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Board accepts TAC recommendation not to add BCKDK to newborn panel; adopts updated review criteria
Summary
The Washington State Board of Health accepted its newborn screening technical advisory committee's recommendation not to add BCKDK deficiency to the mandatory newborn screening panel and voted to adopt revised criteria the TAC will use for future condition reviews, including a new public-health-readiness item.
The Washington State Board of Health accepted a technical advisory committee recommendation not to add branched chain ketoacid dehydrogenase kinase (BCKDK) deficiency to Washington’s mandatory newborn screening panel and approved updated criteria the committee will use to evaluate future candidate conditions.
The board voted to accept the TAC recommendation after the newborn screening technical advisory committee reviewed limited evidence about BCKDK — a rare genetic disorder associated with epilepsy, autism and intellectual disability — and found insufficient data on screening test performance, diagnostic follow-up and outcomes to support adding it to the universal panel. The TAC and Department of Health staff told the board the condition has been reported in only about 20 people worldwide and no state is currently screening for it.
The TAC also asked the board to approve a revised set of criteria for evaluating candidate conditions. The board adopted the updates, which add guidance benchmarks for test sensitivity and specificity, clarify expectations for economic analyses, and create a new criterion (renamed by the board to “public health infrastructure readiness”) focused on whether newborn screening programs, laboratories and clinical systems can implement screening, reporting and follow-up within a reasonable timeframe.
During the board discussion, Department of Health newborn screening staff said the TAC could not produce a standard cost–benefit ratio for BCKDK because the published literature and real-world screening data are not sufficient. The TAC therefore recommended against adding BCKDK to the panel at this time; members asked that the condition be re-reviewed if more data appear.
Board members discussed next steps for other candidate conditions and the timing of TAC work. Vice Chair Kelly Oshiro and DOH staff emphasized that the revised criteria are intended to improve transparency and help the committee focus future reviews. The board instructed staff to incorporate the revised criteria into TAC procedures; the TAC plans to use them at its next meeting to evaluate other candidate conditions.
Votes and formal actions recorded at the meeting: the board voted to accept the TAC recommendation not to add BCKDK to the panel and separately voted to adopt the TAC’s updated criteria with the board amendment renaming criterion six to “public health infrastructure readiness.” Both motions passed on voice votes.
The board’s decision does not prevent clinicians from ordering targeted diagnostic testing when indicated; DOH and the TAC noted that clinicians can order confirmatory tests for specific infants based on family history or clinical signs.
