Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository

Abstract

BackgroundNewborn screening (NBS) aims to achieve early identification and treatment of affected infants prior to onset of symptoms. The timely completion of each step (i.e., specimen collection, transport, testing, result reporting), is critical for early diagnosis. Goals developed by the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) for NBS timeliness were adopted (time-critical results reported by five days of life, and non-time-critical results reported by day seven), and implemented into a multi-year quality improvement initiative (NewSTEPS 360) aimed to decrease the time to result reporting and intervention. MethodsThe NBS system from specimen collection through reporting of results was assessed (bloodspot specimen collection, specimen shipping, sample testing, and result reporting). Annual data from 25 participating NBS programs were analyzed; the medians (and interquartile range, IQR) of state-specific percent of specimens that met the goal are presented. ResultsThe percent of specimens collected before 48 hours of life increased from 95% (88-97%) in 2016 to 97% (IQR 92-98%) in 2018 for the 25 states, with 20 (80%) of programs collecting more than 90% of the specimens within 48 hours of birth. Approximately 41% (IQR 29-57%) of specimens were transported within one day of collection. Time-critical result reporting in the first five days of life improved from 49% (IQR 26-74%) in 2016 to 64% (42%-71%) PLOS ONEPLOS ONE | https://doi.

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

“…During the past 20 years, the list of screened disorders has been globally expanded, and newly added diseases with a short pre‐symptomatic window have led to an increased urgency to detect affected newborns as quickly as possible 26,27 . In the United States, the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (the ACHDNC) recommends a series of timeline activities related to newborn screening, resulting in the achievement of improved timelines, that is, time‐critical result reporting in the first 5 days of life was increased by 49% in 2016 to 64% in 2018 27 . In Sweden, the timing of the sampling was recently advanced from 72 to 120 h to 48 h after birth 9 .…”

“…26,27 In the United States, the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (the ACHDNC) recommends a series of timeline activities related to newborn screening, resulting in the achievement of improved timelines, that is, time-critical result reporting in the first 5 days of life was increased by 49% in 2016 to 64% in 2018. 27 In Sweden, the timing of the sampling was recently advanced from 72 to 120 h to 48 h after birth. 9 Nevertheless, the timeline of the screening programmes has regional disparities.…”

Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

“…It should be noted that 16 NBS programs have laboratories that are open five days a week, 26 are open six days a week, and 11 are open seven days a week. A recent publication found that laboratory operating hours are a critical factor associated with timeliness, and that infants receiving services independent of the day of the week they were born will show a reduced risk of tragic outcomes for their individual families [ 15 ].…”

“…This highlights the significant efforts of NBS programs to operate their testing facilities and release out of range results as rapidly as possible. Quality improvement efforts implemented throughout NBS processes in order to sustain and improve upon timeliness metrics include the following: providing education to submitters and courier services about the importance of timely collection and shipment of specimens, expanding operating hours, improving laboratory workflows, and improving health information technology infrastructure in order to better transmit laboratory orders and results [ 15 ].…”

Improving quality management of newborn screening in southwest China

“…The Association of Public Health Laboratories of the United States developed the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs) in 2012, to support NBS laboratory and follow-up systems in achieving quality improvement. 8 NewSTEPs has been proven to be successful in supporting data-driven outcome assessment and performance tracking 9 , 10 and provides a model for other countries in improving NBS quality.…”