"Matching" consent to purpose: The example of the Matchmaker Exchange.
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ABSTRACT:
SUBMITTER: Dyke SOM
PROVIDER: S-EPMC5669800 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Publications
"Matching" consent to purpose: The example of the Matchmaker Exchange.
Dyke Stephanie O M SOM Knoppers Bartha M BM Hamosh Ada A Firth Helen V HV Hurles Matthew M Brudno Michael M Boycott Kym M KM Philippakis Anthony A AA Rehm Heidi L HL
Human mutation 20170712 10
The Matchmaker Exchange (MME) connects rare disease clinicians and researchers to facilitate the sharing of data from undiagnosed patients for the purpose of novel gene discovery. Such sharing raises the odds that two or more similar patients with candidate genes in common may be found, thereby allowing their condition to be more readily studied and understood. Consent considerations for data sharing in MME included both the ethical and legal differences between clinical and research settings an ...[more]
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Project description:Despite the increasing prevalence of clinical sequencing, the difficulty of identifying additional affected families is a key obstacle to solving many rare diseases. There may only be a handful of similar patients worldwide, and their data may be stored in diverse clinical and research databases. Computational methods are necessary to enable finding similar patients across the growing number of patient repositories and registries. We present the Matchmaker Exchange Application Programming Interface (MME API), a protocol and data format for exchanging phenotype and genotype profiles to enable matchmaking among patient databases, facilitate the identification of additional cohorts, and increase the rate with which rare diseases can be researched and diagnosed. We designed the API to be straightforward and flexible in order to simplify its adoption on a large number of data types and workflows. We also provide a public test data set, curated from the literature, to facilitate implementation of the API and development of new matching algorithms. The initial version of the API has been successfully implemented by three members of the Matchmaker Exchange and was immediately able to reproduce previously identified matches and generate several new leads currently being validated. The API is available at https://github.com/ga4gh/mme-apis.
| S-EPMC4775166 | biostudies-literature
Project description:The amount of data available from genomic medicine has revolutionized the approach to identify the determinants underlying many rare diseases. The task of confirming a genotype-phenotype causality for a patient affected with a rare genetic disease is often challenging. In this context, the establishment of the Matchmaker Exchange (MME) network has assumed a pivotal role in bridging heterogeneous patient information stored on different medical and research servers. MME has made it possible to solve rare disease cases by "matching" the genotypic and phenotypic characteristics of a patient of interest with patient data available at other clinical facilities participating in the network. Here, we present PatientMatcher (https://github.com/Clinical-Genomics/patientMatcher), an open-source Python and MongoDB-based software solution developed by Clinical Genomics facility at the Science for Life Laboratory in Stockholm. PatientMatcher is designed as a standalone MME server, but can easily communicate via REST API with external applications managing genetic analyses and patient data. The MME node is being implemented in clinical routine in collaboration with the Genomic Medicine Center Karolinska at the Karolinska University Hospital. PatientMatcher is written to implement the MME API and provides several customizable settings, including a custom-fit similarity score algorithm and adjustable matching results notifications.
| S-EPMC9311682 | biostudies-literature
Project description:There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the needle in a haystack" to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many small siloed datasets within individual research or clinical laboratory databases and/or disease-specific organizations, hoping for serendipitous occasions when two distant investigators happen to learn they have a rare phenotype in common and can "match" these cases to build evidence for causality. However, serendipity has never proven to be a reliable or scalable approach in science. As such, the Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API). The core building blocks of the MME have been defined and assembled. Three MME services have now been connected through the API and are available for community use. Additional databases that support internal matching are anticipated to join the MME network as it continues to grow.
| S-EPMC4610002 | biostudies-literature
Project description:BackgroundAlthough informed consent is an integral part of clinical practice, its current doctrine remains mostly a matter of law and mainstream ethics rather than empirical research. There are scarce empirical data on patients' perceived purpose of informed consent, which may include administrative routine/courtesy gesture, simple honest permission, informed permission, patient-clinician shared decision-making, and enabling patient's self decision-making. Different purposes require different processes.MethodsWe surveyed 488 adults who were planning to undergo or had recently undergone written informed consent-requiring procedures. Perceptions of informed consent purpose (from norm and current practice perspectives) were explored by asking respondents to rank (1 = most reflective) 10 randomly-presented statements: "meaningless routine", "courtesy gesture" "litigation protection", "take away compensation rights", "inform patient', "make sure patient understand", "document patient's decision", "discover patient's preferences", "have shared decision", and "help patient decide".ResultsRespondents' mean (SD) age was 38.3 (12.5); 50.4% were males, 56.8% had ≥ college education, and 37.3% had undergone a procedure. From the norm perspective, the least reflective statement was "meaningless routine\" (ranked 1-3 by 2.6% of respondents) and the most reflective statements were "help patient decide", "make sure patient understand", and "inform patient" (ranked 1-3 by 65%, 60%, and 48% of respondents with median [25%,75%] ranking scores of 2 [1,5], 3 [2,4], and 4 [2,5], respectively). Compared to their counterparts, males and pre-procedure respondents ranked "help patient decide" better, whereas females and post-procedure respondents ranked "inform patient" better (p = 0.007 to p < 0.001). Age was associated with better ranking of "help patient decide" and "make sure patient understand" statements (p < 0.001 and p = 0.002, respectively), which were ranked 1-3 by only 46% and 42% of respondents from the current practice perspective (median ranking score 4 [2,6], p < 0.001 vs. norm perspective for both).Conclusions1) the informed consent process is important to patients, however, patients vary in their views of its purpose with the dominant view being enabling patients' self decision-making, 2) males, pre-procedure, and older patients more favor a self decision-making purpose, whereas females and post-procedure patients more favor an information disclosure purpose, and 3) more self decision-making and more effective information disclosure than is currently practiced are desired. An informed consent process consistent with Mill's individual autonomy model may be suitable for most patients.
