Abstract:
Importance:A critical bottleneck in clinical genomics is the mismatch between large volumes of results and the availability of knowledgeable professionals to return them. Objective:To test whether a web-based platform is noninferior to a genetic counselor for educating patients about their carrier results from exome sequencing. Design, Setting, and Participants:A randomized noninferiority trial conducted in a longitudinal sequencing cohort at the National Institutes of Health from February 5, 2014, to December 16, 2016, was used to compare the web-based platform with a genetic counselor. Among the 571 eligible participants, 1 to 7 heterozygous variants were identified in genes that cause a phenotype that is recessively inherited. Surveys were administered after cohort enrollment, immediately following trial education, and 1 month and 6 months later to primarily healthy postreproductive participants who expressed interest in learning their carrier results. Both intention-to-treat and per-protocol analyses were applied. Interventions:A web-based platform that integrated education on carrier results with personal test results was designed to directly parallel disclosure education by a genetic counselor. The sessions took a mean (SD) time of 21 (10.6), and 27 (9.3) minutes, respectively. Main Outcomes and Measures:The primary outcomes and noninferiority margins (δNI) were knowledge (0 to 8, δNI = -1), test-specific distress (0 to 30, δNI = +1), and decisional conflict (15 to 75, δNI = +6). Results:After 462 participants (80.9%) provided consent and were randomized, all but 3 participants (n = 459) completed surveys following education and counseling; 398 (86.1%) completed 1-month surveys and 392 (84.8%) completed 6-month surveys. Participants were predominantly well-educated, non-Hispanic white, married parents; mean (SD) age was 63 (63.1) years and 246 (53.6%) were men. The web platform was noninferior to the genetic counselor on outcomes assessed at 1 and 6 months: knowledge (mean group difference, -0.18; lower limit of 97.5% CI, -0.63; δNI = -1), test-specific distress (median group difference, 0; upper limit of 97.5% CI, 0; δNI = +1), and decisional conflict about choosing to learn results (mean group difference, 1.18; upper limit of 97.5% CI, 2.66; δNI = +6). There were no significant differences between the genetic counselors and web-based platform detected between modes of education delivery in disclosure rates to spouses (151 vs 159; relative risk [RR], 1.04; 95% CI, 0.64-1.69; P > .99), children (103 vs 117; RR, 1.07; 95% CI, 0.85-1.36; P = .59), or siblings (91 vs 78; RR, 1.17; 95% CI, 0.94-1.46; P = .18). Conclusions and Relevance:This trial demonstrates noninferiority of web-based return of carrier results among postreproductive, mostly healthy adults. Replication studies among younger and more diverse populations are needed to establish generalizability. Yet return of results via a web-based platform may be sufficient for subsets of test results, reserving genetic counselors for return of results with a greater health threat. Trial Registration:clinicaltrials.gov Identifier: NCT00410241.
journal_name
JAMA Intern Medjournal_title
JAMA internal medicineauthors
Biesecker BB,Lewis KL,Umstead KL,Johnston JJ,Turbitt E,Fishler KP,Patton JH,Miller IM,Heidlebaugh AR,Biesecker LGdoi
10.1001/jamainternmed.2017.8049subject
Has Abstractpub_date
2018-03-01 00:00:00pages
338-346issue
3eissn
2168-6106issn
2168-6114pii
2669907journal_volume
178pub_type
杂志文章,随机对照试验abstract:IMPORTANCE:Antihypertensive agents are the most commonly prescribed class of medications in the United States. Evidence regarding the relationship between different types of antihypertensives and breast cancer risk is sparse and inconsistent, and prior studies have lacked the capacity to assess impacts of long-term use...
journal_title:JAMA internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1001/jamainternmed.2013.9071
更新日期:2013-09-23 00:00:00
abstract:Importance:Postmarket evidence generation for medical devices is important yet limited for prosthetic aortic valve devices in the United Kingdom. Objective:To identify prosthetic aortic valve models that display unexpected patterns of mortality or reintervention using routinely collected national registry data and rec...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2016.6936
更新日期:2017-01-01 00:00:00
abstract:IMPORTANCE:Fostering accountability in the Medicare Accountable Care Organization (ACO) programs may be challenging because traditional Medicare beneficiaries have unrestricted choice of health care providers, are attributed to ACOs based on utilization, and often receive fragmented care. OBJECTIVE:To measure 3 relate...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2014.1073
更新日期:2014-06-01 00:00:00
abstract:Importance:Widespread burnout among physicians has been recognized for more than 2 decades. Extensive evidence indicates that physician burnout has important personal and professional consequences. Observations:A lack of awareness regarding the economic costs of physician burnout and uncertainty regarding what organiz...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2017.4340
更新日期:2017-12-01 00:00:00
abstract:Importance:Chlorthalidone is currently recommended as the preferred thiazide diuretic to treat hypertension, but no trials have directly compared risks and benefits. Objective:To compare the effectiveness and safety of chlorthalidone and hydrochlorothiazide as first-line therapies for hypertension in real-world practi...
journal_title:JAMA internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1001/jamainternmed.2019.7454
更新日期:2020-04-01 00:00:00
abstract:IMPORTANCE:Studies have shown that bisphosphonates may have antitumor and antimetastatic properties. Recently, observational studies have suggested a possible protective effect of bisphosphonates on breast cancer, but the effect of bisphosphonate use on risk of breast cancer has not been tested in randomized trials. O...
journal_title:JAMA internal medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1001/jamainternmed.2014.3634
更新日期:2014-10-01 00:00:00
abstract:IMPORTANCE:Chronic obstructive pulmonary disease (COPD) is a common and deadly disease. Long-acting inhaled β-agonists and anticholinergics, first-line medications for COPD, have been associated with increased risk of cardiovascular outcomes. When choosing between the medications, patients and physicians would benefit ...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2013.1016
更新日期:2013-07-08 00:00:00
abstract:IMPORTANCE:National efforts to measure hospital performance in treating cardiac arrest have focused on case survival, with the hope of improving survival after cardiac arrest. However, it is plausible that hospitals with high case-survival rates do a poor job of preventing cardiac arrests in the first place. OBJECTIVE...
journal_title:JAMA internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1001/jamainternmed.2013.1026
更新日期:2013-07-08 00:00:00
abstract:Importance:First-line behavioral and drug therapies for overactive bladder (OAB) symptoms in men are effective but not usually curative. Objective:To determine whether combining behavioral and drug therapies improves outcomes compared with each therapy alone for OAB in men and to compare 3 sequences for implementing c...
journal_title:JAMA internal medicine
pub_type: 杂志文章,随机对照试验
doi:10.1001/jamainternmed.2019.6398
更新日期:2020-03-01 00:00:00
abstract:IMPORTANCE:False-positive mammograms, a common occurrence in breast cancer screening programs, represent a potential screening harm that is currently being evaluated by the US Preventive Services Task Force. OBJECTIVE:To measure the effect of false-positive mammograms on quality of life by measuring personal anxiety, ...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2014.981
更新日期:2014-06-01 00:00:00
abstract:IMPORTANCE:Pulmonary nodules are common, and more will be found with implementation of lung cancer screening. How potentially malignant pulmonary nodules are evaluated may affect patient outcomes, health care costs, and effectiveness of lung cancer screening programs. Guidelines for evaluating pulmonary nodules for can...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2014.561
更新日期:2014-06-01 00:00:00
abstract:IMPORTANCE:Healthcare overuse, the delivery of low-value services, is increasingly recognized as a critical problem. However, little is known about the comparative effectiveness of alternate formats for presenting benefits and harms information to patients as a strategy to reduce overuse. OBJECTIVE:To examine the effe...
journal_title:JAMA internal medicine
pub_type: 杂志文章,随机对照试验
doi:10.1001/jamainternmed.2015.7339
更新日期:2016-01-01 00:00:00
abstract:IMPORTANCE:Better continuity of care is expected to improve patient outcomes and reduce health care costs, but patterns of use, costs, and clinical complications associated with the current patterns of care continuity have not been quantified. OBJECTIVE:To measure the association between care continuity, costs, and ra...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2014.245
更新日期:2014-05-01 00:00:00
abstract:IMPORTANCE:Biofeedback with device-guided lowering of breathing frequency could be an alternate nonpharmacologic treatment option for hypertension. Evidence from trials with high methodologic quality is lacking. OBJECTIVE:To evaluate the effects of device-guided lowering of breathing frequency on blood pressure in pat...
journal_title:JAMA internal medicine
pub_type: 杂志文章,随机对照试验
doi:10.1001/jamainternmed.2013.6883
更新日期:2013-07-22 00:00:00
abstract::A global human immunodeficiency virus (HIV) epidemic persists despite data to support multiple effective and safe tools that prevent HIV transmission and acquisition. Human immunodeficiency virus preexposure prophylaxis (PrEP) for HIV-uninfected at-risk populations using tenofovir disoproxil fumarate emtricitabine is ...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2019.5456
更新日期:2019-11-18 00:00:00
abstract:IMPORTANCE:Adherence to long-term therapies in chronic disease is poor. Traditional interventions to improve adherence are complex and not widely effective. Mobile telephone text messaging may be a scalable means to support medication adherence. OBJECTIVES:To conduct a meta-analysis of randomized clinical trials to as...
journal_title:JAMA internal medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1001/jamainternmed.2015.7667
更新日期:2016-03-01 00:00:00
abstract:IMPORTANCE:Policies and practices that promote advance care planning and advance directive completion implicitly assume that patients' choices for end-of-life (EOL) care are stable over time, even with changes in health status. OBJECTIVE:To systematically evaluate the evidence on the stability of EOL preferences over ...
