A decades-old program to screen newborns for certain hereditary diseases could be at risk because parents across the country have grown concerned about what happens to the leftover blood, according to a Johns Hopkins researcher who has studied state laws.
The states keep the samples, for years or decades, for laudable reasons, like research to improve the tests or studies into genetic disorders, said Dr. Michelle H. Lewis, research scholar at the Berman Institute's Genetics and Public Policy Center.
But Lewis said they've not done a good job keeping parents informed about what identifying information is retained and passed on to researchers, and some parents in Texas and Minnesota are reacting with lawsuits over violations of genetic privacy. That threatens not only the research but the screening program itself, considered a huge public health success.
"It is vital that state policies regarding the retention and use of residual samples not undermine the public's trust in state newborn screening programs — so that these programs can continue to protect the health of our nation's children," she said.
Lewis said she believes most parents would be OK with research if they were assured of confidentiality for their children. Nearly all of the 4 million babies born each year around the country are screened.
Under the program, created in the 1960s, parents are often given a pamphlet or information about the tests, which look for a host of genetic disorders, including phenylketonuria, or PKU, and sickle cell disease. Early diagnosis allows a child to be treated immediately and often more effectively.
But that's where consistency ends, Lewis said.
In her research, published in March in the journal Pediatrics, she found that only 13 states specify how the samples might be used, and even then the language is broad. Only eight states require that parents be given information about retention of their child's blood. Four states make the sample property of the state.
In general, most states lack a requirement that parents be told that the sample may be stored for future use. Lewis said that was the problem in Texas. As part of their out-of-court settlement in December 2009, the state agreed to destroy 5 million samples dating back to 2002.
The Texas Legislature has since passed a law allowing parents to opt out of sample storage and is considering more privacy protections. But another lawsuit has been filed by Texas parents in federal court over some of the samples already given to a military lab for research, and that case has not yet been settled.
Nick Jackson, an attorney for the Texas Civil Rights Project, which brought the suits, said the challenges are not about stopping the screening program or even the research, which the majority of parents support.
He said it's about transparency. Texas didn't have a solid method of protecting privacy, even though names were reportedly removed from samples before they were handed out to researchers. Parents understood that some information might be needed, such as for research into diseases that affect certain ethnicities, but they wanted to know about it and know the information was in good hands, he said.
"If they don't place good protection on [the samples] when they send them out, who knows what can be done with them?" Jackson said. "There is a lot of other information that can be attached, and other information can be just as powerful as a name."
Jackson expects the federal case will draw attention in other states, though it may not directly affect them. A federal law overseeing human research subjects isn't likely to be expanded to cover these blood samples.
There's been no litigation in Maryland, state officials said. About 75,000 babies are born each year in Maryland, and all the samples have been sent to the State Genetic Screening Laboratory for testing since 2009.
At the hospital, newborns are pricked in the heel and the blood is put on a card with identifying information and dried. Jodie Bell, manager of the newborn nursery at the Greater Baltimore Medical Center, which has one of the state's largest delivery units, said parents sign a permission form for screening. It gives an explanation of the testing and lists the conditions on the back.
The form does not mention any other use or storage of the sample. Parents can decline the screening, but that almost never happens, said Frances Phillips, Maryland's deputy secretary for public health.
Phillips said that after the screening is done, the cards are batched and shrink-wrapped and then sent into climate-controlled storage in state facilities for 25 years. It's not clear how many samples are in storage because before 2009 some samples were tested at private labs that may not have kept them.
Phillips says the samples are kept so parents can retrieve them if they are needed for medical review. That's happened infrequently, she said. And no parent has ever sought to have a sample destroyed.
The state law sets limits on the research that can be done, but parents do not have to be notified when they are sent to researchers because identifying information is removed first. She said about a half-dozen times in recent years researchers have requested and been granted access to the samples by a special review panel.
One research project was "very productive," she said. It developed a new test that identifies an immune disorder called X-linked severe combined immunodeficiency, or bubble baby syndrome. It's now included in the newborn screening.