I find joy in my work as a clinical laboratory geneticist. The laboratory that I direct provides high quality clinical genetic and genomic testing for patients, their families and our physician clients. As a clinical laboratory director in the Division of Human Genetics at Cincinnati Children’s Hospital Medical Center, I collaborate with many specialists.
Our lab provides test results and insights to doctors and families making care decisions. We work together to translate discoveries into useful clinical tests.
We deliver high quality genetic and genomic testing, thanks to the expertise of our clinical laboratory teams. The group includes bioinformaticians, clinical laboratory directors, genetic counselors, genomic scientists, office support staff, physician collaborators and technologists. Our collaboration ensures the best results in an environment where science and technology are constantly updated.
The lab team also educates residents and fellows to train the next generation of genetic experts and doctors.
My family, and a post-doctoral advisor, inspired my career in genetics. My sister was mentally disabled from birth and my mother was a nurse. During my clinical chemistry fellowship at the Mayo Clinic, I worked with Stephen Thibodeau, PhD, who developed clinical molecular genetic testing in the 1980s.
I have served the clinical laboratory community at the national level. I was chair of the Pediatric Division within the American Association for Clinical Chemistry. I also served as chair of the Infectious Disease Division and chair of the Genetics Division for the Association for Molecular Pathology.
In my free time, I enjoy playing guitar and keyboards, and woodworking. What I enjoy most is spending time with my family — especially the grandchildren.
PhD: Wright State University, Dayton, OH, 1986.
Fellowship: Mayo Clinic, Rochester, MN, 1986-88.
Certification: Clinical Chemistry, 1992; Clinical Molecular Genetics, 2005 (renewed: 2015).
Genetics
Human Genetics
Implementation of CYP2D6-guided opioid therapy at Cincinnati Children's Hospital Medical Center. American Journal of Health-System Pharmacy. 2023; 80:852-859.
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Journal of Autism and Developmental Disorders. 2022; 52:4828-4842.
Understanding and interpretation of a variant of uncertain significance (VUS) genetic test result by pediatric providers who do not specialize in genetics. Journal of Genetic Counseling. 2021; 30:1559-1569.
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project. The Journal of molecular diagnostics : JMD. 2021; 23:952-958.
Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?. The Journal of Pediatrics. 2019; 213:211-217.e4.
Central Diabetes Insipidus in a Patient With NFKB2 Mutation: Expanding the Endocrine Phenotype in DAVID Syndrome. The Journal of Clinical Endocrinology and Metabolism. 2019; 104:4051-4057.