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Background The clinical utility of whole exome and genome sequencing is generally accepted in the diagnosis of rare diseases and in personalized approaches to cancer treatment [1–3]. However, the decreasing cost of these next generation sequencing technologies has contributed to their growing use across a variety of commercial, research and clinical settings [3].
Consent processes for newborn bloodspot screening (NBS) are variable, with a lack of descriptive research that depicts how the offer of NBS is made to parents. We explored the experience, in practice, of consent for NBS. Semistructured interviews in two Canadian provinces were held with: (1) parents of children offered NBS (n=32); and (2) health-care professionals involved in the NBS process (n=19).
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