scholarly journals The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research

2021 ◽  
Author(s):  
Matthew Norstad ◽  
Simon Outram ◽  
Julia E.H. Brown ◽  
Astrid N. Zamora ◽  
Barbara A. Koenig ◽  
...  
Keyword(s):  
Empirical Evidence ◽  
Data Sharing ◽  
Genomic Medicine ◽  
Clinical Genomics ◽  
Genomics Research

Introduction to the special section on Increasing Replicability, Transparency, and Openness in Clinical Psychology

2019 ◽  
Author(s):  
Jennifer L Tackett ◽  
Josh Miller
Keyword(s):  
Empirical Evidence ◽  
Data Sharing ◽  
Clinical Psychology ◽  
Special Section ◽  
Psychological Research ◽  
Open Science ◽  
Clinical Psychologists ◽  
Existing Problems

As psychological research comes under increasing fire for the crisis of replicability, attention has turned to methods and practices that facilitate (or hinder) a more replicable and veridical body of empirical evidence. These trends have focused on “open science” initiatives, including an emphasis on replication, transparency, and data sharing. Despite this broader movement in psychology, clinical psychologists and psychiatrists have been largely absent from the broader conversation on documenting the extent of existing problems as well as generating solutions to problematic methods and practices in our area (Tackett et al., 2017). The goal of the current special section was to bring together psychopathology researchers to explore these and related areas as they pertain to the types of research conducted in clinical psychology and allied disciplines.

Clinical genomics in the 21st century: The fine balance between ethics and science

2021 ◽  
pp. 147775092110366
Author(s):  
Terence YS Liew ◽  
Chun Y Khoo
Keyword(s):  
Clinical Practice ◽  
Informed Consent ◽  
21St Century ◽  
Preventive Medicine ◽  
Genomic Medicine ◽  
Traditional Practices ◽  
Current Clinical Practice ◽  
Common Goal ◽  
Clinical Genomics ◽  
Ethical Concerns

The 21st century has been revolutionary for the field of clinical genomics, with major advancements and breakthroughs over the years. It is now considered an instrumental tool in clinical and preventive medicine and has been used on a day-to-day basis to complement current clinical practice. However, with advancements in genomics comes greater bioethical concerns, which becomes increasingly complex with more cutting-edge technology. Some of the major ethical concerns include obtaining informed consent, possibility for genetic enhancements and eugenics, genomic equity and potential discrimination and cloning. It is imperative that we appreciate the benefits of genomic medicine in complementing traditional practices, identify and address the ethical concerns with relation to the practice of genomic medicine, and to ensure a common goal of improving human lives. With these in mind, the practice of genomics can have maximum impact in the collective health of the population, with greater benefit to all.

scholarly journals Bridging genomics research between developed and developing countries: the Genomic Medicine Alliance

2014 ◽  
Vol 11 (7) ◽  
pp. 615-623 ◽  
Author(s):  
David N Cooper ◽  
Angela Brand ◽  
Vita Dolzan ◽  
Paolo Fortina ◽  
Federico Innocenti ◽  
...  
Keyword(s):  
Developing Countries ◽  
Genomic Medicine ◽  
Genomics Research

scholarly journals Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia

2019 ◽  
Vol 138 (11-12) ◽  
pp. 1237-1246 ◽  
Author(s):  
Richard Milne ◽  
◽  
Katherine I. Morley ◽  
Heidi Howard ◽  
Emilia Niemiec ◽  
...  
Keyword(s):  
Data Sharing ◽  
General Public ◽  
Personal Experience ◽  
Online Survey ◽  
Latent Class ◽  
Public Attitudes ◽  
Genomic Medicine ◽  
Genomic Data ◽  
Cross Sectional ◽  
The Usa

Abstract Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Australia (n = 8967). Participants were most likely to trust their medical doctor and less likely to trust other entities named. Company researchers were least likely to be trusted. Low, Variable and High Trust classes were defined using latent class analysis. Members of the High Trust class were more likely to be under 50 years, male, with children, hold religious beliefs, have personal experience of genetics and be from the USA. They were most likely to be willing to donate their genomic and health data for clinical and research uses. The Low Trust class were less reassured than other respondents by laws preventing exploitation of donated information. Variation in trust, its relation to areas of concern about the use of genomic data and potential of legislation are considered. These findings have relevance for efforts to expand genomic medicine and data sharing beyond those with personal experience of genetics or research participants.

scholarly journals Solidarity in genomic healthcare? Results of the Belgian citizen forum (2018)

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
C Mayeur ◽  
W Van Hoof
Keyword(s):  
Data Sharing ◽  
Common Good ◽  
Public Involvement ◽  
Equal Opportunity ◽  
Genomic Medicine ◽  
Genomic Data ◽  
The Common Good ◽  
Medical Needs ◽  
The Common ◽  
The Government

Abstract Genomic medicine requires to collect and use a huge amount of patient and citizen data. Therefore, the Belgian Minister of Public Health decided to organize a citizen forum on the ethical, legal and societal issues (ELSI) surrounding the use of genomic information in healthcare. This initiative follows the trend of public involvement in Europe regarding ELSI in genomics. During three weekends, a panel of 32 citizens, informed by experts of different backgrounds, produced political recommendations. We will focus on their conception of solidarity, which is crucial to take into account when considering policies on data sharing in genomics. Citizens of the panel consider their genome simultaneously as the individual’s property and as something to be shared for the common good. As a consequence, the panel agrees to support solidarity provided individual interests, such as privacy protection, are respected. By solidarity, the panel means supporting genomic data sharing for the common good, which they define as scientific research that improves knowledge (on both prevention and diagnostics) to build a fair society where everyone has an equal opportunity to live healthy. According to the panel, the government should actively encourage citizens to share their genomic data, but no one can be forced to do it. For instance, the government could motivate citizens to share their genomic data by partially reimbursing genomic tests undertaken without medical prescription. However, because everyone has an equal right to live healthy, the panel esteems that genomic tests for medical needs should be accessible for all, thanks to a well-thought-out and sustainable refund system. Key messages Citizens support solidarity in genomic medicine, but demand proportional individual protection. As citizens become increasingly important stakeholders in genomic medicine, all public authorities should actively engage citizens in relevant healthcare policies.

scholarly journals The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System

10.2196/25576 ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. e25576
Author(s):  
Elena Valeryevna Feofanova ◽  
Guo-Qiang Zhang ◽  
Samden Lhatoo ◽  
Ginger A Metcalf ◽  
Eric Boerwinkle ◽  
...  
Keyword(s):  
Patient Care ◽  
Implementation Science ◽  
Health Informatics ◽  
Domain Knowledge ◽  
Genomic Medicine ◽  
Science Research ◽  
Health Science ◽  
Science Center ◽  
Clinical Genomics ◽  
Genomic Knowledge

Background Genomic medicine is poised to improve care for common complex diseases such as epilepsy, but additional clinical informatics and implementation science research is needed for it to become a part of the standard of care. Epilepsy is an exemplary complex neurological disorder for which DNA diagnostics have shown to be advantageous for patient care. Objective We designed the Implementation Science for Genomic Health Translation (INSIGHT) study to leverage the fact that both the clinic and testing laboratory control the development and customization of their respective electronic health records and clinical reporting platforms. Through INSIGHT, we can rapidly prototype and benchmark novel approaches to incorporating clinical genomics into patient care. Of particular interest are clinical decision support tools that take advantage of domain knowledge from clinical genomics and can be rapidly adjusted based on feedback from clinicians. Methods Building on previously developed evidence and infrastructure components, our model includes the following: establishment of an intervention-ready genomic knowledge base for patient care, creation of a health informatics platform and linking it to a clinical genomics reporting system, and scaling and evaluation of INSIGHT following established implementation science principles. Results INSIGHT was approved by the Institutional Review Board at the University of Texas Health Science Center at Houston on May 15, 2020, and is designed as a 2-year proof-of-concept study beginning in December 2021. By design, 120 patients from the Texas Comprehensive Epilepsy Program are to be enrolled to test the INSIGHT workflow. Initial results are expected in the first half of 2023. Conclusions INSIGHT’s domain-specific, practical but generalizable approach may help catalyze a pathway to accelerate translation of genomic knowledge into impactful interventions in patient care. International Registered Report Identifier (IRRID) PRR1-10.2196/25576

scholarly journals PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed rare disease patients via the MatchMaker Exchange network

2021 ◽  
Author(s):  
Chiara Rasi ◽  
Daniel Nilsson ◽  
Måns Magnusson ◽  
Nicole Lesko ◽  
Kristina Lagerstedt-Robinson ◽  
...  
Keyword(s):  
Open Source ◽  
Rare Disease ◽  
Genomic Medicine ◽  
Similarity Score ◽  
Patient Data ◽  
University Hospital ◽  
Phenotypic Characteristics ◽  
Clinical Genomics ◽  
Rest Api ◽  
Exchange Network

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 production 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.

scholarly journals Communicating Identifiability Risks to Biobank Donors

2017 ◽  
Vol 27 (1) ◽  
pp. 123-136 ◽  
Author(s):  
T.J. KASPERBAUER ◽  
MICKEY GJERRIS ◽  
GUNHILD WALDEMAR ◽  
PETER SANDØE
Keyword(s):  
Risk Communication ◽  
Data Sharing ◽  
Data Protection ◽  
Consent Process ◽  
Genomics Research ◽  
Simplified Method ◽  
Different Types ◽  
Privacy Breaches ◽  
Identification Techniques ◽  
Current Standards

Abstract:Recent highly publicized privacy breaches in healthcare and genomics research have led many to question whether current standards of data protection are adequate. Improvements in de-identification techniques, combined with pervasive data sharing, have increased the likelihood that external parties can track individuals across multiple databases. This article focuses on the communication of identifiability risks in the process of obtaining consent for donation and research. Most ethical discussions of identifiability risks have focused on the severity of the risk and how it might be mitigated, and what precisely is at stake in pervasive data sharing. However, there has been little discussion of whether and how to communicate the risk to potential donors. We review the ethical arguments behind favoring different types of risk communication in the consent process, and outline how identifiability concerns can be incorporated into either a detailed or a simplified method of communicating risks during the consent process.

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