scholarly journals Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection

2021 ◽  
Author(s):  
Wendy K. Chung ◽  
Kyle Brothers ◽  
Angela Bradbury ◽  
Sirisak Chanprasert ◽  
Lori Orlando ◽  
...  
Keyword(s):  
Data Collection ◽  
Working Group ◽  
Social Issues ◽  
Genomic Medicine ◽  
Steering Committee ◽  
Genomic Research ◽  
Return Of Results ◽  
Standard Data ◽  
New Research ◽  
Research Domain

Abstract Purpose The PhenX Toolkit (www.phenxtoolkit.org), an online catalog of recommended measurement protocols, facilitates cross-study analyses for research with human participants. The PhenX Steering Committee recommended genomic medicine implementation as a new research domain, with the following scope: genomic knowledge and education (both patients and providers); implementation science; changes in management and treatment; return of results; patient outcomes; and ethical, legal, and social issues (ELSI) associated with genomic research. Methods A seven-member expert Working Group convened in October 2019 to identify well-established measurement protocols for a new genomic medicine implementation domain and used the established PhenX consensus process to select measurement protocols for inclusion in the PhenX Toolkit. Results The Working Group recommended 15 measurement protocols for inclusion in the PhenX Toolkit, with priority given to those with empirical evidence supporting validity. Consortia funded by the National Institutes of Health, and particularly the National Human Genome Research Institute, proved critical in identifying protocols with established utility in this research domain, and identified protocols that were developed through a rigorous process for scope elements that lacked formally validated protocols. Conclusion Use of these protocols, which were released in September 2020, can facilitate standard data collection for genomic medicine implementation research.

scholarly journals ‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research

2021 ◽  
Author(s):  
Matilda A. Haas ◽  
Harriet Teare ◽  
Megan Prictor ◽  
Gabi Ceregra ◽  
Miranda E. Vidgen ◽  
...  
Keyword(s):  
Large Scale ◽  
Genomic Medicine ◽  
International Standards ◽  
Security And Privacy ◽  
Genomic Research ◽  
Return Of Results ◽  
Future Research ◽  
Design And Development ◽  
Participant Engagement ◽  
Dynamic Consent

AbstractThe complexities of the informed consent process for participating in research in genomic medicine are well-documented. Inspired by the potential for Dynamic Consent to increase participant choice and autonomy in decision-making, as well as the opportunities for ongoing participant engagement it affords, we wanted to trial Dynamic Consent and to do so developed our own web-based application (web app) called CTRL (control). This paper documents the design and development of CTRL, for use in the Australian Genomics study: a health services research project building evidence to inform the integration of genomic medicine into mainstream healthcare. Australian Genomics brought together a multi-disciplinary team to develop CTRL. The design and development process considered user experience; security and privacy; the application of international standards in data sharing; IT, operational and ethical issues. The CTRL tool is now being offered to participants in the study, who can use CTRL to keep personal and contact details up to date; make consent choices (including indicate preferences for return of results and future research use of biological samples, genomic and health data); follow their progress through the study; complete surveys, contact the researchers and access study news and information. While there are remaining challenges to implementing Dynamic Consent in genomic research, this study demonstrates the feasibility of building such a tool, and its ongoing use will provide evidence about the value of Dynamic Consent in large-scale genomic research programs.

Social Issues Related To Gene Patenting in Latin America

2011 ◽  
pp. 152-170
Author(s):  
Eduardo Rodriguez ◽  
Fernando Lolas
Keyword(s):  
Latin America ◽  
Latin American ◽  
Social Issues ◽  
Social Representations ◽  
Genomic Medicine ◽  
Genomic Research ◽  
Underdeveloped Countries ◽  
Genetic Modifications ◽  
Access To Health ◽  
Level Of Knowledge

The chapter reports on the experiences of both experts and lay people on the level of knowledge and social representations of genomic research and its applications in a number of Latin American developing countries. Issues discussed include access to prevention and therapeutic methods related to genomic medicine in Latin America, risks associated to genetic modifications in humans, lack of equity in the access to health benefits, control by biotechnological companies, commercialization of gene sequences through patents which leads to commercial exploitation of underdeveloped countries, among others

Using Personal Cell Phones for Ecological Momentary Assessment

2013 ◽  
Vol 18 (1) ◽  
pp. 3-11 ◽  
Author(s):  
Emmanuel Kuntsche ◽  
Florian Labhart
Keyword(s):  
Data Collection ◽  
Ecological Momentary Assessment ◽  
Communication Systems ◽  
Cell Phones ◽  
Personal Digital Assistants ◽  
Natural Environments ◽  
Mobility Patterns ◽  
Standard Data ◽  
Ecological Momentary ◽  
Momentary Assessment

Ecological Momentary Assessment (EMA) is a way of collecting data in people’s natural environments in real time and has become very popular in social and health sciences. The emergence of personal digital assistants has led to more complex and sophisticated EMA protocols but has also highlighted some important drawbacks. Modern cell phones combine the functionalities of advanced communication systems with those of a handheld computer and offer various additional features to capture and record sound, pictures, locations, and movements. Moreover, most people own a cell phone, are familiar with the different functions, and always carry it with them. This paper describes ways in which cell phones have been used for data collection purposes in the field of social sciences. This includes automated data capture techniques, for example, geolocation for the study of mobility patterns and the use of external sensors for remote health-monitoring research. The paper also describes cell phones as efficient and user-friendly tools for prompt manual data collection, that is, by asking participants to produce or to provide data. This can either be done by means of dedicated applications or by simply using the web browser. We conclude that cell phones offer a variety of advantages and have a great deal of potential for innovative research designs, suggesting they will be among the standard data collection devices for EMA in the coming years.

The Psychophysiology of Anxiety and Mood Disorders

2017 ◽  
Vol 225 (3) ◽  
pp. 175-188 ◽  
Author(s):  
Peter J. Lang ◽  
Lisa M. McTeague ◽  
Margaret M. Bradley
Keyword(s):  
Mental Health ◽  
Heart Rate ◽  
Brain Function ◽  
Physiological Reactivity ◽  
Research Domain Criteria ◽  
Diagnostic Systems ◽  
Psychophysiological Reactivity ◽  
Diagnostic Categories ◽  
New Research ◽  
Research Domain

Abstract. Several decades of research are reviewed, assessing patterns of psychophysiological reactivity in anxiety patients responding to a fear/threat imagery challenge. Findings show substantive differences in these measures within principal diagnostic categories, questioning the reliability and categorical specificity of current diagnostic systems. Following a new research framework (US National Institute of Mental Health [NIMH], Research Domain Criteria [RDoC]; Cuthbert & Insel, 2013 ), dimensional patterns of physiological reactivity are explored in a large sample of anxiety and mood disorder patients. Patients’ responses (e.g., startle reflex, heart rate) during fear/threat imagery varied significantly with higher questionnaire measured “negative affect,” stress history, and overall life dysfunction – bio-marking disorder groups, independent of Diagnostic and Statistical Manuals (DSM). The review concludes with a description of new research, currently underway, exploring brain function indices (structure activation, circuit connectivity) as potential biological classifiers (collectively with the reflex physiology) of anxiety and mood pathology.

scholarly journals Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR

ACI Open ◽  
2020 ◽  
Vol 04 (02) ◽  
pp. e132-e135
Author(s):  
Luke V. Rasmussen ◽  
Christin Hoell ◽  
Maureen E. Smith ◽  
Rex Chisholm ◽  
Justin Starren ◽  
...  
Keyword(s):  
Genetic Research ◽  
Lessons Learned ◽  
Return Of Results ◽  
Patient Portal ◽  
Test Results ◽  
Research Results ◽  
Genetic Test Results ◽  
Future Return ◽  
New Research ◽  
Genetic Results

Abstract Background While there have been published reports detailing technical challenges of incorporating genetic test results into the electronic health record (EHR) with proposed solutions, less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Objectives This study was aimed to describe unanticipated issues that arose returning genetic research results through the EHR as part of the National Human Genome Research Institute (NHGRI)-funded electronic Medical Records and Genomics (eMERGE) 3 consortium, and provide lessons learned for future implementations Methods We sequenced 3,000 participants on a 109-gene panel and returned genetic results initially in person and/or by letter, with a later release directly into the EHR and patient portal. Results When results were returned through the EHR, multiple participants expressed confusion and contacted the health system, resulting in our institution temporarily freezing our return of research results. Discussion We determined the likely causes of this issue to be (1) the delay between enrollment and results return, (2) inability to personalize mass e-mail messages announcing new research test results in the EHR, (3) limited space for description of test results in the EHR, and (4) the requirement to list an ordering physician for research results in the EHR. For future return of results, we propose sending preparatory e-mails to participants, including screenshots of how they can expect to see their results presented in the EHR portal. Conclusion We hope our lessons learned can provide helpful guidance to other sites implementing research genetic results into the EHR and can encourage EHR developers to incorporate greater flexibility in the future.

