Retention and Research Use of Residual Newborn Screening Bloodspots

Abstract

The storage and use of residual newborn screening dried blood specimens has generated significant controversy in the past 5 years, primarily because of public concerns over the lack of parental knowledge and consent for these activities. State policies addressing the management of these specimens vary widely, and there is currently little guidance to aid new state policy development to address the concerns of program professionals, investigators, and the general public. This article offers guidance for state policy based on multiple sources of data, including public attitudes, professional statements, state experience, and an analysis of the ethical, social, legal, and biomedical issues from a multidisciplinary group of scholars. This guidance will be useful for state programs that seek to develop policies that are informed by a contemporary analysis of the key ethical, legal, and social aspects of this practice. This article represents the work of the authors and does not represent American Academy of Pediatrics policy.

Disease Prevention and Control

“…If diseases are detected in the newborn period, treatment can begin immediately. NBS is conducted on almost 100 % of the newborn population in North America, roughly four million infants per year in the United States (Botkin et al 2012 ). Screening panels have steadily increased the number of conditions tested, with upward of 40 conditions included in some NBS programs.…”

“…In the U.S. state of Nebraska, for example, screening is mandatory without exception (Schweers 2012 ;Foral 2006 ). In other U.S. states, screening proceeds on an o pt-out basis, although studies indicate that often parents are not afforded the opportunity to consent or are poorly informed about the opt-out option (Botkin et al 2012 ). This may even be the case where screening proceeds in an ostensibly informed choice manner, such as in the United Kingdom (Nicholls 2012 ;Nicholls and Southern 2012 ).…”

“…Dried bloodspot samples are often stored for a number of years after collection, but the length of storage varies by jurisdiction (Botkin et al 2012 ). Samples are retained for various reasons including repeat testing, quality control of testing procedures, or as part of diagnosis.…”

“…In addition, samples also may be used (anonymously) for external quality assurance and research. While there is no consensus, a recent expert panel recommended a minimum storage period of about 3 months to allow for quality assurance, and indefi nite storage when initial positive (i.e., disease suspected) results are confi rmed by diagnostic testing (Botkin et al 2012 ). In fi ve U.S. states, a parent has the legal right to request destruction or release of dried bloodspot samples, and in three states children may do so when they reach the age of majority (Lewis et al 2011 ).…”

Using Newborn Screening Bloodspots for Research: Public Preferences for Policy Options

“…22 Seeking to sustain research capacity while recognizing these concerns, recent guidance emphasizes the importance of transparency regarding the storage and research uses of dried bloodspots but remains ambivalent on the question of consent. Botkin et al 23 state, "Either an opt-in or an optout approach for enabling parental choice can be ethically acceptable. In either case, parental education and public transparency are central to the ethical conduct of the program…" Despite this apparent flexibility, proposed changes to the Common Rule, prompted by the NBS Saves Lives Reauthorization Act of 2014, suggest that US federally funded NBS research will require explicit consent for use of bloodspots, eliminating the ability of ethics boards to waive consent.…”