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1.
medRxiv ; 2024 Apr 27.
Artículo en Inglés | MEDLINE | ID: mdl-38712148

RESUMEN

Background: The launch of the Chat Generative Pre-trained Transformer (ChatGPT) in November 2022 has attracted public attention and academic interest to large language models (LLMs), facilitating the emergence of many other innovative LLMs. These LLMs have been applied in various fields, including healthcare. Numerous studies have since been conducted regarding how to employ state-of-the-art LLMs in health-related scenarios to assist patients, doctors, and public health administrators. Objective: This review aims to summarize the applications and concerns of applying conversational LLMs in healthcare and provide an agenda for future research on LLMs in healthcare. Methods: We utilized PubMed, ACM, and IEEE digital libraries as primary sources for this review. We followed the guidance of Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRIMSA) to screen and select peer-reviewed research articles that (1) were related to both healthcare applications and conversational LLMs and (2) were published before September 1st, 2023, the date when we started paper collection and screening. We investigated these papers and classified them according to their applications and concerns. Results: Our search initially identified 820 papers according to targeted keywords, out of which 65 papers met our criteria and were included in the review. The most popular conversational LLM was ChatGPT from OpenAI (60), followed by Bard from Google (1), Large Language Model Meta AI (LLaMA) from Meta (1), and other LLMs (5). These papers were classified into four categories in terms of their applications: 1) summarization, 2) medical knowledge inquiry, 3) prediction, and 4) administration, and four categories of concerns: 1) reliability, 2) bias, 3) privacy, and 4) public acceptability. There are 49 (75%) research papers using LLMs for summarization and/or medical knowledge inquiry, and 58 (89%) research papers expressing concerns about reliability and/or bias. We found that conversational LLMs exhibit promising results in summarization and providing medical knowledge to patients with a relatively high accuracy. However, conversational LLMs like ChatGPT are not able to provide reliable answers to complex health-related tasks that require specialized domain expertise. Additionally, no experiments in our reviewed papers have been conducted to thoughtfully examine how conversational LLMs lead to bias or privacy issues in healthcare research. Conclusions: Future studies should focus on improving the reliability of LLM applications in complex health-related tasks, as well as investigating the mechanisms of how LLM applications brought bias and privacy issues. Considering the vast accessibility of LLMs, legal, social, and technical efforts are all needed to address concerns about LLMs to promote, improve, and regularize the application of LLMs in healthcare.

2.
Lancet ; 403(10445): 2751-2754, 2024 Jun 22.
Artículo en Inglés | MEDLINE | ID: mdl-38795714

RESUMEN

On June 24, 2022, the US Supreme Court's decision in Dobbs v Jackson Women's Health Organization marked the removal of the constitutional right to abortion in the USA, introducing a complex ethical and legal landscape for patients and providers. This shift has had immediate health and equity repercussions, but it is also crucial to examine the broader impacts on states, health-care systems, and society as a whole. Restrictions on abortion access extend beyond immediate reproductive care concerns, necessitating a comprehensive understanding of the ruling's consequences across micro and macro levels. To mitigate potential harm, it is imperative to establish a research agenda that informs policy making and ensures effective long-term monitoring and reporting, addressing both immediate and future impacts.


Asunto(s)
Decisiones de la Corte Suprema , Salud de la Mujer , Humanos , Femenino , Estados Unidos , Embarazo , Salud de la Mujer/legislación & jurisprudencia , Accesibilidad a los Servicios de Salud/legislación & jurisprudencia , Derechos de la Mujer/legislación & jurisprudencia , Aborto Legal/legislación & jurisprudencia , Aborto Inducido/legislación & jurisprudencia , Aborto Inducido/ética
3.
Lancet ; 403(10445): 2747-2750, 2024 Jun 22.
Artículo en Inglés | MEDLINE | ID: mdl-38795713

RESUMEN

The Dobbs v Jackson Women's Health Organization Supreme Court decision, which revoked the constitutional right to abortion in the USA, has impacted the national medical workforce. Impacts vary across states, but providers in states with restrictive abortion laws now must contend with evolving legal and ethical challenges that have the potential to affect workforce safety, mental health, education, and training opportunities, in addition to having serious impacts on patient health and far-reaching societal consequences. Moreover, Dobbs has consequences on almost every facet of the medical workforce, including on physicians, nurses, pharmacists, and others who work within the health-care system. Comprehensive research is urgently needed to understand the wide-ranging implications of Dobbs on the medical workforce, including legal, ethical, clinical, and psychological dimensions, to inform evidence-based policies and standards of care in abortion-restrictive settings. Lessons from the USA might also have global relevance for countries facing similar restrictions on reproductive care.


