Dataset Information

Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis.

ABSTRACT:

Background

Genetic testing in families with hereditary cancer enables identification of people most likely to benefit from intensive screening and preventive measures; however, the uptake of testing in relatives (known as cascade carrier testing) for hereditary colorectal cancer syndromes has been shown to be low. Our objective was to report rates of familial testing for hereditary colorectal cancer syndromes in a publicly funded hereditary cancer clinic in Canada.

Methods

A cross-sectional retrospective database review was used to determine testing uptake between 1997 and 2016 for families served by the provincial Hereditary Cancer Program for British Columbia and Yukon. Analyses were conducted for genes associated with syndromes with an increased risk for colorectal cancer, including Lynch syndrome (MLH1, MSH2, MSH6, PMS2 and EPCAM) and familial adenomatous polyposis (APC), and for additional moderate- to high-penetrance genes (STK11, TP53, SMAD4, MUTYH, PTEN and CHEK2). Descriptive statistics were used and all analyses were 2-tailed.

Results

The study cohort included 245 index patients, with carrier testing performed in 382 relatives. The mean age at family member testing was 41.2 years, and most (61.0%) of the family members who underwent testing were women. The median time between disclosure of index cases and their family member's results was 8.3 months. Among eligible first-degree relatives, 32.6% (268/821) underwent testing in BC. Of 67 cancer diagnoses in family members, most (62.7%) occurred before genetic testing.

Interpretation

A substantial proportion of people at risk for hereditary colorectal cancer do not undergo genetic testing. This gap highlights the need to explore barriers to testing and to consider interventions to promote uptake; more aggressive efforts by hereditary cancer programs are needed to reach this highest risk population.

SUBMITTER: Beard VK

PROVIDER: S-EPMC7588261 | biostudies-literature | 2020 Oct-Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis.

Beard Vivienne K VK Bedard Angela C AC Nuk Jennifer J Lee Petra W C PWC Hong Quan Q Bedard James E J JEJ Sun Sophie S Schrader Kasmintan A KA

CMAJ open 20201019 4

<h4>Background</h4>Genetic testing in families with hereditary cancer enables identification of people most likely to benefit from intensive screening and preventive measures; however, the uptake of testing in relatives (known as cascade carrier testing) for hereditary colorectal cancer syndromes has been shown to be low. Our objective was to report rates of familial testing for hereditary colorectal cancer syndromes in a publicly funded hereditary cancer clinic in Canada.<h4>Methods</h4>A cross ...[more]

PMID: 33077534

Similar Datasets

Project description:Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with constitutional mutations in a class of genes involved in DNA mismatch repair. We identified 32 kindreds, with germline mutations in one of three genes hMSH2, hMLH1 or hMSH6. In this study, we purposed to evaluate how many high-risk individuals in each family underwent genetic testing: moreover, we assessed how many mutation-positive unaffected individuals accepted colonoscopic surveillance and the main findings of the recommended follow-up. Families were identified through a population-based registry, or referred from other centres. Members of the families were invited for an education session with two members of the staff. When a kindred was consistent with HNPCC, neoplastic tissues were examined for microsatellite instability (MSI) and immunohistochemical expression of MSH2, MLH1 and MSH6 proteins. Moreover, constitutional mutations were searched by SSCP or direct sequencing of the whole genomic region. Of the 164 subjects assessed by genetic testing, 89 were gene carriers (66 affected - that is, with HNPCC-related cancer diagnosis - and 23 unaffected) and 75 tested negative. Among the 23 unaffected gene carriers, 18 (78.3%) underwent colonoscopy and four declined. On a total of 292 first degree at risk of cancer, 194 (66.4%) did not undergo genetic testing. The main reasons for this were: (a) difficulty to reach family members at risk, (b) lack of collaboration, (c) lack of interest in preventive medicine or 'fatalistic' attitude towards cancer occurrence. The number of colorectal lesions detected at endoscopy in gene carriers was significantly (P<0.01) higher than in controls (noncarriers). We conclude that a large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing, despite the benefits of molecular screening and endoscopic surveillance. This clearly indicates that there are still barriers to genetic testing in HNPCC, and that we are unable to provide adequate protection against cancer development in these families.

