Voluntary Newborn Screening

Research studies of new tests (pilot studies)

The Massachusetts Department of Public Health may authorize and direct research studies of new tests, or pilot studies, in the newborn screening program. Research studies of new tests are done when the Department of Public Health expects they could benefit both individuals and the public health. No additional blood will be taken from your baby. The tests will screen for a number of disorders in addition to the routine testing already described.

Results of pilot studies are reported with routine screening results. As with routine newborn screening, if there was an out-of-range result, your baby's doctor would work with the right specialists to manage any special care that your baby might need.

What pilot studies are being done now?

Please see the colored insert on the Parent Brochure.

Why is newborn screening for some disorders offered as a pilot study rather than as a mandated study?

The Massachusetts Department of Health has determined that there is not yet enough evidence to require (mandate) routine newborn screening for the disorders included in the pilot studies. The department needs more information on one or more of the following questions:

• What is the extent of benefit from newborn screening for these disorders? (Does it save lives? Does it prevent serious life-compromising outcomes? Do the treatments work as expected?)
• How often do these disorders occur in Massachusetts?
• How good are the laboratory tests used to screen for these disorders?

Can any newborn participate in the pilot study?

Yes, any newborn who would be included in required newborn screening may participate.

May I refuse to participate in the pilot study?

Yes. You may refuse your baby's participation in the current pilot study, for any reason. If you refuse, your baby will NOT be tested for any of the disorders in the current pilot study. If you refuse, your baby will still have all the advantages of routine newborn screening.

How do I enroll? Or, how do I refuse to participate?

After your baby is born, you will be asked if you want your baby to be screened for the disorders in the pilot programs.

Important: You will be asked to give your response before your baby's specimen is sent to the screening lab.* Your answer will be indicated on the newborn screening collection form. When your answer is recorded on your baby's specimen collection form, you will be given a copy of the form to keep for your records. See a sample of the specimen collection form.

* Specimens are obtained 24-72 hours after birth, or prior to discharge if discharge is earlier than 24 hours. In order to ensure that routine newborn screening of your baby for the 30 mandated disorders is not delayed, the specimen must be collected and transported promptly.

What are the general benefits and risks associated with the pilot study?

Possible Benefits

The most important individual benefit for your baby is the following: If your baby does have one of the disorders included in the study, your baby will have the earliest opportunity for detection of the disorder.

Other benefits may include your own satisfaction that you are helping to answer important questions that may help other babies.

Possible Risks

The most important individual risk for your baby is rare: If your baby does have one of the disorders included in the study and the study testing does not detect your baby’s disorder, there could be a delayed diagnosis. This is always a risk with any screening. Not detecting a disorder should be an unusual event, whether the testing is tried and true or still being studied. If your baby does not seem well, or does not seem right, talk with your baby’s health care provider.

Other risks include the possibility that the screening will show information that your baby has a disorder or a condition that we were not looking for, but that showed up as a by-product of the screen. Some believe this to be a benefit and for others, it is a risk. Finding by-products can happen with most any testing. Such results are reported to your baby’s health care provider.

The most common risk is that an out-of-range screening result may require additional testing and may cause you to worry, even if it turns out that your baby does not have a newborn screening disorder.

Note: All of newborn screening services (required and voluntary) are performed in compliance with Massachusetts and Federal rules and regulations that protect personal information and minimize the risk of a breach of confidentiality. Participation in a pilot study does not include any additional risk.

Where can I find out more about the current pilot study?

See the colored insert and the section entitled “More about the current pilot study” in the Parent Brochure.