| S-EPMC3897892 | biostudies-literature
Project description:ImportancePotential research participants may assume that randomized trials comparing new interventions with older interventions always hypothesize greater efficacy for the new intervention, as in superiority trials. However, antibiotic trials frequently use "noninferiority" hypotheses allowing a degree of inferior efficacy deemed "clinically acceptable" compared with an older effective drug, in exchange for nonefficacy benefits (eg, decreased adverse effects). Considering these different benefit-harm trade-offs, proper informed consent necessitates supplying different information on the purposes of superiority and noninferiority trials.ObjectiveTo determine the degree to which the study purpose is explained to potential participants in randomized clinical trials of antibiotics and the degree to which study protocols justify their selection of noninferiority hypotheses and amount of "clinically acceptable" inferiority.Design and settingCross-sectional analysis of study protocols, statistical analysis plans (SAPs), and informed consent forms (ICFs) from clinical study reports submitted to the European Medicines Agency. The ICFs were read by both methodologists and patient investigators.Main outcomes and measuresProtocols and SAPs were used as the reference standard to determine prespecified primary hypothesis and record rationale for selection of noninferiority hypotheses and noninferiority margins. This information was cross-referenced against ICFs to determine whether ICFs explained the study purpose.ResultsWe obtained trial documents from 78 randomized trials with prespecified efficacy hypotheses (6 superiority, 72 noninferiority) for 17 antibiotics conducted between 1991 and 2011 that enrolled 39 407 patients. Fifty were included in the ICF analysis. All ICFs contained sections describing study purpose; however, none consistently conveyed study hypothesis to both methodologists and patient investigators. Methodologists found that 1 of 50 conveyed a study purpose. Patient investigators found that 11 of 50 conveyed a study purpose, 7 accurately and 4 inaccurately compared with the reference standard. Seventy-one of 72 noninferiority trial protocols or SAPs provided no rationale for selection of noninferiority hypothesis. None provided a clinical rationale for the chosen amount of decreased efficacy.Conclusions and relevancePatients were not accurately informed of study purpose, which raises questions regarding the ethics of informed consent in antibiotic trials. Noninferiority and superiority trials entail different benefit-harm trade-offs that must be conveyed for ethical informed consent.
| S-EPMC5710221 | biostudies-literature
Project description:BackgroundRandomized controlled trials (RCTs) are uncommon in precision oncology. We provide an introduction and illustrative example of matching methods for evaluating precision oncology in the absence of RCTs. We focus on British Columbia's Personalized OncoGenomics (POG) program, which applies whole-genome and transcriptome analysis (WGTA) to inform advanced cancer care.MethodsOur cohort comprises 230 POG patients enrolled between 2014 and 2015 and matched POG-naive controls. We generated our matched cohort using 1:1 propensity score matching (PSM) and genetic matching prior to exploring survival differences.ResultsWe find that genetic matching outperformed PSM when balancing covariates. In all cohorts, overall survival did not significantly differ across POG and POG-naive patients (p > 0.05). Stratification by WGTA-informed treatment indicated unmatched survival differences. Patients whose WGTA information led to treatment change were at a reduced hazard of death compared to POG-naive controls in all cohorts, with estimated hazard ratios ranging from 0.33 (95% CI: 0.13, 0.81) to 0.41 (95% CI: 0.17, 0.98).ConclusionThese results signal that clinical effectiveness of precision oncology approaches will depend on rates of genomics-informed treatment change. Our study will guide future evaluations of precision oncology and support reliable effect estimation when RCT data are unavailable.
| S-EPMC7963415 | biostudies-literature
Project description:BackgroundInformed consent (IC) is a healthcare standard emphasizing the meaning of human dignity as clarified in the Universal Declaration of Human Rights. Data about IC practices in Egypt is insufficient. This study aimed to assess the Egyptian patients'/guardians' experiences about IC and their expectations about its practices' purposes in general and according to the type of the healthcare facility.MethodsSelf-administered questionnaire was carried out for 1092 participants who had undergone or were scheduled to a procedure requiring an IC at three studied types for Egyptian health care facilities. Ten statements were ranked twice by the participants to reflect their perception of IC purpose as per what is currently practiced and what they believe should be practiced.ResultsIC implementation varies significantly (p<0.05) across the health care facilities in Egypt. The percentage of its implementation at the non-governmental facilities, governmental facilities, and university hospital was 85.9%, 77.8%, and 63.8 respectively. The first three ranked purposes of the current IC practices were: "Helping patient/guardian decide (64.9%)", "Documenting patient's/guardian's decision (59.3%)", and "Having shared decision (57.3%)". The perceived purposes of IC to be practiced were: "Informing the patient/guardian (68.4%)", "Making sure patient/guardian understand (65.3%)" and "Documenting patients/guardians decisions (65.1%)". "Being a meaningless routine" was reported by the majority to be ranked as a low purpose for IC current and preferred practices.ConclusionThe practice of IC is common within the Egyptian medical community. Participants believe that information disclosure "Making sure patients understand" has to help in IC decision making and its main purpose. However, unfortunately, this is not perceived as a current purpose of IC. There was consensus agreement that documenting the patient's/guardian's decision and informing the patient/guardian are perceived as both important current and preferred purposes for IC practices.
| S-EPMC8202917 | biostudies-literature
Project description:ObjectivesTo (1) assess whether hospitals in states requiring explicit patient consent ("opt-in") for health information exchange (HIE) are more likely to report regulatory barriers to HIE and (2) analyze whether these policies correlate with hospital volume of HIE.Study designCross-sectional analysis of US nonfederal acute care hospitals in 2016.MethodsWe combined legal scholarship surveying HIE-relevant state laws with the American Hospital Association Annual Information Technology Supplement for regulatory barriers and hospital characteristics. Data from CMS reports for hospitals attesting to Meaningful Use stage 2 (MU2; renamed "Promoting Interoperability" in 2018) in 2016 captured hospital HIE volume. We used multivariate logistic regression and linear regression to estimate the association of opt-in state consent policies with reported regulatory barriers and HIE volume, respectively.ResultsHospitals in states with opt-in consent policies were 7.8 percentage points more likely than hospitals in opt-out states to report regulatory barriers to HIE (P = .03). In subgroup analyses, this finding held among hospitals that did not attest to MU2 (7.7 percentage points; P = .02). Among hospitals attesting, we did not find a relationship between opt-in policies and regulatory barriers (8.0 percentage points; P = .13) or evidence of a relationship between opt-in policies and HIE volume (β = 0.56; P = .76).ConclusionsOur findings suggest that opt-in consent laws may carry greater administrative burdens compared with opt-out policies. However, less technologically advanced hospitals may bear more of this burden. Furthermore, opt-in policies may not affect HIE volume for hospitals that have already achieved a degree of technological sophistication. Policy makers should carefully consider the incidence of administrative burdens when crafting laws pertaining to HIE.
| S-EPMC7262872 | biostudies-literature
Project description:BackgroundHealth information exchange (HIE) is an information system that efficiently shares patient information across medical institutions. However, traditional consent methods, represented by opt-in and opt-out, face a trade-off between efficiency and ethical, making it difficult to fundamentally improve consent rates. To address this issue, we focused on default settings and proposed an innovative approach called the "two-step consent model," which leverages the advantages of existing models using utility theory. We evaluated the acceptability of this method.MethodsAn online survey was conducted with 2,000 participants registered with Japan's largest internet survey company. We compared and analyzed the consent rates of the opt-in, opt-out, and two-step consent models.ResultsThe opt-in model had a 29.5% consent rate, maximizing patient autonomy but increasing the burden and reducing efficiency. The opt-out model had a 95.0% consent rate but raised concerns among half of the respondents. The two-step consent model had a 68.5% consent rate, demonstrating its cost-effectiveness compared with traditional models.DiscussionThe two-step consent model, involving implicit and explicit consent when needed, ensures efficient consent acquisition while respecting patient autonomy. It is a cost-effective policy option that can overcome the ethical issues associated with the opt-out model. Introducing methods that leverage both opt-in and opt-out advantages is expected to address HIE stagnation.ConclusionThe two-step consent model is expected to improve consent rates by balancing the efficiency and quality of consent acquisition. To achieve this, patient education is crucial for raising awareness and understanding of HIE and its consent methods.
| S-EPMC11908376 | biostudies-literature
Project description:ObjectivesResearch has demonstrated sense of purpose predicts better health in older adulthood. However, work is limited with respect to understanding how experiencing a health event or illness diagnosis impacts older adults' sense of purpose.MethodThe current study employed a propensity score matching approach to compare older adults who did or did not experience an adverse health event on changes in sense of purpose across 3 waves of the Health and Retirement Study. Sense of purpose was assessed at each wave, and changes were compared between people who did versus did not experience one of 7 diagnoses and health events.ResultsWhen propensity score matching was employed, no differences in trajectories of change for sense of purpose were found with respect to all 7 events. Individual differences in trajectories, however, were evidenced across groups.DiscussionThe current findings suggest that even when health events impact older adults' physical functioning or place limitations on their activity, they may hold little ramifications for their sense of purpose. Future research should consider this potential for resilience, focusing on how adults compensate for losses.
| S-EPMC8436703 | biostudies-literature