NC Department of Health and Human Services statement on newborn screenings

The Department shares the same desire as parents and doctors to implement screening for these disorders as quickly as possible, but speed alone is not the sole ingredient to successful implementation. In fact, there are many components to standing-up screening for a new disorder.

The tests must be designed and implemented with a high degree of accuracy, be run on sophisticated machines, and overseen by highly specialized staff. And we must ensure that the full system of education, screening, follow-up, diagnostic testing, and care are in place before screening can begin.  All of these steps take time and careful preparation. That said, we are committed to implementing these tests quickly and accurately.  We owe that to our newborns and their families as both an early and correct diagnosis make a huge difference in responding to these rare disorders.

Of the three new disorders authorized by the General Assembly, states have the ability to pursue one of several implementation approaches. For Pompe and MPS-I, they can: (a) develop their own in-house protocol/standards; (b) use a recent, FDA-approved digital microfluidic platform; or (c) rely upon an FDA-approved tandem mass spectrometry platform. For X-ALD, the lab can use either an in-house, lab-developed test or a FDA-cleared test using tandem mass spectrometry.

Of the dozen and a half states that have implemented Pompe & MPS-I, a little over a half or 56% opted for the in-house, lab-developed tests and FDA assays (using a tandem mass spectrometer platform), and almost a quarter or 22% decided to pursue the digital microfluidic platform. We do not have data on the approach used by the remaining states.

North Carolina’s implementation timelines for Pompe, MPS-I and X-ALD are consistent with those of other states. Unlike routine laboratory tests which determine hemoglobin levels, white blood cell count and total cholesterol (and that can be done in a physician’s office or sent to commercial lab for overnight processing), the tests which comprise the newborn screening panel are extremely complex and technical in nature. They require specialized equipment, staffing and laboratory readiness. This is especially true for the three tests added to the panel last summer: Pompe, MPS-I and X-ALD.

It's also important to think of the Newborn Screening Program NOT as a series of screening tests, but as a system that includes education, screening, follow-up, diagnostic testing, and care, and that this entire system must be in place before screening can begin.

For states who have onboarded these three disorders, the median period of time from authorization to implementation was 26 months, each. The quickest onboarding occurred at 1 year, 4 months (for Pompe), 1 year 8 months (for MPS-I) and 1 year, 4 months (for X-ALD).

NC anticipates adding all three disorders by March 2020, if not sooner – slightly better than the nationwide median and towards the lower (and quicker) end of other state’s implementation timelines.

Should the state have collected the new, higher fee before the three new tests were implemented?

Doing so has had a positive impact on NC’s implementation timeline. The Newborn Screening Program has, for years, run a budgetary deficit because the fee had not kept pace with the cost of running the program. In Session Law 2018-5, the General Assembly increased the newborn screening fee from $44 to $128.  Of that new amount, $97 was earmarked to cover the existing costs of the program and to onboard the three new tests.

The difference of $31 ($128 less $97) was directed to be set aside in a non-reverting account, at the request of the General Assembly, to pay for the maintenance, repair and replacement of the equipment needed to run the newborn screenings. Because the General Assembly included the costs of the three new tests in the higher fee, the Newborn Screening Program was able to immediately begin their implementation efforts, including more quickly advertising for the additional staff, ordering and upfitting any new required equipment, etc. In the past, the Newborn Screening Program was not given access to these upfront financial resources and, instead, had to cobble together funds over time and across the State Lab and Division of Public Health. That approach resulted in a longer implementation timeline for new tests.