Last data update: Sep 23, 2024. (Total: 47723 publications since 2009)
Records 1-18 (of 18 Records) |
Query Trace: Gagnon M [original query] |
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STrengthening the REporting of Genetic Association studies (STREGA): an extension of the STROBE Statement.
Little J , Higgins JP , Ioannidis JP , Moher D , Gagnon F , von Elm E , Khoury MJ , Cohen B , Davey-Smith G , Grimshaw J , Scheet P , Gwinn M , Williamson RE , Zou GY , Hutchings K , Johnson CY , Tait V , Wiens M , Golding J , van Duijn C , McLaughlin J , Paterson A , Wells G , Fortier I , Freedman M , Zecevic M , King R , Infante-Rivard C , Stewart A , Birkett N . Ann Intern Med 2009 150 (3) 206-15 Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information into the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and issues of data volume that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis. |
Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE Statement.
Little J , Higgins JP , Ioannidis JP , Moher D , Gagnon F , von Elm E , Khoury MJ , Cohen B , Davey-Smith G , Grimshaw J , Scheet P , Gwinn M , Williamson RE , Zou GY , Hutchings K , Johnson CY , Tait V , Wiens M , Golding J , van Duijn C , McLaughlin J , Paterson A , Wells G , Fortier I , Freedman M , Zecevic M , King R , Infante-Rivard C , Stewart A , Birkett N . Hum Genet 2009 125 (2) 131-51 Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis. |
STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement.
Little J , Higgins JP , Ioannidis JP , Moher D , Gagnon F , von Elm E , Khoury MJ , Cohen B , Davey-Smith G , Grimshaw J , Scheet P , Gwinn M , Williamson RE , Zou GY , Hutchings K , Johnson CY , Tait V , Wiens M , Golding J , van Duijn C , McLaughlin J , Paterson A , Wells G , Fortier I , Freedman M , Zecevic M , King R , Infante-Rivard C , Stewart A , Birkett N . PLoS Med 2009 6 (2) e22 Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis. |
Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE statement.
Little J , Higgins JP , Ioannidis JP , Moher D , Gagnon F , von Elm E , Khoury MJ , Cohen B , Davey-Smith G , Grimshaw J , Scheet P , Gwinn M , Williamson RE , Zou GY , Hutchings K , Johnson CY , Tait V , Wiens M , Golding J , van Duijn C , McLaughlin J , Paterson A , Wells G , Fortier I , Freedman M , Zecevic M , King R , Infante-Rivard C , Stewart A , Birkett N . Eur J Epidemiol 2009 24 (1) 37-55 Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis. |
STrengthening the REporting of Genetic Association studies (STREGA)--an extension of the STROBE statement.
Little J , Higgins JP , Ioannidis JP , Moher D , Gagnon F , von Elm E , Khoury MJ , Cohen B , Davey-Smith G , Grimshaw J , Scheet P , Gwinn M , Williamson RE , Zou GY , Hutchings K , Johnson CY , Tait V , Wiens M , Golding J , van Duijn C , McLaughlin J , Paterson A , Wells G , Fortier I , Freedman M , Zecevic M , King R , Infante-Rivard C , Stewart A , Birkett N . Eur J Clin Invest 2009 39 (4) 247-66 Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed, but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct or analysis. |
Strengthening the reporting of genetic association studies (STREGA): an extension of the strengthening the reporting of observational studies in epidemiology (STROBE) statement.
