Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients.
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ABSTRACT:
SUBMITTER: Christensen KD
PROVIDER: S-EPMC8384838 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:PURPOSE:Great uncertainty exists about the costs associated with whole-genome sequencing (WGS). METHODS:One hundred cardiology patients with cardiomyopathy diagnoses and 100 ostensibly healthy primary care patients were randomized to receive a family-history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months. RESULTS:The incremental cost per patient of WGS testing was $5,098 in cardiology settings and $5,073 in primary care settings compared with family history alone. Mean 6-month downstream costs did not differ statistically between the control and WGS arms in either setting (cardiology: difference?=?-$1,560, 95% confidence interval -$7,558 to $3,866, p?=?0.36; primary care: difference?=?$681, 95% confidence interval -$884 to $2,171, p?=?0.70). Scenario analyses showed the cost reduction of omitting or limiting the types of secondary findings was less than $69 and $182 per patient in cardiology and primary care, respectively. CONCLUSION:Short-term costs of WGS were driven by the costs of sequencing and interpretation rather than downstream health care. Disclosing additional types of secondary findings has a limited cost impact following disclosure.
| S-EPMC6151171 | biostudies-literature
Project description:BackgroundHeart failure is characterized by physical and emotional symptoms and decreased quality of life (QoL). Palliative care can reduce burdens of serious illness but often is limited to inpatient or academic settings.ObjectivesTo develop and test the Primary Education for Nurses in Palliative care-HF (PENPal-HF) intervention, training outpatient cardiology nurses to address symptom burden, patient priorities for care and QoL, and advance care planning as part of quarterly HF visits.MethodsWe conducted a pilot randomized clinical trial for adults with NYHA Stage III or IV HF and ≥ 2 hospitalizations in the past 12 months, recruited from a community-based cardiology clinic. Participants were randomized 2:1, PENPal-HF plus usual care versus usual care alone. Primary outcomes were feasibility and acceptability.ResultsWe randomized 30 adults with Stage III HF - 20 to PENPal-HF and 10 to usual care. Most in the intervention group (71%) and in the control group (62%) completed the study through the final outcome assessment in week 56; 5 participants died. Of 20 participants in the intervention, 14 (70%) remained in the study through the end of intervention visits; 11 (55%) completed all visits. Most intervention participants (93.75%) agreed or strongly agreed that they were satisfied with their care, and 87.5% agreed or strongly agreed that all people with HF should receive the intervention. Most intervention group participants (93.75%) reported a perceived improvement in physical symptoms, mood, and/or QoL.ConclusionsThis pilot study suggests that nurse-led primary palliative care in outpatient cardiology settings is promising. Research is warranted to determine efficacy and effectiveness.
| S-EPMC9941979 | biostudies-literature
Project description:BackgroundWhole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value.ObjectiveTo describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care.DesignPilot randomized trial. (ClinicalTrials.gov: NCT01736566).SettingAcademic primary care practices.Participants9 primary care physicians (PCPs) and 100 generally healthy patients recruited at ages 40 to 65 years.InterventionPatients were randomly assigned to receive a family history report alone (FH group) or in combination with an interpreted WGS report (FH + WGS group), which included monogenic disease risk (MDR) results (associated with Mendelian disorders), carrier variants, pharmacogenomic associations, and polygenic risk estimates for cardiometabolic traits. Each patient met with his or her PCP to discuss the report.MeasurementsClinical outcomes and health care use through 6 months were obtained from medical records and audio-recorded discussions between PCPs and patients. Patients' health behavior changes were surveyed 6 months after receiving results. A panel of clinician-geneticists rated the appropriateness of how PCPs managed MDR results.ResultsMean age was 55 years; 58% of patients were female. Eleven FH + WGS patients (22% [95% CI, 12% to 36%]) had new MDR results. Only 2 (4% [CI, 0.01% to 15%]) had evidence of the phenotypes predicted by an MDR result (fundus albipunctatus due to RDH5 and variegate porphyria due to PPOX). Primary care physicians recommended new clinical actions for 16% (CI, 8% to 30%) of FH patients and 34% (CI, 22% to 49%) of FH + WGS patients. Thirty percent (CI, 17% to 45%) and 41% (CI, 27% to 56%) of FH and FH + WGS patients, respectively, reported making a health behavior change after 6 months. Geneticists rated PCP management of 8 MDR results (73% [CI, 39% to 99%]) as appropriate and 2 results (18% [CI, 3% to 52%]) as inappropriate.LimitationLimited sample size and ancestral and socioeconomic diversity.ConclusionAdding WGS to primary care reveals new molecular findings of uncertain clinical utility. Nongeneticist providers may be able to manage WGS results appropriately, but WGS may prompt additional clinical actions of unclear value.Primary funding sourceNational Institutes of Health.
