National newborn screening legislation is headed to President Barack Obama's desk for signature after unanimously passing the U.S. House of Representatives on Wednesday.
The legislation includes new timeliness and tracking measures aimed at eliminating delays in newborn screening so babies with deadly yet treatable genetic disorders are diagnosed quickly. The changes were made in response to a Milwaukee Journal Sentinel investigation last year that found thousands of hospitals were late sending babies' blood samples to state labs.
Patrick O'Connor, whose son has been seriously and permanently affected by delayed newborn screening, said the legislation and changes to it are "incredibly important" and long overdue.
"People who are unfamiliar with newborn screening can now have some level of confidence that there's a system of checks and balances in place," he said.
The Newborn Screening Saves Lives Reauthorization Act, which advocates worried wouldn't pass before the end of the year, reauthorizes a 2008 measure that funds $19.9 million for programs supporting the country's state-run newborn screening systems. The bill has been pending in Congress since January but stalled when Republican senators said they had privacy concerns about genetic research funded by the legislation.
On Monday, the U.S. Senate passed the bill after requiring parental consent before federally funded genetic research can be done on a blood sample. The bill returned to the House for similar changes and now goes to Obama, who is expected to sign it in the next 10 days.
Nearly every baby in the country is tested for genetic disorders shortly after birth. Blood is collected on a card that is sent to state public health labs for testing. The Journal Sentinel found that infants have died andsuffered permanent disabilities because of screening delays by hospitals and state labs.
Patrick and Katrina O'Connor's son, Peter, was born in Connecticut in 2007. His blood sample never made it to the state health lab, and so for 99 days, doctors didn't know why he was so sick. Peter has a genetic disorder that is easily treated if caught early. Connecticut required hospitals to develop a system to track results, but the hospital where Peter was born didn't do so. Left untreated, Peter suffered neurological damage in his first three months of life and, at 7 years old, is significantly behind his peers.
In its investigation, the Journal Sentinel also found that federal regulators and health officials have discussed the need to standardize newborn screening nationwide, but little action has been taken in the past 15 years. In response to those findings, other amendments to the legislation include:
■ Directing the U.S. Centers for Disease Control and Prevention to evaluate lab quality and surveillance activities so state labs can collect and share standardized data
■ Requiring the Government Accountability Office to prepare a report within two years that examines the timeliness of newborn screening in the U.S., while also summarizing guidelines and recommendations.
■ Directing a committee of experts for the U.S. Health And Human Services secretary to give recommendations on improving timeliness for newborn screening.
The legislation does not require public reporting of hospitals' and states' performance, leaving that up to each state.
In the past year, dozens of states, including Wisconsin, have made significant changes to address delays, such as identifying problem hospitals and providing them with regular performance reports, adding courier services from hospitals and keeping labs open on weekends. Several have decided to publicly post hospitals' performance online.