Senate committee advances bill to add Duchenne muscular dystrophy to Georgia newborn screening panel

The Senate Health Care Services Committee voted to advance Senate Bill 101, a proposal to add Duchenne muscular dystrophy to Georgia’s newborn screening panel, after testimony from clinicians, Department of Public Health officials and parents who said earlier diagnosis would permit earlier treatment and family planning.

Senator Randy Robertson, sponsor of the measure, told the committee that Duchenne is ‘‘100% fatal’’ without intervention and said adding the test would allow families to learn a diagnosis days after birth instead of years later. ‘‘We have the equipment. All we need is the permission,’’ Robertson said, urging the panel to approve the measure.

The measure would direct the department to promulgate rules creating a newborn screening system that includes screening for Duchenne muscular dystrophy. Megan Andrews, assistant commissioner for policy at the Georgia Department of Public Health, said DPH is not opposed to adding the condition but urged that it be considered through the state’s established clinical-review process. ‘‘Right now, the statutory process that is set up is that it’s supposed to go through this committee,’’ Andrews said, describing the advisory committee’s review criteria and the benefit of a pilot period that would allow the state to collect data and set up referral pathways.

DPH staff described how the state uses tiered testing: a first-tier screen done at the state lab after the newborn heel prick, second-tier confirmatory tests sometimes done in-house and third-tier tests referred to external labs such as Mayo Clinic. The agency told senators the lab performs more than 30 newborn screening tests already and that adding a condition can require new reagents, possible equipment changes and staff time. Andrews said the advisory committee has been studying Duchenne since spring of last year and was preparing to recommend a pilot that would screen every newborn for a limited period to gather follow-up and outcome data.

Pediatric neurologist Dr. Han Fan told the committee that Duchenne is typically diagnosed around age 4 and that newborn screening could identify roughly 35 infants annually in Georgia, given the state’s birth rate. ‘‘We now have gene therapy and other therapies that can change the course of the disease,’’ Fan said, noting earlier treatment can preserve mobility and extend life expectancy.

Two parents also testified. Ryan Salmon described having two sons with Duchenne and said early diagnosis allowed his younger son to receive gene therapy and better outcomes. ‘‘A simple prick, and we can know, and we can start treatment,’’ Salmon said.

Committee members asked about cost and logistics. Senator Robertson said the incremental cost per newborn test would be about $8 and that the one-time capital and build-out cost in the sponsor’s budget was roughly $752,454. The sponsor and several senators cited a very low false-positive rate reported by advocates; the exact false-positive figure was discussed in testimony as ‘‘0.08’’ or possibly ‘‘0.008’’ and a DPH official cautioned the committee that the advisory process examines test performance and follow-up resources.

After testimony and questions, a senator moved to pass the bill out of the committee; another senator seconded the motion. The committee voice vote recorded two members opposed and the chair said the bill ‘‘moves forward.’’ The committee indicated it would consider additional procedural steps and potential pilot language; DPH described a typical implementation timeline that can include a recommendation to the commissioner, budget appropriations and up to 18 months for lab build-out and referral contracting.

The committee said it expected to continue consideration at a subsequent meeting later this week.