A5071285054- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Prenatal Screening and Diagnostics
- Ethics in Clinical Research
- BRCA gene mutations in cancer
- Metabolism and Genetic Disorders
- Health Systems, Economic Evaluations, Quality of Life
- Pharmaceutical studies and practices
- COVID-19 epidemiological studies
- Biomedical Ethics and Regulation
- RNA modifications and cancer
- Disaster Response and Management
- Biotechnology and Related Fields
- Genetic factors in colorectal cancer
- Healthcare Policy and Management
- Scientific Computing and Data Management
- Research Data Management Practices
- Biomedical Text Mining and Ontologies
- Viral Infections and Outbreaks Research
University of California, San Francisco
2017-2023
Harvard University
2023
The rapid development of genomic sequencing technologies has decreased the cost genetic analysis to extent that it seems plausible genome-scale could have widespread availability in pediatric care. Genomic provides a powerful diagnostic modality for patients who manifest symptoms monogenic disease and an opportunity detect health conditions before their development. However, many technical, clinical, ethical, societal challenges should be addressed such technology is widely deployed...
The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We the ES a cohort predominantly US URM pediatric prenatal patients suspected to have genetic disorder. Eligible had multiple congenital anomalies and/or neurocognitive disabilities one or more structural anomalies, disorders fetal growth, effusions. were prioritized for enrollment underwent at single...
Abstract Many scientists and doctors hope that affordable genome sequencing will lead to more personalized medical care improve public health in ways benefit children, families, society broadly. One particular is all newborns could be sequenced at birth, thereby setting the stage for a lifetime of self‐directed preventive actions tailored each child's genome. Indeed, commentators often suggest universal inevitable. Such optimism can come with presumption discussing potential limits, cost,...
The potential application of whole-genome sequencing (WGS) to state-mandated standard newborn screening (NBS) challenges the traditional public health approach NBS and raises ethical, policy, clinical practice issues. This article examines perspectives values diverse healthy pregnant women parents children diagnosed with a primary immunodeficiency disorder about expanded use WGS.We conducted 4 focus groups (3 in English 1 Spanish) socioeconomically ethnically (n = 26), comparison group...
Ensuring equitable access to health care is a widely agreed-upon goal in medicine, yet multidimensional concept that difficult measure. Although frameworks exist evaluate generally, the of "access genomic medicine" largely unexplored and clear framework for studying addressing major dimensions lacking.
Newborn screening (NBS) for rare conditions is performed in all 50 states the USA. We have partnered with California Department of Public Health Genetic Disease Laboratory to determine whether sufficient DNA can be extracted from archived dried blood spots (DBS) next-generation sequencing hopes that play a role NBS. optimized extraction and library preparation protocols residual infant DBS over 20 years ago successfully obtained acceptable whole exome genome data. This study using without...
We aimed to determine the frequency of accepting secondary findings in families undergoing exome sequencing prenatal and pediatric settings.
Integrating data across heterogeneous research environments is a key challenge in multi-site, collaborative projects. While it important to allow for natural variation collection protocols sites, also achieve interoperability between datasets order reap the full benefits of work. However, there are few standards guide coordination process from project conception completion. In this paper, we describe experiences Clinical Sequence Evidence-Generating Research (CSER) consortium Data...
Throughout the COVID-19 pandemic, US has struggled with many aspects of public health response, from determining where transmission is occurring to building trust communities and implementing interventions. Three factors have contributed these challenges: insufficient local capacity, siloed interventions, underuse a cluster-based approach outbreak response. In this article we introduce Community-based Outbreak Investigation Response (COIR), strategy developed during pandemic that addresses...
ABSTRACT The National Institutes of Health (NIH) funded the N ewborn S equencing I n G enomic medicine and public H eal T h (NSIGHT) Consortium to investigate implications, challenges opportunities associated with possible use genomic sequence information in newborn period. Following announcement NSIGHT awardees 2013, Food Drug Administration (FDA) contacted investigators requested that pre-submissions investigational device exemptions (IDE) be submitted for sequencing under Title 21 Code...