Improvement in cystic fibrosis newborn screening program outcomes with genetic counseling via telemedicine.

INTRODUCTION: The Cystic Fibrosis Foundation (CF Foundation) recommends the provision of genetic counseling (GC) to help educate families and decrease anxiety around the cystic fibrosis (CF) newborn screening process. Unfortunately, access to genetic counselors is limited, especially for CF trained genetic counselors. We hypothesized that the GC process for families could be improved by utilizing telemedicine to leverage the availability of two dedicated, CF trained genetic counselors to provide access to GC for several CF centers. In addition, we hoped to demonstrate that use of trained CF genetic counselors, delivering GC via telemedicine at the time of sweat testing, would provide families with understanding of CF genetics as well as result in high satisfaction with the newborn screening process. METHODS: GC was provided by CF trained genetic counselors via telemedicine at the time of sweat testing. Following the counseling session, families were administered an anonymous written survey to evaluate their impression of the services provided. A subset of 50 families was recruited for an assessment of gained knowledge regarding CF genetics using the Ciske knowledge inventory. Using χ2  analysis, Ciske knowledge inventory data from our telemedicine GC families was compared to counseled and uncounseled Ciske historical controls. Lastly, in-depth interviews about the newborn screening process for CF were performed with 10 families and interviews were coded for emerging themes. RESULTS: During the 4 years of the study, 250 patients received GC. Overall comfort with the counseling rated 4.77 out of 5 using a Likert scale. After counseling by telemedicine, parents demonstrated improved understanding of the genetic implications of an abnormal CF newborn screen for their family, with 100% of families understanding that their child was a carrier for CF as compared to 97.2% of counseled (p = .023) and 78.5% of uncounseled (p = .0007) from Ciske historical controls. The study group also showed improvement in understanding of both parents possibly being carriers, with an 87.7% correct response rate compared to a 37.0% correct response rate in the counseled group (p < .0001) and a 35.4% correct response rate in the non-counseled group (p < .0001) from Ciske historical controls. Subgroup analysis at one site showed a significant increase in the number of infants with completed sweat tests from previous years (49% in 2013 vs. 80% in 2017 during the study, p < .0001). CONCLUSIONS: GC by telemedicine was well received by families and demonstrated improved family knowledge acquisition and understanding of CF as it related to risks for their child as well as identification of risks for other family members. Furthermore, in addition to an increase is those receiving GC, a subgroup analysis demonstrated a significant increase in the number of infants receiving sweat tests. This study demonstrates that GC via telemedicine for CF is feasible and demonstrates improvement in parent understanding of CF genetics. Furthermore, this method can be implemented effectively across a wide geographical area with a limited number of CF trained genetic counselors to improve access to care for patients and families.

Implementation of standardized asthma management programs in outpatient settings.

PURPOSE OF REVIEW: This article reviews new approaches, facilitators, barriers, and opportunities to increasing adoption of standardized asthma management programs in the outpatient care setting. RECENT FINDINGS: Primary care clinicians providing asthma care in the outpatient setting are challenged by the complexity of guidelines and want standardization of tools that are easy to use and that can be integrated within their practice's workflow. Programs that integrate clinical decision support tools within a practice's electronic health record and provide support from specialists may enhance uptake of asthma management programs in the outpatient setting and reduce asthma morbidity. Lack of an implementation science framework, consideration for organizational context, and clinician buy-in are recently recognized barriers to adoption of asthma programs and improved asthma outcomes. In addition, many of these interventions are labor intensive, costly, and may not be capable of wide dissemination because of the EHR interoperability problem. CONCLUSION: Programs that simplify the guidelines, integrate clinical decision support within the EHR, and ground their approach with an implementation science framework may improve the quality of asthma care provided in the outpatient setting.

Repeated hot water and steam disinfection of Pari LC Plus® nebulizers alter nebulizer output.

Currently, cystic fibrosis patients require daily nebulized treatments to achieve optimal lung health. Growth of pathogenic bacteria in patient nebulizers is well known, and disinfection guidelines have been established. In this short communication, we sought to discover what effect, if any, repeated nebulization/disinfection cycles had on nebulizer output. We nebulized saline repeatedly after exposure to boiling water, steam, and alcohol disinfection methods. While alcohol disinfection did not affect nebulizer output, boiling water and steam significantly decreased nebulizer output from baseline, 74.1 ±â€¯5.9% (p = 0.022) and steam 63.6 ±â€¯6.5% (p = 0.0048) after 60 cycles respectively. This decrease in nebulizer output could significantly increase the duration of nebulizer treatment time and negatively impact the burden of care on patients with cystic fibrosis.

