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January 09, 2020


A comparable bill in 2018 was H.R. 5026, Advancing Access to Personalized Medicine. The language in this Senate proposal has been altered in a small but very significant way. In 2018, H.R. 5026 provided whole genome sequencing (WGS) for Medicaid babies or children IN an intensive care unit "AND" was a specialist certifying they had a likely unknown genetic disease. This is reasonable; see Farnaes, WGS decreases infant morbidity in ICU's, 2018, NPJ Genomic Medicine 3:10.

A small change in the new language provides WGS testing for children in an ICU, "OR," with a likely genetic disease. The second clause in the new bill points to a broad range of children; it would include many children who need targeted, not WGS testing. There are also still gaps and undefined areas in whole exome/whole genome sequencing relative to targeted sequencing (e.g. Gotway, Clin Chem 66:199,2020).

Thanks Bruce for the insight. Do you think the mare targeted genetic analysis will be available for reimbursement using selective assessment of the data?

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