Pediatric Genomics Discovery Program
What is the Pediatric Genomics Discovery Program ?
All parents want their children to be happy and healthy. When a child faces medical challenges with no clear cause, it’s understandable to feel frustrated and anxious. At the Pediatric Genomics Discovery Program (PGDP) we work with families to learn about the genetic basis for a child’s health problems. Our goal is to provide a diagnosis whenever possible, help you understand what it means to your child’s health, and provide guidance for the future.
What makes the PGDP unique?
Great strides have been made in the field of human genomics, but much is yet to be discovered. Making a clear diagnosis for a child’s condition can be a challenge and many of our patients have already seen multiple specialists. What makes PGDP unique is our ability to bring together the collaborative expertise of doctors and scientific researchers. Not only do we diagnose known genetic diseases, we are also highly focused on identifying new, previously unknown genetic conditions.
What can I expect during my visit?
We strongly recommend that both parents, together, attend a child’s first PGDP visit. At your first appointment, our clinical team will conduct a thorough evaluation, including a review of all prior lab tests and studies. We’ll then work with you to design a personalized Discovery Plan to learn more about your child’s condition.
Sometimes comprehensive testing brings a firm diagnosis. In other cases where we still don’t have a diagnosis, children and families may be eligible for research studies that discover new causes. Our team works together to explore options and identify the best approach for each child and family.
Please note: participation in research studies is purely voluntary and is not required under any circumstances.