Kelly M. East
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View article: P362: Long-read genome sequencing to diagnose rare disease in a state-funded study
P362: Long-read genome sequencing to diagnose rare disease in a state-funded study Open
View article: P508: Medically-actionable disease risk variants in a diverse population
P508: Medically-actionable disease risk variants in a diverse population Open
The Alabama Genomic Health Initiative (AGHI) is a state-funded, IRB-approved study that since 2017 has pursued the goals of providing access to genomic technologies to a diverse population and exploring the utility and impact of population…
View article: P858: Optimism and pessimism about genome sequencing in pediatric health care: Preliminary findings in the BabySeq Project*
P858: Optimism and pessimism about genome sequencing in pediatric health care: Preliminary findings in the BabySeq Project* Open
Newborn genomic sequencing (NBSeq) may be implemented in parallel to, or integrated with, traditional public health newborn screening programs. NBSeq implementation will depend in part on attitudes of parents and health care professionals …
View article: P522: Personalized prescriptions: Potential clinical impact of pharmacogenetic screening
P522: Personalized prescriptions: Potential clinical impact of pharmacogenetic screening Open
Individual and organizational benefits have been described as potential outcomes of genetic screening through workplace testing programs. These conversations have thus far centered on disease-risk screening and been somewhat stunted by the…
View article: Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit Open
Background: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents’ experiences with GS as a first-line diagnostic tool for infants wit…
View article: Medical and psychosocial outcomes of state‐funded population genomic screening
Medical and psychosocial outcomes of state‐funded population genomic screening Open
As the uptake of population screening expands, assessment of medical and psychosocial outcomes is needed. Through the Alabama Genomic Health Initiative (AGHI), a state‐funded genomic research program, individuals received screening for pat…
View article: 338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care
338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care Open
OBJECTIVES/GOALS: Supported by the State of Alabama, the Alabama Genomic Health Initiative (AGHI) is aimed at preventing and treating common conditions with a genetic basis. This joint UAB Medicine-HudsonAlpha Institute for Biotechnology e…
View article: Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?
Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk? Open
Content This study examines the potential utility of genetic testing as a supplement to family health history to screen for increased risk of inherited disease. Medical conditions are often misreported or misunderstood, especially those re…
View article: P392: Genomic medicine and primary care: The Alabama Genomic Health Initiative*
P392: Genomic medicine and primary care: The Alabama Genomic Health Initiative* Open
View article: Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting
Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting Open
To meet current and expected future demand for genome sequencing in the neonatal intensive care unit (NICU), adjustments to traditional service delivery models are necessary. Effective programs for the training of non-genetics providers (N…
View article: eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative
eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative Open
View article: eP425: Parental impact of genome sequencing during the neonatal period
eP425: Parental impact of genome sequencing during the neonatal period Open
View article: Genome sequencing as a first-line diagnostic test for hospitalized infants
Genome sequencing as a first-line diagnostic test for hospitalized infants Open
View article: Genome sequencing as a first-line diagnostic test for hospitalized newborns
Genome sequencing as a first-line diagnostic test for hospitalized newborns Open
Purpose SouthSeq, a translational research study to perform genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder, was conducted in NICUs in the Southeastern US. Recruitment targeted racial/ethnic minorities and…
View article: Characteristics and experiences of patients from a community-based and consumer-directed hereditary cancer population screening initiative
Characteristics and experiences of patients from a community-based and consumer-directed hereditary cancer population screening initiative Open
A clinical hereditary cancer population screening initiative, called Information is Power, began in North Alabama in 2015. After 4 years of the initiative, we were interested in exploring (1) the characteristics and motivations for patient…
View article: A study of elective genome sequencing and pharmacogenetic testing in an unselected population
A study of elective genome sequencing and pharmacogenetic testing in an unselected population Open
Background Genome sequencing (GS) of individuals without a medical indication, known as elective GS, is now available at a number of centers around the United States. Here we report the results of elective GS and pharmacogenetic panel test…
View article: The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life Open
Background: The desire of parents to obtain a genetic diagnosis for their child with intellectual disability and associated symptoms has long been framed as a diagnostic odyssey, an arduous and sometimes perilous journey focused on …
View article: A review and definition of ‘usual care’ in genetic counseling trials to standardize use in research
A review and definition of ‘usual care’ in genetic counseling trials to standardize use in research Open
The descriptor ‘usual care’ refers to standard or routine care. Yet, no formal definition exists. The need to define what constitutes usual care arises in clinical research. Often one arm in a trial represents usual care in comparison with…
View article: A state-based approach to genomics for rare disease and population screening
A state-based approach to genomics for rare disease and population screening Open
View article: Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls Open
View article: Identifying rare, medically-relevant genetic variation in a diverse population: opportunities and pitfalls
Identifying rare, medically-relevant genetic variation in a diverse population: opportunities and pitfalls Open
Purpose To evaluate the effectiveness and specificity of population-based genomic screening in Alabama. Methods The Alabama Genomic Health Initiative (AGHI) has enrolled and evaluated 5,369 participants for the presence of pathogenic/likel…
View article: Lessons learned about harmonizing survey measures for the CSER consortium
Lessons learned about harmonizing survey measures for the CSER consortium Open
Introduction: Implementation of genome-scale sequencing in clinical care has significant challenges: the technology is highly dimensional with many kinds of potential results, results interpretation and delivery require expertise and coord…
View article: Recruiting diversity where it exists: The Alabama Genomic Health Initiative
Recruiting diversity where it exists: The Alabama Genomic Health Initiative Open
Lack of diversity among genomic research participants results in disparities in benefits from genetic testing. To address this, the Alabama Genomic Health Initiative employed community engagement strategies to recruit diverse populations w…
View article: Return of raw data in genomic testing and research: ownership, partnership, and risk–benefit
Return of raw data in genomic testing and research: ownership, partnership, and risk–benefit Open
View article: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study Open
View article: The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations Open
View article: Genomic sequencing identifies secondary findings in a cohort of parent study participants
Genomic sequencing identifies secondary findings in a cohort of parent study participants Open
View article: Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium
Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium Open
Clinical and research settings are increasingly incorporating genomic sequencing (GS) technologies. Previous research has explored reasons for declining genetic testing and participation in genetic studies; however, there is a dearth of li…
View article: Genomic sequencing identifies secondary findings in a cohort of parent study participants
Genomic sequencing identifies secondary findings in a cohort of parent study participants Open
PURPOSE Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability. METHODS Exome/genome sequencing and analysis of 789 ‘unaffected’ parents was performed. R…
View article: Genomic diagnosis for children with intellectual disability and/or developmental delay
Genomic diagnosis for children with intellectual disability and/or developmental delay Open