NPR logo Screening Newborns for Genetic Diseases

Screening Newborns for Genetic Diseases

A new survey finds that states are doing a better job of screening newborns for treatable genetic disorders. But many affected babies are still being missed.

A heel-stick blood test soon after birth can flag doctors if a baby has one of 29 different genetic defects. The list includes well-known problems, like cystic fibrosis, and a host of obscure disorders. They can be fatal or severely disabling. But they all can be treated if caught in time. The American Academy of Pediatrics and the March of Dimes say all babies should be screened for all the conditions.

States are doing better. Last year, only 38 percent of newborns were screened for 20 or more conditions. This year the March of Dimes says 64 percent will be. But that still means that more than a million babies will not be screened for all 29 treatable disorders.

Only five states and the District of Columbia currently screen for all 29. — Richard Knox

Heart Disease Detection

July 10, 2006 — New research indicates that doctors don't need to add more tests to determine who's at risk for heart disease and who should be treated.

About one in five people who develop heart disease don't have any of the traditional danger signs —- high cholesterol, high blood pressure, diabetes, smoking history. To identify that other 20 percent, researchers have been looking for additional tests.

A study in the Archives of Internal Medicine shows they haven't found one yet. It looked at levels of 19 different chemicals in the blood of 16,000 people. None of the tests added much to the predictive power of tried-and-true risk factors —- not even a substance called C-reactive protein, which some say should be added to routine physicals.

Instead, one commentator says doctors should do a better job of treating high cholesterol and blood pressure. Two-thirds of Americans with these conditions don't have them under control. — Richard Knox

GAO Faults Medicare Rx Help Lines

July 10, 2006 — Medicare prescription-drug plans continue to provide consumers with inaccurate or incomplete information, according to government auditors.

The Government Accountability Office made 900 calls to help lines at 10 of the largest drug plans in March. While waiting times had improved significantly from an earlier study, the information provided continued to be problematic, GAO said in its new report. Answers to five basic questions about coverage were correct and complete only a third of the time. More than a fifth of the answers were factually inaccurate; the rest were incomplete or no answer was given.

Medicare officials disputed the report's findings, saying the questions were misleading and in some cases asked for information that plans are not required to provide. GAO, however, says it stands by its methodology and conclusions — that patients who rely solely on information from the plans could end up spending more or getting less coverage than they thought. — Julie Rovner