Precision Medicine Service

What is our precision medicine service?

Our precision medicine service uses genetics to inform care for children, including those with a disease that is:

  • Hard to diagnose
  • Rare
  • Likely genetic

Our service offers:

  • Genetic testing
  • Review of genetic testing results
  • Medical recommendations and care planning from specialists in many areas of expertise

Our services aim to help children and their parents:

  • Get the best care for their condition
  • Identify best available treatment options
  • Receive an earlier diagnosis and better understand their condition

A precision medicine appointment 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

Consultation types:

  • Online Second Opinion: Receive a remote opinion from our experts in 5-7 business days after your child’s medical records are collected
    • Often preferred by families who:
      • Do not live in or near Boston
      • Are not sure if an in-person evaluation is appropriate
      • Have questions about their child’s diagnosis or treatment
      • Have a child with complex conditions and are unsure of which specialty to schedule with
    • In-person visit: Receive an in-person appointment for your child at our hospital
      • Often preferred by families who:
        • Live in or near Boston
        • Want to come in-person and are willing to travel
        • Know what specialty to schedule with

How do I get started?

Visit our BCH Precision Medicine program page to learn more.    You will then be able to submit an eligibility form that will be reviewed by our Precision Medicine team.  The Precision Medicine website can be found at the following address: