Who's minding the shop? The role of Canadian research ethics boards in the creation and uses of registries and biobanks

Background  

The amount of research utilizing health information has increased dramatically over the last ten years. Many institutions have extensive biobank holdings collected over a number of years for clinical and teaching purposes, but are uncertain as to the proper circumstances in which to permit research uses of these samples. Research Ethics Boards (REBs) in Canada and elsewhere in the world are grappling with these issues, but lack clear guidance regarding their role in the creation of and access to registries and biobanks.     

A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data

Background  

In the studies of genomics, it is essential to select a small number of genes that are more significant than the others for the association studies of disease susceptibility. In this work, our goal was to compare computational tools with and without feature selection for predicting chronic fatigue syndrome (CFS) using genetic factors such as single nucleotide polymorphisms (SNPs).     

Multilevel analysis of systolic blood pressure and ACE gene I/D polymorphism in 438 Swedish families – a public health perspective

Background  

Individuals belonging to the same family share a number of genetic as well as environmental circumstances that may condition a common SBP level. Among the genetic factors, the angiotensin converting enzyme (ACE) gene I/D polymorphism appears as a possible candidate as it might influence both SBP and the pharmacological effect of ACE inhibitors. We aimed to combine genetic epidemiology with public health ideas concerning life-course and multilevel epidemiology in order to understand the role of familial factors regarding individual SBP.     

Sampling 'hard-to-reach' populations in health research: yield from a study targeting Americans living in Canada

Background  

Some populations targeted in survey research can be hard to reach, either because of lack of contact information, or non-existent databases to inform sampling. Here, we present a methodological "case-report" of the yield of a multi-step survey study assessing views on health care among American emigres to Canada, a hard-to-reach population.     

Is Canada ready for patient accessible electronic health records? A national scan

Background  

Access to personal health information through the electronic health record (EHR) is an innovative means to enable people to be active participants in their own health care. Currently this is not an available option for consumers of health. The absence of a key technology, the EHR, is a significant obstacle to providing patient accessible electronic records. To assess the readiness for the implementation and adoption of EHRs in Canada, a national scan was conducted to determine organizational readiness and willingness for patient accessible electronic records.     

SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis

Background  

We report our experience of selecting tag SNPs in 35 genes involved in iron metabolism in a cohort study seeking to discover genetic modifiers of hereditary hemochromatosis.     

Communicating genetic information: a difficult challenge for future pediatricians

Background  

The role of the pediatrician as genetic counselor is ideal because pediatricians have medical knowledge and experience with genetic disorders (e.g. Down syndrome). Moreover, pediatricians can provide comprehensive care in a medical home to patients with genetic disorders. However, changes in the curriculum of the pediatric resident are necessary to address the future challenges of effectively communicating genetic information to patients. The objective of this study was to explore these challenges and make recommendations for training to adequately prepare pediatricians for their future role as genetic counselors.     

Evaluation of resident attitudes and self-reported competencies in health advocacy

Background  

The CanMEDS Health Advocate role, one of seven roles mandated by the Royal College of Physicians and Surgeons Canada, pertains to a physician's responsibility to use their expertise and influence to advance the wellbeing of patients, communities, and populations. We conducted our study to examine resident attitudes and self-reported competencies related to health advocacy, due to limited information in the literature on this topic.     

Barriers and facilitators to recruitment of physicians and practices for primary care health services research at one centre

Background  

While some research has been conducted examining recruitment methods to engage physicians and practices in primary care research, further research is needed on recruitment methodology as it remains a recurrent challenge and plays a crucial role in primary care research. This paper reviews recruitment strategies, common challenges, and innovative practices from five recent primary care health services research studies in Ontario, Canada.     

Well-being in residency training: a survey examining resident physician satisfaction both within and outside of residency training and mental health in Alberta

Background  

Despite the critical importance of well-being during residency training, only a few Canadian studies have examined stress in residency and none have examined well-being resources. No recent studies have reported any significant concerns with respect to perceived stress levels in residency. We investigated the level of perceived stress, mental health and understanding and need for well-being resources among resident physicians in training programs in Alberta, Canada.     

Enhanced genetic maps from family-based disease studies: population-specific comparisons

Background  

Accurate genetic maps are required for successful and efficient linkage mapping of disease genes. However, most available genome-wide genetic maps were built using only small collections of pedigrees, and therefore have large sampling errors. A large set of genetic studies genotyped by the NHLBI Mammalian Genotyping Service (MGS) provide appropriate data for generating more accurate maps.     

Access to electronic health records by care setting and provider type: perceptions of cancer care providers in Ontario, Canada

Background  

The use of electronic health records (EHRs) to support the organization and delivery of healthcare is evolving rapidly. However, little is known regarding potential variation in access to EHRs by provider type or care setting. This paper reports on observed variation in the perceptions of access to EHRs by a wide range of cancer care providers covering diverse cancer care settings in Ontario, Canada.     

