Renata Wrobel Folescu Cohen, Marcia Angélica B Valladares, Maria de Fátima Leite, Claudia Ribeiro, Dafne Dain Gandelman Horovitz, Tania Wrobel Folescu
{"title":"Cyanosis in Childhood: A Clue to Hepatopulmonary Syndrome Due to Portosystemic Shunt.","authors":"Renata Wrobel Folescu Cohen, Marcia Angélica B Valladares, Maria de Fátima Leite, Claudia Ribeiro, Dafne Dain Gandelman Horovitz, Tania Wrobel Folescu","doi":"10.1002/ppul.71412","DOIUrl":"10.1002/ppul.71412","url":null,"abstract":"","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71412"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145637418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Children with asthma account for a large share of pediatric pulmonology patients1 In this review, we highlight pediatric asthma studies published in 2024. After reviewing the collected articles for their potential clinical impact, the authors organized the final selections into thematic groups for reader orientation: Diagnosis and Monitoring, Treatment and Management, Environmental and Social Factors, Genetics and Biomarkers, and Innovative Programs and Health Policy. Given the extensive number of studies published on pediatric asthma and limitations of space, we acknowledge that not every study can be included in this review. We hope this review will spark discussions on current clinical practices, as well as inspire future research in pediatric asthma.
{"title":"Pediatric Pulmonology 2024 Year in Review: Asthma.","authors":"Andre Espaillat, Meera Jairath, Ceila E Loughlin","doi":"10.1002/ppul.71408","DOIUrl":"10.1002/ppul.71408","url":null,"abstract":"<p><p>Children with asthma account for a large share of pediatric pulmonology patients<sup>1</sup> In this review, we highlight pediatric asthma studies published in 2024. After reviewing the collected articles for their potential clinical impact, the authors organized the final selections into thematic groups for reader orientation: Diagnosis and Monitoring, Treatment and Management, Environmental and Social Factors, Genetics and Biomarkers, and Innovative Programs and Health Policy. Given the extensive number of studies published on pediatric asthma and limitations of space, we acknowledge that not every study can be included in this review. We hope this review will spark discussions on current clinical practices, as well as inspire future research in pediatric asthma.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71408"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145637507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Congenital Lobar Emphysema in the Right Upper Lobe Segment (S1 + 2) That Was Associated With Separate Branching of Right Upper Bronchus (B1 + 2, B3).","authors":"Shohei Takami, Hideyuki Yokokawa, Tomohiro Sunouchi, Rei Yoshida, Atsushi Nakao, Kazuko Obana, Yutaka Kanamori","doi":"10.1002/ppul.71407","DOIUrl":"10.1002/ppul.71407","url":null,"abstract":"","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71407"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145637488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: The Global Initiative for Asthma (GINA) and National Asthma Education and Prevention Program (NAEPP) both recommend a combination inhaled corticosteroid (ICS)/formoterol inhaler to replace short-acting beta-agonists (SABA) as the preferred reliever therapy for Steps 3 and 4 of their asthma treatment strategies (known as Single Maintenance and Reliever Therapy or SMART). The extent of adoption and factors influencing use among pediatric asthma specialists remain unclear.
Objective: To gain a better understanding of SMART prescribing practices and factors that facilitate or impede its use in the United States among pediatric asthma specialists.
Methods: An electronic survey on SMART knowledge and practices was distributed to pediatric pulmonology division directors for dissemination to pediatric asthma specialists in allergy and pulmonology divisions.
Results: Sixty-eight completed survey responses were received between March and October of 2024. All asthma specialists were familiar with SMART, and over 90% were comfortable with its implementation in pediatric asthma. However, there was wide variability in the percentage of patients advised to use their prescribed maintenance ICS/formoterol inhaler as a reliever that did not correlate with the comfort level of the clinician or years in clinical practice, but did correlate with the region of practice.
