Abstract
BackgroundNewborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments. Participants complete online profiles generating data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of life. Resources such as education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, and professional support tools are described. In addition, to examine the ability of NBS Connect to generate data that guides hypothesis-driven research, data pertaining to age at diagnosis, bone health, and skin conditions in individuals with PKU were assessed. The objective of this paper is to describe the development of NBS Connect and highlight its data, resources and research contributions.ResultsIn September 2016, NBS Connect had 442 registered participants: 314 (71%) individuals with PKU, 68 (15%) with MSUD, 20 (5%) with TYR, and 40 (9%) with other disorders on the NBS panel. Age at diagnosis was less than 4 weeks in 285 (89%) of 319 respondents to this question and between 1 month and 14 years in 29 (9%) individuals. Of 216 respondents with PKU, 33 (15%) had a DXA scan in the past year. Of 217 respondents with PKU, 99 (46%) reported at least one skin condition.ConclusionsNBS Connect was built and refined with feedback from all stakeholders, including individuals with inherited metabolic disorders. Based on patient-reported data, future studies can be initiated to test hypotheses such as the relationship between PKU and skin conditions. Patient registries like NBS Connect can inform hypothesis-driven research, contributing to knowledge generation and following the current trend in moving from traditional medicine towards evidence-based practice. NBS Connect will help clinicians understand long-term outcomes of rare disorders, contributing to better patient care and quality of life.
Highlights
Newborn Screening Newborn screening connect patient registry (Connect) (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel
As the number of individuals with disorders detected by NBS increases, the U.S Centers for Disease Control and Prevention (CDC) and the Health Resources and Services Administration (HRSA) have recognized the need for high-quality research and clinical expertise to maximize patient care [3]
NBS initiatives were formed such as the Southeast Regional Newborn Screening & Genetics Collaborative (SERC), established through HRSA
Summary
Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. Participants complete online profiles generating data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of life. Resources such as education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, and professional support tools are described. Developed and initiated in the United States during the 1960s with screening for Phenylketonuria (PKU),NBS has demonstrated its public health value by identifying thousands of infants with an expanding number of disorders [1]. As the number of individuals with disorders detected by NBS increases, the U.S Centers for Disease Control and Prevention (CDC) and the Health Resources and Services Administration (HRSA) have recognized the need for high-quality research and clinical expertise to maximize patient care [3]. The primary aims of SERC are to promote translation of healthcare research into practice and to improve care for individuals with heritable disorders in the southeast region of the United States [4]; we hope SERC activities have a national and global reach
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