Exploring consumer and pharmacist views on the professional role of the pharmacist with respect to natural health products: a study of focus groups

Background  

Natural health products (NHPs) such as herbs, vitamins and homeopathic medicines, are currently available for sale in most Canadian pharmacies. However, most pharmacists report that they have limited knowledge about these products which have been regulated in Canada as a specific sub-category of drugs. In this paper, consumers' and practicing pharmacists' perceptions of pharmacists' professional responsibilities with respect to NHPs are examined.     

Autism genetic database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites

Background  

Autism is a highly heritable complex neurodevelopmental disorder, therefore identifying its genetic basis has been challenging. To date, numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism, but most discoveries either fail to be replicated or account for a small effect. Thus, in most cases the underlying causative genetic mechanisms are not fully understood. In the present work, the Autism Genetic Database (AGD) was developed as a literature-driven, web-based, and easy to access database designed with the aim of creating a comprehensive repository for all the currently reported genes and genomic copy number variations (CNVs) associated with autism in order to further facilitate the assessment of these autism susceptibility genetic factors.     

The use of Traditional Medicine by Ghanaians in Canada

Background  

Research into health and health-care seeking behaviour amongst immigrant populations suggests that culturally-based behaviours change over time towards those prevalent in the host culture. Such acculturation of immigrant groups occurs as part of the interaction of immigrants with mainstream culture. This study examined the acculturation of Ghanaian immigrants in Greater Toronto Area (Canada) focusing particularly on attitudes towards and usage of Ghanaian traditional medicine (TRM).     

Introducing genetic testing for cardiovascular disease in primary care: a qualitative study

Background

While primary care systematically offers conventional cardiovascular risk assessment, genetic tests for coronary heart disease (CHD) are increasingly commercially available to patients. It is unclear how individuals may respond to these new sources of risk information.

Aim

To explore how patients who have had a recent conventional cardiovascular risk assessment, perceive additional information from genetic testing for CHD.

Design and setting

Qualitative interview study in 12 practices in Nottinghamshire from both urban and rural settings.

Method

Interviews were conducted with 29 adults, who consented to genetic testing after having had a conventional cardiovascular risk assessment.

Results

Individuals’ principal motivation for genetic testing was their family history of CHD and a desire to convey the results to their children. After testing, however, there was limited recall of genetic test results and scepticism about the value of informing their children. Participants dealt with conflicting findings from the genetic test, family history, and conventional assessment by either focusing on genetic risk or environmental lifestyle factors. In some participants, genetic test results appeared to reinforce healthy behaviour but others were falsely reassured, despite having an ‘above-average’ conventional cardiovascular risk score.

Conclusion

Although genetic testing was acceptable, participants were unclear how to interpret genetic risk results. To facilitate healthy behaviour, health professionals should explore patients’ understanding of genetic test results in light of their family history and conventional risk assessment.     

Associations between genetic variations in the FURIN gene and hypertension

Background  

Hypertension is a complex disease influenced by multiple genetic and environmental factors. The Kazakh ethnic group is characterized by a relatively high prevalence of hypertension. Previous research indicates that the FURIN gene may play a pivotal role in the renin-angiotensin system and maintaining the sodium-electrolyte balance. Because these systems influence blood pressure regulation, we considered FURIN as a candidate gene for hypertension. The purpose of this study was to systematically investigate the association between genetic variations in the FURIN gene and essential hypertension in a Xinjiang Kazakh population.     

Consumers' use of web-based information and their decisions about multiplex genetic susceptibility testing

Background

Few data exist to inform concerns raised by online direct-to-consumer marketing of genetic susceptibility tests, such as those offered by commercial entities like 23andme, Navigenics, and DNA Direct. The Multiplex Initiative, a population-based study of healthy adults, provides the first opportunity to evaluate how use of a Web-based decision tool that conveyed information about a genetic susceptibility test influenced individuals’ test decisions.

Objective

To inform the ongoing debate over whether individuals offered genetic susceptibility testing without the involvement of a health care provider (eg, through direct-to-consumer testing) can make informed decisions about testing when guided by online decision aids.

Methods

Participants were 526 members of a large health maintenance organization aged 25 to 40 years old who visited a study website. Multivariate logistic regression models were tested to examine the association of website usage with downstream test decisions.

Results

Participants viewed an average of 2.9 of the 4 pages introducing the multiplex test, 2.2 of the 8 pages describing the health conditions, and 3.2 of the 15 pages describing the genes. For each page viewed, participants were more likely to describe their decision-making as easy (odds ratio [OR] 1.04, 95% confidence interval [CI] 1.01-1.07) and to decide to be tested (OR 1.08, 95% CI 1.05-1.11).

Conclusions

Healthy adults in this study perceived Web-based genomic information presented using evidence-based communications approaches to be helpful in supporting both decisions to test and not to test. Continued research is needed to ensure that these results generalize to target groups with lower literacy and less Internet savvy.     

Health status in patients at risk of inherited arrhythmias and sudden unexpected death compared to the general population

Background  

The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health among these individuals. The study compared health status among patients at risk of arrhythmia because of family history or clinical diagnosis of LQTS and HCM with reference health status scores of the general population.