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Inclusion in State Brochures That Newborn Screening Is Not A Carrier Screening Program

  • The views and opinions expressed in this post are those of the author and do not necessarily reflect the official policy or position of Genetic Alliance.

    My interest in Newborn Screening was initiated by the birth of my grandson and his diagnosis with Cystic Fibrosis (CF). Cystic Fibrosis is an inherited genetic disease, and one in 29 people is a symptomless carrier of the defective gene and most are unaware of it. Although the American Congress of Obstetricians and Gynecologists (ACOG) recommends preconceptual testing for all ethnicities, the testing is often done during the third trimester of pregnancy.  Eighty percent of newly diagnosed patients do not have a family history of the disease and doctors cannot rely on the age-old question, is there a family history? It doesn’t work with Cystic Fibrosis. If you and your partner do not know your carrier status, ask to be tested before a pregnancy. In addition, it is cost effective for insurance companies (read the ACOG Committee Opinion #486 at www.acog.org).

    Newborn screening (NBS) for CF is done on every baby born in the US.  The screening is not a diagnostic test nor is it a carrier-screening program. A sweat test must be performed to diagnose CF. All states do not use the same tests. My grandson would not have been “red flagged” for CF in his screening in some states. All states have a brochure about newborn screening that is, hopefully, given to the parents when the child is screened. I have learned that there is a lack of information regarding carrier status in these brochures.  Although NBS is not a carrier-screening program for Cystic Fibrosis, it does identify some newborns who are carriers.  Ultimately those parents are benefitting from this information, even if that is not the state’s intent and even if the state and/or pediatrician are not using the term “carrier” when contacting parents with the test results. 

    As a matter of equity, all states should include some information in their Newborn Screening Brochure informing parents that their child may be a Cystic Fibrosis carrier even if the test screens negative. Absent this information, parents may read the brochure and be given the false impression that their “screen negative” child is not a Cystic Fibrosis carrier, in which case the child may not undergo carrier testing during his or her pre-conceptual years.  Critically, carrier status information can help prevent CF, which is in keeping with prevention over treatment.  It is NOT enough to provide information regarding carrier status only to those parents whose child had a positive Cystic Fibrosis newborn screening result. It seems indisputable that a brochure containing information about the possibility of a newborn having an inherited genetic disease should contain some information for the general public to understand the importance of carrier status.

     Prevention has to start somewhere with Cystic Fibrosis, as well as other genetic diseases, and what better place to start than with the newborn who might be a carrier? While the goal of the newborn screening system is to impact the health of the newborn, do we give no education to parents that could help future newborns (whether of the newborn or the parents themselves i.e., if two unknown carrier parents have a newborn who is not a carrier, or not a carrier of one of the mutations on the panel, then they may not realize that their future child could be a carrier or have the disease)?

    All states have a question and answer section in their brochure.  These vary from state to state. An example of a proposed addition to the brochure: “Our family has never had any of these health problems, could our children still be at risk?”

    Parents who have already had healthy children do not expect any problems and they are almost always right.  These disorders are quite rare and the chances are excellent that your child will not have one.  It is possible for both parents to be a carrier of the defective gene even with healthy children (who themselves may be carriers).  A carrier has a defective gene that unknowingly can be passed from parent to child.  Family history of a genetic disease need not be present to have or be a carrier of a genetic disease.  Please be advised that newborn screening does NOT identify all newborns (or by implication parents) that are carriers of an inherited genetic disease.

    There needs to be equal educational materials given to all parents throughout the US.  My project encourages states to look at the options within their brochures and update them to provide accurate and educational information to all parents.  These changes will be cost effective for insurance companies and will protect, improve and promote the well-being of all newborns as well as provide access to quality evidence based health services. 

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