Long-term follow-up in newborn screening: the role of collaboration

Wasserstein, Melissa P.

doi:10.1038/gim.2016.99

Cited by 8 publications

(7 citation statements)

References 4 publications

(3 reference statements)

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“…6 Le centre hospitalier universitaire Ste-Justine, Montreal, Quebec, Canada. 7 Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada. 8 Stollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada.…”

Section: Fundingmentioning

confidence: 99%

“…Because of these advances in care, patients with IMD have fewer severe sequelae, in turn reducing disease morbidity and increasing life expectancy [5]. In recognition of increased life expectancy among IMD patients, a current priority in IMD research is long-term follow-up of patients to generate high quality, longitudinal clinical data to evaluate outcomes and inform both clinical care and public policy [6,7].…”

mentioning

confidence: 99%

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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

Tingley¹,

Lamoureux²,

Pugliese³

et al. 2020

Orphanet J Rare Dis

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Background The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop evidence to improve health outcomes for children with inherited metabolic diseases (IMD). We describe the development of our clinical data collection platform, discuss our data quality management plan, and present the findings to date from our data quality assessment, highlighting key lessons that can serve as a resource for future clinical research initiatives relating to rare diseases. Methods At participating centres, children born from 2006 to 2015 who were diagnosed with one of 31 targeted IMD were eligible to participate in CIMDRN’s clinical research stream. For all participants, we collected a minimum data set that includes information about demographics and diagnosis. For children with five prioritized IMD, we collected longitudinal data including interventions, clinical outcomes, and indicators of disease management. The data quality management plan included: design of user-friendly and intuitive clinical data collection forms; validation measures at point of data entry, designed to minimize data entry errors; regular communications with each CIMDRN site; and routine review of aggregate data. Results As of June 2019, CIMDRN has enrolled 798 participants of whom 764 (96%) have complete minimum data set information. Results from our data quality assessment revealed that potential data quality issues were related to interpretation of definitions of some variables, participants who transferred care across institutions, and the organization of information within the patient charts (e.g., neuropsychological test results). Little information was missing regarding disease ascertainment and diagnosis (e.g., ascertainment method – 0% missing). Discussion Using several data quality management strategies, we have established a comprehensive clinical database that provides information about care and outcomes for Canadian children affected by IMD. We describe quality issues and lessons for consideration in future clinical research initiatives for rare diseases, including accurately accommodating different clinic workflows and balancing comprehensiveness of data collection with available resources. Integrating data collection within clinical care, leveraging electronic medical records, and implementing core outcome sets will be essential for achieving sustainability.

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Section: Fundingmentioning

confidence: 99%

mentioning

confidence: 99%

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

Tingley¹,

Lamoureux²,

Pugliese³

et al. 2020

Orphanet J Rare Dis

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“…Given the extreme rarity of these disorders, many conditions added to the NBS have limited data on long-term outcomes and efficacy of treatment and would be nearly impossible for individual states to determine. Collaboration between states and nations to track both short-term and long-term outcomes is critical for better understanding these disorders [ 33 , 34 ]. Successful long-term follow-up initiatives require coordinated efforts from multiple groups—including federal agencies, state health departments, academic institutions, primary care providers, and family support organizations [ 33 , 35 ].…”

Section: Discussionmentioning

confidence: 99%

“…Collaboration between states and nations to track both short-term and long-term outcomes is critical for better understanding these disorders [ 33 , 34 ]. Successful long-term follow-up initiatives require coordinated efforts from multiple groups—including federal agencies, state health departments, academic institutions, primary care providers, and family support organizations [ 33 , 35 ]. As NBS expands to include additional disorders, a redoubled effort for organized long-term follow-up should be considered.…”

Section: Discussionmentioning

confidence: 99%

Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI

Ames

Fisher

Kleyn

et al. 2020

IJNS

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Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened with variable practice in terms of primary and reflex analytes (either biochemical or molecular testing) as well as collection of short- and long-term follow-up elements. The goal of this study is to evaluate practices of state health departments in regards to screening methods and follow-up data collected. We conducted online surveys and phone questionnaires to determine each U.S. state’s practices for screening and follow-up of positive newborn screens. We report the first snapshot of practices for NBS for the LSDs included on the RUSP. All 50 U.S. states responded to our survey. The majority of U.S. states are not currently screening for Pompe disease and MPSI as of March 2020, but this number will increase to 38 states in the coming 1–3 years based on survey results. Our survey identifies data elements used by state health departments for short-and long-term follow-up that could serve as the basis of common elements for larger, public health-based analyses of the benefits and efficacy of screening for Pompe disease and MPSI.

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“…Importantly, the heterogeneity in phenotype and genotype-phenotype correlations of many NBS-related conditions (current and proposed) results in prognostic uncertainty which can impact the timespan of the diagnostic odyssey continuum. Long-term follow-up of NBS is key [ 22 , 23 ], yet notably lacking, and could improve understanding of a rare condition’s natural history [ 24 ]. This is particularly salient as NBS expansion with genomics accelerates and amplifies the need for shared decision-making [ 25 , 26 ] in care management given the level of uncertainty that will accompany the greater magnitude of conditions and carrier statuses identified.…”

Section: Introductionmentioning

confidence: 99%

Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs

Bush

Davidson

Gelles

et al. 2022

IJNS

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With the expansion of newborn screening conditions globally and the increased use of genomic technologies for early detection, there is a need for ethically nuanced policies to guide the future integration of ever-more comprehensive genomics into population-based newborn screening programs. In the current paper, we consider the lived experiences of 169 family caregivers caring for 77 children with NBS-related conditions to identify lessons learned that can inform policy and practice related to population-based newborn screening using genomic technologies. Based on caregiver narratives obtained through in-depth interviews, we identify themes characterizing these families’ diagnostic odyssey continuum, which fall within two domains: (1) medical management implications of a child diagnosed with an NBS-related condition and (2) psychological implications of a child diagnosed with an NBS-related condition. For Domain 1, family caregivers’ experiences point to the need for educational resources for both health care professionals that serve children with NBS-related conditions and their families; empowerment programs for family caregivers; training for providers in patient-centered communication; and access to multi-disciplinary specialists. For Domain 2, caregivers’ experiences suggest a need for access to continuous, long-term counseling resources; patient navigator resources; and peer support programs. These lessons learned can inform policy recommendations for the benefit of the child, the family, the healthcare system, and society.

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Long-term follow-up in newborn screening: the role of collaboration

Cited by 8 publications

References 4 publications

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI

Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs

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