Will unanticipated genetic mutations lead to subsequent disease?

Science news

 ....Eventually, using an individual's genomic variants to predict and prevent future illness may become a routine part of health care. However, it remains to be seen whether identifying individuals with genetic mutations will result in sufficient clinical benefit to merit the risks and costs of downstream imaging studies or procedures. The authors caution that this study does not provide evidence that recognizing genetic mutations directly confers medical benefit. In seeking to explore the related question of clinical outcomes, Green and his team have also implemented a separate randomized clinical trial of medical sequencing called the MedSeq Project, and have organized a Consortium to track medical outcomes among any ostensibly healthy individuals who have been sequenced for predictive purposes.

Journal Reference:

1. P. Natarajan, N. B. Gold, A. G. Bick, H. McLaughlin, P. Kraft, H. L. Rehm, G. M. Peloso, J. G. Wilson, A. Correa, J. G. Seidman, C. E. Seidman, S. Kathiresan, R. C. Green. Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. Science Translational Medicine, 2016; 8 (364): 364ra151 DOI: 10.1126/scitranslmed.aag2367