This article has been corrected to note that the paper was commissioned by the Advisory Committee on Heritable Disorders in Newborns and Children, not SACGHS. ACHDNC also will receive the recommendations from the authors. The Department of Health and Human Services plans to review the practices and policies surrounding the use and storage of dried newborn blood spots after screenings in biobanks, and a new white paper will frame the issues that HHS will consider.
The new paper, commissioned by the Advisory Committee on Heritable Disorders in Newborns and Children, will recommend that the federal government provide funding and administrative support for several aspects of dried blood spot storage and screening. It also will recommend that parent or patient consent should be obtained for certain uses, and it advises their accessibility and their dispersion should be controlled.
An executive summary is now available outlining the paper's recommendations.
The white paper was drafted by Bradford Therrell, who is director of the National Newborn Screening and Genetics Resource Center (NNSGRC) and a professor of pediatrics at the University of Texas Health Science Center at San Antonio, and Harry Hannon, who is emeritus branch chief of the Newborn Screening Branch at the Division of Laboratory Sciences, US Centers for Disease Control and Prevention
In a summary of the white paper, which Therrell and Hannon presented in a conference call today that was hosted by Genetic Alliance, the authors outlined seven recommendations they will deliver to ACHDNC, which will then develop policy recommendations for HHS Secretary Kathleen Sebelius.
Therrell today said that how HHS should propose dealing with the increase in genetic testing on newborns and the potential for genome scans being conducted on newborns "will be good questions" for ACHDNC to answer as it develops specific policies. Hannon agreed, adding that "privacy and confidentiality are going to be big points" that the committee is expected to discuss.
Newborn spot samples "have the potential to generate population-based knowledge that can improve the health of children, support families, and provide information critical to understanding the antecedents of adult diseases," the authors noted. But, they argued, residual storage of these specimens must be done in a way that will assure that the confidentiality and privacy of families is respected and that the specimens are protected.
"Policies are needed in each state to promote public trust, emphasize transparency of administrative practices, and create supporting information that encourages informed public participation," they wrote. Current state laws, while enabling local control and accountability, have created an environment of wide practical variation across the country, according to the authors.
A lack of standardized consent policies, for example, is a concern for researchers seeking to use genetic information from these samples in genome-wide association studies and other research.
There also is no universal definition of specimen ownership once the screening process is complete, and there is a lack of public awareness about newborn screening, the authors intend to tell the committee.
The American College of Medical Genetics, which has advised that all newborns in the US be screened for 29 conditions, recently released a statement that aimed to assuage concerns about the manner in which residual spots are stored and highlighted their importance.
"Residual dried blood spots are vital to effective newborn screening across the United States," Michael S. Watson, executive director of the American College of Medical Genetics, said in a statement issued in May.
"There has been some debate recently whether the residual dried blood spots should be destroyed after screening," ACMG noted. But the group said that these samples are "a valuable national resource that can contribute significantly to the health of our children," and that they "are stored with rigorous control and respect for privacy and confidentiality to protect the public."
Therrell and Hannon plan to provide ACHDNC with seven recommendations:
• All state newborn screening programs should have a legally reviewed and accepted policy addressing the disposition of dried blood specimens remaining after newborn screening testing is completed and the screening results have been validated.
• These screening programs also should have legally reviewed and accepted policies about who may access and use dried blood specimens once they arrive at the state-designated newborn screening lab, including further access after newborn tests are completed.
• All state newborn screening programs should maintain and distribute educationally and culturally appropriate information that includes basic information about how to use these specimens.
• All state newborn screening programs should work to ensure that all women receiving prenatal care are educated about newborn screening.
• If residual blood specimens are to be used for any processes outside of the legally required newborn screening process for which they were obtained, an indication of the parents' awareness and willingness to participate should exist in compliance with federal research requirements.
• Newborn screening programs should assess the utility of any additional consent/dissent process implemented in order to better address issues of storage and use of residual dried blood specimens. The authors argue that the federal government is encouraged to fund such utility projects over the next five years.
• The federal government should provide both funding and administrative support for models of consent and dissent processes on the use of residual specimens in newborn screening; model educational programs for the general public on the importance of newborn screening and the most potential uses of residual specimens to generate population-based knowledge about health and disease; national data on the utility of any additional consent/dissent processes implemented relative to potential research uses of residual newborn screening specimens; and educational materials with facts about potential uses of residual newborn screening specimens for both consumers and prenatal healthcare providers.