Last data update: Nov 04, 2024. (Total: 48056 publications since 2009)
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Potential indirect effects of the COVID-19 pandemic on use of emergency departments for acute life-threatening conditions - United States, January-May 2020.
Lange SJ , Ritchey MD , Goodman AB , Dias T , Twentyman E , Fuld J , Schieve LA , Imperatore G , Benoit SR , Kite-Powell A , Stein Z , Peacock G , Dowling NF , Briss PA , Hacker K , Gundlapalli AV , Yang Q . Am J Transplant 2020 20 (9) 2612-2617 This article describes a significant decline in emergency department visits for acute life-threatening conditions during the COVID-19 pandemic, suggesting that patients may be delaying or avoiding care or unable to access care during the pandemic. |
Trends in US Emergency Department Visits for Mental Health, Overdose, and Violence Outcomes Before and During the COVID-19 Pandemic.
Holland KM , Jones C , Vivolo-Kantor AM , Idaikkadar N , Zwald M , Hoots B , Yard E , D'Inverno A , Swedo E , Chen MS , Petrosky E , Board A , Martinez P , Stone DM , Law R , Coletta MA , Adjemian J , Thomas C , Puddy RW , Peacock G , Dowling NF , Houry D . JAMA Psychiatry 2021 78 (4) 372-379 IMPORTANCE: The coronavirus disease 2019 (COVID-19) pandemic, associated mitigation measures, and social and economic impacts may affect mental health, suicidal behavior, substance use, and violence. OBJECTIVE: To examine changes in US emergency department (ED) visits for mental health conditions (MHCs), suicide attempts (SAs), overdose (OD), and violence outcomes during the COVID-19 pandemic. DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study used data from the Centers for Disease Control and Prevention's National Syndromic Surveillance Program to examine national changes in ED visits for MHCs, SAs, ODs, and violence from December 30, 2018, to October 10, 2020 (before and during the COVID-19 pandemic). The National Syndromic Surveillance Program captures approximately 70% of US ED visits from more than 3500 EDs that cover 48 states and Washington, DC. MAIN OUTCOMES AND MEASURES: Outcome measures were MHCs, SAs, all drug ODs, opioid ODs, intimate partner violence (IPV), and suspected child abuse and neglect (SCAN) ED visit counts and rates. Weekly ED visit counts and rates were computed overall and stratified by sex. RESULTS: From December 30, 2018, to October 10, 2020, a total of 187 508 065 total ED visits (53.6% female and 46.1% male) were captured; 6 018 318 included at least 1 study outcome (visits not mutually exclusive). Total ED visit volume decreased after COVID-19 mitigation measures were implemented in the US beginning on March 16, 2020. Weekly ED visit counts for all 6 outcomes decreased between March 8 and 28, 2020 (March 8: MHCs = 42 903, SAs = 5212, all ODs = 14 543, opioid ODs = 4752, IPV = 444, and SCAN = 1090; March 28: MHCs = 17 574, SAs = 4241, all ODs = 12 399, opioid ODs = 4306, IPV = 347, and SCAN = 487). Conversely, ED visit rates increased beginning the week of March 22 to 28, 2020. When the median ED visit counts between March 15 and October 10, 2020, were compared with the same period in 2019, the 2020 counts were significantly higher for SAs (n = 4940 vs 4656, P = .02), all ODs (n = 15 604 vs 13 371, P < .001), and opioid ODs (n = 5502 vs 4168, P < .001); counts were significantly lower for IPV ED visits (n = 442 vs 484, P < .001) and SCAN ED visits (n = 884 vs 1038, P < .001). Median rates during the same period were significantly higher in 2020 compared with 2019 for all outcomes except IPV. CONCLUSIONS AND RELEVANCE: These findings suggest that ED care seeking shifts during a pandemic, underscoring the need to integrate mental health, substance use, and violence screening and prevention services into response activities during public health crises. |
Estimated County-Level Prevalence of Selected Underlying Medical Conditions Associated with Increased Risk for Severe COVID-19 Illness - United States, 2018.
Razzaghi H , Wang Y , Lu H , Marshall KE , Dowling NF , Paz-Bailey G , Twentyman ER , Peacock G , Greenlund KJ . MMWR Morb Mortal Wkly Rep 2020 69 (29) 945-950 Risk for severe coronavirus disease 2019 (COVID-19)-associated illness (illness requiring hospitalization, intensive care unit [ICU] admission, mechanical ventilation, or resulting in death) increases with increasing age as well as presence of underlying medical conditions that have shown strong and consistent evidence, including chronic obstructive pulmonary disease, cardiovascular disease, diabetes, chronic kidney disease, and obesity (1-4). Identifying and describing the prevalence of these conditions at the local level can help guide decision-making and efforts to prevent or control severe COVID-19-associated illness. Below state-level estimates, there is a lack of standardized publicly available data on underlying medical conditions that increase the risk for severe COVID-19-associated illness. A small area estimation approach was used to estimate county-level prevalence of selected conditions associated with severe COVID-19 disease among U.S. adults aged ≥18 years (5,6) using self-reported data from the 2018 Behavioral Risk Factor Surveillance System (BRFSS) and U.S. Census population data. The median prevalence of any underlying medical condition in residents among 3,142 counties in all 50 states and the District of Columbia (DC) was 47.2% (range = 22.0%-66.2%); counties with the highest prevalence were concentrated in the Southeast and Appalachian region. Whereas the estimated number of persons with any underlying medical condition was higher in population-dense metropolitan areas, overall prevalence was higher in rural nonmetropolitan areas. These data can provide important local-level information about the estimated number and proportion of persons with certain underlying medical conditions to help guide decisions regarding additional resource investment, and mitigation and prevention measures to slow the spread of COVID-19. |
Race/Ethnicity, Underlying Medical Conditions, Homelessness, and Hospitalization Status of Adult Patients with COVID-19 at an Urban Safety-Net Medical Center - Boston, Massachusetts, 2020.
