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Your Baby’s First Genetic Test

September 4, 2008

BETHESDA, Md., Sept. 4 /PRNewswire/ — September is National Newborn Screening Awareness Month and the American College of Medical Genetics (http://www.acmg.net/) strongly advocates universal newborn screening for 29 treatable conditions. In many of these diseases, serious complications such as death, disability or mental retardation are avoidable only through newborn screening, with appropriate follow-up and treatment.

“Newborn screening is a vital public health program. Through early screening, diagnosis and treatment we can prevent the truly dire consequences of a number of treatable conditions. 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,” says Michael S. Watson, PhD, FACMG, executive director of the ACMG.

To help parents, ACMG has developed a brief list of questions that expectant and new parents may want to ask their healthcare provider about newborn screening in their state.

1. What conditions and disorders are tested in the newborn screening program in our state?

   2. How and when is the test performed?   3. How and when will I get the test results of my baby's screening panel?   4. Does a negative result mean my child is not at risk for that condition?  

5. If my baby has a positive screening result, what are the recommended next steps?

If a healthcare provider and family decide to consult a genetics specialist, they can find a specially trained, board-certified genetics professional such as a medical geneticist physician or genetic counselor on the American College of Medical Genetics website at http://www.acmg.net/ which includes a free online tool “Find a Geneticist.”

“We need to make sure that every baby born in the United States has the benefit of being tested for the expanded newborn screening panel,” said R. Rodney Howell, MD, FACMG, President of the American College of Medical Genetics Foundation.

As an additional resource for medical professionals, the ACMG has developed ACTion (ACT) sheets which describe the short term actions a health professional should follow in communicating with a family and determining the appropriate steps in the follow-up of the infant that has screened positive. These are located at the ACMG homepage at http://www.acmg.net/ under ACMG ACT Sheets and Confirmatory Algorithms on the homepage.

ACMG also commends the 2008 signing of the Newborn Screening Saves Lives Act and applauds the work of the March of Dimes, Genetic Alliance, Hunter’s Hope Foundation and Save Babies Through Screening Foundation and the many other organizations who work tirelessly to save and improve the lives of children through newborn screening.

About the American College of Medical Genetics

Founded in 1991, the American College of Medical Genetics (http://www.acmg.net/) advances the practice of medical genetics by providing education, resources and a voice for more than 1400 geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics. Genetics in Medicine, published monthly, is the official ACMG peer-reviewed journal. ACMG’s website (http://www.acmg.net/) offers a variety of resources including Policy Statements, Practice Guidelines, Educational Resources, and a Medical Geneticist Locator. The educational and public health programs of the American College of Medical Genetics are dependent upon charitable gifts from corporations, foundations, and individuals. The American College of Medical Genetics Foundation is a 501 (3)(c) not-for-profit organization dedicated to funding the College’s diverse efforts.

American College of Medical Genetics

CONTACT: Kathy Beal, MBA, American College of Medical Genetics,+1-301-238-4582, kbeal@acmg.net

Web site: http://www.acmg.net/




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