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Federal committee aims to uniform guidelines for newborn testing

A federal committee has been studying inconsistencies in newborn screenings across the country. As advisers to the U.S. Secretary of Health and Human Services, this committee aims to give public health labs better guidelines for testing newborns for genetic disorders.

Currently, each state sets its own standards and benchmarks for newborn testing. These markers are often arbitrary or outdated, resulting in disorders not being detected soon enough after birth. This means that a child might suffer brain damage in one state, but would have been diagnosed and treated in another state.

The committee has yet to make recommendations, but will be again discussing the issue when they reconvene this May. Although they currently have no authority or federal policy in place to enforce standards, they will offer state public health departments best practices and encourage better utilization of current resources.

"Every state should be looking at this very carefully, making adjustments appropriately to make sure they minimize bad outcomes," Joseph Bocchini, chairman of the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, said in a Journal Sentinel article.

One option for states to explore is software developed by the Mayo Clinic that uses a database of true-positive test results to predict which babies might have genetic disorders. The program, called R4S, draws upon screening results from 30 million babies throughout the world, 19,000 of whom were diagnosed with metabolic disorders.

Unfortunately, many state labs and hospitals are not using this or other data collection software to improve screenings. In fact, most states are not meeting federal screening benchmarks in a timely manner. Doing so should become a priority to improve newborn patient outcomes and reduce hospital liability.

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