New Resource for Families: Understanding Genetic and Clinical Diagnoses

We are excited to share a new family-friendly resource created by the Simons Searchlight genetic counseling team: A Family Guide: Understanding Genetic and Clinical Diagnoses.

When a child receives a diagnosis, whether related to development, autism, epilepsy, or a rare genetic condition, it’s natural for families to have questions. Many parents wonder:

• Is this medical issue caused by my child’s genetic variant?
• Does a genetic diagnosis explain everything about their health?
• Why do symptoms differ so much between people with the same genetic change?
• If a genetic condition caused it, does my child still “have” autism?

This new guide helps families understand the difference between a genetic diagnosis and a clinical diagnosis, how the two work together, and why both are important in care and research. It includes clear explanations, real-world examples, and answers to common questions—designed to support families at any stage of their diagnostic journey.

👉 Access the full guide here

We hope this resource brings clarity, confidence, and support as families navigate the path forward.