Win-win: Summer QI programme for medical students.

BACKGROUND: Most undergraduate medical students (UMS) do not receive any formal exposure to quality improvement (QI) efforts in healthcare during the entirety of their undergraduate programme. This is despite the rising interest amongst UMS and the unique potential that UMS hold as an innovator unencumbered by previous biases. To explore this, we implemented an undergraduate training programme that provides experiential QI education. APPROACH: The 15-week Summer Healthcare Improvement Programme (SHIP) was established in 2017, supported by a regional physician QI leadership coalition, a QI consultant preceptor who is linked to both the local university and health organisation and an UMS leadership group. Students were assigned QI projects that were aligned with the health organisation's purpose and scope. Students co-led the project to completion with mentorship from both physician QI leaders, and residents. Student competencies were formatively assessed by completing QI activities and a programme survey. RESULTS: From 2017 to 2019, 19 students completed 22 QI projects, academic posters and publications, and all received QI certification. The majority (72%) of students felt involvement in SHIP increased their QI knowledge and skills, 90% believed SHIP would benefit their peers, and 71% of students felt it directly applied to their future careers. DISCUSSION: Benefits of the programme were threefold: provided students with early experiential QI exposure, provided student QI leaders who possess dedicated time and effort to complete projects over the summer months and provided a physician QI learning continuum implemented with minimal to no additional cost to either the university or health organisation.

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.

Whole genome sequence data for small pedigrees has been shown to provide sufficient information to resolve detailed haplotypes in small pedigrees. Using such information, recombinations can be mapped onto chromosomes, compared with the segregation of a disease of interest and used to filter genome sequence variants. We now show that relatively inexpensive SNP array data from small pedigrees can be used in a similar manner to provide a means of identifying regions of interest in exome sequencing projects. We demonstrate that in those situations where one can assume complete penetrance and parental DNA is available, SNP recombination mapping using Boolean logic identifies chromosomal regions identical to those detected by multipoint linkage using microsatellites but with much less computation. We further show that this approach is successful because the probability of a double crossover between informative SNP loci is negligible. Our observations provide a rationale for using SNP arrays and recombination mapping as a rapid and cost-effective means of incorporating chromosome segregation information into exome sequencing projects intended for disease-gene identification.

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.

Amelogenesis imperfectas (AI) are a group of inherited defects of dental enamel formation that show both clinical and genetic heterogeneity. Seven Turkish families segregating autosomal recessive AI (ARAI) were evaluated for evidence of a genetic etiology of AI for the seven major candidate gene loci (AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, and TUFT1). Dental and periodontal characteristics of the affected members of these families were also described. The mean scores of DMFS and dfs indices were 9.7 and 9.6, respectively. The mean PPD was 2.2 mm and the percentage of the sites with plaque and BOP were 87.8% and 72.4%, respectively. The exons and intron/exon junctions of the candidate genes were sequenced and no gene mutations were identified in any individuals. These findings support the existence of an additional gene(s) that are etiologic for ARAI in these families.