jama.2014.2157

The use of genomics to prevent and treat disease is considered an important cornerstone for the future of health care. While the potential of genomics must be acknowledged, use of currently available scientific data and technical advances to reduce the burden of sickle cell disease (SCD), one of the most common serious single-gene disorders, is past due. However, any discussion of SCD must consider the historical context of race, inequalities in care,1 and previous concerns about authoritarian eugenics.2 The goal of this Viewpoint is to call attention to the unfulfilled promise of genetic screening to prevent SCD and to recommend necessary steps to realize this promise.