Better policies on use of newborn blood spots can enhance research

In 2011, a settlement between parents and the Texas Department of State Health Services resulted in the destruction of 5.3 million “blood spots” taken for newborn screening.

The settlement alleviated some parents’ concern about using the left-over spots for research without their explicit permission, but experts from Baylor College of Medicine, Johns Hopkins University in Baltimore and Harvard University and Brigham and Women’s Hospital in Boston warn in an article in Science Translational Medicine that destroying the "spots" also destroys priceless information that could be used to find better methods of diagnosis and treatment of genetic diseases.

"We should be the generation that recognizes the potential value of these samples and commits to developing them as a resource to promote public and individual health. The scientific community has a responsibility to the nation and its citizens to use these resources responsibly but also to the fullest extent possible to improve the health of our citizenry," the authors write. They include Dr. Amy McGuire, director of the Center for Medical Ethics and Health Policy at BCM, Dr. Michael E. Scheurer, assistant professor of pediatrics - hematology/oncology at BCM, Dr. Michelle Huckaby Lewis of the Genetics and Public Policy Center of the Berman Institute of Bioethics at Johns Hopkins University, and Dr. Robert C. Green of the Division of Genetics at the Brigham and Women’s Hospital and Harvard University.

Texas is not the only entity involved. Minnesota’s Department of Health has announced plans to begin destroying the spots as soon as the screening is completed, and in Ireland, the Ministry of Health plans to destroy 1.5 million archived spots

Newborn screening is one of the most effective public health programs of the 21st century, allowing early detection of inherited disorders and allowing treatment of some to begin before they wreak havoc on the health and brains of children involved. To obtain the information, health care providers obtain a small sample of blood from the heel of each newborn, "blotting" in on a piece of special paper that is then sent for testing.

In their policy article, the authors note that the value of newborn screening is accepted, but the blood spots also have proven valuable in studies that make sure the screening is of high quality, detect environmental toxins, determine the rates of HIV infection in a population and carry out metabolic or genetic testing on children who die unexpectedly in infancy.

They point to the use of the samples in the study of childhood leukemia that enabled researchers when the genetic modification that sparked the disease began. The list of possible uses of the samples is large.

However, because public health authorities did not specifically ask parents for permission to use the samples in research, controversy arose that resulted in the Texas and Minnesota cases. However, laws in states vary. Only six states require parents’ permission and the issue is vague in another 18. Ten states report storing the samples for only a year.

One way to handle the issue might be to allow parents to "opt-out" of allowing their children’s samples to be used for purposes other than screening, but McGuire and her colleagues recommend getting explicit permission from parents for these activities as the appropriate path. They also recommend promotion of partnerships among researchers, the public and health departments that could provide education on the value of the samples and the research involved. Strong policies to prevent the misuse of the samples must be in place.

"In this way, loss of this valuable resource can be prevented and the public trust in the research enterprise can be restored," they write.

Funding for the work came from the National Human Genome Research Institute, grants HG006594, HG02213, HG006500, and HG005092.