Asunto(s)
Decisiones de la Corte Suprema , Femenino , Humanos , Embarazo , Aborto Inducido/legislación & jurisprudencia , Aborto Inducido/ética , Aborto Legal/legislación & jurisprudencia , Personal de Salud , Fuerza Laboral en Salud , Estados Unidos , Salud de la Mujer
5.
Neoreviews ; 25(3): e127-e138, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38425196

RESUMEN

Clinicians practicing in a modern NICU are noticing an increase in the proportion of patients who undergo genetic testing as well as changes in the types of genetic testing patients receive. These trends are not surprising given the increasing recognition of the genetic causes of neonatal illness and recent advances in genetic technology. Yet, the expansion of genetic testing in the NICU also raises a number of ethical questions. In this article, we will review the ethical issues raised by genetic testing, with a focus on the practical implications for neonatologists. First, we outline the complexities of measuring benefit, or utility, for neonatal genetic testing. Next, we discuss potential harms such as inequity, unexpected findings, disability biases, and legal risks. Finally, we conclude with a discussion of ethical issues related to consent for genetic testing. Throughout this article, we highlight solutions to challenges toward the ultimate goal of minimizing harms and maximizing the substantial potential benefits of genetic medicine in the NICU.


Asunto(s)
Pruebas Genéticas , Unidades de Cuidado Intensivo Neonatal , Recién Nacido , Humanos
6.
Nat Med ; 30(2): 480-487, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38374346

RESUMEN

Polygenic risk scores (PRSs) have improved in predictive performance, but several challenges remain to be addressed before PRSs can be implemented in the clinic, including reduced predictive performance of PRSs in diverse populations, and the interpretation and communication of genetic results to both providers and patients. To address these challenges, the National Human Genome Research Institute-funded Electronic Medical Records and Genomics (eMERGE) Network has developed a framework and pipeline for return of a PRS-based genome-informed risk assessment to 25,000 diverse adults and children as part of a clinical study. From an initial list of 23 conditions, ten were selected for implementation based on PRS performance, medical actionability and potential clinical utility, including cardiometabolic diseases and cancer. Standardized metrics were considered in the selection process, with additional consideration given to strength of evidence in African and Hispanic populations. We then developed a pipeline for clinical PRS implementation (score transfer to a clinical laboratory, validation and verification of score performance), and used genetic ancestry to calibrate PRS mean and variance, utilizing genetically diverse data from 13,475 participants of the All of Us Research Program cohort to train and test model parameters. Finally, we created a framework for regulatory compliance and developed a PRS clinical report for return to providers and for inclusion in an additional genome-informed risk assessment. The initial experience from eMERGE can inform the approach needed to implement PRS-based testing in diverse clinical settings.


Asunto(s)
Enfermedad Crónica , Puntuación de Riesgo Genético , Salud Poblacional , Adulto , Niño , Humanos , Comunicación , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Factores de Riesgo , Estados Unidos
7.
Pediatrics ; 152(3)2023 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-37555276

RESUMEN

Despite apparent disagreement in the scholarly literature on standards of pediatric decision making, a recognition that similar norms underpin many of the dominant frameworks motivated a June 2022 symposium "Best Interests and Beyond: Standards of Decision Making in Pediatrics" in St Louis, MO. Over the course of this 3-day symposium, 17 expert scholars (see author list) deliberated on the question "In the context of US pediatric care, what moral precepts ought to guide parents and clinicians in medical decision making for children?" The symposium and subsequent discussion generated 6 consensus recommendations for pediatric decision making, constructed with the primary goals of accessibility, teachability, and feasibility for practicing clinicians, parents, and legal guardians. In this article, we summarize these recommendations, including their justification, limitations, and remaining concerns.


