Optional Screening

Research studies of new tests (Pilot studies):

The Massachusetts Department of Public Health may authorize and direct research studies of new tests in the Newborn Screening Program. Research studies of new tests, called pilot studies, 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, but these 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 abnormal 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?

Beginning February 1, 1999, the Program is conducting two pilot studies called:

Why is newborn screening for cystic fibrosis and the additional set of metabolic disorders being offered as pilot studies rather than being mandated like the other 10 disorders?

There are three main reasons:

  1. To evaluate the benefit of newborn screening in bringing babies with possibly serious medical conditions to early medical attention.
  2. To find out how often these disorders occur in Massachusetts.
  3. To evaluate the laboratory tests used to screen for these disorders.

Can any newborn participate in the pilot studies?

Yes, any newborn who would be included in routine newborn screening on or after February 1, 1999 can participate.

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

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 and appropriate medical intervention.
  • Other benefits may include your own satisfaction that you are helping to answer important questions that may help other babies.

Possible Risks:

As with any testing, this testing will have one of two possible results: your baby will have either a normal or an abnormal screening result. Each of these two results has its own risks that you may want to consider:

  • If your baby has an abnormal screening result, it is possible that your baby actually does not have the disorder. To be sure, your baby's doctor may recommend further testing by a specialist who may take additional specimens (usually blood or urine) from your baby. Additional testing may cause you to worry, which is a common reaction to receiving results of tests in any screening program. If after further testing, you receive the happy news that your baby does not have the disorder, your baby's medical record should reflect the update, but you may want to make sure that this happens.
  • If your baby has a normal screening result, there is still a chance that your baby has the disorder (i.e. for some reason, the disorder was not detected by the newborn screen). If healthcare providers were to rely too heavily on the screening result for diagnosis, it could delay early medical intervention. This risk exists for all forms of screening, including the new screening tests. In any case, if your baby does not seem well, you should talk to your baby's doctor as soon as possible.

Where can I find out more about the Pilot studies?

Pilot Study #1or Pilot Study #2are available for additional information for parents who want to know more about the studies.