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The Need for National Newborn Screening Standards

Robert Tomaino, Medical Writer
4/14/2004

Forty-three years after the first newborn screening tests, no federal standards or guidelines exist to help states manage newborn screening programs. As a result many children fall through the cracks of a scattershot system, failing to receive the critical tests that could save their lives.

Dr. Robert Guthrie developed the newborn screening test in 1961 to detect a metabolic disorder known as phenylketonuria (PKU). Like infants with most metabolic disorders, infants with phenylketonuria appear normal at birth, but within days or weeks start to develop symptoms of the disorder. Failure to promptly detect and treat metabolic disorders can lead to serious complications including mental retardation, failure of affected organs, coma, and possibly death.

Newborn screening has saved thousands of infants from such medical complications, but problems in the process still persist. One key problem is the lack of comprehensive testing. Newborn screening can now be used to detect more than 50 disorders, however no state tests for all possible disorders. Some states test for more than 30 disorders and others for fewer than six. Another key problem is that many parents and healthcare professionals lack sufficient knowledge about newborn screening techniques, options for full comprehensive testing, and the full range of disorders that can be tested.

Such discrepancies between state testing programs, and the inherent healthcare inequalities, have led patient advocates, affected families, healthcare providers and some politicians to call for the federal government to play a role in establishing national guidelines and standards for newborn screening and to provide funding for education and assistance to affected families as well as education and training to physicians and other healthcare professionals.

To that end in May of 2003, Senators Chris Dodd (D-CT) and Mike DeWine (R-OH) introduced legislation to provide improved resources for newborn screening initiatives nationwide. The Newborn Screening Saves Lives Act of 2003 will provide funding to educate both parents and healthcare professionals on newborn screening. The bill also provides for funds for states to develop follow-up care programs.

"Every child in America, no matter the state in which they're born, deserves a shot at a healthy life from the very start of life," said Dodd after introducing the legislation. "By deepening our partnership with the states we can help educate parents on the importance of these lifesaving tests and provide healthcare professionals the tools they need to administer tests safely, efficiently and inexpensively. We must give parents the peace of mind in knowing that their young children's health needs are being addressed as early as possible."

The bill has been referred to the Committee on Health, Education, Labor and Pensions (HELP). If the committee decides to take action on the bill, it will study the bill, hold public hearings, and conduct special reports. The committee may alter or amend the bill. Senator Dodd hopes to move the bill through the Committee and into the Senate for a vote during this session (2nd session of the 108th Congress).

It is now estimated that one in every 1,500 newborns has a disorder that is detectable through newborn screening. Many people worry that without federal assistance in establishing guidelines and funding education efforts, hundreds of these children will continue to needlessly suffer from complications that could have been prevented.

A dedicated collaboration among patient advocates, affected families, politicians, and various healthcare professionals is necessary to expand states' newborn screening programs and ensure that all children in the United States receive comprehensive testing.

"Newborn screening can mean the difference between life and death for an infant," said Senator DeWine, when the legislation was proposed. "Currently, the number of tests performed on a newborn is dictated by the state where the child is born. It is absurd that a newborn's birthplace could dictate whether or not a child has a healthy start. The legislation that Senator Dodd and I are introducing would ensure that parents--no matter what state they live in--know about and have equal access to genetic tests and that any needed follow-up care is available."
Individuals or organizations interested in supporting the Newborn Screening Saves Lives Act of 2003 should contact members of the HELP Committee to voice their comments and concerns. The members of the HELP Committee and links to their websites can be found at the Senate website.

People interested in learning more about advocating or increasing awareness about newborn screening should contact Save Babies Through Screening Foundation, Inc., a national, nonprofit organization dedicated to improve the lives of babies by working to prevent disabilities and early death resulting from disorders detectable through newborn screening.
 

Robert Tomaino Medical Writer   Robert Tomaino is currently a freelance writer living in Danbury, CT. He graduated from the University of Richmond in 1994 with a degree in communications and journalism. Mr. Tomaino spent five years at the National Organization for Rare Disorders (NORD) where he started as a writer and became managing editor of the Information Services department. His responsibilities included writing and updating new and existing reports for NORD’s rare disease database, researching textbooks and medical databases for information on rare disorders, and developing working relationships with physicians across the country who are the leading experts concerning specific rare disorders. Mr. Tomaino also supervised a freelance writing team at NORD. After NORD, Mr. Tomaino worked at Enterprise Interactive, a business consulting firm, where he developed story ideas and researched various online sources for background information necessary to create news articles on topics related to e-commerce solutions, travel, and the Internet’s impact on business.

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