Asunto(s)
Toma de Decisiones , Padres , Niño , Humanos , Consenso , Disentimientos y Disputas , Principios Morales
8.
PLoS One ; 18(7): e0288349, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37428775

RESUMEN

BACKGROUND: Intellectual conflicts of interest (COI), like financial COI, may threaten the validity and trustworthiness of clinical practice guidelines (CPGs). However, comparatively little is known about intellectual COI in CPGs. This study sought to estimate the prevalence of intellectual COI and corresponding management strategies among cardiology and pulmonology CPGs. METHODS: We conducted a retrospective document review of CPGs published by cardiology or pulmonology professional societies from the United States, Canada, or Europe from 2018 to 2019 available via the Emergency Care Research Institute, Guidelines International Network, or Medscape databases. We assessed the percentage of authors with an intellectual COI, defined as i) authorship on a study reviewed by the CPG, ii) authorship of a prior editorial related to a CPG recommendation, or iii) authorship of a prior related CPG. Management strategies assessed included use of GRADE methodology, inclusion of a methodologist, and recusals due to intellectual COI. Outcomes were assessed overall and compared between cardiology and pulmonology CPGs. RESULTS: Among the 39 CPGs identified (14 cardiology, 25 pulmonology), there were a total of 737 authors, of whom 473 (64%) had at least one intellectual COI. Among all CPGs, a median of 67% (Interquartile Range 50%-76%) of authors had at least one intellectual COI, and COI was more prevalent among cardiology compared with pulmonology CPGs (84% vs 57%, p<0.001). There was variable use of management strategies among the CPGs, including use of GRADE methodology (64% of CPGs), inclusion of a methodologist (49%), and recusals due to intellectual COI (0%). CONCLUSION: Intellectual conflicts of interest appear to be highly prevalent and under-reported among cardiology and pulmonology CPGs, which may threaten their validity. Greater attention to and improved management of intellectual COI by CPG-producing organizations is needed.


Asunto(s)
Cardiología , Neumología , Conflicto de Intereses , Revelación , Estudios Retrospectivos , Sociedades , Estados Unidos , Guías de Práctica Clínica como Asunto
9.
medRxiv ; 2023 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-37333246

RESUMEN

Polygenic risk scores (PRS) have improved in predictive performance supporting their use in clinical practice. Reduced predictive performance of PRS in diverse populations can exacerbate existing health disparities. The NHGRI-funded eMERGE Network is returning a PRS-based genome-informed risk assessment to 25,000 diverse adults and children. We assessed PRS performance, medical actionability, and potential clinical utility for 23 conditions. Standardized metrics were considered in the selection process with additional consideration given to strength of evidence in African and Hispanic populations. Ten conditions were selected with a range of high-risk thresholds: atrial fibrillation, breast cancer, chronic kidney disease, coronary heart disease, hypercholesterolemia, prostate cancer, asthma, type 1 diabetes, obesity, and type 2 diabetes. We developed a pipeline for clinical PRS implementation, used genetic ancestry to calibrate PRS mean and variance, created a framework for regulatory compliance, and developed a PRS clinical report. eMERGE's experience informs the infrastructure needed to implement PRS-based implementation in diverse clinical settings.

10.
Am J Hum Genet ; 110(7): 1021-1033, 2023 07 06.
Artículo en Inglés | MEDLINE | ID: mdl-37343562

RESUMEN

Two major goals of the Electronic Medical Record and Genomics (eMERGE) Network are to learn how best to return research results to patient/participants and the clinicians who care for them and also to assess the impact of placing these results in clinical care. Yet since its inception, the Network has confronted a host of challenges in achieving these goals, many of which had ethical, legal, or social implications (ELSIs) that required consideration. Here, we share impediments we encountered in recruiting participants, returning results, and assessing their impact, all of which affected our ability to achieve the goals of eMERGE, as well as the steps we took to attempt to address these obstacles. We divide the domains in which we experienced challenges into four broad categories: (1) study design, including recruitment of more diverse groups; (2) consent; (3) returning results to participants and their health care providers (HCPs); and (4) assessment of follow-up care of participants and measuring the impact of research on participants and their families. Since most phases of eMERGE have included children as well as adults, we also address the particular ELSI posed by including pediatric populations in this research. We make specific suggestions for improving translational genomic research to ensure that future projects can effectively return results and assess their impact on patient/participants and providers if the goals of genomic-informed medicine are to be achieved.


Asunto(s)
Registros Electrónicos de Salud , Genómica , Niño , Adulto , Humanos , Genoma , Investigación Biomédica Traslacional , Grupos de Población
11.
J Pediatr ; 260: 113524, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37245625

RESUMEN

OBJECTIVE: To assess the comparability of international ethics principles and practices used in regulating pediatric research as a first step in determining whether reciprocal deference for international ethics review is feasible. Prior studies by the authors focused on other aspects of international health research, such as biobanks and direct-to-participant genomic research. The unique nature of pediatric research and its distinctive regulation by many countries warranted a separate study. STUDY DESIGN: A representative sample of 21 countries was selected, with geographical, ethnic, cultural, political, and economic diversity. A leading expert on pediatric research ethics and law was selected to summarize the ethics review of pediatric research in each country. To ensure the comparability of the responses, a 5-part summary of pediatric research ethics principles in the US was developed by the investigators and distributed to all country representatives. The international experts were asked to assess and describe whether principles in their country and the US were congruent. Results were obtained and compiled in the spring and summer of 2022. RESULTS: Some of the countries varied in their conceptualization or description of one or more ethical principles for pediatric research, but overall, the countries in the study demonstrated a fundamental concordance. CONCLUSIONS: Similar regulation of pediatric research in 21 countries suggests that international reciprocity is a viable strategy.


Asunto(s)
Bancos de Muestras Biológicas , Ética en Investigación , Niño , Humanos , Investigadores , Consentimiento Informado
12.
Genet Med ; 25(9): 100906, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37246632

RESUMEN

Polygenic risk scores (PRS) have potential to improve health care by identifying individuals that have elevated risk for common complex conditions. Use of PRS in clinical practice, however, requires careful assessment of the needs and capabilities of patients, providers, and health care systems. The electronic Medical Records and Genomics (eMERGE) network is conducting a collaborative study which will return PRS to 25,000 pediatric and adult participants. All participants will receive a risk report, potentially classifying them as high risk (∼2-10% per condition) for 1 or more of 10 conditions based on PRS. The study population is enriched by participants from racial and ethnic minority populations, underserved populations, and populations who experience poorer medical outcomes. All 10 eMERGE clinical sites conducted focus groups, interviews, and/or surveys to understand educational needs among key stakeholders-participants, providers, and/or study staff. Together, these studies highlighted the need for tools that address the perceived benefit/value of PRS, types of education/support needed, accessibility, and PRS-related knowledge and understanding. Based on findings from these preliminary studies, the network harmonized training initiatives and formal/informal educational resources. This paper summarizes eMERGE's collective approach to assessing educational needs and developing educational approaches for primary stakeholders. It discusses challenges encountered and solutions provided.


Asunto(s)
Registros Electrónicos de Salud , Etnicidad , Adulto , Humanos , Niño , Grupos Minoritarios , Factores de Riesgo , Genómica
14.
Sci Rep ; 13(1): 6932, 2023 04 28.
Artículo en Inglés | MEDLINE | ID: mdl-37117219

RESUMEN

As recreational genomics continues to grow in its popularity, many people are afforded the opportunity to share their genomes in exchange for various services, including third-party interpretation (TPI) tools, to understand their predisposition to health problems and, based on genome similarity, to find extended family members. At the same time, these services have increasingly been reused by law enforcement to track down potential criminals through family members who disclose their genomic information. While it has been observed that many potential users shy away from such data sharing when they learn that their privacy cannot be assured, it remains unclear how potential users' valuations of the service will affect a population's behavior. In this paper, we present a game theoretic framework to model interdependent privacy challenges in genomic data sharing online. Through simulations, we find that in addition to the boundary cases when (1) no player and (2) every player joins, there exist pure-strategy Nash equilibria when a relatively small portion of players choose to join the genomic database. The result is consistent under different parametric settings. We further examine the stability of Nash equilibria and illustrate that the only equilibrium that is resistant to a random dropping of players is when all players join the genomic database. Finally, we show that when players consider the impact that their data sharing may have on their relatives, the only pure strategy Nash equilibria are when either no player or every player shares their genomic data.


Asunto(s)
Enfermedad del Hígado Graso no Alcohólico , Privacidad , Humanos , Difusión de la Información , Familia , Genómica
15.
J Med Internet Res ; 25: e43251, 2023 03 24.
Artículo en Inglés | MEDLINE | ID: mdl-36961506

RESUMEN

The potential of artificial intelligence (AI) to reduce health care disparities and inequities is recognized, but it can also exacerbate these issues if not implemented in an equitable manner. This perspective identifies potential biases in each stage of the AI life cycle, including data collection, annotation, machine learning model development, evaluation, deployment, operationalization, monitoring, and feedback integration. To mitigate these biases, we suggest involving a diverse group of stakeholders, using human-centered AI principles. Human-centered AI can help ensure that AI systems are designed and used in a way that benefits patients and society, which can reduce health disparities and inequities. By recognizing and addressing biases at each stage of the AI life cycle, AI can achieve its potential in health care.


Asunto(s)
Inteligencia Artificial , Aprendizaje Automático , Humanos , Disparidades en Atención de Salud , Sesgo
16.
J Am Med Inform Assoc ; 30(5): 907-914, 2023 04 19.
Artículo en Inglés | MEDLINE | ID: mdl-36809550

RESUMEN

OBJECTIVE: The All of Us Research Program makes individual-level data available to researchers while protecting the participants' privacy. This article describes the protections embedded in the multistep access process, with a particular focus on how the data was transformed to meet generally accepted re-identification risk levels. METHODS: At the time of the study, the resource consisted of 329 084 participants. Systematic amendments were applied to the data to mitigate re-identification risk (eg, generalization of geographic regions, suppression of public events, and randomization of dates). We computed the re-identification risk for each participant using a state-of-the-art adversarial model specifically assuming that it is known that someone is a participant in the program. We confirmed the expected risk is no greater than 0.09, a threshold that is consistent with guidelines from various US state and federal agencies. We further investigated how risk varied as a function of participant demographics. RESULTS: The results indicated that 95th percentile of the re-identification risk of all the participants is below current thresholds. At the same time, we observed that risk levels were higher for certain race, ethnic, and genders. CONCLUSIONS: While the re-identification risk was sufficiently low, this does not imply that the system is devoid of risk. Rather, All of Us uses a multipronged data protection strategy that includes strong authentication practices, active monitoring of data misuse, and penalization mechanisms for users who violate terms of service.


Asunto(s)
Salud Poblacional , Humanos , Masculino , Femenino , Privacidad , Gestión de Riesgos , Seguridad Computacional , Investigadores
18.
Annu Rev Genomics Hum Genet ; 24: 333-346, 2023 08 25.
Artículo en Inglés | MEDLINE | ID: mdl-36630592

RESUMEN

This article reviews evolving legal implications for clinicians and researchers as genomics is used more widely in both the clinic and in translational research, reflecting rapid changes in scientific knowledge as well as the surrounding cultural and political environment. Professionals will face new and changing duties to make or act upon a genetic diagnosis, address direct-to-consumer genetic testing in patient care, consider the health implications of results for patients' family members, and recontact patients when test results change over time. Professional duties in reproductive genetic testing will need to be recalibrated in response to disruptive changes to reproductive rights in the United States. We also review the debate over who controls the flow of genetic information and who is responsible for its protection, considering the globally influential European Union General Data Protection Regulation and the rapidly evolving data privacy law landscape of the United States.


Asunto(s)
Instituciones de Atención Ambulatoria , Pruebas Dirigidas al Consumidor , Humanos , Unión Europea , Familia , Genómica
19.
Genet Med ; 25(4): 100006, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36621880

RESUMEN

PURPOSE: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk. METHODS: To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results. RESULTS: GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022. CONCLUSION: Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.


Asunto(s)
Genoma , Genómica , Humanos , Estudios Prospectivos , Genómica/métodos , Factores de Riesgo , Medición de Riesgo
20.
Cardiol Young ; 33(8): 1387-1395, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35942903

RESUMEN

OBJECTIVE: To better understand parents' accounts of their prenatal and postnatal experience after prenatal diagnosis of CHD - particularly emotional processing and coping mechanisms - to identify strategies to improve support. METHODS: This single-centre, longitudinal qualitative study included pregnant mothers and their support persons seen in Fetal Cardiology Clinic at Vanderbilt Children's Hospital from May through August 2019 for probable complex CHD. Twenty-seven individuals from 17 families participated in 62 phone interviews during pregnancy and postpartum: 27 conducted after the initial prenatal cardiology consultation, 15 after a follow-up prenatal visit, and 20 after birth. Applied thematic analysis approach was used to code and analyse transcribed interviews. Coding and codebook revisions occurred iteratively; intercoder reliability was >80%. RESULTS: Patients included mothers (16 [59%]), fathers (8 [30%]), and other support persons (3 [11%]). Initial fetal diagnoses included a range of moderate to severe CHD. Prenatally, parents sought to maintain hope while understanding the diagnosis; planning for the future rather than focusing on day-to-day was more common if prognoses were better. Postnatally, with confirmation of prenatal diagnoses, parents' sense of control expanded, and they desired more active engagement in clinical decision making. CONCLUSIONS: To enhance effective communication and support, understanding how parents conceptualise hope in relation to diagnosis and how that may evolve over time is critical. Expectant parents whose child has a significant risk of mortality may demonstrate hope by focusing on positivity. As prognostic uncertainty diminishes postpartum, the parental role on the team may shift, requiring clinicians to provide different support.


Asunto(s)
Padres , Diagnóstico Prenatal , Embarazo , Femenino , Niño , Humanos , Reproducibilidad de los Resultados , Madres , Atención Prenatal
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