Barriers to reducing preoperative testing for low-risk surgical procedures: A qualitative assessment guided by the Theoretical Domains Framework.

INTRODUCTION: While numerous guidelines do not recommend preoperative tests for low risk patients undergoing low risk surgeries, they are often routinely performed. Canadian data suggests preoperative tests (e.g. ECGs and chest x-rays) preceded 17.9%-35.5% of low-risk procedures. Translating guidelines into clinical practice can be challenging and it is important to understand what is driving behaviour when developing interventions to change it. AIM: Thus, we completed a theory-based investigation of the perceived barriers and enablers to reducing unnecessary preoperative tests for low-risk surgical procedures in Newfoundland, Canada. METHOD: We used snowball sampling to recruit surgeons, anaesthesiologists, or preoperative clinic nurses. Interviews were conducted by two researchers using an interview guide with 31 questions based on the theoretical domains framework. Data was transcribed and coded into the 14 theoretical domains and then themes were identified for each domain. RESULTS: We interviewed 17 surgeons, anaesthesiologists, or preoperative clinic nurses with 1 to 34 years' experience. Overall, while respondents agreed with the guidelines they described several factors, across seven relevant theoretical domains, that influence whether tests are ordered. The most common included uncertainty about who is responsible for test ordering, inability to access patient records or to consult/communicate with colleagues about ordering decisions and worry about surgery delays/cancellation if tests are not ordered. Other factors included workplace norms that conflicted with guidelines and concerns about missing something serious or litigation. In terms of enablers, respondents believed that clear institutional guidelines including who is responsible for test ordering and information about the risk of missing something serious, supported by improved communication between those involved in the ordering process and periodic evaluation will reduce any unnecessary preoperative testing. CONCLUSION: These findings suggest that both health system and health provider factors need to be addressed in an intervention to reduce pre-operative testing.

Changing Health-Related Behaviors 4: Realizing Impact of Health Research Through Knowledge Translation.

Knowledge translation (KT) is critical to realizing real-world impacts from health research by reducing the amount of time it takes for evidence to inform practice. One way this is achieved is by engaging with knowledge users throughout the process to ensure that research responds to their needs. It is also important to share the study results in a way that is useful, accessible, and relevant to knowledge user groups. KT planning involves multiple categories described in templates that are available online and referenced in the text. Common knowledge translation challenges and suggested solutions, as well as real-world KT examples, are also provided.

Changing Health-Related Behaviors 3: Lessons from Implementation Science.

Health-related behavior change refers to a body of behavior change strategies that aim to align people's behavior with advances in evidence-based knowledge and decision-making. However, human behavior is complex, and changing it often requires a combination of strategies to be effective. The challenge is in choosing the combination of strategies that will work best. Implementation science, the study of behavior change, has rapidly expanded in recent years and has pioneered work in providing more transparent and theory-based methods for choosing and evaluating behavior change strategies. There are several models and frameworks that underlie the science of implementation, the most recent and comprehensive of which include the Implementation of Change Model, the COM-B (capability, motivation, and behavior) Model, and the Theoretical Domains Framework, as well as the behavior change techniques (BCTs) taxonomy. These models and frameworks can be applied to help support the development and evaluation of behavior change interventions. In this chapter, we will review the latest advances and lessons learned from implementation science as it applies to health-related behavior change.

Changing Health-Related Behaviours 5: On Interventions to Change Physician Behaviours.

In many countries, there is a large amount of public money spent on health care. Some patient tests and treatments are not only unnecessary but also may be harmful, leading health researchers to look for the most effective interventions to change physician behaviour. The purpose of this chapter is to describe some of the interventions used to modify physician behaviour and highlight their challenges observed in a Canadian provincial context. We begin with a brief description of the increasing interest in behaviour change interventions in recent years and their theoretical basis. We then describe several interventions used to change physician behaviour ranging from nudges to choice restriction and the available evidence on their effectiveness. We provide examples of interventions and their challenges as we've experienced them in our research program, Quality of Care NL. We conclude with a summary of what the evidence tells us about interventions to change physicians' behaviours.

Protocol for assessing the determinants of preoperative test-ordering behaviour for low-risk surgical procedures using a theoretically driven, qualitative design.

