The Future of the Division of Human Genetics and Center for Pediatric Genomics at Cincinnati Children’s

By Louis J. Muglia, MD, PhD

The rapid developments in high-dimensional data gathering and interpretation in genetics / genomics, gene expression (RNA and protein) and metabolomics have provided a new way to leverage children, adults and populations to inform individual disease susceptibility, mechanisms of pathogenesis and optimal treatment strategies. This foundation provides the core of precision medicine. The Division of Human Genetics will provide the expertise to inform discovery and intervention across every pediatric subspecialty. We will be critical to Cincinnati Children’s for continued institutional preeminence and positioning at the front of pediatric and community health.

Accelerating Discovery

The Division of Human Genetics has a rich history of scholarship and research, and we retain several strong investigators and research programs. We will continue to oversee advances in modern genetics / genomics that are currently required for capitalizing on new research strategies that will ultimately become essential for individual care and precision medicine. To facilitate acquiring the skills and samples to drive discovery, both analytic and biobanking strategies will be developed in parallel, in close collaboration with the Center for Pediatric Genomics.

Clinical Program Excellence

As a key resource to care for children with genetic disorders, the Division of Human Genetics must provide the best services possible for initial diagnosis and ongoing management. These programs include both general genetic consultation and disease-specific teams.

Information Dissemination

Cincinnati Children’s is fortunate to have a robust Genetic Counseling Program as part of the Division of Human Genetics. These counselors will be an important resource for research and clinical care, as the return of genomic information is a rapidly changing field where best practices are still being developed along with their bioethical considerations.

The return of results is simply one information dissemination strategy. Other areas of information dissemination include visibility for unique care programs, impactful research findings and sharing of data.

Educational Programs

As a premier children’s hospital and Department of Pediatrics, we are dedicated to developing the next generation of leaders in pediatric genetics and genomics.

My vision is to establish Cincinnati Children’s as the world leader in both rare Mendelian genetic disorders and common complex diseases, as applied to pediatrics and maternal health. We accomplish this by focusing on building enhanced capacity for high-impact findings that take basic science discovery through the translational pipeline into direct patient care.