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Evidence synthesis and guideline development in genomic medicine: current status and future prospects.

ABSTRACT: With the accelerated implementation of genomic medicine, health-care providers will depend heavily on professional guidelines and recommendations. Because genomics affects many diseases across the life span, no single professional group covers the entirety of this rapidly developing field.To pursue a discussion of the minimal elements needed to develop evidence-based guidelines in genomics, the Centers for Disease Control and Prevention and the National Cancer Institute jointly held a workshop to engage representatives from 35 organizations with interest in genomics (13 of which make recommendations). The workshop explored methods used in evidence synthesis and guideline development and initiated a dialogue to compare these methods and to assess whether they are consistent with the Institute of Medicine report "Clinical Practice Guidelines We Can Trust."The participating organizations that develop guidelines or recommendations all had policies to manage guideline development and group membership, and processes to address conflicts of interests. However, there was wide variation in the reliance on external reviews, regular updating of recommendations, and use of systematic reviews to assess the strength of scientific evidence.Ongoing efforts are required to establish criteria for guideline development in genomic medicine as proposed by the Institute of Medicine.

SUBMITTER: Schully SD

PROVIDER: S-EPMC4272332 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature

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Evidence synthesis and guideline development in genomic medicine: current status and future prospects.

Schully Sheri D SD Lam Tram Kim TK Dotson W David WD Chang Christine Q CQ Aronson Naomi N Birkeland Marian L ML Brewster Stephanie Jo SJ Boccia Stefania S Buchanan Adam H AH Calonge Ned N Calzone Kathleen K Djulbegovic Benjamin B Goddard Katrina A B KA Klein Roger D RD Klein Teri E TE Lau Joseph J Long Rochelle R Lyman Gary H GH Morgan Rebecca L RL Palmer Christina G S CG Relling Mary V MV Rubinstein Wendy S WS Swen Jesse J JJ Terry Sharon F SF Williams Marc S MS Khoury Muin J MJ

Genetics in medicine : official journal of the American College of Medical Genetics 20140619 1

<h4>Purpose</h4>With the accelerated implementation of genomic medicine, health-care providers will depend heavily on professional guidelines and recommendations. Because genomics affects many diseases across the life span, no single professional group covers the entirety of this rapidly developing field.<h4>Methods</h4>To pursue a discussion of the minimal elements needed to develop evidence-based guidelines in genomics, the Centers for Disease Control and Prevention and the National Cancer Ins ...[more]

PMID: 24946156

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Project description:The location of Ecuador-an equatorial nation-favors the multiplication and dispersal of the Leptospira genus both on the Pacific Coast and in the Amazon tropical ecoregions. Nevertheless, leptospirosis epidemiology has not been fully addressed, even though the disease has been recognized as a significant public health problem in the country. The purpose of this literature review is to update knowledge on the epidemiology and geographical distribution of Leptospira spp. and leptospirosis in Ecuador to target future research and develop a national control strategy. A retrospective literature search using five international, regional, and national databases on Leptospira and leptospirosis including humans, animals, and environmental isolations of the bacteria and the disease incidence in Ecuador published between 1919 and 2022 (103 years) with no restriction on language or publication date was performed. We found and analyzed 47 publications including 22 of humans, 19 of animals, and two of the environments; three of these covered more than one of these topics, and one covered all three (i.e., One Health). Most (60%) of the studies were conducted in the Coastal ecoregion. Twenty-four (51%) were published in international journals, and 27 (57%) were in Spanish. A total of 7342 human and 6314 other animal cases were studied. Leptospirosis was a frequent cause of acute undifferentiated febrile illness in the Coast and Amazon and was associated with rainfall. All three major clusters of Leptospira-pathogenic, intermediate, and saprophytic-were identified from both healthy and febrile humans, the environment, and animals; moreover, nine species and 29 serovars were recorded over the three Ecuadorian ecoregions. Leptospira infections were diagnosed in livestock, companion, and wild animals from the Amazon and the Coast regions along with sea lions from the Galápagos Islands. Microscopic-agglutination test was the diagnostic tool most widely used. Three reviews covering national data on outpatients and inpatients determined the varied annual incidence and mortality rate, with males being more commonly affected. No human cases have been reported in the Galápagos Islands. Genomic sequences of three pathogenic Leptospira were reported. No studies on clinical ground, antibiotic resistance, or treatment were reported, nor were control programs or clinical-practice guidelines found. The published literature demonstrated that leptospirosis was and still is an endemic disease with active transmission in the four geoclimatic regions of Ecuador including the Galápagos Islands. Animal infections, distributed in mainland and insular Ecuador, pose a significant health risk for humans. Nationwide epidemiological surveys-encouraging more research on the fauna and environment with appropriate sampling design on risk factors for human and animal leptospirosis, Leptospira genotyping, increased laboratory capability, and readily available official data-are required to improve our understanding of transmission patterns and to develop effective national intervention strategies with the intention of applying One Health approaches.

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Evidence synthesis and guideline development in genomic medicine: current status and future prospects.

Publications

Evidence synthesis and guideline development in genomic medicine: current status and future prospects.

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