Patient Advisors: How to implement a process for involvement at all levels of governance in a healthcare organization

Patient involvement at the operational (clinical care and services), tactical (management), and strategic (board of directors and executive management) levels of establishments is increasingly sought after. To address this specific challenge, a Canadian healthcare organization, the Centre intégré universitaire de santé et de services sociaux de la Mauricie-et-du-Centre-du-Québec, has developed an integrated strategy based on three principles: (1) shared leadership between a patient and a manager to build the strategy; (2) a clear process for recruiting, training, and coaching patient advisors (PA) so that they can participate in decision-making at the various levels of governance of the establishment; and (3) a feedback process for improving the strategy over time. This initiative gave rise to a pool of 30 patient advisors who reviewed documentation (39.07%), presented testimonies to establishment practitioners (13.73%), participated in process improvement activities (12.97%) and committees (8.93%), and helped train students in health sciences (11.61%). It also led to the development of a request form for all persons wishing to involve PAs in their projects. This PA involvement, highly appreciated by both managers (94%) and PAs (81%), brought back the fundamental meaning of the patient–practitioner relationship and helped incorporate patients’ experiential knowledge into the care and service improvement process. This strategy can serve as a model for other organizations wishing to structure optimal patient engagement at the different levels of governance of their organization

Investigating mitochondrial DNA relationships in Neolithic Western Europe through serial coalescent simulations

Recent ancient DNA studies on European Neolithic human populations have provided persuasive evidence of a major migration of farmers originating from the Aegean, accompanied by sporadic hunter-gatherer admixture into early Neolithic populations, but increasing toward the Late Neolithic. In this context, ancient mitochondrial DNA data collected from the Neolithic necropolis of Gurgy (Paris Basin, France), the largest mitochondrial DNA sample obtained from a single archeological site for the Early/Middle Neolithic period, indicate little differentiation from farmers associated to both the Danubian and Mediterranean Neolithic migration routes, as well as from Western European hunter-gatherers. To test whether this pattern of differentiation could arise in a single unstructured population by genetic drift alone, we used serial coalescent simulations. We explore female effective population size parameter combinations at the time of the colonization of Europe 45000 years ago and the most recent of the Neolithic samples analyzed in this study 5900 years ago, and identify conditions under which population panmixia between hunter-gatherers/Early-Middle Neolithic farmers and Gurgy cannot be rejected. In relation to other studies on the current debate of the origins of Europeans, these results suggest increasing hunter-gatherer admixture into farmers' group migrating farther west in Europe.European Journal of Human Genetics advance online publication, 28 December 2016; doi:10.1038/ejhg.2016.180

A collaborative model to implement flexible, accessible and efficient oncogenetic services for hereditary breast and ovarian cancer : the C-MOnGene study

Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants' understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics

Does accreditation stimulate change? A study of the impact of the accreditation process on Canadian healthcare organizations

<p>Abstract</p> <p>Background</p> <p>One way to improve quality and safety in healthcare organizations (HCOs) is through accreditation. Accreditation is a rigorous external evaluation process that comprises self-assessment against a given set of standards, an on-site survey followed by a report with or without recommendations, and the award or refusal of accreditation status. This study evaluates how the accreditation process helps introduce organizational changes that enhance the quality and safety of care.</p> <p>Methods</p> <p>We used an embedded multiple case study design to explore organizational characteristics and identify changes linked to the accreditation process. We employed a theoretical framework to analyze various elements and for each case, we interviewed top managers, conducted focus groups with staff directly involved in the accreditation process, and analyzed self-assessment reports, accreditation reports and other case-related documents.</p> <p>Results</p> <p>The context in which accreditation took place, including the organizational context, influenced the type of change dynamics that occurred in HCOs. Furthermore, while accreditation itself was not necessarily the element that initiated change, the accreditation process was a highly effective tool for (i) accelerating integration and stimulating a spirit of cooperation in newly merged HCOs; (ii) helping to introduce continuous quality improvement programs to newly accredited or not-yet-accredited organizations; (iii) creating new leadership for quality improvement initiatives; (iv) increasing social capital by giving staff the opportunity to develop relationships; and (v) fostering links between HCOs and other stakeholders. The study also found that HCOs' motivation to introduce accreditation-related changes dwindled over time.</p> <p>Conclusions</p> <p>We conclude that the accreditation process is an effective leitmotiv for the introduction of change but is nonetheless subject to a learning cycle and a learning curve. Institutions invest greatly to conform to the first accreditation visit and reap the greatest benefits in the next three accreditation cycles (3 to 10 years after initial accreditation). After 10 years, however, institutions begin to find accreditation less challenging. To maximize the benefits of the accreditation process, HCOs and accrediting bodies must seek ways to take full advantage of each stage of the accreditation process over time.</p

Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma

[Excerpt] Multiple myeloma (MM) is the third most common hematological malignancy, after Non-Hodgkin Lymphoma and Leukemia. MM is generally preceded by Monoclonal Gammopathy of Undetermined Significance (MGUS) [1], and epidemiological studies have identified older age, male gender, family history, and MGUS as risk factors for developing MM [2]. The somatic mutational landscape of sporadic MM has been increasingly investigated, aiming to identify recurrent genetic events involved in myelomagenesis. Whole exome and whole genome sequencing studies have shown that MM is a genetically heterogeneous disease that evolves through accumulation of both clonal and subclonal driver mutations [3] and identified recurrently somatically mutated genes, including KRAS, NRAS, FAM46C, TP53, DIS3, BRAF, TRAF3, CYLD, RB1 and PRDM1 [3,4,5]. Despite the fact that family-based studies have provided data consistent with an inherited genetic susceptibility to MM compatible with Mendelian transmission [6], the molecular basis of inherited MM predisposition is only partly understood. Genome-Wide Association (GWAS) studies have identified and validated 23 loci significantly associated with an increased risk of developing MM that explain ~16% of heritability [7] and only a subset of familial cases are thought to have a polygenic background [8]. Recent studies have identified rare germline variants predisposing to MM in KDM1A [9], ARID1A and USP45 [10], and the implementation of next-generation sequencing technology will allow the characterization of more such rare variants. [...]French National Cancer Institute (INCA) and the Fondation Française pour la Recherche contre le Myélome et les Gammapathies (FFMRG), the Intergroupe Francophone du Myélome (IFM), NCI R01 NCI CA167824 and a generous donation from Matthew Bell. This work was supported in part through the computational resources and staff expertise provided by Scientific Computing at the Icahn School of Medicine at Mount Sinai. Research reported in this paper was supported by the Office of Research Infrastructure of the National Institutes of Health under award number S10OD018522. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors thank the Association des Malades du Myélome Multiple (AF3M) for their continued support and participation. Where authors are identified as personnel of the International Agency for Research on Cancer / World Health Organization, the authors alone are responsible for the views expressed in this article and they do not necessarily represent the decisions, policy or views of the International Agency for Research on Cancer / World Health Organizatio

Non-HFE hemochromatosis: Pathophysiological and diagnostic aspects.

International audienceRare genetic iron overload diseases are an evolving field due to major advances in genetics and molecular biology. Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakthroughs in the understanding of iron metabolism biology and molecular mechanisms led to the discovery of new genes and subsequently, new types of hemochromatosis. To date, four types of hemochromatosis have been identified: HFE-related or type1 hemochromatosis, the most frequent form in Caucasians, and four rare types, named type 2 (A and B) hemochromatosis (juvenile hemochromatosis due to hemojuvelin and hepcidin mutation), type 3 hemochromatosis (related to transferrin receptor 2 mutation), and type 4 (A and B) hemochromatosis (ferroportin disease). The diagnosis relies on the comprehension of the involved physiological defect that can now be explored by biological and imaging tools, which allow non-invasive assessment of iron metabolism. A multidisciplinary approach is essential to support the physicians in the diagnosis and management of those rare diseases

Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload

International audienceAs our understanding of iron metabolism improves through the more accurate description of iron metabolism actors, new causes of iron overload are identified. We, here, report 16 cases of hereditary hypotransferrinemia related to 4 previously undescribed TF (transferrin) mutations (p.Val221Gly, p.Arg609Trp, p.Glu370Lys, p.Tyr533X and p.Cys421Arg). We show that, besides increasing serum transferrin saturation without iron overload, hypotransferrinemia, when associated to mutations in HFE or HAMP or to acquired factors, can lead to clinically relevant iron burden. These cases emphasize the usefulness of serum transferrin determination in the diagnostic evaluation of iron overload and the importance for clinicians to be aware of this syndrome

Gaps in the management of food‐induced anaphylaxis reactions at school

International audienc

Gaps in the management of food‐induced anaphylaxis reactions at school

International audienc

Insuffisance ovarienne prématurée chez deux patientes présentant une délétion Xq

National audienceObjet L’insuffisance ovarienne prématurée (IOP) est une pathologie caractérisée par une absence ou un arrêt de la fonction ovarienne normale avant l’âge de 40 ans. Elle peut se manifester par une aménorrhée ou par une ménopause précoce. Elle est caractérisée au niveau hormonal par un hypo-œstrogénisme avec augmentation de l’excrétion des hormones gonadotrophiques. Les étiologies sont très hétérogènes et les anomalies chromosomiques semblent représenter 15 à 20 % des causes rapportées. Neuf régions critiques (premature ovarian failure [POF] 1 à 9) ont été décrites dans la littérature dont les loci POF1 et POF2 localisées sur le bras long du chromosome X (Xq26-Xq28 et Xq13.3-Xq21.1, respectivement). Ces deux régions seraient porteuses de gènes impliqués dans le développement ovarien. Parmi les gènes candidats localisés au niveau de ces régions, outre FMR1 (Xq27.3), on peut retenir le gène DIAPH2 (Xq22), le gène XPNPEP2 (Xq25) et le gène ZFX (Xq22.2-Xp21.3). Méthode Des analyses cytogénétiques : caryotype en bandes RHG, analyse chromosomique par puce à ADN (ACPA) et FISH ont été réalisés chez 2 femmes présentant une IOP. Résultats La première patiente est porteuse d’une délétion terminale Xq27.2q28 d’environ 14,4 Mb, incluant POF1 dont le principal gène candidat est FMR1. La deuxième patiente est porteuse d’une duplication interstitielle Xq23.32q22.1 d’environ 8,4 Mb au niveau de POF2 avec le gène DIAPH2, et d’une délétion terminale Xq22.1q28 d’environ 53,5Mb incluant POF1. Ces deux remaniements sont localisés sur le même chromosome X et résultent d’un mécanisme d’inversion-délétion-duplication non médié par recombinaison homologue non allélique (NAHR). Discussion La présence d’une délétion Xq terminale impliquant POF1 chez ces deux patientes conforte le rôle de cette région dans la survenue d’une IOP. Par ailleurs, aucun cas d’inversion-délétion-duplication du bras long du chromosome X chez une femme présentant une IOP n’est rapporté dans la littérature. Une perte de fonction du gène DIAPH2 a quant à elle été décrite comme responsable d’IOP, cependant, le rôle d’une duplication impliquant POF2 et ce gène DIAPH2 reste à établi