Conclusions: Despite GINA/NAEPP recommending SMART, there is substantial variation in its implementation among pediatric asthma specialists. Survey results indicate that pediatric asthma specialists are comfortable with its use, but that improvement in EMR efficiency and consistent insurance coverage are needed to increase SMART adoption.
{"title":"Barriers to Implementation of SMART: Views From Pediatric Asthma Specialists.","authors":"John Paul Jarczyk, Wayne J Morgan","doi":"10.1002/ppul.71427","DOIUrl":"10.1002/ppul.71427","url":null,"abstract":"<p><strong>Background: </strong>The Global Initiative for Asthma (GINA) and National Asthma Education and Prevention Program (NAEPP) both recommend a combination inhaled corticosteroid (ICS)/formoterol inhaler to replace short-acting beta-agonists (SABA) as the preferred reliever therapy for Steps 3 and 4 of their asthma treatment strategies (known as Single Maintenance and Reliever Therapy or SMART). The extent of adoption and factors influencing use among pediatric asthma specialists remain unclear.</p><p><strong>Objective: </strong>To gain a better understanding of SMART prescribing practices and factors that facilitate or impede its use in the United States among pediatric asthma specialists.</p><p><strong>Methods: </strong>An electronic survey on SMART knowledge and practices was distributed to pediatric pulmonology division directors for dissemination to pediatric asthma specialists in allergy and pulmonology divisions.</p><p><strong>Results: </strong>Sixty-eight completed survey responses were received between March and October of 2024. All asthma specialists were familiar with SMART, and over 90% were comfortable with its implementation in pediatric asthma. However, there was wide variability in the percentage of patients advised to use their prescribed maintenance ICS/formoterol inhaler as a reliever that did not correlate with the comfort level of the clinician or years in clinical practice, but did correlate with the region of practice.</p><p><strong>Conclusions: </strong>Despite GINA/NAEPP recommending SMART, there is substantial variation in its implementation among pediatric asthma specialists. Survey results indicate that pediatric asthma specialists are comfortable with its use, but that improvement in EMR efficiency and consistent insurance coverage are needed to increase SMART adoption.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71427"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145708576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Correction to \"Gina Versus Childhood Asthma Control Test (Cact), Asthma Control Test (Act), and Asthma Control Questionnaire (Acq) to Determine Asthma Control in Children\".","authors":"","doi":"10.1002/ppul.71431","DOIUrl":"10.1002/ppul.71431","url":null,"abstract":"","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71431"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145757199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yinying Qian, Eric Garshick, Emmanouil Galanakis, Eleni Michaelidou, Stefani Zembashi, Egli Costi, Antonis Michanikou, Paraskevi Kinni, Petros Koutrakis, Panayiotis K Yiallouros, Constantinos Pitsios
Background: The Eastern Mediterranean has climatic conditions that increase exposure to aeroallergens due to higher pollen counts and dust storms. The association of atopy with measures of respiratory health, including fractional exhaled nitric oxide (FeNO) and pulmonary function among asthmatic children during dust and pollen periods has not been assessed.
Objective: Examine the association between allergic sensitization and respiratory health in children with asthma during dust and pollen seasons in the Eastern Mediterranean.
Methods: We conducted an analysis of prospectively collected respiratory health data from schoolchildren with asthma in Cyprus and Crete-Greece during spring and fall of 2019 and 2021. Children were assessed 3 to 4 times over 4 months, including evaluation of allergic sensitization by skin prick tests (SPTs). Mixed effect models were applied, adjusting for potential confounders, including study year, location, weeks on study, age and sex.
Results: There were 131 children included (77 atopic and 54 non-atopic; mean (SD) age = 9.5 (1.6) years; 65% boys). Over the study period, atopic children exhibited 113.71% (95% CI: 68.08%, 171.73%) higher FeNO concentrations and reduced FEV1/FVC% (-2.62, 95% CI: -5.00, -0.24) compared to non-atopic children. FeNO concentrations were positively associated with the degree of sensitization, as reflected by sensitization to perennial aeroallergens and the number of positive SPT results.
