I began my nursing career on a unit providing care to children and young adults. Many of my patients had inherited, chronic illnesses, such as cystic fibrosis. I was able to take advantage of early genetics training, provided through what is now known as Developmental and Behavioral Pediatrics, to combine nursing with my favorite area of science.
Now, I work to improve the lives of children and adults with genetic diseases. My research includes genomics education, pharmacogenetics and implementation of genomics research into pediatric clinical practice.
Throughout my career as a genetics clinical nurse specialist, I have focused on the translation of genetic and genomic information and technology into clinical practice. I began my role as a clinical nurse specialist in genetics in 1990, which coincided with the official launch of the Human Genomics Project (HGP). I began developing externally funded genetics education programs for other nurses after recognizing that many nurses had only limited knowledge in genetics.
Consistent with my overarching career goal, I was part of the development team for Cincinnati Children’s Hospital Medical Center’s Genetic Pharmacology Service that launched in 2004. Since then, I have led and contributed to multiple studies demonstrating the association of gene variations and unintended drug responses, such as limited drug effectiveness and increased risk of adverse drug side effects.
When Phase II of the electronic Medical Records and Genomics (eMERGE) Network began to focus on genomics implementation, I became a key investigator in Cincinnati Children’s eMERGE project. The project required the return of genomics research results to participants during a time when such return was controversial.
In Phase II of the project, we studied parents’ responses after learning their children’s pharmacogenetics result for codeine. In Phase III, we offered adolescents choices about the results they wanted to learn from the eMERGE sequencing panel. The panel included 84 returnable genes, including those that inform risk for adult onset disorders.
Currently, we are collecting follow-up data to understand adolescents’ and parents’ responses to learning negative and positive sequencing results. Phase IV will focus on calculating and returning genomic risk assessments, including polygenic risk scores, for up to 15 eMERGE Network-selected diseases to African American mothers and their newborns.
I have received several honors and awards, including:
Genetics, Genetic Pharmacology, 22Q-VCFS, Speech-Language Pathology
Young adults' reasoning for involving a parent in a genomic decision-making research study. Journal of Genetic Counseling. 2024; 33:653-665.
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature Medicine. 2024; 30:480-487.
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. The American Journal of Human Genetics. 2023; 110:1950-1958.
Current Practices in Pharmacogenomics. Pediatric Clinics of North America. 2023; 70:995-1011.
Adolescent Decision-Making Involvement in the Receipt of Genomic Testing Results. The Journal of Pediatrics. 2023; 259:113492.
Studying the impact of translational genomic research: Lessons from eMERGE. The American Journal of Human Genetics. 2023; 110:1021-1033.
Implementation of CYP2D6-guided opioid therapy at Cincinnati Children's Hospital Medical Center. American Journal of Health-System Pharmacy. 2023; 80:852-859.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American Journal of Medical Genetics, Part A. 2023; 191:1227-1239.
Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genetics in Medicine. 2023; 25:100006.
P695: Adolescents’ state anxiety and decisional regret one week after learning carrier results for autosomal recessive disorders. 2023; 1:100767.
Patient Ratings and Comments
All patient satisfaction ratings and comments are submitted by actual patients and verified by a leading independent patient satisfaction company, NRC Health. Patient identities are withheld to ensure confidentiality and privacy. Only those providers whose satisfaction surveys are administered through Cincinnati Children’s Hospital Medical Center are displayed. Click here to learn more about our survey