American Newborns Routinely Screened for Many Genetic Disorders
New parents may be surprised to learn how thoroughly their newest bundle of joy is examined. According to a report released today by the March of Dimes, babies born in all 50 states and the District of Columbia get tested for 21 genetic disorders. In some states, the tests include 29 disorders.
The genetic disorders are all rare but they can pack a devastating punch if left undetected or untreated. Some cause physical and mental disabilities and some of them can even kill a baby. These 29 disorders include sickle cell anemia, cystic fibrosis, and hearing loss.
One very small blood sample taken from the baby’s heel is all that’s needed to test for the entire spectrum of disorders. Many of these metabolic disorders produce no visible symptoms until the disorder has progressed dangerously. The tests reveal any hidden concerns for even the healthiest-looking babies, making it possible to begin any necessary treatments at the earliest possible moment.
The list of the 29 disorders was developed by the American College of Medical Genetics and, according to March of Dimes data, the drive for routine screening has been a dramatic success. In 2005, only about 36% of all newborn babies were being tested for these disorders. By the end of 2008, 96% of all newborns were tested.
For more information visit the National Newborn Screening & Genetics Resource Center
The article does a good job of communicating the importance of Newborn Screening. But, the article is misleading the readers into thinking that all is ok, when it is not. In the ACMG report referenced in the article 29 core diseases are recommended for screening and an additional 25 for reporting. The article does not mention the 25 additional diseases that some states are screening for, but most are not. The number of diseases that all 50 states can and should screen and report on is 54 plus several others, including Krabbe disease – the disease my grandson died from. We can have some comfort that most states have been paying more attention to newborn screening and have been expanding the number of diseases, but to celebrate when children are still needlessly dying and becoming permanently disable is doing an injustice to the thousands of babies and their families whose disease is not mandated yet but could be. And, I’m talking about diseases that have screens and do have treatments to either stop the disease process and/or manage the disease. Jamie is right – “knowledge is truly power” – it can save a child’s life. It could have saved my Hunter. You can find the ACMG report and more information at http://www.huntershope.org. Here is a paragraph from the Executive Summary of the 2005 ACMG report.
“The expert panel identified 29 conditions for which screening
should be mandated. An additional 25 conditions were
identified because they are part of the differential diagnosis of a
condition in the core panel or are clinically significant and
revealed by the screening technology but lack an efficacious
treatment (as with some identified through MS/MS technology)
or because there are incidental findings for which there is
potential clinical significance (hemoglobinopathies). The expert
group thought it was important that such findings be
communicated to the health care service community and to
families. In addition, the view that the technologies employed
in newborn screening be maximized is inherent in the recommendation
that all clinically significant information discovered
through newborn screening be provided to the relevant
health care professionals and/or the family.”
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Your article is good in communicating the importance of newborn screening. But, it is misleading the readers. In the ACMG report referenced in the article, 29 core diseases are recommended for screening and an additional 25 for reporting. The article does not mention the 25 additional diseases. According to the ACMG report, the number of diseases that all 50 states can and should screen and report on is 54. There are also several other diseases that have screening tests, including Krabbe disease – the disease my grandson died from. We can have some comfort that most states have been paying more attention to newborn screening and have been expanding the number of diseases, but to give the impression that we are where we should and could be when children are still needlessly dying and becoming permanently disable is doing an injustice to the thousands of babies and their families whose disease is not mandated yet but could be. And, I’m talking about diseases that have screens and have treatments to either stop the disease process and/or manage the disease. Knowledge can save a child’s life. It can save a child from suffering due to misdiagnosis and mistreatment. It could have saved our Hunter. You can find the ACMG report and more information at http://www.huntershope.org. Below is a paragraph from the Executive Summary of the ACMG report, where you will see the additional 25 diseases recommended. Why aren’t they mentioned in this article?
“The expert panel identified 29 conditions for which screening should be mandated. An additional 25 conditions were identified because they are part of the differential diagnosis of a condition in the core panel or are clinically significant and revealed by the screening technology but lack an efficacious
treatment (as with some identified through MS/MS technology)or because there are incidental findings for which there is potential clinical significance (hemoglobinopathies). The expert group thought it was important that such findings be communicated to the health care service community and to families. In addition, the view that the technologies employed
in newborn screening be maximized is inherent in the recommendation that all clinically significant information discovered through newborn screening be provided to the relevant health care professionals and/or the family.”