Conclusion: Atopic children with asthma may experience greater morbidity compared to non-atopic children during dust and pollen periods. Given the long-range transport of desert dust, clinicians both within and beyond the Eastern Mediterranean should be aware of this health concern.
{"title":"Allergic Sensitization Worsens Respiratory Health in Children With Asthma During Dust and Pollen Periods.","authors":"Yinying Qian, Eric Garshick, Emmanouil Galanakis, Eleni Michaelidou, Stefani Zembashi, Egli Costi, Antonis Michanikou, Paraskevi Kinni, Petros Koutrakis, Panayiotis K Yiallouros, Constantinos Pitsios","doi":"10.1002/ppul.71428","DOIUrl":"10.1002/ppul.71428","url":null,"abstract":"<p><strong>Background: </strong>The Eastern Mediterranean has climatic conditions that increase exposure to aeroallergens due to higher pollen counts and dust storms. The association of atopy with measures of respiratory health, including fractional exhaled nitric oxide (FeNO) and pulmonary function among asthmatic children during dust and pollen periods has not been assessed.</p><p><strong>Objective: </strong>Examine the association between allergic sensitization and respiratory health in children with asthma during dust and pollen seasons in the Eastern Mediterranean.</p><p><strong>Methods: </strong>We conducted an analysis of prospectively collected respiratory health data from schoolchildren with asthma in Cyprus and Crete-Greece during spring and fall of 2019 and 2021. Children were assessed 3 to 4 times over 4 months, including evaluation of allergic sensitization by skin prick tests (SPTs). Mixed effect models were applied, adjusting for potential confounders, including study year, location, weeks on study, age and sex.</p><p><strong>Results: </strong>There were 131 children included (77 atopic and 54 non-atopic; mean (SD) age = 9.5 (1.6) years; 65% boys). Over the study period, atopic children exhibited 113.71% (95% CI: 68.08%, 171.73%) higher FeNO concentrations and reduced FEV<sub>1</sub>/FVC% (-2.62, 95% CI: -5.00, -0.24) compared to non-atopic children. FeNO concentrations were positively associated with the degree of sensitization, as reflected by sensitization to perennial aeroallergens and the number of positive SPT results.</p><p><strong>Conclusion: </strong>Atopic children with asthma may experience greater morbidity compared to non-atopic children during dust and pollen periods. Given the long-range transport of desert dust, clinicians both within and beyond the Eastern Mediterranean should be aware of this health concern.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71428"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12699182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145743829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Giovanna Culeddu, Sofia Cividini, Ian Sinha, Sarah Donegan, Katie Rose, Olivia Fulton, Stephen Turner, Catrin Tudur Smith, Dyfrig A Hughes
Introduction: There is uncertainty about the cost-effectiveness of treatment options for children and adolescents with uncontrolled asthma despite inhaled corticosteroid (ICS) treatment.
Methods: A Markov state-transition model was developed to simulate costs from the perspective of the National Health Service in the UK and health outcomes associated with low, medium and high dose ICS, ICS in combination with long-acting β2-adrenoceptor agonists (LABAs) or leukotriene receptor antagonists (LTRAs), and LTRA monotherapy. Healthcare resource use and health state utilities were identified from literature searches. Transition probabilities were derived from a systematic review and network meta-analysis. Total costs and quality-adjusted life years were computed, and incremental cost-effectiveness ratios estimated over a 1-year time horizon. Parameter, structural and probabilistic sensitivity analyses were performed.
Results: Compared with low-dose ICS, medium-dose ICS and ICS + LABA had incremental cost-effectiveness ratios of £255,555 and £304,956 per quality-adjusted life year gained, respectively. High-dose ICS, LTRA alone and in combination with ICS were dominated by alternatives which were less costly and associated with a greater number of quality-adjusted life years. The incremental cost-effectiveness ratio for medium-dose ICS reduced to £14,797 per quality-adjusted life year gained when the transition probabilities were increased to reflect a higher risk of asthma exacerbation. ICS + LABA became cost effective with a > 60% reduction in inhaler price.