| S-EPMC5856654 | biostudies-literature
Project description:IntroductionGreater understanding of the impact of low intensity psychosocial interventions delivered by behavioral health clinicians (BHCs) working in an integrated care program (ICP) may promote better depression care.MethodIn a randomized controlled trial, 153 participants identified as depressed by their primary care provider (PCP) were assigned to ICP or usual care (UC, management by PCP, including specialty referral). In the ICP condition, BHCs worked collaboratively with PCPs and liaison psychiatrists.ResultsICP participants with lower and higher severity symptoms reported significantly greater use of coping strategies than UC participants at the 1-month follow up (lower: p = .002; higher: p = .016). ICP participants with lower severity continued to report significantly greater use of coping strategies than UC participants at the 4-month (p = .024), and 7-month (p = .012) follow ups. ICP participants were more likely to be following relapse preventions plans at the 4-month follow up (lower: 89.5% vs. 50%, p = .0.000; higher 74.1% vs. 33%, p = .0001). ICP participants also reported use of antidepressant medications on more days than UC participants at the 4-month follow up (lower: 21.27 vs. 14.49 days, p = .049; higher: 24.61 vs. 17.08 days, p = .035). Patient retention in the ICP was high, and ICP participants were significantly more satisfied with depression care than UC participants at follow-up assessments.DiscussionDelivery of low intensity psychosocial interventions by BHCs was associated with improvements to behavior charge targets. (PsycInfo Database Record (c) 2020 APA, all rights reserved).
| S-EPMC7097878 | biostudies-literature
Project description:Effective implementation strategies are needed to improve the adoption of evidence-based psychotherapy in primary care settings. This study provides pilot data on the test of an implementation strategy conducted as part of a multisite randomized controlled trial examining a brief cognitive-behavioral therapy versus usual care for medically ill patients in primary care, using a hybrid (type II) effectiveness/implementation design. The implementation strategy was multifaceted and included (1) modular-based online clinician training, (2) treatment fidelity auditing with expert feedback, and (3) internal and external facilitation to provide ongoing consultation and support of practice. Outcomes included descriptive and qualitative data on the feasibility and acceptability of the implementation strategy, as well as initial indicators of clinician adoption and treatment fidelity. Results suggest that a comprehensive implementation strategy to improve clinician adoption of a brief cognitive-behavioral therapy in primary care is feasible and effective for reaching high levels of adoption and fidelity.
| S-EPMC4041920 | biostudies-literature
Project description:Public availability of genetic information is increasing; thus, efforts to improve diversity in basic and translational research in genomics is a top priority. Given the increasing U.S. incidence and mortality of melanoma, and the prevalence of common melanocortin-1 receptor (MC1R) gene melanoma risk variants in the general population, we examined genomic testing of MC1R for skin cancer risk in a randomized controlled trial in Albuquerque, New Mexico primary care. Participants were 48% Hispanic and were randomized 5:1 to a MC1R test invitation or usual care. We assessed 3 month sun protection, skin cancer screening, and skin cancer worry outcomes associated with testing, and key effect moderators (e.g., cancer risk perceptions, and skin cancer risk factors). Our findings indicate that the primary outcomes were unchanged by the MC1R test offer, test acceptance, and level of risk feedback. Moderator analyses showed that those with lower risk perception, and those with skin that readily tans, significantly increased their sun protection in response to higher than average risk feedback. Risk feedback did not prompt cancer worry, and average risk feedback did not erode existing sun protection. This study paves the way for the development of tailored strategies to address low skin cancer risk awareness in this understudied context of public health genomics.
