Patient and Health Care Provider Needs and Preferences in Understanding Pharmacogenomic and Genomic Testing: A Meta-Data Analysis.

Tests that feature genomic indicators can now be used to guide the pharmacological treatment of patients. To better identify the needs and preferences of patients and health care providers in facilitating their understanding of information related to such pharmacogenomic tests (PGx), a review of literature on knowledge translation and health literacy in the context of testing was conducted. Using a grounded theory-based approach, a comparative analysis of data from 36 studies meeting the criteria for the meta-data analysis has revealed the recurrence of three principal themes: (a) knowledge and understanding of genetics and pharmacogenomics; (b) experiences with genetic, genomic, or PGx testing (decision about the test, information delivery, and understanding of test results); and (c) educational/informational resources. This synthesis sheds light on each theme from the standpoint of both patients and health care providers and suggests avenues in which to direct efforts to support the introduction of pharmacogenomic tests in current practice.

Knowledge and understanding of pharmacogenomic testing among patients and health care professionals: A scoping review.

OBJECTIVE: To support the introduction of pharmacogenomic tests in current practice, this study identifies the factors associated with a better understanding of the information related to genetic, genomic and/or pharmacogenomic tests by patients and health care professionals. METHODS: Following a scoping review methodology, a search for literature was conducted with keywords related to health literacy and knowledge translation in the context of pharmacogenomic tests. Since only 6 articles were identified, the context of genetic or genomic testing were added to the inclusion criteria, leading to 24 articles. RESULTS: Fourteen of the studies analyzed focused on genetic predictive, diagnostic or carrier tests, or concerned genetics in general, while ten addressed or included the use of pharmacogenomic tests. Demographic, individual, experiential and contextual factors were associated with a better understanding of the information related to genetic, genomic and/or pharmacogenomic tests among the targeted populations. RESEARCH IMPLICATIONS: Our review shows that there is currently little empirical research available to identify the factors to consider in order to develop educational tools and resources specific to pharmacogenomics. CONCLUSION: Expanding our review to include genetic and genomic testing factors can serve as a starting point for the evidence to be validated in future empirical research.

Inflammatory bowel disease patient perceptions of diagnostic and monitoring tests and procedures.

BACKGROUND: Inflammatory Bowel Disease (IBD) with its high incidence and prevalence rates in Canada generates a heavy burden of tests and procedures. The purpose of this study is to gain a better understanding of the transfer of information from physician to patient, as well as the patient understanding and perceptions about the tests and procedures that are ordered to them in the context of IBD diagnosis and monitoring. METHODS: An online questionnaire was completed by 210 IBD patients in Canada. Information on the five most-often used tests or procedures in IBD diagnosis/monitoring was collected. These include: general blood test, colonoscopy, colon biopsy, medical imaging and stool testing. RESULTS: The general blood test is both the most ordered and most refused tool. It is also the one with which patients are the least comfortable, the one that generates the least concern and the one about which physicians provide the least information. The stool test is the test/procedure with which patients are the most comfortable. Procedures raise more concerns among patients and physicians provide more information about why they are needed, their impact and the risks they present. Very little information is provided to patients about the risks of having false positives or negative tests. CONCLUSIONS: This study provides an initial understanding of patient perceptions, the transfer of information from a physician to a patient and a patient's understanding of the tests and procedures that will be required to treat IBD throughout what is a lifelong disease. The present study takes a first step in better understanding the acceptance of the test or procedure by IBD patients, which is essential for them to adhere to the monitoring process.

Patients' perception of their involvement in shared treatment decision making: Key factors in the treatment of inflammatory bowel disease.

OBJECTIVES: This study aims to characterize the relationships between the quality of the information given by the physician, the involvement of the patient in shared decision making (SDM), and outcomes in terms of satisfaction and anxiety pertaining to the treatment of inflammatory bowel disease (IBD). METHODS: A Web survey was conducted among 200 Canadian patients affected with IBD. The theoretical model of SDM was adjusted using path analysis. SAS software was used for all statistical analyses. RESULTS: The quality of the knowledge transfer between the physician and the patient is significantly associated with the components of SDM: information comprehension, patient involvement and decision certainty about the chosen treatment. In return, patient involvement in SDM is significantly associated with higher satisfaction and, as a result, lower anxiety as regards treatment selection. CONCLUSIONS: This study demonstrates the importance of involving patients in shared treatment decision making in the context of IBD. PRACTICE IMPLICATIONS: Understanding shared decision making may motivate patients to be more active in understanding the relevant information for treatment selection, as it is related to their level of satisfaction, anxiety and adherence to treatment. This relationship should encourage physicians to promote shared decision making.

Exploring the Use of a Participative Design in the Early Development of a Predictive Test: The Importance of Physician Involvement.

In this study, we contribute to the personalized medicine and health care management literature by developing and testing a new participative design approach. We propose that involving gastroenterologists in the development of a predictive test to assist them in their clinical decision-making process for the treatment of inflammatory bowel diseases will increase the likelihood of their acceptance of the innovation. Based on data obtained from 6 focus groups across Canada from a total of 28 physicians, analyses reveal that current tools do not enable discriminating between treatment options to find the best fit for each patient. Physicians expect a new predictive tool to have the capability of showing clear reliability and significant benefits for the patient, while being accessible in a timely manner that facilitates clinical decisions. Physicians also insist on their key role in the implementation process, hence confirming the relevance and importance of participative designs in personalized medicine.

Escherichia coli EAST1 toxin toxicity of variants 17-2 and O 42.

EAST1 (EnteroAggregative heat-Stable Toxin 1) is a 4.1kDa toxin that was first detected in the enteroaggregative Escherichia coli (EAEC) strain 17-2 (O3:H2) isolated from the stools of a Chilean child with diarrhoea. Accordingly, EAST1 is thought to play a role in the pathogenicity of EAEC. The goal of this study was to obtain purified biologically active forms of two EAST1 variants (17-2 and O 42). Purified toxin samples were treated with protein disulfide isomerase (PDI) to ascertain the integrity of the disulfide bridges. Since EAST1 is often compared to STa (heat-Stable Toxin a), both purified EAST1 variants were tested for biological activity using the suckling mouse assay, the reference test for STa. A positive gut to body (G/B) weight ratio was not observed for any of the EAST1 preparations tested, although STa was active. Exposure of the purified toxins to T84 cell monolayers, an epithelial cell line derived from a human colon carcinoma, in modified Ussing flux chambers resulted in a rapidly attained and prolonged increase in short circuit current, a sensitive measure of net ion transport. Responses to 17-2 and O 42 variants were comparable in magnitude and inhibitable by bumetanide and DASU-02, indicating net anion secretion. The results demonstrate that EAST1 toxin stimulates anion secretion by T84 cell monolayers and it is sustained for the duration of toxin exposure.

Presence of Escherichia coli carrying the EAST1 toxin gene in farm animals.

Enteroaggregative Escherichia coli (EAEC) heat-stable toxin 1 (EAST1) is a small toxin of proteic nature. The reference strain producing this toxin was originally detected in the stools of a diarrheic Chilean child. Today, we know that EAST1 is not solely associated with EAEC but also with many other diarrheic E. coli families. Some studies have established the role of EAST1 in human outbreaks of diarrhea. In addition, isolates from farm animals were shown, more recently, to carry the astA gene coding for EAST1. However, the relation between the presence of EAST1 and disease is not conclusive. In this article, the current state of the knowledge on the presence and probable role of EAST1 in farm animal diseases is reviewed and discussed.