ACMG recognizes progress made in newborn screening

Jul 16 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.