This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (... more This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials. This project aims to help programs develop policies that will aid in the integration of genomic technology. Discussion groups were conducted with the NBS Program and Laboratory Directors in the seven HRSA Regional Genomics Collaboratives (August 2014–March 2016). The discussion groups addressed expected uses of genomics, potential benefits, and challenges of integrating genomic technology, and educational needs for parents and other NBS stakeholders: Twelve focus groups were conducted, which included participants from over 40 state programs. Benefits of incorporating genomics included improving screening modalities, supporting diagnostic procedures, and screening for a wider spectrum of disorders. Challenges included the costs of genomics, the ability to educate parents and health care providers about results, and the potential negat...
INTRODUCTION/HYPOTHESIS: Food insecurity (FI) is the worry or inability of families to obtain eno... more INTRODUCTION/HYPOTHESIS: Food insecurity (FI) is the worry or inability of families to obtain enough food for everyone. FI is associated with worse health outcomes in children. While research on FI focuses on non-hospitalized children, the prevalence of FI in hospitalized children has been reported to be as high as 25%. There is little known about FI in critically ill children. We hypothesize that given the association of FI and worse health outcomes, there may be a higher prevalence of FI in the pediatric intensive care unit (PICU). The goal of this study is to characterize the prevalence of FI in the PICU. METHODS: This is a prospective cohort study of families admitted to an urban, quaternary care PICU during four-week enrollment periods in Fall 2020, Winter 2021, Spring 2021, and Summer 2021. English-speaking families of children under 18 years who had an unplanned admission to the PICU were approached for enrollment. Participants completed a brief survey including the USDA 18-item Food Security Supplement to explore depth of FI. RESULTS: 272 families were enrolled. 78 (28.7%) in the Fall, 68 (25%) in the Winter, 72 (26.5%) and 54 (19.9%) in the Summer. 47.7% (130) families self-identified as Black, 25% (68) White, 8.8% (24) Hispanic, 4.8% (13) Asian, 11% (30) multi-racial. Overall, 213 families (78.3%) were food secure and 59 families (21.7%) were food insecure. Of the food secure families, 32 (15%) experienced marginal food security. Of families experiencing FI, 35 (59.3%) had children experiencing child-level FI, 7 (12%) had children experiencing very low food security among children, and 24 (40.7%) experienced very low household food security. CONCLUSIONS: This is the first study describing prevalence and severity of FI in critically ill children. In 2019, only 13.6% of households with children reported FI and only 0.6% of households reported very low food security among children. While data on FI during the COVID-19 pandemic is pending, our study suggests that FI in our PICU may be higher than that of the general population and is similar to rates reported in hospitalized children. Notably, our data shows that over half of families experiencing FI experience child-level FI, and that the prevalence of very low food security in our population is higher than previously reported in the general population.
Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the ... more Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the development of a survey about parents’ NBS experiences, in the United States, informed by cognitive pretest interviews among parents with varying NBS test results (true-positive, false-positive, normal). Cognitive pretest interviews were conducted following a semi-structured script and notes were taken to identify problematic survey items. The study team met weekly to discuss pretest feedback, draft changes, and generate revised items. Pretests indicated that parent experiences with NBS are varied and NBS screening procedures are not well understood. Substantial modifications were made to survey questions concerning NBS testing and result communication. Pretesters often associated NBS with other tests/exams/scales—APGAR scores, Ages and Stages questionnaires, and genetic testing during pregnancy. Some pretesters recalled receiving NBS blood spot results during their hospital admission, a...
To investigate if a national pediatric primary care quality improvement collaborative (QIC) could... more To investigate if a national pediatric primary care quality improvement collaborative (QIC) could improve and sustain adherence with process measures related to diagnosis and management of children with genetic disorders. Thirteen practices in 11 states from the American Academy of Pediatrics' Quality Improvement Innovation Networks participated in a 6-month QIC that included regular educational opportunities, access to genetic professionals, and performance feedback. The QIC identified 11 aims related to improving diagnosis and management of children with genetic disorders. The practices evaluated adherence by reviewing patient records at baseline, monthly for 6 months (active improvement period), and then once 6 months after the QIC's conclusion to check for sustainability. Random intercept binomial regression models with practice level random intercepts were used to compare adherence over time for each aim. During the active improvement period, statistically significant i...
