JAMA最新文献

{"title":"Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.","authors":"Alban Ziegler,Carrie Koval-Burt,Denise M Kay,Sharon F Suchy,Amber Begtrup,Katherine G Langley,Rebecca Hernan,Laura M Amendola,Brenna M Boyd,Jennifer Bradley,Tracy Brandt,Lilian L Cohen,Alison J Coffey,Joseph M Devaney,Beata Dygulska,Bethany Friedman,Ramsay L Fuleihan,Awura Gyimah,Sihoun Hahn,Sean Hofherr,Kathleen S Hruska,Zhanzhi Hu,Médéric Jeanne,Guanjun Jin,D Aaron Johnson,Haluk Kavus,Rudolph L Leibel,Steven J Lobritto,Stephen McGee,Joshua D Milner,Kirsty McWalter,Kristin G Monaghan,Jordan S Orange,Nicole Pimentel Soler,Yeyson Quevedo,Samantha Ratner,Kyle Retterer,Ankur Shah,Natasha Shapiro,Robert J Sicko,Eric S Silver,Samuel Strom,Rebecca I Torene,Olatundun Williams,Vincent D Ustach,Julia Wynn,Ryan J Taft,Paul Kruszka,Michele Caggana,Wendy K Chung","doi":"10.1001/jama.2024.19662","DOIUrl":"https://doi.org/10.1001/jama.2024.19662","url":null,"abstract":"ImportanceThe feasibility of implementing genome sequencing as an adjunct to traditional newborn screening (NBS) in newborns of different racial and ethnic groups is not well understood.ObjectiveTo report interim results of acceptability, feasibility, and outcomes of an ongoing genomic NBS study in a diverse population in New York City within the context of the New York State Department of Health Newborn Screening Program.Design, Setting, and ParticipantsThe Genomic Uniform-screening Against Rare Disease in All Newborns (GUARDIAN) study was a multisite, single-group, prospective, observational investigation of supplemental newborn genome screening with a planned enrollment of 100 000 participants. Parent-reported race and ethnicity were recorded at the time of recruitment. Results of the first 4000 newborns enrolled in 6 New York City hospitals between September 2022 and July 2023 are reported here as part of a prespecified interim analysis.ExposureSequencing of 156 early-onset genetic conditions with established interventions selected by the investigators were screened in all participants and 99 neurodevelopmental disorders associated with seizures were optional.Main Outcomes and MeasuresThe primary outcome was screen-positive rate. Additional outcomes included enrollment rate and successful completion of sequencing.ResultsOver 11 months, 5555 families were approached and 4000 (72.0%) consented to participate. Enrolled participants reflected a diverse group by parent-reported race (American Indian or Alaska Native, 0.5%; Asian, 16.5%; Black, 25.1%; Native Hawaiian or Other Pacific Islander, 0.1%; White, 44.7%; 2 or more races, 13.0%) and ethnicity (Hispanic, 44.0%; not Hispanic, 56.0%). The majority of families consented to screening of both groups of conditions (both groups, 90.6%; disorders with established interventions only, 9.4%). Testing was successfully completed for 99.6% of cases. The screen-positive rate was 3.7%, including treatable conditions that are not currently included in NBS.Conclusions and RelevanceThese interim findings demonstrate the feasibility of targeted interpretation of a predefined set of genes from genome sequencing in a population of different racial and ethnic groups. DNA sequencing offers an additional method to improve screening for conditions already included in NBS and to add those that cannot be readily screened because there is no biomarker currently detectable in dried blood spots. Additional studies are required to understand if these findings are generalizable to populations of different racial and ethnic groups and whether introduction of sequencing leads to changes in management and improved health outcomes.Trial RegistrationClinicalTrials.gov Identifier: NCT05990179.","PeriodicalId":518009,"journal":{"name":"JAMA","volume":"236 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142489341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fecal Immunochemical Test Positivity Threshold vs Multitarget Genetic Stool Testing for Colorectal Cancer Screening.","authors":"Fan Yang,Dan Ma","doi":"10.1001/jama.2024.18535","DOIUrl":"https://doi.org/10.1001/jama.2024.18535","url":null,"abstract":"","PeriodicalId":518009,"journal":{"name":"JAMA","volume":"97 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142489725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fecal Immunochemical Test Positivity Threshold vs Multitarget Genetic Stool Testing for Colorectal Cancer Screening-Reply.","authors":"Hermann Brenner,Teresa Seum,Michael Hoffmeister","doi":"10.1001/jama.2024.18538","DOIUrl":"https://doi.org/10.1001/jama.2024.18538","url":null,"abstract":"","PeriodicalId":518009,"journal":{"name":"JAMA","volume":"31 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142489342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"GLP-1 Receptor Agonist and SGLT2 Inhibitor Prescribing in People With Type 1 Diabetes.","authors":"Piaopiao Li,Zhiyan Li,Elizabeth Staton,Guillermo E Umpierrez,Georgia Davis,Hui Shao,Francisco J