Project description:BackgroundThe evolving proportion of the population considered immunologically naive versus primed for more efficient immune memory response to SARS-CoV-2 has implications for risk assessment. We sought to chronicle vaccine- and infection-induced seroprevalence across the first 7 waves of the COVID-19 pandemic in British Columbia, Canada.MethodsDuring 8 cross-sectional serosurveys conducted between March 2020 and August 2022, we obtained anonymized residual sera from children and adults who attended an outpatient laboratory network in the Lower Mainland (Greater Vancouver and Fraser Valley). We used at least 3 immunoassays per serosurvey to detect SARS-CoV-2 spike and nucleocapsid antibodies. We assessed any seroprevalence (vaccineor infection-induced, or both), defined by positivity on any 2 assays, and infection-induced seroprevalence, also defined by dual-assay positivity but requiring both antinucleocapsid and antispike detection. We used estimates of infection-induced seroprevalence to explore underascertainment of infections by surveillance case reports.ResultsBy January 2021, we estimated that any seroprevalence remained less than 5%, increasing with vaccine rollout to 56% by May-June 2021, 83% by September-October 2021 and 95% by March 2022. Infection-induced seroprevalence remained less than 15% through September-October 2021, increasing across Omicron waves to 42% by March 2022 and 61% by July-August 2022. By August 2022, 70%-80% of children younger than 20 years and 60%-70% of adults aged 20-59 years had been infected, but fewer than half of adults aged 60 years and older had been infected. Compared with estimates of infection-induced seroprevalence, surveillance case reports underestimated infections 12-fold between September 2021 and March 2022 and 92-fold between March 2022 and August 2022.InterpretationBy August 2022, most children and adults younger than 60 years had evidence of both SARS-CoV-2 vaccination and infection. As previous evidence suggests that a history of both exposures may induce stronger, more durable hybrid immunity than either exposure alone, older adults - who have the lowest infection rates but highest risk of severe outcomes - continue to warrant prioritized vaccination.

Project description:IntroductionIncreased use of crystal methamphetamine ("crystal meth") has been observed across North America and international jurisdictions, including a notable increase in the presence of methamphetamines in illicit drug toxicity deaths in British Columbia (BC), Canada. We used data from a cross-sectional survey and urine toxicology screening to report the prevalence, correlates, and validity of self-reported crystal meth use among clients of harm reduction sites in BC.Materials and methodsSurvey data were collected from 1,107 participants across 25 communities in BC, through the 2018 and 2019 Harm Reduction Client Survey. We described reported substance use and used a multivariate logistic regression model to characterize crystal meth use. Urine samples provided by a subset of participants were used to derive validity of self-reported three-day crystal meth use compared to urine toxicology screening.ResultsExcluding tobacco, crystal meth was the most frequently reported substance used in the past three days in 2018 and 2019 (59.7% and 71.7%, respectively). Smoking was the dominant route of administration for crystal meth, crack, heroin, and fentanyl. Multivariate analysis determined significantly higher odds of crystal meth use among those who used opioids (Adjusted Odds Ratio [AOR] = 3.13), cannabis (AOR = 2.10), and alcohol (1.41), and among those who were not regularly housed (AOR = 2.08) and unemployed (AOR = 1.75). Age ≥50 was inversely associated with crystal meth use (AOR = 0.63). Sensitivity of self-reported crystal meth use was 86%, specificity was 86%, positive predictive value was 96%, and negative predictive value was 65%.ConclusionsCrystal meth was the most commonly used substance among clients of harm reduction sites in BC in 2018 and 2019, and was frequently used concurrently with opioids. Comparison to urine samples demonstrated high validity of self-reported crystal meth use. Understanding evolving patterns of substance use will be imperative in tailoring harm reduction and substance use services for individuals that use crystal meth.