The family history has been called the first genetic test; it was a core element of primary care ... more The family history has been called the first genetic test; it was a core element of primary care long before the current wave of genetics technologies and services became clinically relevant. Risk assessment based on family history allows providers to personalize and prioritize health messages, shifts the focus of health care from treatment to prevention, and can empower individuals and families to be stewards of their own health. In a world of rising health care costs, the family history is an important tool, with its primary cost being the clinician’s time. However, a recent National Institutes of Health conference highlighted the lack of substantive evidence to support the clinical utility of family histories. Annual collection of a comprehensive 3-generation family history has been held up as the gold standard for practice. However, interval family histories targeted to symptoms and family histories tailored to a child’s life stage (ie, age-based health) may be important and und...
Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different o... more Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with this disorder.
necessarily represent the views of the Robert Wood Johnson Foundation or the University of Washin... more necessarily represent the views of the Robert Wood Johnson Foundation or the University of Washington. The RWJ Foundation provided salary support for Dr. Tarini. The RWJ Foundation did not have a role in the study’s design; collection, anal-ysis and interpretation of data; writing of the re-port; or decision to submit the article for publica-tion. Dr. Tarini wrote the first draft of the manuscript. All authors have seen and agree with the contents of this manuscript. Dr. Tarini had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. BACKGROUND: In the evaluation of infants with bronchiolitis there is little evidence to support the use of diagnostic testing, particularly complete blood counts (CBCs).
Background: In their landmark report on the “Principles and Practice of Screening for Disease” (1... more Background: In their landmark report on the “Principles and Practice of Screening for Disease” (1968), Wilson and Jungner noted that the practice of screening is just as important for securing beneficial outcomes and avoiding harms as the formulation of principles. Many jurisdictions have since established various kinds of “screening governance organizations” to provide oversight of screening practice. Yet to date there has been relatively little reflection on the nature and organization of screening governance itself, or on how different governance arrangements affect the way screening is implemented and perceived and the balance of benefits and harms it delivers. Methods: An international expert policy workshop convened by the three lead authors. Results: While effective governance is essential to promote beneficial screening practices and avoid attendant harms, screening governance organizations face enduring challenges. These challenges are social and ethical as much as technica...
This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (... more This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials. This project aims to help programs develop policies that will aid in the integration of genomic technology. Discussion groups were conducted with the NBS Program and Laboratory Directors in the seven HRSA Regional Genomics Collaboratives (August 2014–March 2016). The discussion groups addressed expected uses of genomics, potential benefits, and challenges of integrating genomic technology, and educational needs for parents and other NBS stakeholders: Twelve focus groups were conducted, which included participants from over 40 state programs. Benefits of incorporating genomics included improving screening modalities, supporting diagnostic procedures, and screening for a wider spectrum of disorders. Challenges included the costs of genomics, the ability to educate parents and health care providers about results, and the potential negat...
INTRODUCTION/HYPOTHESIS: Food insecurity (FI) is the worry or inability of families to obtain eno... more INTRODUCTION/HYPOTHESIS: Food insecurity (FI) is the worry or inability of families to obtain enough food for everyone. FI is associated with worse health outcomes in children. While research on FI focuses on non-hospitalized children, the prevalence of FI in hospitalized children has been reported to be as high as 25%. There is little known about FI in critically ill children. We hypothesize that given the association of FI and worse health outcomes, there may be a higher prevalence of FI in the pediatric intensive care unit (PICU). The goal of this study is to characterize the prevalence of FI in the PICU. METHODS: This is a prospective cohort study of families admitted to an urban, quaternary care PICU during four-week enrollment periods in Fall 2020, Winter 2021, Spring 2021, and Summer 2021. English-speaking families of children under 18 years who had an unplanned admission to the PICU were approached for enrollment. Participants completed a brief survey including the USDA 18-item Food Security Supplement to explore depth of FI. RESULTS: 272 families were enrolled. 78 (28.7%) in the Fall, 68 (25%) in the Winter, 72 (26.5%) and 54 (19.9%) in the Summer. 47.7% (130) families self-identified as Black, 25% (68) White, 8.8% (24) Hispanic, 4.8% (13) Asian, 11% (30) multi-racial. Overall, 213 families (78.3%) were food secure and 59 families (21.7%) were food insecure. Of the food secure families, 32 (15%) experienced marginal food security. Of families experiencing FI, 35 (59.3%) had children experiencing child-level FI, 7 (12%) had children experiencing very low food security among children, and 24 (40.7%) experienced very low household food security. CONCLUSIONS: This is the first study describing prevalence and severity of FI in critically ill children. In 2019, only 13.6% of households with children reported FI and only 0.6% of households reported very low food security among children. While data on FI during the COVID-19 pandemic is pending, our study suggests that FI in our PICU may be higher than that of the general population and is similar to rates reported in hospitalized children. Notably, our data shows that over half of families experiencing FI experience child-level FI, and that the prevalence of very low food security in our population is higher than previously reported in the general population.
Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the ... more Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the development of a survey about parents’ NBS experiences, in the United States, informed by cognitive pretest interviews among parents with varying NBS test results (true-positive, false-positive, normal). Cognitive pretest interviews were conducted following a semi-structured script and notes were taken to identify problematic survey items. The study team met weekly to discuss pretest feedback, draft changes, and generate revised items. Pretests indicated that parent experiences with NBS are varied and NBS screening procedures are not well understood. Substantial modifications were made to survey questions concerning NBS testing and result communication. Pretesters often associated NBS with other tests/exams/scales—APGAR scores, Ages and Stages questionnaires, and genetic testing during pregnancy. Some pretesters recalled receiving NBS blood spot results during their hospital admission, a...
To investigate if a national pediatric primary care quality improvement collaborative (QIC) could... more To investigate if a national pediatric primary care quality improvement collaborative (QIC) could improve and sustain adherence with process measures related to diagnosis and management of children with genetic disorders. Thirteen practices in 11 states from the American Academy of Pediatrics' Quality Improvement Innovation Networks participated in a 6-month QIC that included regular educational opportunities, access to genetic professionals, and performance feedback. The QIC identified 11 aims related to improving diagnosis and management of children with genetic disorders. The practices evaluated adherence by reviewing patient records at baseline, monthly for 6 months (active improvement period), and then once 6 months after the QIC's conclusion to check for sustainability. Random intercept binomial regression models with practice level random intercepts were used to compare adherence over time for each aim. During the active improvement period, statistically significant i...
The family history has been called the first genetic test; it was a core element of primary care ... more The family history has been called the first genetic test; it was a core element of primary care long before the current wave of genetics technologies and services became clinically relevant. Risk assessment based on family history allows providers to personalize and prioritize health messages, shifts the focus of health care from treatment to prevention, and can empower individuals and families to be stewards of their own health. In a world of rising health care costs, the family history is an important tool, with its primary cost being the clinician’s time. However, a recent National Institutes of Health conference highlighted the lack of substantive evidence to support the clinical utility of family histories. Annual collection of a comprehensive 3-generation family history has been held up as the gold standard for practice. However, interval family histories targeted to symptoms and family histories tailored to a child’s life stage (ie, age-based health) may be important and und...
Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different o... more Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with this disorder.
necessarily represent the views of the Robert Wood Johnson Foundation or the University of Washin... more necessarily represent the views of the Robert Wood Johnson Foundation or the University of Washington. The RWJ Foundation provided salary support for Dr. Tarini. The RWJ Foundation did not have a role in the study’s design; collection, anal-ysis and interpretation of data; writing of the re-port; or decision to submit the article for publica-tion. Dr. Tarini wrote the first draft of the manuscript. All authors have seen and agree with the contents of this manuscript. Dr. Tarini had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. BACKGROUND: In the evaluation of infants with bronchiolitis there is little evidence to support the use of diagnostic testing, particularly complete blood counts (CBCs).
Background: In their landmark report on the “Principles and Practice of Screening for Disease” (1... more Background: In their landmark report on the “Principles and Practice of Screening for Disease” (1968), Wilson and Jungner noted that the practice of screening is just as important for securing beneficial outcomes and avoiding harms as the formulation of principles. Many jurisdictions have since established various kinds of “screening governance organizations” to provide oversight of screening practice. Yet to date there has been relatively little reflection on the nature and organization of screening governance itself, or on how different governance arrangements affect the way screening is implemented and perceived and the balance of benefits and harms it delivers. Methods: An international expert policy workshop convened by the three lead authors. Results: While effective governance is essential to promote beneficial screening practices and avoid attendant harms, screening governance organizations face enduring challenges. These challenges are social and ethical as much as technica...
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