Via Jim Fossett comes this story from today’s Wall Street Journal about some of the problems surrounding the screening of newborns for genetic disorders. The Journal cites a March of Dimes figure indicating that the number of children being screened for these conditions has more than doubled in the past two years. That rapid expansion has brought many of the usual problems: false positives, lack of information among doctors and parents, limited availability of treatment. From Shirley Wang’s article:
To improve the screening process, health providers and government officials are starting to expand beyond the push for more screening to also address shortcomings in the entire system. Efforts include creating a national standard for assessing screening, in order to cut down on false positives. Genetics experts are developing an online map of specialists across the country to help families find treatment. And researchers and health officials are working to educate doctors about screening and create state registries to track the long-term impact of early diagnosis.
“We’re trying to see the newborn screening as a system and not a lab test,” says Rani Singh, associate professor and director of the Genetics Metabolic Nutrition Program at Emory University in Atlanta, which has been working in a collaborative of southern states to improve access to genetic services.