Hsu HE , Ashe EM , Silverstein M , Hofman M , Lange SJ , Razzaghi H , Mishuris RG , Davidoff R , Parker EM , Penman-Aguilar A , Clarke KEN , Goldman A , James TL , Jacobson K , Lasser KE , Xuan Z , Peacock G , Dowling NF , Goodman AB . MMWR Morb Mortal Wkly Rep 2020 69 (27) 864-869 As of July 5, 2020, approximately 2.8 million coronavirus disease 2019 (COVID-19) cases and 130,000 COVID-19-associated deaths had been reported in the United States (1). Populations historically affected by health disparities, including certain racial and ethnic minority populations, have been disproportionally affected by and hospitalized with COVID-19 (2-4). Data also suggest a higher prevalence of infection with SARS-CoV-2, the virus that causes COVID-19, among persons experiencing homelessness (5). Safety-net hospitals,(dagger) such as Boston Medical Center (BMC), which provide health care to persons regardless of their insurance status or ability to pay, treat higher proportions of these populations and might experience challenges during the COVID-19 pandemic. This report describes the characteristics and clinical outcomes of adult patients with laboratory-confirmed COVID-19 treated at BMC during March 1-May 18, 2020. During this time, 2,729 patients with SARS-CoV-2 infection were treated at BMC and categorized into one of the following mutually exclusive clinical severity designations: exclusive outpatient management (1,543; 56.5%), non-intensive care unit (ICU) hospitalization (900; 33.0%), ICU hospitalization without invasive mechanical ventilation (69; 2.5%), ICU hospitalization with mechanical ventilation (119; 4.4%), and death (98; 3.6%). The cohort comprised 44.6% non-Hispanic black (black) patients and 30.1% Hispanic or Latino (Hispanic) patients. Persons experiencing homelessness accounted for 16.4% of patients. Most patients who died were aged >/=60 years (81.6%). Clinical severity differed by age, race/ethnicity, underlying medical conditions, and homelessness. A higher proportion of Hispanic patients were hospitalized (46.5%) than were black (39.5%) or non-Hispanic white (white) (34.4%) patients, a finding most pronounced among those aged <60 years. A higher proportion of non-ICU inpatients were experiencing homelessness (24.3%), compared with homeless patients who were admitted to the ICU without mechanical ventilation (15.9%), with mechanical ventilation (15.1%), or who died (15.3%). Patient characteristics associated with illness and clinical severity, such as age, race/ethnicity, homelessness, and underlying medical conditions can inform tailored strategies that might improve outcomes and mitigate strain on the health care system from COVID-19. |
Potential Indirect Effects of the COVID-19 Pandemic on Use of Emergency Departments for Acute Life-Threatening Conditions - United States, January-May 2020.
Lange SJ , Ritchey MD , Goodman AB , Dias T , Twentyman E , Fuld J , Schieve LA , Imperatore G , Benoit SR , Kite-Powell A , Stein Z , Peacock G , Dowling NF , Briss PA , Hacker K , Gundlapalli AV , Yang Q . MMWR Morb Mortal Wkly Rep 2020 69 (25) 795-800 On March 13, 2020, the United States declared a national emergency in response to the coronavirus disease 2019 (COVID-19) pandemic. Subsequently, states enacted stay-at-home orders to slow the spread of SARS-CoV-2, the virus that causes COVID-19, and reduce the burden on the U.S. health care system. CDC* and the Centers for Medicare & Medicaid Services (CMS)(dagger) recommended that health care systems prioritize urgent visits and delay elective care to mitigate the spread of COVID-19 in health care settings. By May 2020, national syndromic surveillance data found that emergency department (ED) visits had declined 42% during the early months of the pandemic (1). This report describes trends in ED visits for three acute life-threatening health conditions (myocardial infarction [MI, also known as heart attack], stroke, and hyperglycemic crisis), immediately before and after declaration of the COVID-19 pandemic as a national emergency. These conditions represent acute events that always necessitate immediate emergency care, even during a public health emergency such as the COVID-19 pandemic. In the 10 weeks following the emergency declaration (March 15-May 23, 2020), ED visits declined 23% for MI, 20% for stroke, and 10% for hyperglycemic crisis, compared with the preceding 10-week period (January 5-March 14, 2020). EDs play a critical role in diagnosing and treating life-threatening conditions that might result in serious disability or death. Persons experiencing signs or symptoms of serious illness, such as severe chest pain, sudden or partial loss of motor function, altered mental state, signs of extreme hyperglycemia, or other life-threatening issues, should seek immediate emergency care, regardless of the pandemic. Clear, frequent, highly visible communication from public health and health care professionals is needed to reinforce the importance of timely care for medical emergencies and to assure the public that EDs are implementing infection prevention and control guidelines that help ensure the safety of their patients and health care personnel. |
Severe Outcomes Among Patients with Coronavirus Disease 2019 (COVID-19) - United States, February 12-March 16, 2020.
CDC COVID-19 Response Team , Bialek Stephanie , Boundy Ellen , Bowen Virginia , Chow Nancy , Cohn Amanda , Dowling Nicole , Ellington Sascha , Gierke Ryan , Hall Aron , MacNeil Jessica , Patel Priti , Peacock Georgina , Pilishvili Tamara , Razzaghi Hilda , Reed Nia , Ritchey Matthew , Sauber-Schatz Erin . MMWR Morb Mortal Wkly Rep 2020 69 (12) 343-346 Globally, approximately 170,000 confirmed cases of coronavirus disease 2019 (COVID-19) caused by the 2019 novel coronavirus (SARS-CoV-2) have been reported, including an estimated 7,000 deaths in approximately 150 countries (1). On March 11, 2020, the World Health Organization declared the COVID-19 outbreak a pandemic (2). Data from China have indicated that older adults, particularly those with serious underlying health conditions, are at higher risk for severe COVID-19-associated illness and death than are younger persons (3). Although the majority of reported COVID-19 cases in China were mild (81%), approximately 80% of deaths occurred among adults aged ≥60 years; only one (0.1%) death occurred in a person aged ≤19 years (3). In this report, COVID-19 cases in the United States that occurred during February 12-March 16, 2020 and severity of disease (hospitalization, admission to intensive care unit [ICU], and death) were analyzed by age group. As of March 16, a total of 4,226 COVID-19 cases in the United States had been reported to CDC, with multiple cases reported among older adults living in long-term care facilities (4). Overall, 31% of cases, 45% of hospitalizations, 53% of ICU admissions, and 80% of deaths associated with COVID-19 were among adults aged ≥65 years with the highest percentage of severe outcomes among persons aged ≥85 years. In contrast, no ICU admissions or deaths were reported among persons aged ≤19 years. Similar to reports from other countries, this finding suggests that the risk for serious disease and death from COVID-19 is higher in older age groups. |
Assessment of SARS-CoV-2 Infection Prevalence in Homeless Shelters - Four U.S. Cities, March 27-April 15, 2020.
Mosites E , Parker EM , Clarke KEN , Gaeta JM , Baggett TP , Imbert E , Sankaran M , Scarborough A , Huster K , Hanson M , Gonzales E , Rauch J , Page L , McMichael TM , Keating R , Marx GE , Andrews T , Schmit K , Morris SB , Dowling NF , Peacock G . MMWR Morb Mortal Wkly Rep 2020 69 (17) 521-522 In the United States, approximately 1.4 million persons access emergency shelter or transitional housing each year (1). These settings can pose risks for communicable disease spread. In late March and early April 2020, public health teams responded to clusters (two or more cases in the preceding 2 weeks) of coronavirus disease 2019 (COVID-19) in residents and staff members from five homeless shelters in Boston, Massachusetts (one shelter); San Francisco, California (one); and Seattle, Washington (three). The investigations were performed in coordination with academic partners, health care providers, and homeless service providers. Investigations included reverse transcription-polymerase chain reaction testing at commercial and public health laboratories for SARS-CoV-2, the virus that causes COVID-19, over approximately 1-2 weeks for residents and staff members at the five shelters. During the same period, the team in Seattle, Washington, also tested residents and staff members at 12 shelters where a single case in each had been identified. In Atlanta, Georgia, a team proactively tested residents and staff members at two shelters with no known COVID-19 cases in the preceding 2 weeks. In each city, the objective was to test all shelter residents and staff members at each assessed facility, irrespective of symptoms. Persons who tested positive were transported to hospitals or predesignated community isolation areas. |
Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014.
Baio J , Wiggins L , Christensen DL , Maenner MJ , Daniels J , Warren Z , Kurzius-Spencer M , Zahorodny W , Robinson Rosenberg C , White T , Durkin MS , Imm P , Nikolaou L , Yeargin-Allsopp M , Lee LC , Harrington R , Lopez M , Fitzgerald RT , Hewitt A , Pettygrove S , Constantino JN , Vehorn A , Shenouda J , Hall-Lande J , Van Naarden Braun K , Dowling NF . MMWR Surveill Summ 2018 67 (6) 1-23 PROBLEM/CONDITION: Autism spectrum disorder (ASD). PERIOD COVERED: 2014. DESCRIPTION OF SYSTEM: The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance system that provides estimates of the prevalence of autism spectrum disorder (ASD) among children aged 8 years whose parents or guardians reside within 11 ADDM sites in the United States (Arizona, Arkansas, Colorado, Georgia, Maryland, Minnesota, Missouri, New Jersey, North Carolina, Tennessee, and Wisconsin). ADDM surveillance is conducted in two phases. The first phase involves review and abstraction of comprehensive evaluations that were completed by professional service providers in the community. Staff completing record review and abstraction receive extensive training and supervision and are evaluated according to strict reliability standards to certify effective initial training, identify ongoing training needs, and ensure adherence to the prescribed methodology. Record review and abstraction occurs in a variety of data sources ranging from general pediatric health clinics to specialized programs serving children with developmental disabilities. In addition, most of the ADDM sites also review records for children who have received special education services in public schools. In the second phase of the study, all abstracted information is reviewed systematically by experienced clinicians to determine ASD case status. A child is considered to meet the surveillance case definition for ASD if he or she displays behaviors, as described on one or more comprehensive evaluations completed by community-based professional providers, consistent with the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) diagnostic criteria for autistic disorder; pervasive developmental disorder-not otherwise specified (PDD-NOS, including atypical autism); or Asperger disorder. This report provides updated ASD prevalence estimates for children aged 8 years during the 2014 surveillance year, on the basis of DSM-IV-TR criteria, and describes characteristics of the population of children with ASD. In 2013, the American Psychiatric Association published the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), which made considerable changes to ASD diagnostic criteria. The change in ASD diagnostic criteria might influence ADDM ASD prevalence estimates; therefore, most (85%) of the records used to determine prevalence estimates based on DSM-IV-TR criteria underwent additional review under a newly operationalized surveillance case definition for ASD consistent with the DSM-5 diagnostic criteria. Children meeting this new surveillance case definition could qualify on the basis of one or both of the following criteria, as documented in abstracted comprehensive evaluations: 1) behaviors consistent with the DSM-5 diagnostic features; and/or 2) an ASD diagnosis, whether based on DSM-IV-TR or DSM-5 diagnostic criteria. Stratified comparisons of the number of children meeting either of these two case definitions also are reported. RESULTS: For 2014, the overall prevalence of ASD among the 11 ADDM sites was 16.8 per 1,000 (one in 59) children aged 8 years. Overall ASD prevalence estimates varied among sites, from 13.1-29.3 per 1,000 children aged 8 years. ASD prevalence estimates also varied by sex and race/ethnicity. Males were four times more likely than females to be identified with ASD. Prevalence estimates were higher for non-Hispanic white (henceforth, white) children compared with non-Hispanic black (henceforth, black) children, and both groups were more likely to be identified with ASD compared with Hispanic children. Among the nine sites with sufficient data on intellectual ability, 31% of children with ASD were classified in the range of intellectual disability (intelligence quotient [IQ] <70), 25% were in the borderline range (IQ 71-85), and 44% had IQ scores in the average to above average range (i.e., IQ >85). The distribution of intellectual ability varied by sex and race/ethnicity. Although mention of developmental concerns by age 36 months was documented for 85% of children with ASD, only 42% had a comprehensive evaluation on record by age 36 months. The median age of earliest known ASD diagnosis was 52 months and did not differ significantly by sex or race/ethnicity. For the targeted comparison of DSM-IV-TR and DSM-5 results, the number and characteristics of children meeting the newly operationalized DSM-5 case definition for ASD were similar to those meeting the DSM-IV-TR case definition, with DSM-IV-TR case counts exceeding DSM-5 counts by less than 5% and approximately 86% overlap between the two case definitions (kappa = 0.85). INTERPRETATION: Findings from the ADDM Network, on the basis of 2014 data reported from 11 sites, provide updated population-based estimates of the prevalence of ASD among children aged 8 years in multiple communities in the United States. The overall ASD prevalence estimate of 16.8 per 1,000 children aged 8 years in 2014 is higher than previously reported estimates from the ADDM Network. Because the ADDM sites do not provide a representative sample of the entire United States, the combined prevalence estimates presented in this report cannot be generalized to all children aged 8 years in the United States. Consistent with reports from previous ADDM surveillance years, findings from 2014 were marked by variation in ASD prevalence when stratified by geographic area, sex, and level of intellectual ability. Differences in prevalence estimates between black and white children have diminished in most sites, but remained notable for Hispanic children. For 2014, results from application of the DSM-IV-TR and DSM-5 case definitions were similar, overall and when stratified by sex, race/ethnicity, DSM-IV-TR diagnostic subtype, or level of intellectual ability. PUBLIC HEALTH ACTION: Beginning with surveillance year 2016, the DSM-5 case definition will serve as the basis for ADDM estimates of ASD prevalence in future surveillance reports. Although the DSM-IV-TR case definition will eventually be phased out, it will be applied in a limited geographic area to offer additional data for comparison. Future analyses will examine trends in the continued use of DSM-IV-TR diagnoses, such as autistic disorder, PDD-NOS, and Asperger disorder in health and education records, documentation of symptoms consistent with DSM-5 terminology, and how these trends might influence estimates of ASD prevalence over time. The latest findings from the ADDM Network provide evidence that the prevalence of ASD is higher than previously reported estimates and continues to vary among certain racial/ethnic groups and communities. With prevalence of ASD ranging from 13.1 to 29.3 per 1,000 children aged 8 years in different communities throughout the United States, the need for behavioral, educational, residential, and occupational services remains high, as does the need for increased research on both genetic and nongenetic risk factors for ASD. |
Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.
Holmes MV , Dale CE , Zuccolo L , Silverwood RJ , Guo Y , Ye Z , Prieto-Merino D , Dehghan A , Trompet S , Wong A , Cavadino A , Drogan D , Padmanabhan S , Li S , Yesupriya A , Leusink M , Sundstrom J , Hubacek JA , Pikhart H , Swerdlow DI , Panayiotou AG , Borinskaya SA , Finan C , Shah S , Kuchenbaecker KB , Shah T , Engmann J , Folkersen L , Eriksson P , Ricceri F , Melander O , Sacerdote C , Gamble DM , Rayaprolu S , Ross OA , McLachlan S , Vikhireva O , Sluijs I , Scott RA , Adamkova V , Flicker L , Bockxmeer FM , Power C , Marques-Vidal P , Meade T , Marmot MG , Ferro JM , Paulos-Pinheiro S , Humphries SE , Talmud PJ , Mateo Leach I , Verweij N , Linneberg A , Skaaby T , Doevendans PA , Cramer MJ , Harst Pv , Klungel OH , Dowling NF , Dominiczak AF , Kumari M , Nicolaides AN , Weikert C , Boeing H , Ebrahim S , Gaunt TR , Price JF , Lannfelt L , Peasey A , Kubinova R , Pajak A , Malyutina S , Voevoda MI , Tamosiunas A , Maitland-van der Zee AH , Norman PE , Hankey GJ , Bergmann MM , Hofman A , Franco OH , Cooper J , Palmen J , Spiering W , Jong PA , Kuh D , Hardy R , Uitterlinden AG , Ikram MA , Ford I , Hypponen E , Almeida OP , Wareham NJ , Khaw KT , Hamsten A , Husemoen LL , Tjonneland A , Tolstrup JS , Rimm E , Beulens JW , Verschuren WM , Onland-Moret NC , Hofker MH , Wannamethee SG , Whincup PH , Morris R , Vicente AM , Watkins H , Farrall M , Jukema JW , Meschia J , Cupples LA , Sharp SJ , Fornage M , Kooperberg C , LaCroix AZ , Dai JY , Lanktree MB , Siscovick DS , Jorgenson E , Spring B , Coresh J , Li YR , Buxbaum SG , Schreiner PJ , Ellison RC , Tsai MY , Patel SR , Redline S , Johnson AD , Hoogeveen RC , Hakonarson H , Rotter JI , Boerwinkle E , Bakker PI , Kivimaki M , Asselbergs FW , Sattar N , Lawlor DA , Whittaker J , Davey Smith G , Mukamal K , Psaty BM , Wilson JG , Lange LA , Hamidovic A , Hingorani AD , Nordestgaard BG , Bobak M , Leon DA , Langenberg C , Palmer TM , Reiner AP , Keating BJ , Dudbridge F , Casas JP . BMJ 2014 349 g4164 OBJECTIVE: To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to investigate the causal role of alcohol in cardiovascular disease. DESIGN: Mendelian randomisation meta-analysis of 56 epidemiological studies. PARTICIPANTS: 261 991 individuals of European descent, including 20 259 coronary heart disease cases and 10 164 stroke events. Data were available on ADH1B rs1229984 variant, alcohol phenotypes, and cardiovascular biomarkers. MAIN OUTCOME MEASURES: Odds ratio for coronary heart disease and stroke associated with the ADH1B variant in all individuals and by categories of alcohol consumption. RESULTS: Carriers of the A-allele of ADH1B rs1229984 consumed 17.2% fewer units of alcohol per week (95% confidence interval 15.6% to 18.9%), had a lower prevalence of binge drinking (odds ratio 0.78 (95% CI 0.73 to 0.84)), and had higher abstention (odds ratio 1.27 (1.21 to 1.34)) than non-carriers. Rs1229984 A-allele carriers had lower systolic blood pressure (-0.88 (-1.19 to -0.56) mm Hg), interleukin-6 levels (-5.2% (-7.8 to -2.4%)), waist circumference (-0.3 (-0.6 to -0.1) cm), and body mass index (-0.17 (-0.24 to -0.10) kg/m(2)). Rs1229984 A-allele carriers had lower odds of coronary heart disease (odds ratio 0.90 (0.84 to 0.96)). The protective association of the ADH1B rs1229984 A-allele variant remained the same across all categories of alcohol consumption (P=0.83 for heterogeneity). Although no association of rs1229984 was identified with the combined subtypes of stroke, carriers of the A-allele had lower odds of ischaemic stroke (odds ratio 0.83 (0.72 to 0.95)). CONCLUSIONS: Individuals with a genetic variant associated with non-drinking and lower alcohol consumption had a more favourable cardiovascular profile and a reduced risk of coronary heart disease than those without the genetic variant. This suggests that reduction of alcohol consumption, even for light to moderate drinkers, is beneficial for cardiovascular health. |
Estimate of the potential impact of folic acid fortification of corn masa flour on the prevention of neural tube defects.