Little J , Higgins JP , Ioannidis JP , Moher D , Gagnon F , von Elm E , Khoury MJ , Cohen B , Davey-Smith G , Grimshaw J , Scheet P , Gwinn M , Williamson RE , Zou GY , Hutchings K , Johnson CY , Tait V , Wiens M , Golding J , van Duijn C , McLaughlin J , Paterson A , Wells G , Fortier I , Freedman M , Zecevic M , King R , Infante-Rivard C , Stewart AF , Birkett N . J Clin Epidemiol 2009 62 (6) 597-608.e4 Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence, the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association (STREGA) studies initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed, but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis. |
TMEM41B is a pan-flavivirus host factor (preprint)
Hoffmann HH , Schneider WM , Rozen-Gagnon K , Miles LA , Schuster F , Razooky B , Jacobson E , Wu X , Yi S , Rudin CM , MacDonald MR , McMullan LK , Poirier JT , Rice CM . bioRxiv 2020 11 11 Flaviviruses pose a constant threat to human health. These RNA viruses are transmitted by the bite of infected mosquitoes and ticks and regularly cause outbreaks. To identify host factors required for flavivirus infection we performed full-genome loss of function CRISPR-Cas9 screens. Based on these results we focused our efforts on characterizing the roles that TMEM41B and VMP1 play in the virus replication cycle. Our mechanistic studies on TMEM41B revealed that all members of the Flaviviridae family that we tested require TMEM41B. We tested 12 additional virus families and found that SARS-CoV-2 of the Coronaviridae also required TMEM41B for infection. Remarkably, single nucleotide polymorphisms (SNPs) present at nearly twenty percent in East Asian populations reduce flavivirus infection. Based on our mechanistic studies we hypothesize that TMEM41B is recruited to flavivirus RNA replication complexes to facilitate membrane curvature, which creates a protected environment for viral genome replication. | HIGHLIGHTS: TMEM41B and VMP1 are required for both autophagy and flavivirus infection, however, autophagy is not required for flavivirus infection.TMEM41B associates with viral proteins and likely facilitates membrane remodeling to establish viral RNA replication complexes.TMEM41B single nucleotide polymorphisms (SNPs) present at nearly twenty percent in East Asian populations reduce flavivirus infection.TMEM41B-deficient cells display an exaggerated innate immune response upon high multiplicity flavivirus infection. |
Public health and medical preparedness for mass casualties from the deliberate release of synthetic opioids
Cibulsky SM , Wille T , Funk R , Sokolowski D , Gagnon C , Lafontaine M , Brevett C , Jabbour R , Cox J , Russell DR , Jett DA , Thomas JD , Nelson LS . Front Public Health 2023 11 1158479 The large amounts of opioids and the emergence of increasingly potent illicitly manufactured synthetic opioids circulating in the unregulated drug supply in North America and Europe are fueling not only the ongoing public health crisis of overdose deaths but also raise the risk of another type of disaster: deliberate opioid release with the intention to cause mass harm. Synthetic opioids are highly potent, rapidly acting, can cause fatal ventilatory depression, are widely available, and have the potential to be disseminated for mass exposure, for example, if effectively formulated, via inhalation or ingestion. As in many other chemical incidents, the health consequences of a deliberate release of synthetic opioid would manifest quickly, within minutes. Such an incident is unlikely, but the consequences could be grave. Awareness of the risk of this type of incident and preparedness to respond are required to save lives and reduce illness. Coordinated planning across the entire local community emergency response system is also critical. The ability to rapidly recognize the opioid toxidrome, education on personal protective actions, and training in medical management of individuals experiencing an opioid overdose are key components of preparedness for an opioid mass casualty incident. |
Qualitative inquiry into barriers and facilitators to transforming primary care for lesbian, gay, bisexual and transgender people in US federally qualified health centres
Gagnon KW , Bifulco L , Robinson S , Furness B , Lentine D , Anderson D . BMJ Open 2022 12 (2) e055884 OBJECTIVES: Health systems must rapidly move knowledge into practice to address disparities impacting sexual and gender minority (SGM) patients. This qualitative study explores barriers and facilitators that arose during an initiative to improve care for SGM patients in federally qualified health centres (FQHCs) from the perspectives of FQHC staff. DESIGN: Cross-sectional qualitative content analysis, using a general inductive approach, of secondary data from transcripts of intervention events offered to FQHC staff and semistructured interviews with staff and FQHC leadership during the intervention. SETTING: 10 FQHCs from nine states in the USA. PARTICIPANTS: FQHC quality improvement (QI) and clinical care staff, and leaders at each FQHC. INTERVENTIONS: The transforming care for lesbian, gay, bisexual and transgender people QI initiative combined two evidence-based programmes, Learning Collaborative (LC) and Project Extension for Community Healthcare Outcomes (ECHO), to assist primary care health centres in developing capacity to identify SGM patients, monitor their health and care, and improve disparities. PRIMARY AND SECONDARY OUTCOME MEASURES: The primary outcome was identification of barriers and facilitators to implementing initiatives to improve care for SGM patients. The secondary outcome was clarification of how intervention participants used Project ECHO sessions versus LC meetings to obtain information that influenced implementation of the initiative at their FQHC. RESULTS: Barriers and facilitators mapped to two major themes: 'Clinical' (patients' health, wellness, and available treatment) and Health Systems and Institutional Culture (FQHC operations, and customs and social institutions within the FQHCs and in the external environment). Common 'Clinical' inquiries were for assistance with behavioural health, pre-exposure prophylaxis and transgender hormone therapy. Prevalent facilitators included workflow change and staff training, while adapting electronic health records for data collection, decision support and data extraction was the most prevalent barrier. CONCLUSIONS: Project ECHO and LC provided complimentary forums to explore clinical and operational changes needed to improve care for SGM at FQHCs. |
Trends in the use of cervical cancer screening tests in a large medical claims database, United States, 2013-2019.
