OKLAHOMA CITY (KFOR) – Health officials in the Sooner State say they are making changes to newborn screenings to better help the littlest Oklahomans.
The Oklahoma State Public Health Lab has announced there will be changes to its newborn screening processes with the addition of “second-tier” testing for potential out-of-range screens for the following genetic conditions: Lysosomal Storage disorders (LSDs), Pompe and Mucopolysaccharidosis type I (MPS I), as well as X-Linked Adrenoleukodystrophy (X-ALD).
Newborn screenings are required for every baby born in Oklahoma, to help identify opportunities for early identification and treatment of rare genetic conditions.
In a previous interview with KFOR, representatives from the state’s public health lab said as many as 50,000 newborn screening tests are done each year; department representatives also noted that “out of range or abnormal results does not mean that the child has [a specific] condition“.
In an Oklahoma Health Alert, obtained Monday by KFOR, the release notes that the addition of the second-tier testing provides “more specific screening results and reduces false positive rate[s]”.
Accordingly, Mayo Clinic Laboratories will perform the second-tier testing for the LSDs and PerkinElmer Genomics will perform the second-tier testing for X-ALD.
The news follows months of reporting by KFOR, which has documented the experiences of several families who have had problems with the false screenings, sometimes for life altering conditions.
Contradictions in prior state Public Health Lab testing led to a comprehensive review in 2021, according to the state agency.
In a previous email to KFOR following a request for additional information about out of range results, the Public Health Lab said that it “does not track false positives”:
The PHL does not track “false positives,” as the lab is not informed as to whether these disorders are confirmed in the newborn and they are not providing the confirmatory tests that are recommended.
Oklahoma State Department of Health
According to the notice, the turnaround time for the final NBS results may be affected.
However, no changes are expected in processes for submitters and no additional charges will be added to the newborn screening fee.
The Public Health Lab announced a new CLIA director in February, according to information provided to KFOR.
Rachel Lee, Ph.D., joined the PHL from the Texas Department of State Health Services in Austin, and currently serves as a member of the APHL Newborn Screening Committee and the APHL Newborn Screening Molecular Subcommittee.
