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What is our precision medicine service?

Our precision medicine service uses genetics to inform care for children, including those with a disease or disorder that is rare, difficult to diagnose, or likely genetic. Our services aim to help children and their parents receive an earlier diagnosis, better understand their condition, get the best care, and identify best available treatment options.

What does our service offer?

Our service helps to connect patients to the appropriate Precision Medicine Expert at Boston Children’s Hospital. Precision Medicine Experts practice in a wide range of departments across Boston Children’s Hospital, and have deep expertise in their respective specialties as well as genetics.

Based on the condition, our Precision Medicine Experts may review previous genetic test results, if available, or recommend genetic testing. In some cases, our experts can use this information to diagnose your child’s condition, which is often the first step in managing genetic syndromes, diseases, or disorders.

Many rare genetic-based conditions do not have a known treatment at this time. In these cases, our Precision Medicine Experts may help rule out other causes, avoid unnecessary treatments, and connect your child to clinical trials and research studies.

Whether our Precision Medicine Experts can make a diagnosis or not, our Precision Medicine Experts can make medical recommendations that are best suited to your child’s unique condition.

How does the process work?

The precision medicine process is different for every child, depending on the complexity of your child’s condition, if your child has already had genetic testing, and if our expert recommends new or additional genetic tests for your child. In general, there are two ways to access our Precision Medicine Experts:

woman holding infant while filling out a form.

Receive an in-person appointment for your child at our hospital

An in-person visit is 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

As part of an in-person visit, your healthcare provider will make a medical recommendation which may include genetic testing. If your child has already had genetic testing, or following return of test results, which can take 3 to 12 weeks once the test is ordered, your provider will discuss your child's results for future care planning.

child sitting on a woman's lap, looking up from tablet and smiling.

Receive a remote opinion from our experts

Online Second Opinion is 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 which specialty to schedule with

As part of the Online Second Opinion, our expert will answer your questions and give recommendations on your diagnosis and/or treatment plan, which may include additional in-person follow-up with a physician and/or care plan suggestions. After we receive your child’s medical records, we aim to deliver the opinion within seven to 10 business days. The cost of an online second opinion is $1,150 for cancer and blood disorder cases, and $850 for all other cases.