Pasquel","doi":"10.1001/jama.2024.18581","DOIUrl":"https://doi.org/10.1001/jama.2024.18581","url":null,"abstract":"","PeriodicalId":518009,"journal":{"name":"JAMA","volume":"63 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142488260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dialysis Facility Staffing Ratios and Kidney Transplant Access Among Adolescents and Young Adults","authors":"Alexandra C. Bicki, Barbara Grimes, Charles E. McCulloch, Timothy P. Copeland, Elaine Ku","doi":"10.1001/jama.2024.18210","DOIUrl":"https://doi.org/10.1001/jama.2024.18210","url":null,"abstract":"ImportancePatient to staff ratios vary across US dialysis facilities and have been associated with patient outcomes in older adults.ObjectiveTo determine whether patient to nurse or patient to social worker staff ratios are associated with access to kidney transplant for adolescents and young adults.Design, Setting, and ParticipantsRetrospective cohort study including patients aged 12 to 30 years who started dialysis between 2005 and 2019 at 8490 US facilities according to the US Renal Data System, the national end-stage kidney disease registry.ExposuresTime-updated quartile of patient to nurse and patient to social worker ratios at dialysis facilities.Main Outcomes and MeasuresFine-Gray models were used to relate the exposure to the incidence of waitlisting and kidney transplant, accounting for the competing risk of death. Subgroup analysis by age at dialysis initiation (<22 vs ≥22 years) was performed. Follow-up was censored in January 2020.ResultsA total of 54 141 participants were included (median age, 25 years [IQR, 21-28]; 54.4% male; 4.3% of Asian race, 35.3% of non-Hispanic Black race). The median patient to staff ratios were 14.4 patients per nurse (IQR, 10.3-18.9) and 91.0 patients per social worker (IQR, 65.2-115.0). During a median follow-up of 2.6 years, 39.9% of patients (n = 21 598) received a transplant. In adjusted analysis, the highest (vs lowest) quartile of patient to nurse ratios was associated with 14% lower incidence of transplant (subhazard ratio [SHR], 0.86 [95% CI, 0.82-0.91]). The highest (vs lowest) quartile of patient to social worker ratios was associated with lower incidence of waitlisting (SHR, 0.95 [95% CI, 0.91-0.99]) and transplant (SHR, 0.85 [95% CI, 0.81-0.89]). For both staff ratios, there was an interaction with age at dialysis initiation, such that the association was more pronounced in patients starting dialysis at younger than 22 years (SHR, 0.71 [95% CI, 0.65-0.78] for the highest vs lowest quartile for nursing; SHR, 0.74 [95% CI, 0.68-0.80] for social work) compared with those 22 years and older (SHR, 1.00 [95% CI, 0.94-1.06] for nursing; SHR, 0.96 [95% CI, 0.91-1.02] for social work) for the outcome of transplant.Conclusions and RelevanceAdolescents and young adults receiving care at dialysis facilities with higher patient to staff ratios had reduced access to waitlisting and transplant, particularly if they were younger than 22 years of age at dialysis initiation.","PeriodicalId":518009,"journal":{"name":"JAMA","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142487796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevention of Anal Cancer in High-Risk Individuals","authors":"Joel M. Palefsky","doi":"10.1001/jama.2024.17870","DOIUrl":"https://doi.org/10.1001/jama.2024.17870","url":null,"abstract":"This JAMA Insights examines the treatment and rising prevalence of anal cancer in the US in high-risk groups, including people with HIV and immunosuppression associated with solid organ transplant.","PeriodicalId":518009,"journal":{"name":"JAMA","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142487798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Strategies to Help Patients Afford Their Medicines in the US.","authors":"Kristin L Walter","doi":"10.1001/jama.2024.21143","DOIUrl":"https://doi.org/10.1001/jama.2024.21143","url":null,"abstract":"","PeriodicalId":518009,"journal":{"name":"JAMA","volume":"79 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142486373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Adoption of Expanded Gender Options in National Provider Identifiers","authors":"Jae Corman, Julia Przedworski","doi":"10.1001/jama.2024.18571","DOIUrl":"https://doi.org/10.1001/jama.2024.18571","url":null,"abstract":"This study examines the prevalence and characteristics of US clinicians who registered for a National Provider Identifier and selected expanded gender options after these new options became available in April 2024.","PeriodicalId":518009,"journal":{"name":"JAMA","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142452181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Three vs 6 Cycles of Chemotherapy for High-Risk Retinoblastoma","authors":"Huijing Ye, Kang Xue, Ping Zhang, Rongxin Chen, Xiaowen Zhai, Li Ling, Wei Xiao, Lijuan Tang, Hongsheng Wang, Yuxiang Mao, Siming Ai, Yingwen Bi, Qing Liu, Yusha Zou, Jiang Qian, Huasheng Yang","doi":"10.1001/jama.2024.19981","DOIUrl":"https://doi.org/10.1001/jama.2024.19981","url":null,"abstract":"ImportanceAdjuvant therapy is an important and effective treatment for retinoblastoma. However, there is a lack of head-to-head clinical trials comparing 3 vs 6 cycles of CEV chemotherapy (carboplatin, etoposide, and vincristine) for enucleated unilateral retinoblastoma with high-risk pathological features.ObjectiveTo assess whether 3 cycles of CEV chemotherapy is noninferior to 6 cycles for enucleated unilateral retinoblastoma with high-risk pathological features.Design, Setting, and ParticipantsThis double-center, randomized, open-label, noninferiority trial was conducted at 2 premier eye centers in China and included 187 patients who had undergone enucleation for unilateral retinoblastoma with high-risk pathological features (massive choroidal infiltration, retrolaminar optic nerve invasion, or scleral infiltration) between August 2013 and March 2024. The final date of follow-up was March 21, 2024.InterventionsPatients were randomly assigned to receive either 3 (n = 94) or 6 (n = 93) cycles of CEV chemotherapy regimen after enucleation.Main Outcomes and MeasuresThe primary end point was disease-free survival, with a noninferiority margin of 12%. Secondary end points encompassed overall survival, safety, economic burden, and the quality of life of children.ResultsAll 187 patients (median [IQR] age, 25.0 [20.0-37.0] months; 83 [44.4%] female) completed the trial. Median (IQR) follow-up was 79.0 (65.5-102.5) months. Five-year disease-free survival was 90.4% for the 3-cycle group vs 89.2% for the 6-cycle group (difference, 1.2% [95% CI, −7.5% to 9.8%]), which met the noninferiority criterion (<jats:italic>P</jats:italic> = .003 for noninferiority). The 6-cycle group experienced a higher frequency of adverse events, greater reduction in quality of life scores, and increased costs compared with the 3-cycle group.Conclusions and RelevanceAmong patients with unilateral pathologic high-risk retinoblastoma, 3 cycles of CEV chemotherapy resulted in 5-year disease-free survival that was noninferior to 6 cycles of CEV chemotherapy.Trial RegistrationClinicalTrials.gov Identifier: <jats:ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" ext-link-type=\"uri\" xlink:href=\"https://clinicaltrials.gov/study/NCT01906814\">NCT01906814</jats:ext-link>","PeriodicalId":518009,"journal":{"name":"JAMA","volume":"85 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142452242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Strategies to Help Patients Navigate High Prescription Drug Costs","authors":"Hussain S. Lalani, Catherine S. Hwang, Aaron S. Kesselheim, Benjamin N. Rome","doi":"10.1001/jama.2024.17275","DOIUrl":"https://doi.org/10.1001/jama.2024.17275","url":null,"abstract":"ImportanceIn the US, many patients struggle to afford prescription drugs, leading to adverse health outcomes. To improve cost-related medication nonadherence, prescribers and clinical staff must understand how to assist patients in overcoming high prescription drug costs.ObservationsWe reviewed the benefits and limitations of 7 strategies to help patients afford prescription drugs: co-payment cards, patient assistance programs, pharmacy coupons, direct-to-consumer pharmacies, public assistance programs, international online pharmacies, and real-time prescription benefit tools. We created an algorithm to help clinicians identify appropriate strategies based on a patient’s health insurance and the type of drug (brand-name vs generic). For example, co-payment cards can lower out-of-pocket costs for privately insured patients taking brand-name prescription drugs. For uninsured individuals or those with public insurance like Medicare Part D who meet financial eligibility criteria, patient assistance or public assistance programs may be available. All patients, regardless of health insurance, can forgo insurance and purchase drugs directly using pharmacy coupons or direct-to-consumer pharmacies, which sometimes offer lower prices for generic drugs compared to insurance. For insured patients, such purchases do not count toward insurance deductibles or annual out-of-pocket maximums. Online international pharmacies provide a last resort for patients in need of brand-name drugs who lack affordable domestic options. Increasingly, prescribers can use real-time prescription drug benefit tools to estimate patient out-of-pocket costs and identify alternative lower-cost treatments for insured patients, but these tools can be inaccurate or incomplete.Conclusions and RelevanceThe current patchwork of strategies to help patients manage high prescription drug costs highlights the structural and policy challenges within the US prescription drug market that impede affordable access for some patients. While these strategies provide tangible solutions for clinicians to help patients access medically appropriate but costly medications, they do not address the root causes of high drug prices.","PeriodicalId":518009,"journal":{"name":"JAMA","volume":"75 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142452239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}