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News from News Medical.net July 16,
2007
ACMG recognizes progress made in
newborn screening
Child Health News Published: Monday, 16-Jul-2007
In support of the latest March of Dimes Newborn Screening Report
Card, the American College of Medical Genetics (ACMG) strongly urges
every state to require complete testing of all newborns for a 'core
panel' of genetic and congenital conditions.
It is estimated that currently more than 500,000 babies annually are
still not screened for the full panel of debilitating or
life-threatening disorders. In many of these diseases, serious
complications such as death or mental retardation are avoidable only
through newborn screening, with appropriate follow-up and treatment.
The Executive Summary of Newborn Screening: Toward a Uniform
Screening Panel and System is available to download at:
http://www.acmg.net/resources/policies/NBS/NBS-sections.htm and the
Newborn Screening ACT sheets are available at http://www.acmg.net/resources/policies/ACT/condition-analyte-links.htm.
The March of Dimes also offers information about the recommended
newborn screening tests at www.marchofdimes.com/nbs.
"More thorough newborn screening programs will save lives and reduce
disabilities. Advances in technology have made it possible and
feasible to test newborns for a number of serious or deadly diseases,
which can then be treated. With the current expansion of newborn
screening panels, it is estimated that about 10,000 of the 4.1
million babies born each year in the United States will be
identified with one of the conditions for which treatment will have
a significant impact on long-term outcome. At ACMG, we will continue
to monitor new advancements in testing and screening and translating
these genetic discoveries into recommendations to improve public
health and save lives, " said Michael S. Watson, PhD, ACMG executive
director.
"When newborn screening detects an abnormality, early diagnosis and
treatment can make the difference between a healthy life and one
that is shortened or requires long-term care. These tests can make a
huge difference to a child and family," said Joe Leigh Simpson, MD,
FACMG, FACOG, President of the American College of Medical Genetics.
The ACMG Newborn Screening report released in May 2006 was
commissioned by the Maternal and Child Health Bureau of the U.S.
Health Resources and Services Administration and written by the ACMG
Newborn Screening Expert Group, which included representatives of
the Centers for Disease Control and Prevention, the Health Resources
and Services Administration, the National Institutes of Health, the
American Academy of Pediatrics, the March of Dimes Birth Defects
Foundation, and the Genetic Alliance as well as experts in health
policy, law, ethics, public health and consumer advocacy group
representatives.
All of the conditions recommended for inclusion in the core
screening panel can be identified shortly after birth, but would not
ordinarily be detected without testing. For each of the core
diseases, an accurate test is currently available and there are
demonstrated benefits of early detection and treatment. Further,
ACMG has recently made available to all pediatricians and newborn
screening programs in the United States a set of materials (ACT(ion)
sheets and algorithms for diagnostic confirmation to guide them
through the process of confirming the diagnosis in a baby who has a
positive screening test result.
"We need expanded newborn screening in the United States. Newborn
screening costs so little and yet can save so much," said R. Rodney
Howell, MD, FACMG, president of the American College of Medical
Genetics Foundation.
http://www.acmg.net
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