Diagnostic delay in monogenic disease: A scoping review.

PURPOSE: Diagnostic delay in monogenic disease is reportedly common. We conducted a scoping review investigating variability in study design, results, and conclusions. METHODS: We searched the academic literature on January 17, 2023, for original peer reviewed journals and conference articles that quantified diagnostic delay in monogenic disease. We abstracted the reported diagnostic delay, relevant study design features, and definitions. RESULTS: Our search identified 259 articles quantifying diagnostic delay in 111 distinct monogenetic diseases. Median reported diagnostic delay for all studies collectively in monogenetic diseases was 5.0 years (IQR 2-10). There was major variation in the reported delay within individual monogenetic diseases. Shorter delay was associated with disorders of childhood metabolism, immunity, and development. The majority (67.6%) of articles that studied delay reported an improvement with calendar time. Study design and definitions of delay were highly heterogenous. Three gaps were identified: (1) no studies were conducted in the least developed countries, (2) delay has not been studied for the majority of known, or (3) most prevalent genetic diseases. CONCLUSION: Heterogenous study design and definitions of diagnostic delay inhibit comparison across studies. Future efforts should focus on standardizing delay measurements, while expanding the research to low-income countries.

An untapped resource? Opportunities for faculty-librarian collaboration to enhance drug information resource utilization in pharmacy education.

Background: Doctor of pharmacy educational accreditation standards state student pharmacists should be able to evaluate the scientific literature as well as critically analyze and apply information in answering drug information questions. Student pharmacists often struggle with identifying and using appropriate resources to answer medication-related questions. To ensure educational needs were met, a college of pharmacy hired a health sciences librarian to support the faculty and students. Case Presentation: The health sciences librarian collaborated with faculty and students throughout the doctor of pharmacy curriculum to identify and address any gaps related to appropriate drug resource utilization. Adding instruction time to the new student pharmacist orientation, coursework throughout the first year of the pharmacy program, and a two-semester evidence-based seminar course provided opportunities for the health sciences librarian to work with student pharmacists in the areas of library resource access, instruction on drug information resources, and evaluation of drug information found on the internet. Conclusion: The deliberate inclusion of a health sciences librarian into the doctor of pharmacy curriculum can benefit faculty and students. Opportunities for collaboration are available throughout the curriculum, such as providing instruction for database utilization and supporting the research activities of both faculty and student pharmacists.

Scholarship of Drug Information and Library Sciences Instruction in North American Pharmacy Education: A Systematic Review of English-Language Research.

OBJECTIVES: This study aimed to characterize the scholarship of teaching and learning specific to drug information and library sciences (DILS) in pharmacy education and provide a comprehensive, evidence-based resource for faculty, detailing published practices for content delivery and scholarly research gaps. FINDINGS: Systematic searches of PubMed, Embase, International Pharmaceutical Abstracts, Educational Resources Information Center, Scopus, Library Literature & Information Science Full Text, and Library, Information Science & Technology Abstracts were conducted from January 1997 through early February 2022. Included studies were published in English, involved DILS content, were specific to pharmacy education, were original research, and were conducted in North America. The review excluded abstract-only records and studies that did not include learners (ie, pharmacy students and residents) as participants. Duplicate records were removed. After screening and review, 166 articles met the eligibility criteria, 60% of which (n = 100/166) were published in the last 10 years. Most studies focused on literature evaluation (45/166, 27%), fundamentals of drug information (43/166, 25%), evidence-based medicine (21/166, 13%), and resource utilization (21/166, 13%). Studied learners were mainly pharmacy students (77%), and 82% of research included authors who were pharmacists, whereas 14% included librarians. Assessment techniques used primarily focused on student perception (61/166, 37%), followed by summative assessment (46/166, 28%), other (25/166, 15%), and formative assessment (18/166, 11%). SUMMARY: This article presents a systematically identified collection of North American literature examining the education in DILS of pharmacy learners. Areas for continued research of DILS content include evaluating underrepresented educational domains (ie, systematic approach, response development and provision, literature searching, study design), using librarians more in scholarship of teaching and learning research, and using formative and summative assessments as outcomes.