Diagnosing kids using family medical history or genetic testing, or both
Most days being a pediatrician also means being a puzzle solver. While the puzzle pieces usually come together with an exam of the child, conversations with parents and caregivers, and possibly some blood tests or other screenings, sometimes pieces are missing, and questions remain about what is at the root of the health concern for the child. Consulting a genetic counselor might unlock answers and solutions to solving the puzzle and also provide comfort and perspective about what it all means for concerned families.
In the Talking Pediatrics episode, “Crack the Case: Where Family History is Always “Pertinent”…Inheritance Pearls from a Genetics Counselor,” guest host Dr. Bryan Fate, general pediatrician, and Dinel Pond, lead genetic counselor at Children’s Minnesota, discuss three cases that presented in the Minneapolis clinic, getting a comprehensive and useful family history, and tips to navigate (and explain) genetic testing with families. Pond works in the genetics clinic, pharmacogenomics clinic, and cancer and blood disorders clinic, helping evaluate and counsel children and families with known or suspected genetic disorders.