Precision Medicine Service

Program Overview

The Precision Medicine service at Boston Children’s Hospital uses genetics to help inform care for children with diseases that are rare, hard to diagnose, and likely have a genetic component. Precision Medicine may be helpful if your child has:

  • Symptoms that affect many parts of the body/systems
  • Biological family members with similar symptoms
  • A family history of miscarriages or siblings who died early in life
  • Many family members with genetic diseases or parents who are related (example: cousins or second cousins)
  • Any unusual symptoms or has been seen by many specialists with no clear diagnosis

Healthcare Context

The average diagnostic journey for rare and complex diseases can take up to 7 years. Utilization of the Precision Medicine service can help patients and their families avoid unnecessary stress, testing, and rule out potential causes for symptoms earlier in the care journey. For more patient stories related to Precision Medicine, please visit the website here.