For Families

It’s our profound joy and privilege to help families access personalized patient care. A diagnosis isn’t the end of the story. It’s the beginning of hope.”

– Stephen Kingsmore

Precision Medicine Programs for Families

Group shot of Dr. Friedman with Rylee's familiy

Rady Children’s is committed to helping families with rare disease by helping them navigate their healthcare journey. Too often, patient families with rare disease face a lengthy, uncoordinated odyssey. The Precision Medicine Clinic aims to end the odyssey and bridge the gaps from diagnosis to treatment.

 Identifying Rare Disease: Genetic testing is used to precisely diagnose patients.

  • Family Risk Management: Cascade testing can help identify family members who may be at risk of passing on the disease.
  •  Education: Genetic Counseling helps educate families about the genetic findings.
  •  Innovation in Treatment/Research: Precision care is offered for diseases with known treatment. For those without known treatments, medical and scientific specialists help evaluate potential therapies and connect patient families with precision treatment research opportunities.

 

RPM® Family Partnership Program

We invite pediatric patient families to join us in building a supportive advocacy community. The Rapid Precision Medicine® Family Partnership Program is for families who have experienced whole genome sequencing first-hand. Through educational programs and clinical partnerships, we seek to empower families to improve the healthcare experience for children with rare genetic diseases at the local, regional and national levels.

Coming soon: kick-off event details and more on how to get involved.

  • How to get involved: Link
  • Feed of upcoming events/meetings?
  • Link: Frontiers Family panel
  • Contact: