Stories about: Amy Roberts

Clinical genetics 101: When to refer


Pediatric genetics is a clinical specialty focused on the evaluation and management of children with genetic conditions. Genetic conditions can either be inherited from parents or arise from a new genetic change occurring during fetal development. Conditions vary widely and can affect any organ system of the body. Some diagnoses cause minimal impact on a child’s daily life, while others lead to complex medical needs. Given the breadth of genetic diagnoses, deciding when to refer a child to a genetics clinic can be a challenge.

Several resources outline specific reasons to refer patients to medical genetics. A clear guide written by geneticists and counselors from the American College of Medical Genetics organizes indications by patient age. Building on previously published guidelines, we highlight five practical reasons for referral for genetics evaluation. …Read More