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Supporters urge coverage of rapid whole-genome sequencing for critically ill MassHealth children

5463341 · July 15, 2025
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Summary

Clinical researchers, industry representatives and parents told the Joint Committee on Health Care Financing that reimbursing rapid whole genome sequencing for undiagnosed, critically ill MassHealth children could speed diagnosis, change treatment, and produce net cost savings for the health system.

Advocates, clinical researchers and industry representatives urged the Joint Committee on Health Care Financing to support H1368/S847, a proposal to make rapid whole genome sequencing (rWGS) a MassHealth-covered service for undiagnosed, critically ill children.

Tom Defai of Alexion AstraZeneca Rare Disease told the committee rapid sequencing can shorten diagnostic time "within days," allowing clinicians to tailor care for infants in neonatal and pediatric intensive care units. "Rare diseases are progressive and often fatal, and rapid diagnosis can mean the difference between life and death," Defai said.

Researchers described economic as well as clinical benefits. Tara Lavelle, a health economist at Tufts Medical Center, said trials and the NIH-funded Gemini study show near-term net savings and shorter hospital stays when rWGS is used early in hospitalization.…

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