Tinker SC , Devine O , Mai C , Hamner HC , Reefhuis J , Gilboa SM , Dowling NF , Honein MA . Birth Defects Res A Clin Mol Teratol 2013 97 (10) 649-57 BACKGROUND: Hispanics in the US have a higher prevalence of neural tube defect (NTD) -affected pregnancies than non-Hispanic whites, and lower median total folic acid (FA) intake. FA fortification of corn masa flour (CMF) is a policy-level intervention for NTD prevention; however, the impact on NTD prevalence has not been estimated. METHODS: We developed a model to estimate the percentage reduction in prevalence of spina bifida and anencephaly (NTDs) that could occur with FA fortification of CMF. Model inputs included estimates of the percentage reduction in United States NTD prevalence attributed to FA fortification of enriched cereal grain products (1995-1996 vs. 1998-2002), the increase in median FA intake after enriched cereal grain product fortification, and the estimated increase in median FA intake that could occur with CMF fortification at the same level as enriched cereal grain products (140 mug/100 g). We used Monte Carlo simulation to quantify uncertainty. We stratified analyses by racial/ethnic group and rounded results to the nearest 10. RESULTS: We estimated CMF fortification could prevent 30 Hispanic infants from having spina bifida (95% uncertainty interval: 0, 80) and 10 infants from having anencephaly (95% uncertainty interval: 0, 40) annually. The estimated impact among non-Hispanic whites and blacks was smaller. CONCLUSION: CMF fortification with FA could prevent from 0 to 120 infants, with the most likely value of approximately 40, from having spina bifida or anencephaly among Hispanics, the population most likely to benefit from the proposed intervention. While this estimated reduction is unlikely to be discernible using current birth defect surveillance methods, it still suggests an important benefit to the target population. Birth Defects Research (Part A) 97:649-657, 2013. (c) 2013 Wiley Periodicals, Inc. |
Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III).
Grimsby JL , Porneala BC , Vassy JL , Yang Q , Florez JC , Dupuis J , Liu T , Yesupriya A , Chang MH , Ned RM , Dowling NF , Khoury MJ , Meigs JB . BMC Med Genet 2012 13 30 BACKGROUND: Hemoglobin A1c (HbA1c) levels diagnose diabetes, predict mortality and are associated with ten single nucleotide polymorphisms (SNPs) in white individuals. Genetic associations in other race groups are not known. We tested the hypotheses that there is race-ethnic variation in 1) HbA1c-associated risk allele frequencies (RAFs) for SNPs near SPTA1, HFE, ANK1, HK1, ATP11A, FN3K, TMPRSS6, G6PC2, GCK, MTNR1B; 2) association of SNPs with HbA1c and 3) association of SNPs with mortality. METHODS: We studied 3,041 non-diabetic individuals in the NHANES (National Health and Nutrition Examination Survey) III. We stratified the analysis by race/ethnicity (NHW: non-Hispanic white; NHB: non-Hispanic black; MA: Mexican American) to calculate RAF, calculated a genotype score by adding risk SNPs, and tested associations with SNPs and the genotype score using an additive genetic model, with type 1 error = 0.05. RESULTS: RAFs varied widely and at six loci race-ethnic differences in RAF were significant (p < 0.0002), with NHB usually the most divergent. For instance, at ATP11A, the SNP RAF was 54% in NHB, 18% in MA and 14% in NHW (p < .0001). The mean genotype score differed by race-ethnicity (NHW: 10.4, NHB: 11.0, MA: 10.7, p < .0001), and was associated with increase in HbA1c in NHW (β = 0.012 HbA1c increase per risk allele, p = 0.04) and MA (β = 0.021, p = 0.005) but not NHB (β = 0.007, p = 0.39). The genotype score was not associated with mortality in any group (NHW: OR (per risk allele increase in mortality) = 1.07, p = 0.09; NHB: OR = 1.04, p = 0.39; MA: OR = 1.03, p = 0.71). CONCLUSION: At many HbA1c loci in NHANES III there is substantial RAF race-ethnic heterogeneity. The combined impact of common HbA1c-associated variants on HbA1c levels varied by race-ethnicity, but did not influence mortality. |
No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels.
Scott RA , Chu AY , Grarup N , Manning AK , Hivert MF , Shungin D , Tonjes A , Yesupriya A , Barnes D , Bouatia-Naji N , Glazer NL , Jackson AU , Kutalik Z , Lagou V , Marek D , Rasmussen-Torvik LJ , Stringham HM , Tanaka T , Aadahl M , Arking DE , Bergmann S , Boerwinkle E , Bonnycastle LL , Bornstein SR , Brunner E , Bumpstead SJ , Brage S , Carlson OD , Chen H , Chen YD , Chines PS , Collins FS , Couper DJ , Dennison EM , Dowling NF , Egan JS , Ekelund U , Erdos MR , Forouhi NG , Fox CS , Goodarzi MO , Grässler J , Gustafsson S , Hallmans G , Hansen T , Hingorani A , Holloway JW , Hu FB , Isomaa B , Jameson KA , Johansson I , Jonsson A , Jørgensen T , Kivimaki M , Kovacs P , Kumari M , Kuusisto J , Laakso M , Lecoeur C , Lévy-Marchal C , Li G , Loos RJ , Lyssenko V , Marmot M , Marques-Vidal P , Morken MA , Müller G , North KE , Pankow JS , Payne F , Prokopenko I , Psaty BM , Renström F , Rice K , Rotter JI , Rybin D , Sandholt CH , Sayer AA , Shrader P , Schwarz PE , Siscovick DS , Stancáková A , Stumvoll M , Teslovich TM , Waeber G , Williams GH , Witte DR , Wood AR , Xie W , Boehnke M , Cooper C , Ferrucci L , Froguel P , Groop L , Kao WH , Vollenweider P , Walker M , Watanabe RM , Pedersen O , Meigs JB , Ingelsson E , Barroso I , Florez JC , Franks PW , Dupuis J , Wareham NJ , Langenberg C . Diabetes 2012 61 (5) 1291-6 Gene-lifestyle interactions have been suggested to contribute to the development of type 2 diabetes. Glucose levels 2 h after a standard 75-g glucose challenge are used to diagnose diabetes and are associated with both genetic and lifestyle factors. However, whether these factors interact to determine 2-h glucose levels is unknown. We meta-analyzed single nucleotide polymorphism (SNP) x BMI and SNP x physical activity (PA) interaction regression models for five SNPs previously associated with 2-h glucose levels from up to 22 studies comprising 54,884 individuals without diabetes. PA levels were dichotomized, with individuals below the first quintile classified as inactive (20%) and the remainder as active (80%). BMI was considered a continuous trait. Inactive individuals had higher 2-h glucose levels than active individuals (beta = 0.22 mmol/L [95% CI 0.13-0.31], P = 1.63 x 10(-6)). All SNPs were associated with 2-h glucose (beta = 0.06-0.12 mmol/allele, P ≤ 1.53 x 10(-7)), but no significant interactions were found with PA (P > 0.18) or BMI (P ≥ 0.04). In this large study of gene-lifestyle interaction, we observed no interactions between genetic and lifestyle factors, both of which were associated with 2-h glucose. It is perhaps unlikely that top loci from genome-wide association studies will exhibit strong subgroup-specific effects, and may not, therefore, make the best candidates for the study of interactions. |
Trends in population-based studies of human genetics in infectious diseases.
Rowell JL , Dowling NF , Yu W , Yesupriya A , Zhang L , Gwinn M . PLoS One 2012 7 (2) e25431 Pathogen genetics is already a mainstay of public health investigation and control efforts; now advances in technology make it possible to investigate the role of human genetic variation in the epidemiology of infectious diseases. To describe trends in this field, we analyzed articles that were published from 2001 through 2010 and indexed by the HuGE Navigator, a curated online database of PubMed abstracts in human genome epidemiology. We extracted the principal findings from all meta-analyses and genome-wide association studies (GWAS) with an infectious disease-related outcome. Finally, we compared the representation of diseases in HuGE Navigator with their contributions to morbidity worldwide. We identified 3,730 articles on infectious diseases, including 27 meta-analyses and 23 GWAS. The number published each year increased from 148 in 2001 to 543 in 2010 but remained a small fraction (about 7%) of all studies in human genome epidemiology. Most articles were by authors from developed countries, but the percentage by authors from resource-limited countries increased from 9% to 25% during the period studied. The most commonly studied diseases were HIV/AIDS, tuberculosis, hepatitis B infection, hepatitis C infection, sepsis, and malaria. As genomic research methods become more affordable and accessible, population-based research on infectious diseases will be able to examine the role of variation in human as well as pathogen genomes. This approach offers new opportunities for understanding infectious disease susceptibility, severity, treatment, control, and prevention. |
A pilot study of host genetic variants associated with influenza-associated deaths among children and young adults.
Ferdinands JM , Denison AM , Dowling NF , Jost HA , Gwinn ML , Liu L , Zaki SR , Shay DK . Emerg Infect Dis 2011 17 (12) 2294-302 We compared the prevalence of 8 polymorphisms in the tumor necrosis factor and mannose-binding lectin genes among 105 children and young adults with fatal influenza with US population estimates and determined in subanalyses whether these polymorphisms were associated with sudden death and bacterial co-infection among persons with fatal influenza. No differences were observed in genotype prevalence or minor allele frequencies between persons with fatal influenza and the reference sample. Fatal cases with low-producing MBL2 genotypes had a 7-fold increased risk for invasive methicillin-resistant Staphylococcus aureus (MRSA) co-infection compared with fatal cases with high- and intermediate-producing MBL2 genotypes (odds ratio 7.1, 95% confidence interval 1.6-32.1). Limited analysis of 2 genes important to the innate immune response found no association between genetic variants and fatal influenza infection. Among children and young adults who died of influenza, low-producing MBL2 genotypes may have increased risk for MRSA co-infection. |
Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.
Janssens AC , Ioannidis JP , Bedrosian S , Boffetta P , Dolan SM , Dowling N , Fortier I , Freedman AN , Grimshaw JM , Gulcher J , Gwinn M , Hlatky MA , Janes H , Kraft P , Melillo S , O'Donnell CJ , Pencina MJ , Ransohoff D , Schully SD , Seminara D , Winn DM , Wright CF , van Duijn CM , Little J , Khoury MJ . Eur J Epidemiol 2011 26 (4) 313-37 The rapid and continuing progress in gene discovery for complex diseases is fuelling interest in the potential application of genetic risk models for clinical and public health practice. The number of studies assessing the predictive ability is steadily increasing, but they vary widely in completeness of reporting and apparent quality. Transparent reporting of the strengths and weaknesses of these studies is important to facilitate the accumulation of evidence on genetic risk prediction. A multidisciplinary workshop sponsored by the Human Genome Epidemiology Network developed a checklist of 25 items recommended for strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS), building on the principles established by prior reporting guidelines. These recommendations aim to enhance the transparency, quality and completeness of study reporting, and thereby to improve the synthesis and application of information from multiple studies that might differ in design, conduct or analysis. |
Strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS): explanation and elaboration.
Janssens AC , Ioannidis JP , Bedrosian S , Boffetta P , Dolan SM , Dowling N , Fortier I , Freedman AN , Grimshaw JM , Gulcher J , Gwinn M , Hlatky MA , Janes H , Kraft P , Melillo S , O'Donnell CJ , Pencina MJ , Ransohoff D , Schully SD , Seminara D , Winn DM , Wright CF , van Duijn CM , Little J , Khoury MJ . J Clin Epidemiol 2011 64 (8) e1-e22 The rapid and continuing progress in gene discovery for complex diseases is fuelling interest in the potential application of genetic risk models for clinical and public health practice. The number of studies assessing the predictive ability is steadily increasing, but they vary widely in completeness of reporting and apparent quality. Transparent reporting of the strengths and weaknesses of these studies is important to facilitate the accumulation of evidence on genetic risk prediction. A multidisciplinary workshop sponsored by the Human Genome Epidemiology Network developed a checklist of 25 items recommended for strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS), building on the principles established by prior reporting guidelines. These recommendations aim to enhance the transparency, quality and completeness of study reporting, and thereby to improve the synthesis and application of information from multiple studies that might differ in design, conduct or analysis. |
Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.
Janssens AC , Ioannidis JP , Bedrosian S , Boffetta P , Dolan SM , Dowling N , Fortier I , Freedman AN , Grimshaw JM , Gulcher J , Gwinn M , Hlatky MA , Janes H , Kraft P , Melillo S , O'Donnell CJ , Pencina MJ , Ransohoff D , Schully SD , Seminara D , Winn DM , Wright CF , van Duijn CM , Little J , Khoury MJ . Eur J Hum Genet 2011 19 (5) 18 p preceding 494 The rapid and continuing progress in gene discovery for complex diseases is fueling interest in the potential application of genetic risk models for clinical and public health practice. The number of studies assessing the predictive ability is steadily increasing, but they vary widely in completeness of reporting and apparent quality. Transparent reporting of the strengths and weaknesses of these studies is important to facilitate the accumulation of evidence on genetic risk prediction. A multidisciplinary workshop sponsored by the Human Genome Epidemiology Network developed a checklist of 25 items recommended for strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS), building on the principles established by previous reporting guidelines. These recommendations aim to enhance the transparency, quality and completeness of study reporting, and thereby to improve the synthesis and application of information from multiple studies that might differ in design, conduct or analysis. |
Genetic associations with metabolic syndrome and its quantitative traits by race/ethnicity in the United States.
