SACHDNC presents new recommendations for storing dried newborn blood specimens

Jul 30 2011

The states should develop clear and open policies regarding retention and research uses of dried blood spot specimens left over from newborn screening, according to a new set of "recommendations for national guidance" published in Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

In the article, the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) presents new recommendations concerning the sometimes-controversial practice of storing dried newborn blood specimens. "Public confidence and trust must be sustained in all activities related to handling, retaining, and using residual dried blood spots," according to the SACHDNC report. The lead author was Bradford L. Therrell, Jr., M.S., Ph.D., of the National Newborn Screening and Genetics Resource Center in Austin, Texas.

Clear Policies Needed to Address Privacy Concerns
Newborn screening is a highly successful public health program that identifies genetic and other congenital health problems at birth. All states require newborn screening, but with significant variation in policies—including policies related to the storage and use of dried blood spots left after initial screening. For years, newborn screening programs have stored these residual blood specimens for uses such as quality assurance and program evaluation, treatment efficacy, test refinement, and result verification.

However, in recent years, some consumer communities have raised concerns about the potential uses of residual specimens, along with questions about patient and family privacy. In response to this heightened awareness and debate, the SACHDNC has developed a set of recommendations to guide state-based newborn screening programs.

The recommendations call for each state to develop clear policies regarding the disposition of dried blood specimens after NBS tests are completed, including who may access and use the samples and for what purposes. The Committee emphasizes that there are "no documented cases of harm" resulting from the use of stored blood specimens—but acknowledges potential concerns related to discrimination, psychological harm, identification of paternity, and social injustices.

Call for Education on Benefits of Newborn Screening and Research
The SACHDNC also emphasizes the need to educate physicians, families, and the public regarding newborn screening and specimen handling. They call for a "national dialogue" about policies for specimen storage and use—including the development of model policies for explicit consent or dissent ("opt-in" versus "opt-out" approaches) for secondary uses of stored blood spots. The Committee also suggests exploring the creation of a voluntary national repository of residual dried blood specimens.

A pair of invited commentaries lend expert perspective on the SACHDNC recommendations. Dianne Webster, Ph.D., of Auckland City Hospital, New Zealand, highlights the potential benefits of retaining newborn screening specimens. In New Zealand, specimen cards can be either returned to the family, destroyed at the family's request, or saved for health reasons or other less-common purposes. Under this policy, "there has been considerable benefit from uses of stored cards and very little (if any) harm," Dr. Webster writes.

Beth A. Tarini, M.D., M.S., of University of Michigan highlights two key factors influencing the recommendations: new genetic technologies that have greatly enhanced the value of stored specimens and recent lawsuits over the storage and use of blood spots. While the lawsuits reflect concern over "appropriate privacy safeguards," Dr. Tarini expresses surprise over the "bitter and contentious" rhetoric surrounding them.

Public education and clear communication about the benefits of storage and use of residual blood specimens are essential to overcoming fear and misinformation, Dr. Tarini believes. She writes, "[I]t is our responsibility to explicitly demonstrate research using dried blood sports is valuable and provides an important good."