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, Craniofacial Disorders, Genetic Pharmacology, 22Q-VCFS, Speech-Language Pathology
Developing video education materials for the return of genomic test results to parents and adolescents. 2022; 1.
Association of CYP2D6 genotype predicted phenotypes with oxycodone requirements and side effects in children undergoing surgery. Annals of Translational Medicine. 2022; 10.
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. Journal of Personalized Medicine. 2022; 12.
Multiancestral polygenic risk score for pediatric asthma. Journal of Allergy and Clinical Immunology. 2022; 150:1086-1096.
The Reckoning: The Return of Genomic Results to 1444 Participants Across the eMERGE3 Network. Obstetrical and Gynecological Survey. 2022; 77:644-647.
A retrospective examination of adjunctive L-methylfolate in children and adolescents with unipolar depression. Journal of Affective Disorders. 2022; 312:315-321.
Experiences of adolescents and their parents after receiving adolescents' genomic screening results. Journal of Genetic Counseling. 2022; 31:608-619.
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Genetics in Medicine. 2022; 24:1130-1138.
Do research participants share genomic screening results with family members?. Journal of Genetic Counseling. 2022; 31:447-458.
Influence of CYP2D6 metabolizer status on ondansetron efficacy in pediatric patients undergoing hematopoietic stem cell transplantation: A case series. Clinical and Translational Science. 2022; 15:610-618.
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