INTRODUCTION: Current evidence suggests that preoperative tests such as chest X-rays, electrocardiograms and baseline laboratory studies may not be useful for healthy patients undergoing low-risk surgical procedures. Routine preoperative testing for healthy patients having low-risk surgery is not a scientifically sound practice. In this study, we will interview healthcare providers working at medical facilities where low-risk surgical procedures are carried out. This will allow us to gain insight into the determinants of preoperative testing behaviours for healthy patients undergoing low-risk surgeries and their barriers and enablers to guideline adherence. METHODS AND ANALYSIS: We will use semistructured interviews with anaesthesiologists, surgeons and preadmission clinic nurses to assess the determinants of preoperative testing behaviours. The interview guide was designed around the Theoretical Domains Framework (TDF), developed specifically to determine the barriers and enablers to implementing evidence-based guidelines. Interviews will be audio-recorded, transcribed verbatim and coded according to the TDF. Key themes will be generated for each of the identified domains. ETHICS AND DISSEMINATION: We have received ethics approval from the Health Research Ethics Board in Newfoundland and Labrador (HREB #2018.190) for this study. The results of this work will be disseminated through a peer-reviewed publication, presentation at a healthcare forum and plain-language infographic summaries. Additionally, deidentified data collected and analysed for this study will be available for review from the corresponding author on reasonable request.

Sustainability of an Enhanced Recovery After Surgery initiative for elective colorectal resections in a community hospital.

Background: In March 2016, an Enhanced Recovery After Surgery (ERAS) initiative was implemented for all elective colorectal resections at an urban hospital in St. John's, Newfoundland and Labrador, Canada. An ERAS coordinator supervised and enforced guideline compliance for 6 months. The aim of this study was to evaluate the sustainability of the ERAS program after supervision of guideline compliance was eliminated. Methods: Patient outcomes and guideline compliance were compared between surgeries performed under standard practice (April 2014 to March 2015) and those performed during and after the implementation of the ERAS initiative (March 2016 to August 2016 was the implementation phase and September 2016 to February 2017 was the sustainability phase). Results: Hospital length of stay decreased from 7.26 days at baseline to 5.44 days during the implementation phase of the ERAS program (p < 0.001). There was no significant difference between length of stay at baseline and during the 6-month sustainability phase of the ERAS program (7.10 d). There were no significant differences in rates of readmission or mortality during and after implementation. Rate of ileus decreased significantly from 13.8% during the implementation phase to 4.6% during the sustainability phase (p = 0.036). Total guideline compliance increased from 52.2% at baseline to 80.7% during the implementation phase (p < 0.001), and decreased to 74.7% during the sustainability phase (p < 0.001). Adherence to postoperative guidelines regressed: 79.2% in the implementation phase and 68.6% in the sustainability phase (p < 0.001). Conclusion: La durée des séjours à l'hôpital a diminué après l'adoption du programme de RAAC, lorsque le coordonnateur du programme était présent. Les méthodes de maintien des lignes directrices après leur adoption seront cruciales au succès de programmes similaires à l'avenir.

Contexte: En mars 2016, une initiative de récupération améliorée après la chirurgie (RAAC) a été mise en place pour toutes les résections colorectales électives effectuées dans un hôpital urbain de St. John's, à Terre-Neuve-et-Labrador, au Canada. Un coordonnateur du projet de RAAC a supervisé l'application des directives pendant 6 mois. Cette étude visait à évaluer la viabilité du programme une fois que l'application des directives n'était plus surveillée. Méthodes: Nous avons comparé les issues pour les patients et le respect des directives pour les chirurgies réalisées selon les pratiques habituelles (avril 2014 à mars 2015) et pour celles réalisées pendant et après l'adoption du programme de RAAC (mars 2016 à août 2016 ­ mise en oeuvre ­ et septembre 2016 à février 2017 ­ évaluation de la viabilité). Résultats: La durée du séjour à l'hôpital est passée de 7,26 jours à 5,44 jours pendant la phase de mise en oeuvre du programme (p < 0,001). Il n'y avait pas de différence significative entre la durée du séjour au début du programme et pendant les 6 mois de la phase d'évaluation de la viabilité (7,10 jours). Les taux de réadmission et de mortalité avant et après la mise en place du programme n'ont pas changé de manière significative. Le taux d'iléus a connu une baisse significative, passant de 13,8 % pendant la phase de mise en oeuvre à 4,6 % pendant l'évaluation de la viabilité (p = 0,036). Le respect des directives est passé de 52,2 % au début de la mise en oeuvre à 80,7 % pendant cette même phase (p < 0,001), pour ensuite descendre à 74,7 % pendant la phase suivante (p < 0,001). Le respect de lignes directrices postopératoires a régressé : il était de 79,2 % pendant la phase de mise en oeuvre et de 68,6 % pendant la phase d'évaluation de la viabilité (p < 0,001). Conclusion: La durée des séjours à l'hôpital a augmenté après l'adoption du programme de RAAC, lorsque le coordonnateur du programme était présent. Les méthodes de maintien des lignes directrices après leur adoption seront cruciales au succès de programmes similaires à l'avenir.

