Benefits and Burdens of Newborn Screening: Public Understanding and Decision-making

Stuart G Nicholls; Brenda J Wilson; Holly Etchegary; Jamie C Brehaut; Beth K Potter; Robin Hayeems; Pranesh Chakraborty; Jennifer Milburn; Daryl Pullman; Lesley Turner; June C Carroll


Personalized Medicine. 2014;11(6):593-607. 

In This Article

Conclusion & Future Perspective

The continued advancement of screening technology is likely to lead to the incorporation of WES or even WGS within newborn screening programs. The management of information generated by these technologies will likely be a focus of research and practice for the foreseeable future. We suspect that wholesale use of genome-level information will remain a promissory goal, but that barriers related to the capacity of healthcare systems – cost, data management, and clinical expertise – as well as patient limitations with respect to the amount of information that can be absorbed, will require the consolidation of information into packages, bins, or other more manageable forms. The practicalities of information management will influence the application of these technologies. We anticipate a concomitant move away from onerous specific consent approaches in which processes and results are provided in intimate detail, to more generic or broad consent approaches grounded in the types of information or general uses to which information and samples will be put.