Conclusions: Treatment escalation beyond low-dose ICS in children and adolescents with uncontrolled asthma may only be cost-effective in the UK if the prices of alternatives reduce or treatment is targeted to those at higher risk of asthma exacerbations.
{"title":"Cost-Effectiveness Analysis of Treatments for Children With Uncontrolled Asthma Symptoms Despite Inhaled Corticosteroids.","authors":"Giovanna Culeddu, Sofia Cividini, Ian Sinha, Sarah Donegan, Katie Rose, Olivia Fulton, Stephen Turner, Catrin Tudur Smith, Dyfrig A Hughes","doi":"10.1002/ppul.71414","DOIUrl":"10.1002/ppul.71414","url":null,"abstract":"<p><strong>Introduction: </strong>There is uncertainty about the cost-effectiveness of treatment options for children and adolescents with uncontrolled asthma despite inhaled corticosteroid (ICS) treatment.</p><p><strong>Methods: </strong>A Markov state-transition model was developed to simulate costs from the perspective of the National Health Service in the UK and health outcomes associated with low, medium and high dose ICS, ICS in combination with long-acting β<sub>2</sub>-adrenoceptor agonists (LABAs) or leukotriene receptor antagonists (LTRAs), and LTRA monotherapy. Healthcare resource use and health state utilities were identified from literature searches. Transition probabilities were derived from a systematic review and network meta-analysis. Total costs and quality-adjusted life years were computed, and incremental cost-effectiveness ratios estimated over a 1-year time horizon. Parameter, structural and probabilistic sensitivity analyses were performed.</p><p><strong>Results: </strong>Compared with low-dose ICS, medium-dose ICS and ICS + LABA had incremental cost-effectiveness ratios of £255,555 and £304,956 per quality-adjusted life year gained, respectively. High-dose ICS, LTRA alone and in combination with ICS were dominated by alternatives which were less costly and associated with a greater number of quality-adjusted life years. The incremental cost-effectiveness ratio for medium-dose ICS reduced to £14,797 per quality-adjusted life year gained when the transition probabilities were increased to reflect a higher risk of asthma exacerbation. ICS + LABA became cost effective with a > 60% reduction in inhaler price.</p><p><strong>Conclusions: </strong>Treatment escalation beyond low-dose ICS in children and adolescents with uncontrolled asthma may only be cost-effective in the UK if the prices of alternatives reduce or treatment is targeted to those at higher risk of asthma exacerbations.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71414"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12703566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145757186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lizbeth F Gomez, Jonathan J Szeto, Joshua K Radack, Nicolas P Novick-Goldstein, Kristan A Scott, Daria C Murosko, Kathleen A Gibbs, Ella Whitman, Jonathan C Levin, Scott A Lorch, Sara B DeMauro, Chén C Kenyon, Allan C Just, Heather H Burris, Timothy D Nelin
Objective: To examine whether exposure to fine particulate matter (PM2.5) during the first year after neonatal intensive care unit (NICU) discharge is associated with asthma by age 5 among infants with bronchopulmonary dysplasia (BPD).
Methods: We conducted a retrospective cohort study of 337 infants with BPD, born between 2010 and 2019, who survived to discharge with clinical follow-up in the Children's Hospital of Philadelphia Care Network through age 5. Daily residential census block group PM2.5 exposures were estimated using a spatiotemporal machine-learning model and averaged over the first year after NICU discharge. Modified Poisson regression models with robust standard errors quantified associations of PM2.5 with asthma by age 5, adjusting for neonatal clinical factors, insurance, neighborhood deprivation, and race/ethnicity.
