Expanded newborn screening raises privacy concerns

President Barack Obama is expected this week to sign into law a $100 million bill renewing federal funding for newborn screening. Involving a pinprick to a baby’s heel and a few drops of blood, newborn screening is intended to identify serious disorders within a few days of birth. But privacy advocates worry about the government collection and long-term storage of newborn DNA.

The federal law, first authorized in 2008, now includes for the first time an amendment acknowledging privacy concerns over dried blood spots stored on cards and kept on file by state governments: For blood spots used in federally funded research, scientists must obtain a consent form signed by the parents. (The consent requirement will remain in place for up to two years, until the Department of Health and Human Services updates rules governing research on human subjects.)

Citizens’ Council for Health Freedom, a patient privacy group in St. Paul, Minn., helped craft the language of the amendment, which was introduced by Sen. Rand Paul, R-Ky. “Most parents don’t know newborn screening happens,” said Twila Brase, president of the organization. “Some states have been keeping the blood, the DNA of the child, indefinitely.” Brase is happy the amendment was included in the bill but still has concerns about the screenings’ potential implications for genetic privacy.

The Newborn Screening Saves Lives Reauthorization Act, which unanimously passed the U.S. House on Wednesday, provides funding to support newborn screening programs already required by law in every state.

Newborn screening has existed for more than 50 years but has grown more comprehensive in the past decade. Around 2003, most states only tested for six treatable disorders. Today, most states require testing for at least 29 disorders, such as sickle cell anemia, cystic fibrosis, or various vitamin or protein disorders. Parents may refuse the tests on religious grounds, but 98 percent of U.S. newborns ultimately are screened.

According to the March of Dimes, 1 in 300 infants has a disorder that can be identified by screening. It’s important for doctors to find the disorders within a few days of a child’s birth, since early treatment may prevent serious harm.

A news investigation last year by the Milwaukee Journal Sentinel found widespread delays in lab testing of newborn blood samples, sometimes because hospitals were trying to save on postage costs. The delays resulted in children going untreated for serious genetic diseases within the first days after birth, sometimes resulting in disability or death. Following the investigation, dozens of states made changes to their screening programs to minimize delays.

The new federal law requires the U.S. Government Accountability Office to report within two years on the timeliness of newborn blood testing across the United States.

Brase acknowledged screening is beneficial in allowing early treatment of certain disorders, but she wants parents to be adequately informed and to understand how their state handles the blood samples. Some states retain the samples for just three months, others for 25 years or longer. Citizens’ Council for Health Freedom keeps a list of state retention policies.

The group is concerned about federal and state involvement in the screening programs: “The best way that this should be run is that the hospitals should do it, like every other test that they do on the mother and child,” Brase said. “The state should be completely out of it.”