scholarly journals Indispensability of Clinical Bioinformatics for Effective Implementation of Genomic Medicine in Pathology Laboratories

ACI Open ◽  
2020 ◽  
Vol 04 (02) ◽  
pp. e167-e172
Author(s):  
Srikar Chamala ◽  
Siddardha Majety ◽  
Shesh Nath Mishra ◽  
Kimberly J. Newsom ◽  
Shaileshbhai Revabhai Gothi ◽  
...  
Keyword(s):  
Patient Care ◽  
Clinical Laboratory ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Clinical Pathology ◽  
Genetic Mutation ◽  
Genomic Research ◽  
Pathology Laboratory ◽  
Clinical Bioinformatics ◽  
Effective Implementation

AbstractPatient care is rapidly evolving toward the inclusion of precision genomic medicine when genomic tests are used by clinicians to determine disease predisposition, prognosis, diagnosis, and improve therapeutic decision-making. However, unlike other clinical pathology laboratory tests, the development, deployment, and delivery of genomic tests and results are an intricate process. Genomic technologies are diverse, fast changing, and generate massive data. Implementation of these technologies in a Clinical Laboratory Improvement Amendments-certified and College of American Pathologists-accredited pathology laboratory often require custom clinical grade computational data analysis and management workflows. Additionally, accurate classification and reporting of clinically actionable genetic mutation requires well-curated disease/application-specific knowledgebases and expertise. Moreover, lack of “out of the box” technical features in electronic health record systems necessitates custom solutions for communicating genetic information to clinicians and patients. Genomic data generated as part of clinical care easily adds great value for translational research. In this article, we discuss current and future innovative clinical bioinformatics solutions and workflows developed at our institution for effective implementation of precision genomic medicine across molecular pathology, patient care, and translational genomic research.

scholarly journals Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject

2015 ◽  
Vol 43 (3) ◽  
pp. 529-537
Author(s):  
Sarah Scollon ◽  
Katie Bergstrom ◽  
Laurence B. McCullough ◽  
Amy L. McGuire ◽  
Stephanie Gutierrez ◽  
...  
Keyword(s):  
Cancer Genetics ◽  
Recurrence Risk ◽  
Genomic Research ◽  
Return Of Results ◽  
Genetics Research ◽  
Personal Significance ◽  
Pediatric Diseases ◽  
Increased Risk ◽  
Preventive Ethics ◽  
Risk Of Cancer

In the pediatric clinical setting, the parent/guardian will almost always be the authorized representative and designated recipient of clinical and research results, making the issue of to whom results should be returned in the pediatric setting less complex than in adult settings. It is also clear that, in genomic research related to pediatric diseases such as cancer, results may be of considerable clinical, ethical, and personal significance for parents in a number of ways, including a genomic explanation of the origin of their child’s cancer, implications for the genetic testing and medical care of other siblings and of the parents themselves, and reproductive planning with regard to the recurrence risk for future children to have an increased risk of cancer. However, what remains unclear is which results should be disclosed, and under what circumstances, to parents of deceased children.

scholarly journals How do non-geneticist physicians deal with genetic tests? A qualitative analysis

2021 ◽  
Author(s):  
Laurent Pasquier ◽  
Guy Minguet ◽  
Sylvie Moisdon-Chataigner ◽  
Pascal Jarno ◽  
Philippe Denizeau ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Social Issues ◽  
Clinical Skills ◽  
Rapid Development ◽  
Genomic Medicine ◽  
Genetic Tests ◽  
Simple Fact ◽  
Medical Specialties ◽  
Management Procedure ◽  
Testing Practices

AbstractGenetic testing is accepted to be a common practice in many medical specialties. These genetic tests raise issues such as respect for basic rights, how to handle results and uncertainty and how to balance concerns for medical confidentiality with the rights of third parties. Physicians need help to deal with the rapid development of genomic medicine as most of them have received no specific training on the medical, ethical, and social issues involved. Analyzing how these professionals integrate genetic testing into the patient-provider relationship is essential to paving the way for a better use of genomics by all. We conducted a qualitative study comprising a series of focus groups with 21 neurologists and endocrinologists about their genetic testing practices in the western part of France. The interviews were transcribed and analyzed for major themes. We identified an automated care management procedure of genetic testing that affects patient autonomy. The simple fact of having a written consent cannot justify a genetic test given the stakes associated with the results. We also suggest orienting practices toward a systemic approach using a multidisciplinary team or network to provide resources for dealing with uncertainties in interpreting results or situations that require additional technical or clinical skills and, if necessary, to allow for joint consultations with both a geneticist and a non-geneticist medical specialist.

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