Results: By age 5 years, 169 (50.1%) infants had an asthma diagnosis. Mean annual PM2.5 exposure was 8.8 µg/m3 (SD 1.1). Each 1 µg/m3 increment of PM2.5 was associated with higher asthma risk (unadjusted RR 1.14, 95% CI: 1.03-1.25; fully adjusted aRR 1.19, 95% CI: 1.03-1.37). Compared to the lowest exposure tertile (mean 7.6 µg/m3), adjusted rates of asthma tended to be higher as exposure increased: Tertile 2 (mean 8.7 µg/m3, aRR 1.31; 95% CI: 0.98-1.74), Tertile 3 (mean 10.0 µg/m3, aRR 1.68, 95% CI: 1.17-2.4).
Conclusions: Exposure to higher ambient PM2.5 in the year after NICU discharge was associated with asthma by age 5 among children with BPD. These findings highlight early-life air quality as a modifiable determinant of long-term respiratory outcomes in infants with BPD.
{"title":"Associations of Early Life Ambient PM<sub>2.5</sub> Exposure With Asthma Risk in a Cohort of Preterm Infants With Bronchopulmonary Dysplasia.","authors":"Lizbeth F Gomez, Jonathan J Szeto, Joshua K Radack, Nicolas P Novick-Goldstein, Kristan A Scott, Daria C Murosko, Kathleen A Gibbs, Ella Whitman, Jonathan C Levin, Scott A Lorch, Sara B DeMauro, Chén C Kenyon, Allan C Just, Heather H Burris, Timothy D Nelin","doi":"10.1002/ppul.71432","DOIUrl":"10.1002/ppul.71432","url":null,"abstract":"<p><strong>Objective: </strong>To examine whether exposure to fine particulate matter (PM<sub>2.5</sub>) during the first year after neonatal intensive care unit (NICU) discharge is associated with asthma by age 5 among infants with bronchopulmonary dysplasia (BPD).</p><p><strong>Methods: </strong>We conducted a retrospective cohort study of 337 infants with BPD, born between 2010 and 2019, who survived to discharge with clinical follow-up in the Children's Hospital of Philadelphia Care Network through age 5. Daily residential census block group PM<sub>2.5</sub> exposures were estimated using a spatiotemporal machine-learning model and averaged over the first year after NICU discharge. Modified Poisson regression models with robust standard errors quantified associations of PM2.5 with asthma by age 5, adjusting for neonatal clinical factors, insurance, neighborhood deprivation, and race/ethnicity.</p><p><strong>Results: </strong>By age 5 years, 169 (50.1%) infants had an asthma diagnosis. Mean annual PM<sub>2.5</sub> exposure was 8.8 µg/m<sup>3</sup> (SD 1.1). Each 1 µg/m<sup>3</sup> increment of PM<sub>2.5</sub> was associated with higher asthma risk (unadjusted RR 1.14, 95% CI: 1.03-1.25; fully adjusted aRR 1.19, 95% CI: 1.03-1.37). Compared to the lowest exposure tertile (mean 7.6 µg/m<sup>3</sup>), adjusted rates of asthma tended to be higher as exposure increased: Tertile 2 (mean 8.7 µg/m<sup>3</sup>, aRR 1.31; 95% CI: 0.98-1.74), Tertile 3 (mean 10.0 µg/m<sup>3</sup>, aRR 1.68, 95% CI: 1.17-2.4).</p><p><strong>Conclusions: </strong>Exposure to higher ambient PM<sub>2.5</sub> in the year after NICU discharge was associated with asthma by age 5 among children with BPD. These findings highlight early-life air quality as a modifiable determinant of long-term respiratory outcomes in infants with BPD.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71432"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12710147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145768609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Elinor Langfelder-Schwind, Melissa Basile, Rachel Moyal-Smith, Jennifer Polo, Molly A McGinniss, Jenna Petersen, Josua Talavera, Haylee Schwind, Richard B Parad, Karen S Raraigh
Introduction: Applications of genetic and genomic testing are increasing in clinical practice. However, access to genetic counselors (GCs), who can provide information and support to patients and providers, is limited and in high demand. We sought community feedback on a centralized cystic fibrosis-specific genetic counseling telehealth service (CFgc-T) as a novel, equitable solution.