Vassy JL , Shrader P , Yang Q , Liu T , Yesupriya A , Chang MH , Dowling NF , Ned RM , Dupuis J , Florez JC , Khoury MJ , Meigs JB . Metab Syndr Relat Disord 2011 9 (6) 475-82 BACKGROUND: Elevated insulin resistance (IR), triglycerides (TG), body mass index (BMI), and waist circumference (WC) are features of the metabolic syndrome. Although several single-nucleotide polymorphisms (SNPs) associated with these traits have been reported, no study has reported their risk allele frequencies and effect sizes among the major U.S. race/ethnic groups in a nationally representative sample. METHODS: We compared the risk allele frequencies of eight SNPs previously associated with IR, TG, BMI, or WC by race/ethnicity (non-Hispanic white, non-Hispanic black, Mexican American) in 3,030 participants of the National Health and Nutrition Examination Study III (NHANES III). In regression models predicting IR, TG, BMI, WC, and metabolic syndrome, we tested whether the SNP effect sizes on these traits varied by race/ethnicity. RESULTS: Risk allele frequencies varied by race/ethnicity for all eight loci (P<0.0001). The directionality of effects of the variants on IR, TG, WC, and BMI was generally consistent with previous observations and did not differ by race/ethnicity (P>0.001), although our study had low power for this test. No SNP predicted metabolic syndrome in any of the three groups (P>0.05). CONCLUSIONS: The significance of racial/ethnic differences in risk allele frequencies merits consideration if genetic discoveries are to have clinical and public health applicability. |
Variants in ABCB1, TGFB1, and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans.
Zhang L , Yesupriya A , Hu DJ , Chang MH , Dowling NF , Ned RM , Udhayakumar V , Lindegren ML , Khudyakov Y . Hepatology 2011 55 (4) 1008-18 Hepatitis A vaccination has dramatically reduced the incidence of hepatitis A virus (HAV) infection, but new infections continue to occur. To identify human genetic variants conferring a risk for HAV infection among the three major racial/ethnic populations in the United States, we assess associations between 67 genetic variants (single nucleotide polymorphisms, 'SNPs') among 31 candidate genes and serologic evidence of prior HAV infection using a population-based, cross-sectional study of 6779 participants, including 2619 non-Hispanic whites, 2095 non-Hispanic blacks, and 2065 Mexican Americans, enrolled in phase 2 (1991-1994) of the Third National Health and Nutrition Examination Survey. Among the three racial/ethnic groups, the number (weighted frequency) of seropositivity for antibody to HAV (anti-HAV) was 958 (24.9%), 802 (39.2%), and 1540 (71.5%), respectively. No significant associations with any of the 67 SNPs were observed among non-Hispanic whites or non-Hispanic blacks. In contrast, among Mexican Americans, variants in two genes were found to be associated with an increased risk of HAV infection: TGFB1 rs1800469 (adjusted odds ratio [OR] = 1.38; 95% confidence interval [CI], 1.14-1.68; p-value adjusted for false discovery rate [FDR-P] = 0.017) and XRCC1 rs1799782 (OR = 1.57; 95% CI, 1.27-1.94; FDR-P = 0.0007). A decreased risk was found with ABCB1 rs1045642 (OR = 0.79; 95% CI, 0.71-0.89; FDR-P = 0.0007). CONCLUSIONS: Genetic variants in ABCB1, TGFB1, and XRCC1 appear to be associated with susceptibility to HAV infection among Mexican Americans. Replication studies involving larger population samples are warranted. (HEPATOLOGY 2011). |
The ACE I/D polymorphism in US adults: limited evidence of association with hypertension-related traits and sex-specific effects by race/ethnicity.
Ned RM , Yesupriya A , Imperatore G , Smelser DT , Moonesinghe R , Chang MH , Dowling NF . Am J Hypertens 2011 25 (2) 209-15 BACKGROUND: The insertion/deletion (I/D) variant (rs4646994) of the angiotensin I-converting enzyme (ACE) gene is one of the most studied polymorphisms in relation to blood pressure and essential hypertension in humans. The evidence to date, however, on an association of this variant with blood pressure-related outcomes has been inconclusive. METHODS: We examined 5,561 participants of the Third National Health and Nutrition Examination Survey (NHANES III), a population-based and nationally representative survey of the United States, who were ≥20 years of age and who self-identified as non-Hispanic white, non-Hispanic black, or Mexican American. Within each race/ethnicity, we assessed genetic associations of the I/D variant with systolic blood pressure (SBP), diastolic blood pressure (DBP), and hypertension, as well as genotype-sex interactions, in four genetic models (additive, dominant, recessive, and codominant). RESULTS: The frequency of the I/D variant differed significantly by race/ethnicity (P = 0.001). Among non-Hispanic blacks, the D allele was significantly associated (P < 0.05) with increased SBP in additive and dominant covariate-adjusted models and was also associated with increased DBP in dominant models when participants taking ACE inhibitors were excluded from the analyses. No other significant associations were observed in any race/ethnic group. Significant genotype-sex interactions were detected among Mexican Americans, for whom positive associations with SBP and hypertension were seen among females, but not males. CONCLUSIONS: This study gives limited support for association of the ACE I/D variant with blood pressure and for sex-specific effects among particular race/ethnic groups, though we cannot rule out the role of genetic or environmental interactions. |
Influence of familial risk on diabetes risk-reducing behaviors among U.S. adults without diabetes.
