Congenital Hypothyroidism Long‐Term Follow‐up Project: Navigating the Rough Waters of a Multi‐Center, Multi‐State Public Health Project

Abstract

The Region 4 Midwest Genetics Collaborative, made up of seven regional states (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, and Wisconsin), brought together pediatric endocrinologists, state laboratory experts, public health follow-up specialists, and parents of children with congenital hypothyroidism (CH) to identify the three-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists in the care of children diagnosed with CH by state newborn screening (NBS) programs. Among a number of challenges, each state had different NBS methods, data systems, public health laws, and institutional review board (IRB) requirements. Furthermore, the diagnosis of CH was complicated by the timing of the NBS sample, the gestational age, weight, and co-morbidities at delivery. There were 409 children with CH identified through NBS in 2007 in the seven state region. The clinician of record and the parents of these children were invited to participate in a voluntary survey. Approximately 64 % of clinician surveys were collected with responses to questions relating to treatment, monitoring practices, educational resources, genetic counseling, and services provided to children with confirmed CH and their families. Nearly one-quarter (24 %) of parents surveyed responded to questions relating to treatment, education, genetic counseling, resources, and services they received or would like to receive. De-identified data from six of the seven states were compiled for analysis, with one state being unable to obtain IRB approval within the study timeline. The data from this collaborative effort will improve state follow-up programs and aid in developing three-year follow-up guidelines for children diagnosed with CH. To aid in the facilitation of similar public health studies, this manuscript highlights the challenges faced, and focuses on the pathway to a successful multi-state public health endeavor.

Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results

“…A total of 409 children were identified in Region 4 as having been diagnosed with CH in 2007 [ 7 ]. The combined birth prevalence was 1:1836 ( Table 1 ).…”

“…In 2007, 409 children in our region were confirmed to have CH, indicating a birth prevalence of 1:1836 (range, 1:1472–2438). As noted in our previous report outlining the various logistical, regulatory, and legal challenges encountered during this study preparation and execution, we identified a number of methodologies and variables potentially influencing the state differences in birth prevalence [ 7 ]. These included state demographic differences, testing methods, and state-specific cutoff values, along with influences on diagnostic sensitivity, such as sample timing, gestational age, weight of the infant, use of certain therapies, such as blood products, and infant co-morbidities.…”

“…After obtaining Institutional Review Board (IRB) approval (SR-2012-067, 4-Jan-2012), the state laboratory and/or health department accessed its own records to identify children diagnosed with CH who met the inclusion criteria. As this was a survey study, direct medical records, including any confirmatory testing results, were not reviewed, and, thus, the diagnosis of CH was purely based on NBS records and survey responses [ 7 ].…”

“…The study was developed and executed under the guidance of Region 4 after IRB approval, and utilized the infrastructure provided by the HRSA grantee, the Michigan Public Health Institute (MPHI) [ 7 ]. The study was a basic survey collection with two mirrored surveys (one for clinicians and one for families) performed between 2012 and 2013.…”

“…In 2014, we reported on the variety of logistical, regulatory, and legal challenges that the CH Workgroup had to successfully overcome to complete the study as a potential roadmap for future multi-state public health efforts [ 7 ]. This present manuscript provides the results from our initiative, and reviews 3-year follow-up recommendations to improve child health outcomes for children diagnosed with CH.…”