Next week I will be taking part in a meeting on newborn screening. Duchenne is a candidate for screening. I would be thankful for your opinions about newborn screening. Please do not think I am asking you to say anything about your son or to retrace your steps. I’m asking about going forward. What are your thoughts? Concerns? If you were having a baby, would you agree to newborn screening? Would you want to know? Why?
Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren't otherwise apparent at birth. Many of these are metabolic disorders, often called "inborn errors of metabolism," which interfere with the body's use of nutrients to maintain healthy tissues and produce energy. Other disorders that may be detected through screening include problems with hormones) or the blood.
With a simple blood test, doctors can often tell whether newborns have certain conditions that could eventually cause problems. Most states, the District of Columbia, Puerto Rico, and the U.S. Virgin Islands now have their own mandatory newborn screening programs (in some states, such as Wyoming and Maryland, the screening is not mandatory).
Because the federal government has set no national standard, screening requirements vary from state to state, as determined by individual state public health departments. As a result, the comprehensiveness of these programs varies, with states routinely screening for anywhere from four to 30 disorders. The average state program tests from four to ten disorders.
State requirements tend to change periodically as well. In fact, the pace of change is speeding up, thanks to the development of a new screening technique known as tandem mass spectrometry (often abbreviated as MS/MS). This technology can detect the blood components that are elevated in certain disorders, and is capable of screening for more than 20 inherited metabolic disorders with a single test.
About half of the states are offering expanded screening with tandem mass spectrometry on every baby. However, there's some controversy over whether the new technology has been tested adequately. Also, some experts want more evidence that early detection of every disease tested for, will actually offer babies some long-term benefit. Equally important, parents may not want to know ahead of time that their child will develop a serious condition when there are no medical treatments or dietary changes that can improve the outcome. And some questions about who will pay (states, insurance companies, or parents) for the newer technology have yet to be resolved.
The American Academy of Pediatrics (AAP) and the federal government's Health Resources and Services Administration convened a task force of experts to grapple with these issues and recommend next steps. Their report identified some flaws and inconsistencies in the current state-driven screening system and proposed the following:
* All state screening programs should reflect current technology.
* All states should test for the same disorders.
* Parents should be informed about screening procedures and have the right to refuse screening, as well as the right to keep the results private and confidential.
* Parents should be informed about the benefits and risks associated with newborn screening.
All of this can be a little confusing and frightening for a new parent. The inconsistencies among state requirements mean that there's no clear consensus on what's really necessary. On the one hand, it's important to keep in mind that the disorders being screened for are rare. On the other hand, no parent wants to take any unnecessary chances with the quality of his or her child's life - no matter how small the risk.
States and hospitals determine what to screen for based on weighing the costs against the benefits. "Cost" considerations include:
* the risk of false positive results (and the unnecessary anxiety they cause)
* the availability of treatments proven to help the condition
* financial costs
While newborn screening varies by state and is subject to change, especially given advancements in technology. The disorders listed below are typically included in newborn screening programs and are listed in order from the most common (all states screen the first two) to the least common.
sickle cell disease
congenital adrenal hyperplasia
maple syrup urine disease (MSUD)
Should Duchenne muscular dystrophy be added to this list?