Moving towards the implementation of pharmacogenetic testing in Quebec.

Clinical implementation of pharmacogenetics (PGx) into routine care will elevate the current paradigm of treatment decisions. However, while PGx tests are increasingly becoming reliable and affordable, several barriers have limited their widespread usage in Canada. Globally, over ninety successful PGx implementors can serve as models. The purpose of this paper is to outline the PGx implementation barriers documented in Quebec (Canada) to suggest efficient solutions based on existing PGx clinics and propose an adapted clinical implementation model. We conclude that the province of Quebec is ready to implement PGx.

Family planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals.

OBJECTIVE: Carrier couples of recessive diseases face an important decision-making process regarding their familial planning that can become a significant source of discomfort and potential regrets. To date, no study has described the decisional needs of carrier couples of Leigh syndrome French-Canadian type, hereditary tyrosinemia type 1, hereditary motor and sensory neuropathy with or without agenesis of the corpus callosum and autosomal recessive spastic ataxia of Charlevoix-Saguenay undergoing family planning decision-making process. Our study aimed to describe the decisional needs of carrier couples according to the Ottawa Decision Support Framework. METHODS: A qualitative descriptive study was conducted. Qualitative individual and joint couple interviews were performed among 39 carrier individuals and 11 health and social care professionals. RESULTS: Carrier couples' decision-making process is complex, and their decisional needs include, among others, sufficient knowledge about the disease and the reproductive options, personal values and available support. Increased decisional conflict was observed among carriers of diseases associated with low morbidity and mortality. CONCLUSION: Family planning decision-making is an evolutive deliberative process that requires appropriate shared decision-making to insure decisional comfort. PRACTICE IMPLICATIONS: Carrier couples family planning decision-making process needs to be better supported.

A Drug-Induced Acute Pancreatitis Retrospective Study.

Background and Aims: Drugs are considered a relatively rare and understudied cause of acute pancreatitis (AP). The lack of convincing and conclusive data on drug-induced AP (DIAP) complicates the diagnosis as well as the identification of the causative drug. The aim of this study is to document causes of DIAP cases that occurred in the Saguenay-Lac-Saint-Jean (SLSJ) population. Methods: We have conducted a retrospective and descriptive population-based study of DIAP cases that occurred between 2006 and 2014 in the six hospitals serving the entire SLSJ population. Cases were selected from the Quebec Ministry of Health hospitalizations registry (MED-ECHO) administrative public database. A medical chart review was performed in an attempt to characterize DIAP hospitalizations and to identify the imputable drugs. Results: During the studied period, 75 cases (30.7% male, 69.3% female) were included totaling 90 hospitalizations for DIAP. Among them, 50 causative drugs were identified and were distributed in 17 different drug classes. Recurrent DIAPs were documented in 13 cases, and among them, 6 cases have experimented a positive rechallenge. Six drugs (5-fluorouracil, atorvastatin, bortezomib, nilotinib, rosuvastatin, and triamcinolone) were associated with the highest degree of evidence. The most common causative drugs of DIAP hospitalization were azathioprine (n = 7), followed by atorvastatin (n = 6), hydrochlorothiazide (n = 5), rosuvastatin (n = 4), and codeine (n = 4). Conclusions: This study has added new evidences about potentially pancreatitis-associated drugs in literature. This is the first study to report definite 5-fluorouracil- and triamcinolone-induced AP. An updated version of the evidence-based literature review is needed to support the clinicians in the identification of the causative drugs.

Pharmacogenetic testing in primary care practice: opinions of physicians, pharmacists and patients.

Aim: Although health authorities have set pharmacogenetic (PGx) markers on labels of hundreds of drugs, the use of PGx in clinical care remains infrequent. The adoption of PGx will depend on the opinions of physicians, pharmacists and patients. Materials & methods: Qualitative focus group interviews were performed with 23 physicians, 11 pharmacists and 30 patients. Results: Majority of the participants showed enthusiasm toward the implementation of PGx in clinics. Lack of knowledge on PGx, roles of healthcare providers, factors in favor and challenges of PGx implementation, ethical and insurance issues, educational and tools needs were the key themes that emerged from the interviews. Conclusion: Several barriers impede the uptake of PGx in clinics, however, opinions of physicians, pharmacists and patients are mostly favorable.