In the loop: Primary care providers' role in newborn screening for cystic fibrosis

2014 ◽  
Vol 47 (15) ◽  
pp. 147-148
Author(s):  
Robin Z. Hayeems ◽  
Fiona A. Miller ◽  
Carolyn J. Barg ◽  
Yvonne Bombard ◽  
Peter Durie ◽  
...  
2014 ◽  
Vol 54 (1) ◽  
pp. 67-75 ◽  
Author(s):  
Caitlin Finan ◽  
Samya Z. Nasr ◽  
Erin Rothwell ◽  
Beth A. Tarini

2019 ◽  
Vol 5 (3) ◽  
pp. 25
Author(s):  
Deborah Badawi ◽  
Katharine Bisordi ◽  
Marilyn J. Timmel ◽  
Scott Sorongon ◽  
Erin Strovel

This demonstration project explored the feasibility of utilizing data from pediatric primary care providers to evaluate the long-term outcomes of children with disorders identified by newborn screening (NBS). Compliance with national guidelines for care and the morbidity for this population was also examined. Primary care practices were recruited and patients with sickle cell disease or who were deaf/hard of hearing were given the opportunity to enroll in the study. Data were collected on the quality of the medical home with practice data compared to family responses. Clinical outcomes for each patient were assessed by review of medical records and patient surveys. These data sources were compared to determine accuracy of primary care data, morbidity, and receipt of preventive care. Electronic data sharing was explored through transmission of Clinical Document Architecture (CDA) files. Care coordination was a challenge, even in highly accredited medical homes. Providers did not have complete information regarding clinical outcomes and children were not consistently receiving recommended preventive care. Electronic data sharing with public health departments encountered interface challenges. Primary care providers in the USA should not currently be used as a sole source to evaluate long-term outcomes of children with disorders identified by NBS.


Diagnostics ◽  
2020 ◽  
Vol 10 (7) ◽  
pp. 446 ◽  
Author(s):  
Giovanni Taccetti ◽  
Matteo Botti ◽  
Vito Terlizzi ◽  
Maria Chiara Cavicchi ◽  
Anna Silvia Neri ◽  
...  

Cystic fibrosis (CF) is a life-threatening and common genetic disorder. Cystic fibrosis newborn screening (CF NBS) has been implemented in many countries over the last 30 years, becoming a widely accepted public health strategy in economically developed countries. False-negative (FN) cases can occur after CF NBS, with the number depending on the method. We evaluated the delayed diagnosis of CF, identifying the patients who had false-negative CF NBS results over 26 years (1992–2018) in Tuscany, Italy. The introduction of DNA analysis to the newborn screening protocol improved the sensitivity of the test and reduced the FNs. Our experience showed that, overall, at least 8.7% of cases of CF received FNs (18 cases) and were diagnosed later, with an average age of 6.6 years (range: 4 months to 22 years). Respiratory symptoms and salt-loss syndrome (metabolic hypochloremic alkalosis) are suggestive symptoms of CF and were commons events in FN patients. In Tuscany, a region with a high CFTR allelic heterogeneity, the salt-loss syndrome was a common event in FNs. Therefore, we provided evidence to support the claim that the FN patients had CFTR mutations rarer compared with the true-positive cases. We underline the importance of vigilance toward clinical manifestations suggestive of CF on the part of the primary care providers and hospital physicians in a region with an efficient newborn screening program.


Crisis ◽  
2018 ◽  
Vol 39 (5) ◽  
pp. 397-405 ◽  
Author(s):  
Steven Vannoy ◽  
Mijung Park ◽  
Meredith R. Maroney ◽  
Jürgen Unützer ◽  
Ester Carolina Apesoa-Varano ◽  
...  

Abstract. Background: Suicide rates in older men are higher than in the general population, yet their utilization of mental health services is lower. Aims: This study aimed to describe: (a) what primary care providers (PCPs) can do to prevent late-life suicide, and (b) older men's attitudes toward discussing suicide with a PCP. Method: Thematic analysis of interviews focused on depression and suicide with 77 depressed, low-socioeconomic status, older men of Mexican origin, or US-born non-Hispanic whites recruited from primary care. Results: Several themes inhibiting suicide emerged: it is a problematic solution, due to religious prohibition, conflicts with self-image, the impact on others; and, lack of means/capacity. Three approaches to preventing suicide emerged: talking with them about depression, talking about the impact of their suicide on others, and encouraging them to be active. The vast majority, 98%, were open to such conversations. An unexpected theme spontaneously arose: "What prevents men from acting on suicidal thoughts?" Conclusion: Suicide is rarely discussed in primary care encounters in the context of depression treatment. Our study suggests that older men are likely to be open to discussing suicide with their PCP. We have identified several pragmatic approaches to assist clinicians in reducing older men's distress and preventing suicide.


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