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Frequently Asked Questions | Overview

Is this service right for my child?

Our precision medicine service has helped a wide range of patients. To help you understand if your child may benefit from our service, we have provided some details below. A precision medicine appointment may be helpful if your child has:

  • symptoms that affect many parts of the body
  • 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
  • any unusual symptoms
  • has been seen by many specialists with no clear diagnosis

This is not a complete list as we consider all patients on a case-by-case basis.

How much does the service cost? Who can I contact with questions about cost or insurance coverage?

Costs for precision medicine services vary depending on whether you choose to receive an Online Second Opinion or an in-person appointment:

  • An Online Second Opinion has an out-of-pocket cost of $975 for Cancer & Blood Disorder cases and $675 for all other cases, which includes help with medical records collection, a dedicated care coordinator and an expert medical opinion report.
  • If you choose to travel to Boston Children’s Hospital for care, costs may vary based on the types of services and the tests the healthcare provider recommends.
    • Many insurers have limited coverage for specific complex genetic tests which can result in a significant out-of-pocket expense. Although our Patient Accounts Representative will verify your benefits and seek referrals and authorization where necessary, we encourage you to refer to your subscriber handbook or call your insurance directly with questions regarding the likelihood of coverage for specific services.
    • Learn more about accepted health insurances and read our FAQs about financial and billing matters.
If my child has already received genetic testing, can they benefit from the Precision Medicine Service?

Yes, your child may benefit from the Precision Medicine Service if they have already received genetic testing. Based on your child’s previous genetic testing, our Precision Medicine Experts may:

  • help explain your child’s genetic test results
  • provide additional genetic testing interpretation
  • recommend additional testing, if appropriate
  • develop a customized care plan for your child
  • connect your child to clinical trials and research studies, if appropriate and available, and more
What is genetic testing? What is precision medicine?

Genetic testing is a type of test that looks for changes in chromosomes, genes and/or proteins (the basic building blocks of the human body). Genetic tests may show whether or not someone has a genetic condition. They may also help healthcare providers figure out a person’s chance of developing a genetic disorder and/or passing one on to their children.

Our precision medicine service aims to identify patients who may have a genetic component to their condition, have received genetic testing, and/or may benefit from genetic testing. The service matches patients to the clinical expert where appropriate, who may recommend genetic testing. Based on your child’s genetic test results, whether they received genetic testing at or outside of Boston Children’s Hospital, our healthcare providers will customize a care plan for your child.

What are the risks, benefits and limitations of genetic testing and genetic testing interpretation?

Genetic testing may help patients and their families find an earlier diagnosis and better understand their condition, get the best care for their condition and identify the best available treatment options. For more information about the benefits of genetic testing please visit

However, there are risks and limitations to genetic testing. Genetic testing may:

  • not always find a diagnosis
  • find a diagnosis which does not have a known treatment at this time
  • not be covered by your insurance plan

In addition, genetic test results will become part of your child’s medical record. For more information on the risks and implications of genetic testing please visit

How do I know which genetic tests are appropriate for my child?

There are many types of genetic tests. Based on your child’s condition and family medical history, Boston Children’s Hospital healthcare providers will decide what kind of genetic testing, if any, is appropriate for your child.

What is an Online Second Opinion? How is it different from a direct to in-person visit?

An Online Second Opinion lets you get an opinion from our team of experts without having to come to Boston Children’s Hospital. The opinion will be shared with you within 7-10 days after your records are collected. An 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

The in-person visit is for families who would like to travel to Boston Children’s Hospital. The healthcare provider will speak with you in person to ask you questions and to answer yours. 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
Who do I contact for updates and questions regarding where my child is in the precision medicine process?

If you have any questions throughout the process, you can contact our Precision Medicine Coordinator. They will be your main point of contact when you first submit your request and throughout your child’s care. You can contact the Precision Medicine Coordinator at