| S-EPMC8394482 | biostudies-literature
Project description:BackgroundPatients in acute care wards who deteriorate and are emergently transferred to intensive care units (ICUs) have poor outcomes. Early identification of patients who are decompensating might allow for earlier clinical intervention and reduced morbidity and mortality. Advances in bedside continuous predictive analytics monitoring (ie, artificial intelligence [AI]-based risk prediction) have made complex data easily available to health care providers and have provided early warning of potentially catastrophic clinical events. We present a dynamic, visual, predictive analytics monitoring tool that integrates real-time bedside telemetric physiologic data into robust clinical models to estimate and communicate risk of imminent events. This tool, Continuous Monitoring of Event Trajectories (CoMET), has been shown in retrospective observational studies to predict clinical decompensation on the acute care ward. There is a need to more definitively study this advanced predictive analytics or AI monitoring system in a prospective, randomized controlled, clinical trial.ObjectiveThe goal of this trial is to determine the impact of an AI-based visual risk analytic, CoMET, on improving patient outcomes related to clinical deterioration, response time to proactive clinical action, and costs to the health care system.MethodsWe propose a cluster randomized controlled trial to test the impact of using the CoMET display in an acute care cardiology and cardiothoracic surgery hospital floor. The number of admissions to a room undergoing cluster randomization was estimated to be 10,424 over the 20-month study period. Cluster randomization based on bed number will occur every 2 months. The intervention cluster will have the CoMET score displayed (along with standard of care), while the usual care group will receive standard of care only.ResultsThe primary outcome will be hours free from events of clinical deterioration. Hours of acute clinical events are defined as time when one or more of the following occur: emergent ICU transfer, emergent surgery prior to ICU transfer, cardiac arrest prior to ICU transfer, emergent intubation, or death. The clinical trial began randomization in January 2021.ConclusionsVery few AI-based health analytics have been translated from algorithm to real-world use. This study will use robust, prospective, randomized controlled, clinical trial methodology to assess the effectiveness of an advanced AI predictive analytics monitoring system in incorporating real-time telemetric data for identifying clinical deterioration on acute care wards. This analysis will strengthen the ability of health care organizations to evolve as learning health systems, in which bioinformatics data are applied to improve patient outcomes by incorporating AI into knowledge tools that are successfully integrated into clinical practice by health care providers.Trial registrationClinicalTrials.gov NCT04359641; https://clinicaltrials.gov/ct2/show/NCT04359641.International registered report identifier (irrid)DERR1-10.2196/29631.
| S-EPMC8285742 | biostudies-literature
Project description:ImportanceAnnual preventive health visits provide an opportunity to screen youths for unhealthy substance use and intervene before serious harm results.ObjectivesTo assess the feasibility and acceptability and estimate the efficacy of a primary care computer-facilitated screening and practitioner-delivered brief intervention (CSBI) system compared with usual care (UC) for youth substance use and associated risk of riding with an impaired driver.Design, setting, and participantsAn intent-to-treat pilot randomized clinical trial compared CSBI with UC among 965 youths aged 12 to 18 years at 5 pediatric primary care offices and 54 practitioners. Patients were randomized to CSBI (n = 628) or usual care (n = 243) groups within practitioner with 12 months of follow-up. Data were collected from February 1, 2015, to December 31, 2017. Data analysis was performed January 1, 2018, to March 30, 2019.InterventionsPatients self-administered a computer-facilitated substance use screening questionnaire before their annual preventive health visits. Immediately after completing the screening, they received their score and level of risk and viewed 10 pages of scientific information and true-life vignettes illustrating health risks associated with substance use. Trained practitioners received the screening results, patients' risk levels, talking points designed to prompt brief counseling, and recommended follow-up plans.Main outcomes and measuresFeasibility and acceptability were assessed using adolescents' postvisit ratings. Days of alcohol use, cannabis use, and heavy episodic drinking were assessed at baseline and 3-, 6-, 9-, and 12-month follow-ups using Timeline Followback, and riding in the past 3 months with a driver who was impaired by use of alcohol or other drugs was assessed using 2 self-report items. The primary outcome was the intervention effect among at-risk youths who reported using alcohol or other drugs in the past 12 months or riding with an impaired driver in the past 3 months at baseline. The secondary outcome was the prevention effect among those with no prior use or risk.ResultsAmong 871 youths screened, 869 completed the baseline assessment; 211 of the 869 reported alcohol or cannabis use in the past 12 months at baseline (mean [SD] age, 16.4 [1.3] years; 114 [54.1%] female; 105 [49.8%] non-Hispanic white). Of the 211 youths, 148 (70.1%) were assigned to the CSBI group and 63 (29.9%) were assigned to the UC group. Among youths in the CSBI group, 105 (70.9%) reported receiving counseling about alcohol, 122 (82.4%) reported receiving counseling about cannabis, and 129 (87.2%) reported receiving counseling about not riding with an impaired driver. Adjusted hazard ratios for time to first postvisit use of alcohol or other drugs for CSBI vs UC were as follows: alcohol use, 0.69 (95% CI, 0.47-1.02); heavy episodic drinking, 0.66 (95% CI, 0.40-1.10); and cannabis use, 0.62 (95% CI, 0.41-0.94). At 12-month follow-ups among 99 youths who reported having ridden in the past 3 months at baseline with an impaired driver (64 in the CSBI group; 35 in the UC group), adjusted relative risk ratio of riding in the past 3 months with an impaired driver for CSBI vs UC groups was 0.58 (95% CI, 0.37-0.91). No intervention effect was observed among youths who reported no prior use of alcohol or other drugs (n = 658) or not having ridden with an impaired driver (n = 769) at baseline.Conclusions and relevanceThe CSBI system is a feasible and acceptable option for screening youths in primary care practice for use of alcohol and other drugs and for risk of riding with an impaired driver, and the estimated efficacy in this sample warrants further testing in larger samples.Trial registrationClinicalTrials.gov identifier: NCT00227877.
| S-EPMC6593643 | biostudies-literature
Project description:To determine the impact of cognitive behavioral therapy on outcomes in primary care, office-based buprenorphine/naloxone treatment of opioid dependence.We conducted a 24-week randomized clinical trial in 141 opioid-dependent patients in a primary care clinic. Patients were randomized to physician management or physician management plus cognitive behavioral therapy. Physician management was brief, manual guided, and medically focused; cognitive behavioral therapy was manual guided and provided for the first 12 weeks of treatment. The primary outcome measures were self-reported frequency of illicit opioid use and the maximum number of consecutive weeks of abstinence from illicit opioids, as documented by urine toxicology and self-report.The 2 treatments had similar effectiveness with respect to reduction in the mean self-reported frequency of opioid use, from 5.3 days per week (95% confidence interval, 5.1-5.5) at baseline to 0.4 (95% confidence interval, 0.1-0.6) for the second half of maintenance (P<.001 for the comparisons of induction and maintenance with baseline), with no differences between the 2 groups (P=.96) or between the treatments over time (P=.44). For the maximum consecutive weeks of opioid abstinence there was a significant main effect of time (P<.001), but the interaction (P=.11) and main effect of group (P=.84) were not significant. No differences were observed on the basis of treatment assignment with respect to cocaine use or study completion.Among patients receiving buprenorphine/naloxone in primary care for opioid dependence, the effectiveness of physician management did not differ significantly from that of physician management plus cognitive behavioral therapy.
| S-EPMC3621718 | biostudies-literature
Project description:There is increasing evidence supporting the effectiveness of psychological interventions in low- and middle-income countries. However, primary care providers (PCPs) may prefer treating patients with medication. A secondary exploratory analysis of a pilot cluster randomized controlled trial was conducted to evaluate psychological vs. pharmacological treatment preferences among PCPs. Thirty-four health facilities, including 205 PCPs, participated in the study, with PCPs in 17 facilities assigned to a standard version of the mental health Gap Action Programme (mhGAP) training delivered by mental health specialists. PCPs in the other 17 facilities received mhGAP instruction delivered by specialists and people with lived experience of mental illness (PWLE), using a training strategy entitled Reducing Stigma among HealthcAre ProvidErs (RESHAPE). Pre- and post- intervention attitudes were measured through quantitative and qualitative tools. Qualitative interviews with 49 participants revealed that PCPs in both arms endorsed counseling's benefits and collaboration within the health system to provide counseling. In the RESHAPE arm, PCPs were more likely to increase endorsement of statements such as "depression improves without medication" (F = 9.83, p < 0.001), "not all people with depression must be treated with antidepressants" (χ2 = 17.62, p < 0.001), and "providing counseling to people who have alcohol abuse problems is effective" (χ2 = 26.20, p < 0.001). These mixed-method secondary findings from a pilot trial suggest that in-person participation of PWLE in training PCPs may not only reduce stigma but also increase PCPs' support of psychological interventions. This requires further investigation in a full-scale trial.
| S-EPMC8871897 | biostudies-literature