An evaluation strategy for potential QTc prolongation with chronic azithromycin therapy in cystic fibrosis.

Chronic azithromycin therapy is recommended for CF patients with persistent Pseudomonas aeruginosa colonization. Other macrolide antibiotics have been reported to cause QT prolongation, but cardiac effects of azithromycin have not been studied in pediatric populations. We analyzed changes in QTc interval after starting chronic azithromycin in a pediatric CF population. Adolescent males showed increased QTc intervals after initiation of therapy. Given the possible effects of azithromycin on the QTc interval, particularly in patients predisposed to cardiac events, we suggest that the QTc interval of CF patients should be monitored throughout the course of chronic azithromycin.

Serial lung magnetic resonance imaging to monitor disease progression in a child with a diffuse alveolar hemorrhage syndrome.

Serial lung magnetic resonance imaging (MRI) was performed in a child with diffuse alveolar hemorrhage (DAH). To minimize radiation exposure with conventional serial chest computerized tomography (CT), serial MRIs of the lungs were used. This effectively monitored her disease process as well as detected acute hemorrhage after 5 years remission.

Clinical features cannot distinguish allergic from non-allergic asthma in children.

OBJECTIVE: Environmental allergens are a major trigger of asthma, but not all asthmatics are allergic. This study was designed to review clinical characteristics in children with allergic and non-allergic asthma, based on responsiveness to allergy skin tests, in order to identify a combination of features that could distinguish allergic from non-allergic asthma in children. METHODS: Medical records of 321 children who had allergy skin testing were reviewed, and demographic and clinical data were compared between allergic and non-allergic patients. RESULTS: Approximately two-thirds of the asthmatic children had at least one positive skin test. These allergic patients were more likely to have a history of eczema or Medicaid insurance, but these findings had poor predictive value. There was no difference between allergic patients and non-allergic patients in terms of family history of atopy or asthma, home tobacco smoke exposure, age of onset of asthma, gender, rate of obesity, or asthma severity. Among the allergic asthma patients, neither the number of positive skin tests nor specific individual allergic sensitivities correlated with age of onset of asthma or asthma severity. CONCLUSIONS: This study failed to identify any combination of features that could reliably distinguish allergic from non-allergic asthma in children. Thus, all children with asthma should undergo allergy testing in order to identify potential allergic triggers in allergic patients and to avoid the institution of unnecessary environmental control measures in non-allergic patients.

Improved pulmonary and growth outcomes in cystic fibrosis by newborn screening.

BACKGROUND: Newborn screening for cystic fibrosis (CF) is effective in improving long-term growth outcomes. However, there is conflicting evidence that early diagnosis maintains normal pulmonary function. Our goal was to determine if newborn screening results in improved longitudinal growth and maintenance of normal pulmonary function. METHODS: A retrospective study of individuals with CF born in Connecticut between 1983 and 1997 was conducted by medical record and CF Foundation Registry review. Growth, pulmonary function and bacterial acquisition/colonization data, from diagnosis through July 1, 2005, were compared in those diagnosed by newborn screen (n = 34) to those diagnosed by sweat test after symptom appearance (n = 21). RESULTS: Screened individuals demonstrated greater weight and height for age at diagnosis (P = 0.01 and 0.01) and through 15 years of age (P = 0.0002 and 0.01). Body mass index was higher in screened individuals (21 vs. 18 kg/m(2)) at 15 years of age (P = 0.01). At 15 years of age, screened individuals had a clinically higher forced expiratory volume in 1 second (FEV(1)) and forced vital capacity (FVC; 90% and 104% predicted) than non-screened individuals (74% and 91% predicted; P = 0.08 and 0.10). Over a 9-year period, from ages 6 to 15, percent predicted FEV(1) and FVC increased by 4% and 13% in screened individuals; and declined by 14% and 5% respectively in non-screened individuals (P = 0.01 and 0.02). Acquisition/colonization of Pseudomonas aeruginosa was similar between groups (P = 0.23). CONCLUSIONS: In this CF cohort, individuals diagnosed by newborn screening have improved growth and preservation of normal pulmonary function without increased risk of Pseudomonas aeruginosa colonization.