Family physician referral rates for lumbar spine computed tomography in Newfoundland and Labrador: a cross-sectional analysis using routinely collected data.

BACKGROUND: Reducing computed tomography (CT) examinations of the lumbar spine is one of Choosing Wisely Canada's initial top 10 recommendations. This study's objective was to report the age- and-sex standardized rates of lumbar spine CT ordered by family physicians in 1 health region in Newfoundland and Labrador. METHODS: We conducted a retrospective study using local health data from Meditech, an electronic health record system, from 2013 to 2016 for the Eastern Health Region of Newfoundland and Labrador, the largest health region in the province. Records were included if the referral was for an adult aged 20 years or more, and CT was ordered by a family physician. Lumbar spine CT rates were contextualized with age- and sex-stratified estimates. Population estimates were provided by the Newfoundland and Labrador Centre for Health Information to calculate age- and sex-standardized rates per 100 000 people. We calculated rate ratios to test for statistical significance in differences in rates between years. RESULTS: A total of 14 370 records were examined. The age- and sex-standardized rates of lumbar spine CT per 100 000 were 1225 in 2013, 1393 in 2014, 1556 in 2015 and 1395 in 2016. The rate ratio was 1.137 (95% confidence interval [CI] 1.084-1.194) for the comparison between 2014 and 2013, 1.117 (95% CI 1.067-1.169) between 2015 and 2014, and 0.896 (95% CI 0.857-0.938) between 2016 and 2015. INTERPRETATION: The age- and sex-standardized rates suggest that there was a steady rate of lumbar spine CT examinations being ordered by family physicians in Newfoundland and Labrador in 2013-2016. Although all rate ratios were statistically significant, the magnitude of the difference between years is likely not clinically relevant. These rates are important because they serve as a benchmark for future initiatives to reduce unnecessary referrals for lumbar spine CT.

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.

BACKGROUND: Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2. METHODS: We report a sister and brother from Newfoundland, Canada with complex phenotypes. The sister was previously reported by Cullinane et al., 2011. We performed homozygosity mapping, next generation sequencing and conventional Sanger sequencing to identify mutations that cause the phenotype in this family. We have also summarized clinical data from 49 previously reported SCN4 cases with overlapping phenotypes and interpret the medical histories of these siblings in the context of the literature. RESULTS: The siblings' phenotype is due in part to a homozygous mutation in G6PC3, [c.829C > T, p.Gln277X]. Their ages are 38 and 37 years respectively and they are the oldest SCN4 patients published to date. Both presented with congenital neutropenia and later developed Crohn disease. We suggest that the latter is a previously unrecognized SCN4 manifestation and that not all affected individuals have an intellectual disability. The sister also has a homozygous mutation in SLC45A2, which explains her severe oculocutaneous hypopigmentation. Her brother carried one SLC45A2 mutation and was diagnosed with "partial OCA" in childhood. CONCLUSIONS: This family highlights that apparently novel syndromes can in fact be caused by two known autosomal recessive disorders.

A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.

BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is an adult-onset Idiopathic Interstitial Pneumonia (IIP) usually diagnosed between age 50 to 70 years. Individuals with Familial Pulmonary Fibrosis (FPF) have at least one affected first or second-degree relative and account for 0.5-20% of cases. METHODS: We ascertained and collected DNA samples from a large population-based cohort of IPF patients from Newfoundland, Canada. For each proband, a family history was documented and medical records were reviewed. Each proband was classified as familial (28 patients) or sporadic (50 patients) and all 78 probands were screened for variants in four highly penetrant, adult-onset PF genes (SFTPC, SFTPA2, TERT,TERC). RESULTS: Seventy-eight IPF probands were enrolled of whom 28 (35.9%) had a positive family history. These 28 familial patients led to the recruitment of an additional 49 affected relatives (total of 77 FPF patients). By age 60 years, 42% of the familial cohort had been diagnosed with PF compared with only 16% of the sporadic patient collection (χ2 = 8.77, p = 0.003). Mean age of diagnosis in the familial group was significantly younger than the sporadic group (61.4 years vs. 66.6 yrs, p = 0.012) with a wider age range of diagnosis (19-92 years compared with 47-82 years). Thirty-three of 77 (42.8%) FPF patients had a tissue diagnosis and all but five had usual interstitial pneumonia histology. Compared with other published case series, the familial IIP histologies were more homogeneous. Three of 28 familial probands (10.7%) and none of the 50 sporadic probands had pathogenic variants in the four genes tested. All three familial probands had mutations in TERT. Other phenotypes associated with telomerase deficiency were present in these families including cirrhosis, bone marrow hypoplasia and premature graying. Telomere length assays were performed on mutation carriers from two families and confirmed telomere-related deficiency. CONCLUSION: The proportion of familial cases in our cohort is higher than any previously reported estimate and we suggest that this is due to the fact that Newfoundland cohort is ethnically homogeneous and drawn from a founder population. In our patient collection, diagnosis with IPF prior to age 45 years predicted familial disease. In two of the three TERT mutation families, the pedigree appearance is consistent with genetic anticipation. In the other 25 FPF families negative for mutations in known PF genes, we did not identify other telomerase associated medical problems (bone marrow dysfunction, cirrhosis) and we hypothesize that there are novel PF genes segregating in our population.

Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.

A recent report detailed the occurrence of both somatic and constitutional variants in the GALNT12 gene, located at 9q22.33, in some colorectal cancer (CRC) patients. In this study, we investigate the occurrence of inherited deleterious variants in GALNT12 in 118 families referred to a cancer genetics clinic. We discovered two deleterious variants (c.907G>A (p.Asp303Asn); c.1187A>G (p.Tyr396Cys)) in 4/118 probands. The variants, which were not found in 149 control individuals (P = 0.0376), cosegregate with CRC and/or adenomatous polyps in other family members. The probability by chance that cosegregation of c.907G>A with CRC and/or adenomatous polyps occurred, in the two pedigrees combined, was 1.56%. Although this study does not provide irrefutable evidence that GALNT12 variants are highly penetrant alleles that predispose to CRC in the majority of unexplained hereditary CRC families, it does provide additional evidence to support an important role of these variants in a proportion of this considerable high-risk group.

High incidence of pediatric idiopathic epilepsy is associated with familial and autosomal dominant disease in Eastern Newfoundland.

PURPOSE: To describe the incidence and epidemiology of pediatric idiopathic epilepsy (IE) in Newfoundland and Labrador. METHODS: All children in Newfoundland and Labrador aged 0-15 years with IE were ascertained through the provincial neurology clinic at the Janeway Child Health Centre. Family history, medical history and blood samples were obtained from probands and relatives. Two genes, SCN1A and KCNQ2, were screened for mutations by direct sequencing. RESULTS: The mean annual incidence of IE for the population of children living in the Avalon region of Newfoundland from 2000 to 2004 was 107 per 100,000. This rate is approximately three-fold greater than rates reported in other developed countries. Of 117 families with IE eligible for study, 86 (74%) provided detailed pedigree data. Multiple different epilepsy phenotypes were identified. Fifty-five families (64%) had a positive family history. Eight of these had family histories compatible with autosomal dominant (AD) inheritance and these families lived in five different geographic isolates. DNA was obtained from 21 families (79 individuals). The two previously identified mutations in Newfoundland families with epilepsy were sequenced and excluded as pathogenic sites in all but one family which had a mutation in SCN1A. CONCLUSION: The incidence of IE is high in the Avalon Peninsula of Newfoundland and the rate of familial disease is high throughout the province of Newfoundland and Labrador. The distribution of familial and AD IE in different geographic isolates, together with the clinical heterogeneity of disease suggests substantial genetic heterogeneity. It is likely that other novel mutations will be identified in this population.

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.

PURPOSE: To describe the spectrum of clinical disease in a mutliplex family with an autosomal dominant form of generalized epilepsy with febrile seizures plus (GEFS+) and determine its genetic etiology. METHODS: Medical and family history was obtained on 11 clinically affected individuals and their relatives across three generations through medical chart review and home visits. A candidate gene approach including haplotype analysis and direct sequencing was used. RESULTS: An epilepsy-associated haplotype was identified on 2q24. Direct sequencing of the entire SCN1A gene identified seven sequence variants. However, only one of these, c.1162 T>C, was not found in population controls. This transition in exon 8 of SCN1A predicts a substitution (Y388H) of a highly conserved tyrosine residue in the loop between transmembrane segments S5 and S6 of the sodium channel protein (Na(v)1.1). Clinical features in mutation carriers of this novel missense mutation were highly variable, ranging from febrile seizures to severe refractory epilepsy. CONCLUSION: A novel missense mutation in the pore-forming region of the sodium channel gene SCN1A causes GEFS+ with a variable phenotype that includes mood and anxiety disorders, as well as ataxia, expanding the GEFS+ spectrum to include neuropsychiatric disease.