Board directs technical advisory committee to evaluate newborn screening for MLD after federal RUSP listing

The Washington State Board of Health directed staff to form a technical advisory committee (TAC) to evaluate newborn screening for metachromatic leukodystrophy (MLD) after receiving an updated petition and noting MLD’s federal RUSP listing.

Dean Sir of the MLD Foundation told the board the petition had been revised to address earlier concerns and that New York and Pennsylvania had begun universal screening. He emphasized that early detection matters because gene therapy is most effective before symptoms appear. DOH policy analyst Megan McCrillis summarized the condition and noted screening technology is compatible with Washington's lab workflows; she also said the FDA-approved gene therapy "is most effective when patients are identified before symptoms appear." (paraphrase from program materials.)

Rather than granting rulemaking now, the board voted to decline the petition for immediate rulemaking and asked staff to convene a TAC under the board's existing newborn screening process to perform an in-depth evidence review, examine system readiness and access, estimate costs, and report back with a recommendation. Board members emphasized equity considerations (disproportionate incidence in some populations), the high cost of gene therapy (materials presented estimated a multi-million-dollar one-time cost), and the need to assess whether Washington has or can access treatment centers in time frames required by early therapy.

What the TAC will do: Staff said the TAC will review screening analytics, clinical outcomes, confirmatory testing availability, treatment pathways (including gene therapy and stem-cell transplant), budget impacts, and equity concerns; it will gather clinical, payer and lived-experience input and produce a formal recommendation for the board.

Next steps and timing: Staff noted TAC scheduling depends on staff capacity and funding; the board asked staff to report timelines and resource needs. The board’s request places MLD evaluation into the formal newborn screening pipeline rather than immediate rulemaking.