For Julie Hagen of West St. Paul, life with her daughter Lexie is almost normal, as long as the right foods are nearby.
Lexie, 4, was born with a rare metabolic disorder that prevents her body from breaking down fat. As long as she avoids fat and sticks with carbohydrates, she's fine, her mother said.
"She can't go more than four hours without food during the day," Hagen said. "If she's exercising she needs more food for fuel, and more sugars."
Hagen learned about her daughter's disorder just three days after she was born, when the results from Lexie's newborn blood screening test revealed there was a problem. Hagen said those early results probably saved her child's life, because doctors were able to quickly change Lexie's diet before the fats in her system did serious damage.
“Our genetic information is ours ... until there is consent for the use of our genetic information, no research should happen.”Twyla Brase, privacy advocate
On Tuesday, parents, doctors and researchers urged state lawmakers to reject proposed restrictions on Minnesota's Newborn Screening program -- changes that could keep other parents from such lifesaving results.
Amendments in two Senate bills would require the Minnesota Department of Health to promptly destroy the blood samples that are collected from newborns to identify rare medical disorders that aren't obvious at birth.
Currently, the agency stores the blood samples indefinitely so they can be used for quality control tests or disease research. The new rules would allow parents to give their written permission to store the material up to a maximum of two years.
Linda Hagen is grateful the Health Department automatically screens all newborns for rare medical conditions, and she doesn't have any qualms about how the agency conducts its program.
"It's one little prick," she said. "They're not invading your privacy, and it's to watch out for the life of your child."
Twila Brase, president of the Citizens's Council for Health Freedom, disagrees. Brase said the Health Department's policy of storing the blood samples indefinitely, and making them available to researchers without consent, is deeply troubling.
"Our genetic information is ours and if we give consent, the research can happen," said Brase, whose nonprofit group lobbies for patients and physicians rights. "Until there is consent for the storage and the use of our genetic information, no research should happen."
Brase said her group isn't trying to stop the state from conducting newborn screening. But others say that's exactly what would happen.
Patricia Simmons, a pediatrician at the Mayo Clinic, said federal rules called the Clinical Laboratory Improvement Amendments require the Health Department to preserve its blood samples so the agency can perform quality control tests.
"They require that we have to substantiate, prove, re-test," Simmons said. "If we lose our ability to do that, we can no longer do these tests because we would jeopardize our ability to do any test, and we cannot do that."
An official with the Health Department confirmed that its CLIA authorization could be revoked if its laboratory is not allowed to store its testing results for at least two years.
Health department officials say they have never provided newborn blood samples to researchers affiliated with a private business entity. All of the research so far has been conducted by University of Minnesota and Mayo Clinic scientists who are trying to develop new screening tests to identify other rare diseases.
Some doctors say they use the state's screening data from time to time.
"We use the information not only to help diagnose children, but to provide genetic counseling and information for families as they're considering future pregnancies," said Nancy Mendelsohn, a clinical geneticist at the Children's Hospitals and Clinics of Minnesota. "So they understand what their risks are as to whether or not they'll have another child that could be similarly affected."
Minnesota is one of 18 states with a policy on storing and using newborn blood samples. But the language may be too broad for some people who are concerned about privacy, said Dr. Michelle Lewis, a researcher at the Johns Hopkins Berman Institute of Bioethics.
"One of the concerns about the lack of transparency on the part of states regarding the retention and use of residual newborn screening blood samples ... is that it ... could undermine the public's trust in both newborn screening programs and the research enterprise," she said.
Lewis and her colleagues recently completed a study looking at how states communicate with the public about what they're doing with newborn screening material. She said at a minimum, all states should require that parents be fully informed about how babies' blood samples will be stored and how they might be used.
States that don't do that, Berman said, risk losing the public's support for testing.