Chang MH , Valdez R , Ned RM , Liu T , Yang Q , Yesupriya A , Dowling NF , Meigs JB , Bowen MS , Khoury MJ . Diabetes Care 2011 34 (11) 2393-9 OBJECTIVE: To test the association of family history of diabetes with the adoption of diabetes risk-reducing behaviors and whether this association is strengthened by physician advice or commonly known factors associated with diabetes risk. RESEARCH DESIGN AND METHODS: We used cross-sectional data from the 2005-2008 National Health and Nutrition Examination Survey (NHANES) to examine the effects of family history of diabetes on the adoption of selected risk-reducing behaviors in 8,598 adults (aged ≥20 years) without diabetes. We used multiple logistic regression to model three risk reduction behaviors (controlling or losing weight, increasing physical activity, and reducing the amount of dietary fat or calories) with family history of diabetes. RESULTS: Overall, 36.2% of U.S. adults without diabetes had a family history of diabetes. Among them, ~39.8% reported receiving advice from a physician during the past year regarding any of the three selected behaviors compared with 29.2% of participants with no family history (P < 0.01). In univariate analysis, adults with a family history of diabetes were more likely to perform these risk-reducing behaviors compared with adults without a family history. Physician advice was strongly associated with each of the behavioral changes (P < 0.01), and this did not differ by family history of diabetes. CONCLUSIONS: Familial risk for diabetes and physician advice both independently influence the adoption of diabetes risk-reducing behaviors. However, fewer than half of participants with familial risk reported receiving physician advice for adopting these behaviors. |
Racial/ethnic variation in the association of lipid-related genetic variants with blood lipids in the US adult population.
Chang MH , Ned RM , Hong Y , Yesupriya A , Yang Q , Liu T , Janssens AC , Dowling NF . Circ Cardiovasc Genet 2011 4 (5) 523-33 BACKGROUND: Genome-wide association studies (GWAS) have identified a number of single nucleotide polymorphisms (SNPs) associated with serum lipid level in populations of European descent. The individual and the cumulative effect of these SNPs on blood lipids are largely unclear for the U.S. population. METHODS AND RESULTS: Using data from the second phase (1991-1994) of the Third National Health and Nutrition Examination Survey (NHANES III), a nationally-representative survey of the U.S. population, we examined associations of 57 GWAS-identified or well-established lipid-related genetic loci with plasma concentrations of high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), triglycerides (TG), TC/HDL-C ratio, and non-HDL-C. We used multivariable linear regression to examine single SNP associations and the cumulative effect of multiple SNPs (using a genetic risk score, GRS) on blood lipid levels. Analyses were conducted in adults for each of the three major racial/ethnic groups in the U.S.: non-Hispanic whites (n = 2,296), non-Hispanic blacks (n = 1,699), and Mexican Americans (n = 1,713). Allele frequencies for all SNPs varied significantly by race/ethnicity, except rs3764261 in CETP. Individual SNPs had very small effects on lipid levels, effects that were generally consistent in direction across racial/ethnic groups. More GWAS-validated SNPs were replicated in non-Hispanic whites (< 67%) than in non-Hispanic blacks (< 44%) or Mexican Americans (< 44%). Genetic risk scores were strongly associated with increased lipid levels in each race/ethnic group. The combination of all SNPs into a weighted GRS explained no more than 11% of the total variance in blood lipid levels. CONCLUSIONS: Our findings show that the combined association of SNPs, based on a genetic risk score, was strongly associated with increased blood lipid measures in all major race/ethnic groups in the U.S., which may help in identifying subgroups with a high risk for an unfavorable lipid profile. |
GWAS Integrator: a bioinformatics tool to explore human genetic associations reported in published genome-wide association studies.
Yu W , Yesupriya A , Wulf A , Hindorff LA , Dowling N , Khoury MJ , Gwinn M . Eur J Hum Genet 2011 19 (10) 1095-9 Genome-wide association studies (GWAS) have successfully identified numerous genetic loci that are associated with phenotypic traits and diseases. GWAS Integrator is a bioinformatics tool that integrates information on these associations from the National Human Genome Research institute (NHGRI) Catalog, SNAP (SNP Annotation and Proxy Search), and the Human Genome Epidemiology (HuGE) Navigator literature database. This tool includes robust search and data mining functionalities that can be used to quickly identify relevant associations from GWAS, as well as proxy single-nucleotide polymorphisms (SNPs) and potential candidate genes. Query-based University of California Santa Cruz (UCSC) Genome Browser custom tracks are generated dynamically on the basis of users' selected GWAS hits or candidate genes from HuGE Navigator literature database (http://www.hugenavigator.net/HuGENavigator/gWAHitStartPage.do). The GWAS Integrator may help enhance inference on potential genetic associations identified from GWAS studies. European Journal of Human Genetics advance online publication, 25 May 2011; doi:10.1038/ejhg.2011.91. |
Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.
Janssens AC , Ioannidis JP , Bedrosian S , Boffetta P , Dolan SM , Dowling N , Fortier I , Freedman AN , Grimshaw JM , Gulcher J , Gwinn M , Hlatky MA , Janes H , Kraft P , Melillo S , O'Donnell CJ , Pencina MJ , Ransohoff D , Schully SD , Seminara D , Winn DM , Wright CF , van Duijn CM , Little J , Khoury MJ . Eur J Clin Invest 2011 41 (9) 1010-35 SUMMARY POINTS: *The rapid and continuing progress in gene discovery for complex diseases is fuelling interest in the potential application of genetic risk models for clinical and public health practice. *The number of studies assessing the predictive ability is steadily increasing, but they vary widely in completeness of reporting and apparent quality. *Transparent reporting of the strengths and weaknesses of these studies is important to facilitate the accumulation of evidence on genetic risk prediction. *A multidisciplinary workshop sponsored by the Human Genome Epidemiology Network developed a checklist of 25 items recommended for strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS), building on the principles established by prior reporting guidelines. *These recommendations aim to enhance the transparency, quality and completeness of study reporting and thereby to improve the synthesis and application of information from multiple studies that might differ in design, conduct or analysis. |
Current priorities for public health practice in addressing the role of human genomics in improving population health.
Khoury MJ , Bowen MS , Burke W , Coates RJ , Dowling NF , Evans JP , Reyes M , St Pierre J . Am J Prev Med 2011 40 (4) 486-93 In spite of accelerating human genome discoveries in a wide variety of diseases of public health significance, the promise of personalized health care and disease prevention based on genomics has lagged behind. In a time of limited resources, public health agencies must continue to focus on implementing programs that can improve health and prevent disease now. Nevertheless, public health has an important and assertive leadership role in addressing the promise and pitfalls of human genomics for population health. Such efforts are needed not only to implement what is known in genomics to improve health but also to reduce potential harm and create the infrastructure needed to derive health benefits in the future. |
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