Sharon Aufox
A5008551755- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Ethics in Clinical Research
- Cancer Genomics and Diagnostics
- Bariatric Surgery and Outcomes
- Health Systems, Economic Evaluations, Quality of Life
- Prenatal Screening and Diagnostics
- Genetic Neurodegenerative Diseases
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Obesity and Health Practices
- Patient Dignity and Privacy
- Biomedical Ethics and Regulation
- Autism Spectrum Disorder Research
- LGBTQ Health, Identity, and Policy
- Machine Learning in Healthcare
- Genomic variations and chromosomal abnormalities
- Ovarian cancer diagnosis and treatment
- Cardiovascular Disease and Adiposity
- Body Contouring and Surgery
- Fetal and Pediatric Neurological Disorders
- Time Series Analysis and Forecasting
- Parvovirus B19 Infection Studies
- Cystic Fibrosis Research Advances
- Ethics in medical practice
Northwestern University
2014-2024
Cincinnati Children's Hospital Medical Center
2022
Children's Hospital of Philadelphia
2022
Children's Hospital & Medical Center
2022
Boston Children's Hospital
2022
Wake Forest University
2000
Albert Einstein College of Medicine
1996
Montefiore Medical Center
1996
Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr and p.His63Asp. Recommendations on returning incidental findings of variants individuals undergoing genome-scale sequencing should be informed by penetrance estimates HH unselected samples. We used the eMERGE Network, multicenter cohort genotype data linked to electronic medical records, estimate diagnostic rate clinical 98 homozygous...
We examined the Institutional Review Board (IRB) process at 9 academic institutions in electronic Medical Records and Genomics (eMERGE) Network, for proposed health record-based genomic medicine studies, to identify common questions concerns. Sequencing of 109 disease related genes genotyping 14 actionable variants is being performed ~28,100 participants from sites. Pathogenic/likely pathogenic are returned study participants. each site's research protocols, informed-consent materials,...
A goal of the 3rd phase Electronic Medical Records and Genomics (eMERGE3) Network was to examine return results (RoR) actionable variants in more than 100 genes consenting participants their healthcare providers. Each 10 eMERGE sites developed plans for three essential elements RoR process: Disclosure participant, notification health care provider, integration into electronic record (EHR). Procedures protocols around these were adapted as appropriate individual site requirements limitations....
To assess the clinical implementation of non-invasive prenatal testing (NIPT) among maternal-fetal medicine (MFM) specialists.Practicing MFMs were invited by email to complete questionnaires via SurveyMonkey©.Of 278 respondents, 56% male, 48% practiced in academic centers, and 94% currently offer NIPT. NIPT is most often being offered 'to specific patients meeting certain criteria' (59.2%), for indications advanced maternal age (87.5%), abnormal screen results (94.9%), ultrasound findings...
Background: The factors influencing parents' willingness to enroll their children in biobanks are poorly understood. This study sought assess children, and perceived benefits, concerns, information needs under different consent data-sharing scenarios, identify associated with willingness. Methods: large, experimental survey of patients at the 11 eMERGE Network sites used a disproportionate stratified sampling scheme enrich sample historically underrepresented groups. Participants were...
Abstract Increasing interest and pursuit of genetic testing by the general public have raised concerns about their understanding use results. While most research has focused on individuals receiving positive test results, there been limited investigations assessing utility negative Individuals who receive a (or uninformative) result may not appreciate limitations residual disease risk. The goals this study were to explore participant perceived non‐diagnostic We conducted semi‐structured...
Abstract Objective Data from DNA genotyping via a 96-SNP panel in study of 25,015 clinical samples were utilized for quality control and tracking sample identity sequencing network. The aimed to demonstrate the value both precise SNP utility predicting sex-by-genotype participants, identify possible mix-ups. Results Precise showed no swap errors within testing laboratories. In contrast, when comparing predicted provided sex on test requisition, we identified 110 inconsistencies (0.44%), that...
We used electronic health record data from 162 patients enrolled in the NUgene Project (2002–2013) to determine demographic factors associated with long-term (from 1 up 9.5 (mean = 5.6) years) weight loss following Roux-en-Y gastric bypass surgery. Ninety-nine (61.1%) self-reported white, and 63 (38.9%) black, mixed, or missing race. The average percent was −33.4% (standard deviation, 9.3) at year after surgery −30.7% 12.5) last follow-up point. linear mixed semiparametric trajectory models...
A challenge in returning genomic test results to research participants is how best communicate complex and clinically nuanced findings a manner that scalable the large numbers of enrolled. The purpose this study was examine features genetic letters produced at each Electronic Medical Records Genomics (eMERGE3) Network site assess their readability content. Letters were collected from site, qualitative analysis letter content quantitative statistics performed. Because independently eMERGE...
Summary Background: Height is a critical variable for many biomedical analyses because it an important component of Body Mass Index (BMI). Transforming EHR height measures into meaningful research-ready values challenging and there limited information available on methods “cleaning” these data. Objectives: We sought to develop algorithm clean adult data extracted from using only associated ages. Results: The we developed sensitive normal decreases in with aging, implemented open-source...
As biobanks play an increasing role in the genomic research that will lead to precision medicine, input from diverse and large populations of patients a variety health care settings be important order successfully carry out such studies. One topic is participants' views towards consent data sharing, especially since 2011 Advanced Notice Proposed Rulemaking (ANPRM), subsequently 2015 (NPRM) were issued by Department Health Human Services (HHS) Office Science Technology Policy (OSTP). These...
Expanded carrier screening (ECS) assesses the risk of individuals and couples having a child affected with set genetic conditions. Carriers have options available to optimize pregnancy outcomes based on personal values preferences. The greatest range is prior pregnancy, therefore professional societies recommend this be performed preconception. This study aimed assess awareness of, interest in, ECS in women Additionally, it evaluate preferences for timing location education availability...