Qin J , Shahangian S , Saraiya M , Holt H , Gagnon M , Sawaya GF . Gynecol Oncol 2021 163 (2) 378-384 OBJECTIVE: To examine trends in the use of cervical cancer screening tests during 2013-2019 among commercially insured women. METHODS: The study population included women of all ages with continuous enrollment each year in the IBM MarketScan commercial or Medicare supplemental databases and without known history of cervical cancer or precancer (range = 6.9-9.8 million women per year). Annual cervical cancer screening test use was examined by three modalities: cytology alone, cytology plus HPV testing (cotesting), and HPV testing alone. Trends were assessed using 2-sided Poisson regression. RESULTS: Use of cytology alone decreased from 34.2% in 2013 to 26.4% in 2019 among women aged 21-29 years (P < .0001). Among women aged 30-64 years, use of cytology alone decreased from 18.9% in 2013 to 8.6% in 2019 (P < .0001), whereas cotesting use increased from 14.9% in 2013 to 19.3% in 2019 (P < .0001). Annual test use for HPV testing alone was below 0.5% in all age groups throughout the study period. Annually, 8.7%-13.6% of women aged 18-20 years received cervical cancer screening. There were persistent differences in screening test use by metropolitan residence and census regions despite similar temporal trends. CONCLUSIONS: Temporal changes in the use of cervical cancer screening tests among commercially insured women track changes in clinical guidelines. Screening test use among individuals younger than 21 years shows that many young women are inappropriately screened for cervical cancer. |
TMEM41B Is a Pan-flavivirus Host Factor.
Hoffmann HH , Schneider WM , Rozen-Gagnon K , Miles LA , Schuster F , Razooky B , Jacobson E , Wu X , Yi S , Rudin CM , MacDonald MR , McMullan LK , Poirier JT , Rice CM . Cell 2020 184 (1) 133-148 e20 Flaviviruses pose a constant threat to human health. These RNA viruses are transmitted by the bite of infected mosquitoes and ticks and regularly cause outbreaks. To identify host factors required for flavivirus infection, we performed full-genome loss of function CRISPR-Cas9 screens. Based on these results, we focused our efforts on characterizing the roles that TMEM41B and VMP1 play in the virus replication cycle. Our mechanistic studies on TMEM41B revealed that all members of the Flaviviridae family that we tested require TMEM41B. We tested 12 additional virus families and found that SARS-CoV-2 of the Coronaviridae also required TMEM41B for infection. Remarkably, single nucleotide polymorphisms present at nearly 20% in East Asian populations reduce flavivirus infection. Based on our mechanistic studies, we propose that TMEM41B is recruited to flavivirus RNA replication complexes to facilitate membrane curvature, which creates a protected environment for viral genome replication. |
Transforming primary care for lesbian, gay, bisexual, and transgender people: A collaborative quality improvement initiative
Furness BW , Goldhammer H , Montalvo W , Gagnon K , Bifulco L , Lentine D , Anderson D . Ann Fam Med 2020 18 (4) 292-302 PURPOSE: Lesbian, gay, bisexual, and transgender (LGBT) people experience multiple disparities in access to care and health outcomes. We developed a quality improvement initiative, Transforming Primary Care for LGBT People, to enhance the capacity of federally qualified health centers (FQHCs) to provide culturally affirming care for this population. METHODS: The 1-year intervention blended the models of Practice Improvement Collaboratives and Project ECHO (Extension for Community Health Outcomes) to facilitate learning and translate knowledge into action. FQHC teams received coaching in creating LGBT-inclusive environments, collecting sexual orientation and gender identity (SOGI) data, taking risk-based sexual histories, and screening LGBT people for syphilis, chlamydia and gonorrhea, and HIV. We used a preintervention-postintervention evaluation design. RESULTS: We selected 10 FQHCs serving 441,387 patients in 123 clinical sites in 9 states. The intervention spread from 10 clinicians in 10 clinical sites to 431 clinicians in 79 clinical sites. FQHCs reported increases in culturally affirming practices, including collecting patient pronoun information (42.9% increase) and identifying LGBT patient liaisons (300.0% increase). Postintervention, among 9 FQHCs reporting SOGI data from electronic health records, SOGI documentation increased from 13.5% to 50.8% of patients (276.3% increase). Among 8 FQHCs reporting number of LGBT patients, screening of LGBT patients increased from 22.3% (95% CI, 4.9%-40.0%) to 34.6% (95% CI, 19.4%-48.6%) for syphilis (86.5% increase); from 25.3% (95% CI, 7.6%-43.1%) to 44.1% (95% CI, 30.2%-58.1%) for chlamydia and gonorrhea (109.0% increase); and from 14.8% (95% CI, 3.2%-26.5%) to 30.5% (95% CI, 26.7%-34.3%) for HIV (132.4% increase). CONCLUSIONS: FQHCs participating in this initiative reported improved capacity to provide culturally affirming care and targeted screening for LGBT patients. |