Methods: We conducted virtual focus groups using semi-structured interview guides for service providers (GCs), referrers (CF center and newborn screening [NBS] program staff), consumers (people with CF [pwCF], their partners, parents of pwCF or positive CF NBS results), and payors. Transcripts were coded, deductive and inductive methods were used to identify core service model features, and the Consolidated Framework for Implementation Research (CFIR) guided assessment of barriers and facilitators to inform model design. We then prepared a video description of the CFgc-T model and sought feedback via survey from clinicians at 287 CF care centers and 52 consumers.
Results: Across 15 focus groups (n = 67 participants), experience with a GC (not necessarily CF-specific) varied. Referrers and providers supported CF-specific GC access, emphasizing the importance of scheduling flexibility, availability, and addressing systemic barriers (e.g., insurance, licensure, language). Consumers desired accurate, digestible information. Participants expressed concerns about discussing sensitive topics over telehealth, technology barriers, and cost; consumers were amenable to paying typical co-pays for valuable, accessible service. Additionally, 26 consumers and 67 clinicians provided feedback via survey. Overall, 58% of clinicians expressed interest in becoming a pilot site in a future implementation study, and 96% of consumers would refer family and friends to the CFgc-T service.
Conclusions: A centralized CFgc-T service staffed by GCs with CF expertise could improve equitable access to CF-specific genetic counseling and was viewed favorably by key community members. Telehealth delivery may help resolve workforce shortages in specialties where few GCs have relevant expertise, offering a scalable, equitable model for care.
{"title":"Increasing Access to Genetic Counselors With Disease-Specific Expertise: Development of a Centralized Cystic Fibrosis Genetic Counseling Telehealth Model.","authors":"Elinor Langfelder-Schwind, Melissa Basile, Rachel Moyal-Smith, Jennifer Polo, Molly A McGinniss, Jenna Petersen, Josua Talavera, Haylee Schwind, Richard B Parad, Karen S Raraigh","doi":"10.1002/ppul.71416","DOIUrl":"https://doi.org/10.1002/ppul.71416","url":null,"abstract":"<p><strong>Introduction: </strong>Applications of genetic and genomic testing are increasing in clinical practice. However, access to genetic counselors (GCs), who can provide information and support to patients and providers, is limited and in high demand. We sought community feedback on a centralized cystic fibrosis-specific genetic counseling telehealth service (CFgc-T) as a novel, equitable solution.</p><p><strong>Methods: </strong>We conducted virtual focus groups using semi-structured interview guides for service providers (GCs), referrers (CF center and newborn screening [NBS] program staff), consumers (people with CF [pwCF], their partners, parents of pwCF or positive CF NBS results), and payors. Transcripts were coded, deductive and inductive methods were used to identify core service model features, and the Consolidated Framework for Implementation Research (CFIR) guided assessment of barriers and facilitators to inform model design. We then prepared a video description of the CFgc-T model and sought feedback via survey from clinicians at 287 CF care centers and 52 consumers.</p><p><strong>Results: </strong>Across 15 focus groups (n = 67 participants), experience with a GC (not necessarily CF-specific) varied. Referrers and providers supported CF-specific GC access, emphasizing the importance of scheduling flexibility, availability, and addressing systemic barriers (e.g., insurance, licensure, language). Consumers desired accurate, digestible information. Participants expressed concerns about discussing sensitive topics over telehealth, technology barriers, and cost; consumers were amenable to paying typical co-pays for valuable, accessible service. Additionally, 26 consumers and 67 clinicians provided feedback via survey. Overall, 58% of clinicians expressed interest in becoming a pilot site in a future implementation study, and 96% of consumers would refer family and friends to the CFgc-T service.</p><p><strong>Conclusions: </strong>A centralized CFgc-T service staffed by GCs with CF expertise could improve equitable access to CF-specific genetic counseling and was viewed favorably by key community members. Telehealth delivery may help resolve workforce shortages in specialties where few GCs have relevant expertise, offering a scalable, equitable model for care.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"60 12","pages":"e71416"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145834577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}