Project description:IntroductionCanada and the United States continue to experience increasing overdose deaths attributed to highly toxic illicit substances, driven by fentanyl and its analogues. Many bystanders report being hesitant to call 9-1-1 at an overdose due to fears around police presence and arrests. In Canada, a federal law was enacted in 2017, the Good Samaritan Drug Overdose Act (GSDOA), to provide protection from simple drug possession and related charges when 9-1-1 is called to an overdose. There is limited evidence, however, that the GSDOA has improved rates of intention to call 9-1-1 at overdose events. We therefore sought to examine intent to call 9-1-1 among persons who received GSDOA education and were at risk of witnessing an overdose.MethodsA cross-sectional survey was conducted with people at risk of witnessing an overdose recruited at 19 Take Home Naloxone (THN) program sites across British Columbia as well as online through Foundry from October 2020 to April 2021. Descriptive statistics were used to examine intention to call 9-1-1 at future overdoses. Multivariable logistic regression models were built in hierarchical fashion to examine factors associated with intention to call 9-1-1.ResultsOverall, 89.6% (n = 404) of the eligible sample reported intention to call 9-1-1. In the multivariable model, factors positively associated with intention to call 9-1-1 included identifying as a cisgender woman (adjusted odds ratio [AOR]: 3.37; 95% CI: 1.19-9.50) and having previous GSDOA awareness ([AOR]: 4.16; 95% CI: 1.62-10.70). Having experienced a stimulant overdose in the past 6 months was negatively associated with intention to call 9-1-1 ([AOR]: 0.24; 95% CI: 0.09-0.65).ConclusionA small proportion of the respondents reported that, despite the enactment of GSDOA, they did not intend to call 9-1-1 and those who were aware of the act were more likely to report an intention to call at future overdose events. Increasing GSDOA awareness and/or additional interventions to support the aims of the GSDOA could address ongoing reluctance to seek emergency medical care by people who use drugs.

Project description:BackgroundThis study aimed to measure the income-related inequalities and inequities - the inequalities that remain after accounting for differences in health need - in expenditure on fully publicly covered (hospital and ambulatory) and partially publicly covered (prescription drugs) services for those in their last year of life in the province of British Columbia (B.C.), Canada. We focused on a decedent population for three reasons: to minimize unmeasured need differences among our cohort and therefore isolate income effects; to explore inequities for a high-spending window of health care use; and, because previous studies have found conflicting relationships between income and decedent health care spending, to further quantify this relationship.MethodsWe used linked administrative databases to describe spending on health services by income for all 58,820 deaths of B.C. residents 65 and older from 2004 to 2006. Regression analyses examined the association between income and health care spending, adjusting for age, sex, health status, cause of death, and other relevant factors. We then used concentration indexes to measure both inequalities and inequities separately for three key types of services. Analyses were also run separately for men and women.ResultsOn average, per capita expenditure on acute health care in the last year of life was $20,705 (CDN2006). In need-adjusted regression analyses, we found decedents in the highest income quintile had 11% lower hospital expenditures, 15% higher specialist expenditures and 23% higher prescription drug expenditures than decedents in the lowest income quintile. Concentration index analysis suggested that spending for all types of care was concentrated among those with higher income before adjusting for need. Need-adjusted equity results mirrored regression findings and suggested patterns of inequities that were more pronounced among male decedents than females.ConclusionsDespite the universal health care system in B.C., we found patterns of inequity in spending by income in the last year of life, even for fully publicly covered services. These results, parallel to relationships between income and spending from previous studies of the B.C. population, suggest persistent income-related inequities in the health care Canadians receive throughout their lives.

Dataset Information

Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis.

Background

Methods

Results

Interpretation

Publications

Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets