Kelly E. Ormond
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View article: Evaluating GPT-4’s ability to generate informed consent material for genetic testing
Evaluating GPT-4’s ability to generate informed consent material for genetic testing Open
The informed consent (IC) process is essential in genetic testing, yet IC materials are often difficult to read and understand, influencing patients’ decision-making. Large language models may improve the accessibility and clarity of these…
View article: Perspectives on the FDA platform technology designation program for the approval of gene therapies: a Swiss multi-stakeholder exploratory interview study
Perspectives on the FDA platform technology designation program for the approval of gene therapies: a Swiss multi-stakeholder exploratory interview study Open
Background The U.S. Food and Drug Administration (FDA)’s platform technology designation program aims to streamline the development and approval process for advanced therapy medicinal products and is anticipated to be particularly benefici…
View article: Views of the Swiss public towards gene editing
Views of the Swiss public towards gene editing Open
There is little country-specific data about how the general public views gene editing therapies. In Autumn 2023 we randomly surveyed the Swiss public, using the Federal Register and stratifying by language region (German, French, Italian),…
View article: Developing global consensus about core knowledge and skills for genetic counselor education
Developing global consensus about core knowledge and skills for genetic counselor education Open
There are over 130 genetic counselor (GC) training programs documented in more than 30 countries. Some regions also have developed practice‐based competencies and guidelines for accrediting GC training, often including lists of required cu…
View article: Equity in newborn sequencing: a capability approach perspective
Equity in newborn sequencing: a capability approach perspective Open
Definition of the problem Newborn sequencing (NBSeq) offers the potential to detect hundreds of genetic conditions from infancy. On this basis, some consider NBSeq to be a revolutionizing equalizer, promising access to genomic testing for …
View article: Building Better Medicine: Translational Justice and the Quest for Equity in US Healthcare
Building Better Medicine: Translational Justice and the Quest for Equity in US Healthcare Open
Despite considerable scientific progress and the evolution of regulatory pathways to ensure safety and efficacy, US healthcare continues to see increasing health disparities. This suggests that clinical translation in of itself cannot be t…
View article: Newborn Sequencing: The Promise and Perils
Newborn Sequencing: The Promise and Perils Open
Newborn screening for phenylketonuria began in the United States in the early 1960s, and it expanded one disease at a time until the development of tandem mass spectrometry. This technology allowed for screening many conditions simultaneou…
View article: Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream
Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream Open
Introduction Children represent a large and vulnerable patient group. However, the evidence base for most paediatric diagnostic and therapeutic procedures remains limited or is often inferred from adults. There is an urgency to improve pae…
View article: Grounded in Reality: Integrating Community Values and Priorities of End Users in Human Gene Editing
Grounded in Reality: Integrating Community Values and Priorities of End Users in Human Gene Editing Open
sponsorship: National Human Genome Research Institute|R01 HG011461
View article: Paediatric Personalized Research Network Switzerland (SwissPedHealth): A Joint Paediatric National Data Stream
Paediatric Personalized Research Network Switzerland (SwissPedHealth): A Joint Paediatric National Data Stream Open
Introduction Children represent a large and vulnerable patient group. However, the evidence-base for most paediatric diagnostic and therapeutic procedures remains limited or is often inferred from adults. There is urgency to improve paedia…
View article: Researcher Views on Multi-omics Return of Results to Research Participants: Insights from the Molecular Transducers of Physical Activity Consortium (MoTrPAC) Study
Researcher Views on Multi-omics Return of Results to Research Participants: Insights from the Molecular Transducers of Physical Activity Consortium (MoTrPAC) Study Open
Background There is growing consensus in favor of returning individual specific research results that are clinically actionable, valid, and reliable. However, deciding what and how research results should be returned remains a considerable…
View article: Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review Open
Background The diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis has a lasting impact …
View article: What are the bottlenecks to health data sharing in Switzerland? An interview study
What are the bottlenecks to health data sharing in Switzerland? An interview study Open
BACKGROUND: While health data sharing for research purposes is strongly supported in principle, it can be challenging to implement in practice. Little is known about the actual bottlenecks to health data sharing in Switzerland. AIMS OF THE…
View article: How Do Molecular Systems Engineering Scientists Frame the Ethics of Their Research?
How Do Molecular Systems Engineering Scientists Frame the Ethics of Their Research? Open
Molecular systems engineering scientists currently focus on regulatory aspects as the framework for their ethical analyses. They describe using a framework to define when life arises, as a means to determine when further ethical engagement…
View article: Realizing the promise of machine learning in precision oncology:expert perspectives on opportunities and challenges
Realizing the promise of machine learning in precision oncology:expert perspectives on opportunities and challenges Open
The application of machine learning in precision oncology is an emerging field. To capture the status quo, challenges, opportunities, ethical implications, and future directions, we conducted semi-structured interviews with academic and cl…
View article: The right not to know: Non‐disclosure of primary genetic test results and genetic counselors' response
The right not to know: Non‐disclosure of primary genetic test results and genetic counselors' response Open
As part of clinical genetic counseling practice, patients may request that their primary genetic test results be disclosed to someone else, such as a relative or referring provider, or request that results be disclosed to no one (non‐discl…
View article: Exploring prenatal testing preferences among <scp>US</scp> pregnant individuals: A discrete choice experiment
Exploring prenatal testing preferences among <span>US</span> pregnant individuals: A discrete choice experiment Open
Although there are numerous benefits to diagnostic prenatal testing, such as fetal exome sequencing, there are also consequences, including the possibility of receiving variants of uncertain significance or identifying secondary findings. …
View article: Translational Justice in Human Gene Editing: Bringing End User Engagement and Policy Together
Translational Justice in Human Gene Editing: Bringing End User Engagement and Policy Together Open
Click to increase image sizeClick to decrease image sizeThis article refers to:The Promise and Reality of Public Engagement in the Governance of Human Genome Editing Research Additional informationFundingThis study was funded by National H…
View article: International genetic counseling: What do genetic counselors actually do?
International genetic counseling: What do genetic counselors actually do? Open
We conducted an exploratory survey of genetic counselors internationally to assess similarities and differences in reported practice activities. Between November 2018 and January 2020 we conducted a mass emailing to an estimated 5600 genet…
View article: Talking Ethics Early in Health Data Public Private Partnerships
Talking Ethics Early in Health Data Public Private Partnerships Open
Data access and data sharing are vital to advance medicine. A growing number of public private partnerships are set up to facilitate data access and sharing, as private and public actors possess highly complementary health data sets and tr…