A 10-year review of the Centers for Disease Control and Prevention's Heads Up initiatives: bringing concussion awareness to the forefront
Sarmiento K , Hoffman R , Dmitrovsky Z , Lee R . J Safety Res 2014 50 143-7 Children and adolescents are at increased risk for concussions, a type of mild traumatic brain injury (TBI) caused by a bump, blow, or jolt to the head or body that can change the way the brain normally works. While most children and adolescents no longer experience symptoms within two weeks of the injury, some—especially those who have a history of concussions—may have symptoms that last for months or even longer (Eisenberg, Andrea, Meehan, & Mannix, 2013). Concussions need to be addressed correctly to help reduce the risk for short- or long-term health problems that can affect a child’s or adolescent’s thinking, learning, behavior, and/or emotions (Brosseau-Lachaine, Gagnon, Forget, & Faubert, 2008; McClincy, Lovell, Pardini, Collins, & Spore, 2006; Moser, Schatz, & Jordan, 2005; Schatz, Moser, Covassin, & Karpf, 2011). | To help address this public health concern, the Children’s Health Act of 2000 (H.R. 4365) (Library of Congress, 1999–2000) charged the Centers for Disease Control and Prevention’s (CDC) National Center for Injury Prevention and Control to implement a public information campaign to broaden public awareness of the health consequences of TBI. In response, CDC developed and launched the Heads Up concussion education campaign. Over the last 10 years, CDC’s Heads Up campaign has grown into a cohesive suite of educational initiatives that share a common goal: to help protect children and adolescents from concussions and other serious brain injuries by raising awareness, enhancing knowledge, and informing action to improve prevention, recognition, and response to concussions. Each CDC Heads Up initiative fulfills these goals by (1) translating the latest concussion science into educational products tailored specifically for the target audiences, and (2) working with partner organizations to disseminate and integrate concussion educational materials and messages into their existing systems and programs. This report describes the process CDC employed to develop and carry out the Heads Up campaign. |
CLIA requirements for proficiency testing: the basics for laboratory professionals
Astles JR , Stang H , Alspach T , Mitchell G , Gagnon M , Bosse D . MLO Med Lab Obs 2013 45 (9) 8-10, 12, 14-5; quiz 16 Along with requirements for personnel qualifications and quality control testing, proficiency testing (PT) is one of the central safeguards of laboratory quality under the Clinical Laboratory Improvement Amendments of 1988 (CLIA)1 and its regulations.2 The CLIA regulations have often been compared to a three-legged stool, resting on requirements for personnel qualifications and two performance indicators: quality control testing and proficiency testing. Proficiency testing is the only external performance indicator required by CLIA. |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders
Chen B , Mei J , Kalman L , Shahangian S , Williams I , Gagnon M , Bosse D , Ragin A , Cuthbert C , Zehnbauer B . MMWR Recomm Rep 2012 61 1-44 Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations, laboratory testing is categorized on the basis of the level of testing complexity as either waived (i.e., from routine regulatory oversight) or nonwaived testing (which includes tests of moderate and high complexity). Laboratories that perform biochemical genetic testing are required by CLIA regulations to meet the general quality systems requirements for nonwaived testing and the personnel requirements for high-complexity testing. Laboratories that perform public health newborn screening are subject to the same CLIA regulations and applicable state requirements. As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. To help ensure the quality of laboratory testing, CDC collaborated with the Centers for Medicare & Medicaid Services, the Food and Drug Administration, the Health Resources and Services Administration, and the National Institutes of Health to develop guidelines for laboratories to meet CLIA requirements and apply additional quality assurance measures for these areas of genetic testing. This report provides recommendations for good laboratory practices that were developed based on recommendations from the Clinical Laboratory Improvement Advisory Committee, with additional input from the Secretary's Advisory Committee on Genetics, Health, and Society; the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; and representatives of newborn screening laboratories. The recommended practices address the benefits of using a quality management system approach, factors to consider before introducing new tests, establishment and verification of test performance specifications, the total laboratory testing process (which consists of the preanalytic, analytic, and postanalytic phases), confidentiality of patient information and test results, and personnel qualifications and responsibilities for laboratory testing for inherited metabolic diseases. These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. These recommendations also are intended as a resource for medical and public health professionals who evaluate laboratory practices, for users of laboratory services to facilitate their collaboration with newborn screening systems and use of biochemical genetic tests, and for standard-setting organizations and professional societies in developing future laboratory quality standards and practice recommendations. This report complements Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions (CDC. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR 2009;58 [No. RR-6]) to provide guidance for ensuring and improving the quality of genetic laboratory services and public health outcomes. Future recommendations for additional areas of genetic testing will be considered on the basis of continued monitoring and evaluation of laboratory practices, technology advancements, and the development of laboratory standards and guidelines. |
NIOSH Manual of Analytical Methods 5th Edition-new resources and direction
Schlecht P , O'Connor PF , Key-Schwartz R , Lunsford A , Gagnon Y . J Occup Environ Hyg 2011 8 (7) 59-62 In 1973, the National Institute for Occupational Safety and Health (NIOSH) published the first edition of the NIOSH Manual of Analytical Methods (NMAM®). It contained 38 procedures developed by chemists at NIOSH. Today, the NMAM is accessible on the Internet at http://www.cdc.gov/niosh/docs/2003-154/ and contains more than 300 methods. | The NMAM, a compendium of validated methods for measuring occupational exposures to hazardous substances, is one of the most successful products in NIOSH history. The current fourth edition( Citation1 ) is the second most visited and downloaded document on the NIOSH website (receiving an average 30,000 visits per month, 60% of these international; Figure 1 shows the distribution by region.) The methods most often downloaded are shown in Figure 2, with metals, hydrocarbons, and particulates comprising the top three. |
Good laboratory practices for molecular genetic testing for heritable diseases and conditions
Chen B , Gagnon M , Shahangian S , Anderson NL , Howerton DA , Boone JD . MMWR Recomm Rep 2009 58 1-37; quiz CE-1-4 Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations, laboratory testing is categorized as waived (from routine regulatory oversight) or nonwaived based on the complexity of the tests; tests of moderate and high complexity are nonwaived tests. Laboratories that perform molecular genetic testing are subject to the general CLIA quality systems requirements for nonwaived testing and the CLIA personnel requirements for tests of high complexity. Although many laboratories that perform molecular genetic testing comply with applicable regulatory requirements and adhere to professional practice guidelines,specific guidelines for quality assurance are needed to ensure the quality of test performance. To enhance the oversight of genetic testing under the CLIA framework,CDC and the Centers for Medicare & Medicaid Services (CMS) have taken practical steps to address the quality management concerns in molecular genetic testing,including working with the Clinical Laboratory Improvement Advisory Committee (CLIAC). This report provides CLIAC recommendations for good laboratory practices for ensuring the quality of molecular genetic testing for heritable diseases and conditions. The recommended practices address the total testing process (including the preanalytic,analytic,and postanalytic phases),laboratory responsibilities regarding authorized persons,confidentiality of patient information,personnel competency,considerations before introducing molecular genetic testing or offering new molecular genetic tests,and the quality management system approach to molecular genetic testing. These recommendations are intended for laboratories that perform molecular genetic testing for heritable diseases and conditions and for medical and public health professionals who evaluate laboratory practices and policies to improve the quality of molecular genetic laboratory services. This report also is intended to be a resource for users of laboratory services to aid in their use of molecular genetic tests and test results in health assessment and care. Improvements in the quality and use of genetic laboratory services should improve the quality of health care and health outcomes for patients and families of patients. |
STrengthening the REporting of Genetic Association Studies (STREGA)--an extension of the STROBE statement.
Little J , Higgins JP , Ioannidis JP , Moher D , Gagnon F , von Elm E , Khoury MJ , Cohen B , Davey-Smith G , Grimshaw J , Scheet P , Gwinn M , Williamson RE , Zou GY , Hutchings K , Johnson CY , Tait V , Wiens M , Golding J , van Duijn C , McLaughlin J , Paterson A , Wells G , Fortier I , Freedman M , Zecevic M , King R , Infante-Rivard C , Stewart A , Birkett N . Genet Epidemiol 2009 33 (7) 581-98 Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis. |
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