Publications by authors named "Rowley R"
Article Synopsis
- Polygenic risk scores (PRSs) could enhance disease risk prediction, but their current effectiveness is compromised for non-European populations, creating potential health disparities.
- The PRIMED Consortium aims to improve PRS performance by aggregating diverse genetic data on a cloud platform and evaluating ethical implications related to its implementation.
- Focused on cardiometabolic diseases and cancer, PRIMED seeks to promote equity in polygenic risk assessment through collaboration across multiple research sites and organizations.
Objective: Data from DNA genotyping via a 96-SNP panel in a study of 25,015 clinical samples were utilized for quality control and tracking of sample identity in a clinical sequencing network. The study aimed to demonstrate the value of both the precise SNP tracking and the utility of the panel for predicting the sex-by-genotype of the participants, to identify possible sample mix-ups.
Results: Precise SNP tracking showed no sample swap errors within the clinical testing laboratories.
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.
View Article and Find Full Text PDFIntroduction: Phenotyping algorithms enable the interpretation of complex health data and definition of clinically relevant phenotypes; they have become crucial in biomedical research. However, the lack of standardization and transparency inhibits the cross-comparison of findings among different studies, limits large scale meta-analyses, confuses the research community, and prevents the reuse of algorithms, which results in duplication of efforts and the waste of valuable resources.
Recommendations: Here, we propose five independent fundamental dimensions of phenotyping algorithms-complexity, performance, efficiency, implementability, and maintenance-through which researchers can describe, measure, and deploy any algorithms efficiently and effectively.
Article Synopsis
- Clostridioides difficile infection (CDI) is a major cause of diarrhea in hospitals across North America and Europe, leading to significant health risks.
- Previous risk factors don't fully explain why some people get CDI while others don't, suggesting a genetic component to susceptibility.
- A study involving nearly 20,000 participants found that variations in the DRB locus of the MHC (HLA) II region may increase the likelihood of developing CDI, indicating that genetic factors could influence how the body responds to this infection.
Article Synopsis
- * In a study involving 16,218 adults, those with actionable genetic findings underwent significantly more healthcare services in the year following result disclosure compared to before and to those without such findings.
- * The annual healthcare costs for individuals with pathogenic findings nearly doubled, increasing from an average of $162 to $343, indicating a notable financial impact on healthcare payors.
Objective: Data from DNA genotyping via a 96-SNP panel in a study of 25,015 clinical samples were utilized for quality control and tracking of sample identity in a clinical sequencing network. The study aimed to demonstrate the value of both the precise SNP tracking and the utility of the panel for predicting the sex-by-genotype of the participants, to identify possible sample mix-ups.
Results: Precise SNP tracking showed no sample swap errors within the clinical testing laboratories.
Despite the increasing numbers of genetic assistants (GAs) in the genomics workforce, their training needs and how to best prepare GAs for their role have not been well defined. We sought to identify the current educational status of GAs, opinions on their training needs, and attitudes about GA training programs (GATPs). Survey links were emailed to NSGC members, 17 state genetic counseling (GC) professional organizations, and genomic medicine researchers.
View Article and Find Full Text PDFArticle Synopsis
- - The text discusses the advancements in polygenic risk scores (PRS) and their potential to enhance clinical practice, but highlights challenges in effectiveness across diverse populations, which can worsen health disparities.
- - A project funded by NHGRI called the eMERGE Network is evaluating PRS for 23 health conditions in 25,000 individuals from different backgrounds, focusing on actionable findings and relevant evidence for African and Hispanic populations.
- - The study identified ten key health conditions for PRS assessment (like breast cancer and diabetes), and established a framework for implementing PRS in clinical settings, ensuring compliance and reliability across different genetic ancestries.
Background: The implications of secondary findings detected in large-scale sequencing projects remain uncertain. We assessed prevalence and penetrance of pathogenic familial hypercholesterolemia (FH) variants, their association with coronary heart disease (CHD), and 1-year outcomes following return of results in phase III of the electronic medical records and genomics network.
Methods: Adult participants (n=18 544) at 7 sites were enrolled in a prospective cohort study to assess the clinical impact of returning results from targeted sequencing of 68 actionable genes, including , , and .
Article Synopsis
- The study aims to assess the risk of common diseases by considering clinical, monogenic, and polygenic factors, which may be reflected in an individual's family history.
- The eMERGE network is enrolling 25,000 individuals in a prospective study to create and return a comprehensive risk assessment report (GIRA) that includes various genetic risk factors and care recommendations.
- The GIRA report provides actionable guidelines for health care based on genetic data, highlighting the importance of integrating genetic risk assessment into routine health care practices.
Article Synopsis
- The fields of genetics and genomics have advanced in medicine due to new technologies that highlight genetic factors in various traits and diseases.
- There is a growing need for accessible educational resources for healthcare providers to effectively use genetics and genomics in patient care.
- In 2020, the National Human Genome Research Institute sought proposals to create online educational modules, and this paper discusses the efforts of six teams awarded for this initiative.
Objective: The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings.
Materials And Methods: Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals.
Article Synopsis
- Researchers developed multiple polygenic risk scores (PRSs) for breast cancer but their applicability to diverse populations is still uncertain.
- This study analyzed the effectiveness of these PRSs in a clinical setting, focusing on women of European, African, and Latinx ancestry using data from 39,591 women linked to electronic medical records.
- Results showed that PRSs were significantly associated with breast cancer risk across all ancestry groups, with the strongest correlation found in women of European ancestry, indicating the potential usefulness of PRSs for risk assessment in diverse populations.
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation of disease risk using genetics. However, there is notable heterogeneity in the application and reporting of these risk scores, which hinders the translation of PRSs into clinical care. Here, in a collaboration between the Clinical Genome Resource (ClinGen) Complex Disease Working Group and the Polygenic Score (PGS) Catalog, we present the Polygenic Risk Score Reporting Standards (PRS-RS), in which we update the Genetic Risk Prediction Studies (GRIPS) Statement to reflect the present state of the field.
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