My research focuses on the application of genomic information and associated tools that can lead to improved health outcomes. I have worked in research for more than 20 years and began working at Cincinnati Children’s in 2006. Research-based genetic counseling is one area in which I am particularly interested. Genetic counseling can help people understand and adapt to the psychological, medical and familial implications of inherited diseases and conditions that might affect them or their families.
Changing clinical recommendations suggest that every time genome or exome sequencing is performed, patients should have the option to learn a specific set of secondary genomic results, regardless of the indication for testing. In pediatric settings, this includes conveying some genomic information about risk for conditions that can occur in adulthood or that may present a risk to future children. Historically, patients waited until they reached the age of 18 to learn about this information.
My recent research focuses on patients, providers and consumer-facing applications of genomic sequencing information. I am particularly interested in adolescents’ and young adults’ perspectives and decisions about learning genomic information. While adolescents provide consent to participate in research and to undergo genetic testing, their views about receiving such information and how they want to go about making decisions about research and genetic testing represent a gap in the literature. We have learned that adolescents do not always want to know all secondary genomic results, want to be involved in the decision-making process, and often make different decisions than their parents.
I have been in public health over the years and have served on various committees and teams. I have worked with the National Center of Birth Defects and Developmental Disabilities and the Office of Genomics and Disease Prevention at the Centers for Disease Control (CDC). As an epidemic intelligence service (EIS) officer, I participated in several outbreak response teams, including:
I am also an educator. A large part of what I do is train genetic counseling students in the Genetic Counseling Graduate Program.
MS: Genetic Counseling, The University of Cincinnati, Cincinnati, OH, 1990-1992.
PhD: The Johns Hopkins School of Hygiene and Public Health, Baltimore, MD, 1995-2000.
Fellowship: Epidemic Intelligence Service Officer, Centers for Disease Control and Prevention, 2000-2002.
Certification: Genetic Counseling, 1993.
Evaluating family health history as a health promotion and disease prevention tool; direct-to-consumer marketing of genetic testing; and outcomes research in genetic counseling
Developing video education materials for the return of genomic test results to parents and adolescents. 2022; 1.
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. Journal of Personalized Medicine. 2022; 12.
The Reckoning: The Return of Genomic Results to 1444 Participants Across the eMERGE3 Network. Obstetrical and Gynecological Survey. 2022; 77:644-647.
A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening. International Journal of Neonatal Screening. 2022; 8.
Experiences of adolescents and their parents after receiving adolescents' genomic screening results. Journal of Genetic Counseling. 2022; 31:608-619.
Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network. Genetics in Medicine. 2022; 24:1297-1305.
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.
A report of the AGCPD task force to evaluate associations between select admissions requirements, demographics, and performance on ABGC certification examination. Journal of Genetic Counseling. 2022; 31:302-315.
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates. Genetics in Medicine. 2022; 24:454-462.