journal_title:JAMA internal medicine
pub_type: 杂志文章,评审
doi:10.1001/jamainternmed.2014.1183
更新日期:2014-07-01 00:00:00
abstract:Importance:Accumulating epidemiologic evidence has suggested favorable associations between plant-based dietary patterns and risk of type 2 diabetes, although there is a lack of a quantitative summary of evidence substantiating this important association. Objective:To quantitatively synthesize available prospective ob...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2019.2195
更新日期:2019-07-22 00:00:00
abstract:Importance:Chronic kidney disease (CKD) is common in adults with heart failure and is associated with an increased risk of sudden cardiac death. Randomized trials of participants without CKD have demonstrated that implantable cardioverter defibrillators (ICDs) decrease the risk of arrhythmic death in selected patients ...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2017.8462
更新日期:2018-03-01 00:00:00
abstract:Importance:As the rate of publication of new and sometimes conflicting medical research increases, clinicians rely heavily on clinical practice guidelines (CPGs) to inform practice. However, CPGs are of widely variable quality, and there are no existing objective measures to rate the quality of CPGs. Objective:To syst...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2018.7529
更新日期:2019-04-01 00:00:00
abstract:Importance:The safety of discharging adult patients recovering from critical illness directly home from the intensive care unit (ICU) is unknown. Objective:To compare the health care utilization and clinical outcomes for ICU patients discharged directly home from the ICU with those of patients discharged home via the ...
journal_title:JAMA internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1001/jamainternmed.2018.3675
更新日期:2018-10-01 00:00:00
abstract:Importance:End-of-life care is costly, and decedents often experience overtreatment or low-quality care. Noninvasive ventilation (NIV) may be a palliative approach to avoid invasive mechanical ventilation (IMV) among select patients who are hospitalized at the end of life. Objective:To examine the trends in NIV and IM...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2020.5640
更新日期:2021-01-01 00:00:00
abstract:Importance:Medicare adopted transitional care management (TCM) payment codes in 2013 to encourage clinicians to furnish TCM services after beneficiaries were discharged to the community from medical facilities. To bill for the 30-day service, a care team member must communicate with the beneficiary or the caregiver wit...
journal_title:JAMA internal medicine
pub_type: 社论
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更新日期:2018-09-01 00:00:00
abstract:IMPORTANCE:Little is known about the relationship between physicians' diagnostic accuracy and their confidence in that accuracy. OBJECTIVE:To evaluate how physicians' diagnostic calibration, defined as the relationship between diagnostic accuracy and confidence in that accuracy, changes with evolution of the diagnosti...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2013.10081
更新日期:2013-11-25 00:00:00
abstract:Importance:The American College of Radiology (ACR) has recognized the importance of minimizing radiation doses used for lung cancer screening (LCS) computed tomography (CT). However, without standard protocols, doses could still be unnecessarily high, reducing screening margin of benefit. Objective:To characterize LCS...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2019.3893
更新日期:2019-09-23 00:00:00
abstract:IMPORTANCE:Self-monitoring of blood glucose is a costly component of care for diabetes mellitus, with unclear benefits for patients not taking insulin. Veterans with dual Department of Veterans Affairs (VA) and Medicare benefits have access to test strips through both systems, raising the potential for overuse. OBJECT...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2014.5405
更新日期:2015-01-01 00:00:00
abstract:IMPORTANCE:For antidepressants, the translation of evidence of comparative effectiveness into practice is suboptimal. This deficit directly affects outcomes and quality of care for patients with depression. To overcome this problem, we developed the Depression Medication Choice (DMC) encounter decision aid, designed to...
journal_title:JAMA internal medicine
pub_type: 杂志文章,随机对照试验
doi:10.1001/jamainternmed.2015.5214
更新日期:2015-11-01 00:00:00
abstract:Importance:As cervical cancer screening transitions from Papanicolaou cytologic screening to primary human papillomavirus (HPV) testing worldwide, effective triage tests are needed to decide who among the HPV-positive women should receive further diagnostic evaluation to avoid unnecessary colposcopies and biopsies. Ob...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2019.0306
更新日期:2019-07-01 00:00:00
abstract:Importance:Home health care workers care for community-dwelling adults and play an important role in supporting patients with confirmed and suspected coronavirus disease 2019 (COVID-19) who remain at home. These workers are mostly middle-aged women and racial/ethnic minorities who typically earn low wages. Despite bein...
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pub_type: 杂志文章
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更新日期:2020-08-04 00:00:00
abstract:Importance:The electronic cigarette (EC) has become popular among smokers who wish to reduce their tobacco use levels or quit smoking, but its effectiveness as a cessation aid is uncertain. Objective:To examine the association of regular EC use with the number of cigarettes smoked per day, smoking cessation among curr...
journal_title:JAMA internal medicine
pub_type: 杂志文章
doi:10.1001/jamainternmed.2019.1483
更新日期:2019-07-15 00:00:00