Staking the public trust on newborn dried blood spot retention: how the Beleno and Bearder decisions may impact Canadian newborn metabolic screening processes.

• Author: Barr, Graham
• Position: Beleno v. Texas Department of State Health Services settlement, Bearder v. Minnesota dismissed case

Introduction

Public trust is fickle. Hard to obtain, even harder to maintain, it can be lost in an instant. From the 1960s onward, the medical community in North America has advocated and implemented a series of tests for newborns to help target, treat and possibly eliminate certain genetic diseases. Newborn metabolic screening (NMS) takes blood drops from a heel poke of an infant, collected on filter paper, which is then sealed when dry. Samples are sent to centralized laboratories where they undergo a battery of tests including mass spectrometry and DNA microarray technology. Such advanced testing is said to help identify dozens of potentially dangerous genetic abnormalities that could affect the future health of a child. (1) What has placed NMS practices in many countries at odds with public perception, however, is what health authorities do with the dried blood spots (DBS) after the screening is completed. Samples are routinely stored for at least one year after testing to ensure there is a specimen available for re-testing if necessary and for on-going quality assurance/quality control of the tests being performed (2). Members of the public and privacy advocates have expressed concern about the longer term non-consensual retention of DBS for secondary uses such as research. (3) The collection and storage of DBS gives rise to tissue repositories or biobanks. Such collections raise numerous ethical questions, including issues related to access, informed consent and privacy. Canadian jurisdictions have yet to legislate on the practice of DBS retention and secondary use of stored DBS. The first legal challenge to DBS retention in Canada was initiated in British Columbia in May 2010 (4) and this case will provide an opportunity to address unsettled issues. This paper provides an overview of the NMS programs and DBS storage practices in Canada. This summary provides a foundation for a discussion of the legal and ethical dilemmas raised by the creation of DBS biobanks. Recent American cases of Beleno v. Texas Department of State Health Services (5) and Bearder v. Minnesota (6) groundbreaking precedents concerning the collection of DBS, are incorporated into a larger discussion related to the probable outcome of similar legal arguments in Canadian jurisprudence.

Up until a decade ago, little was known of the retention and storage practices for DBS. With the exponential growth of genetic research worldwide, however, the demand for tissue samples, including DBS, has risen. (7) Biobanks and the millions of infant DNA samples contained within them are said to represent an enormous potential resource for scientific study. In a 2002 workshop, the US Centers for Disease Control and Prevention commented on the importance of access to DBS: "leftover DBS specimens are a unique, valuable population-based source for important public health surveillance and potential epidemiologic research." (8) However, privacy advocates and concerned citizens have seized upon the fact that there is a noted absence of regulatory policy or legal instrument in Canada that controls the retention and dissemination of stored DBS. (9) Such concerns have been distilled into constitutional and legal challenges, discussed in more detail below. (10)

Newborn Screening Programs

In Canada, where NMS is an integral part of the public health program, there is currently no legislation that directly regulates the collection, retention and secondary use of DBS. NMS programs in North America have been implemented by governments as public health initiatives and have progressed over 50 years to become a part of routine, preventive medicine. As such, NMS programs are not required to obtain explicit consent from the parents of newborns for the collection and retention of DBS. (11) The justification for NMS programs is evidenced through the early detection of life threatening genetic conditions in newborns which, in turn, provides a direct benefit to newborns while posing minimal risk of harm. As Bartha Knoppers states, "[I]n newborn screening programs, consent is presumed and justified on the basis that when a disease is treatable, a newborn has a right to be screened and to be treated." (12) Furthermore, as Claude Laberge et al. note, "[C]onsent is presumed because it is defined in term of the best interest of the child and of society." (13) Their view aligns closely with that of the World Health Organization (WHO), which believe NMS programs should be mandatory if there is benefit to the newborn. (14) Therefore, it can be adduced that, from a governmental stance, there is an overriding interest in favour of the child to maintain NMS programs. That is not to say that parents are not informed about NMS programs but that countries like Canada "have opted for the presumed consent model where parents are invited to sign admission papers and consent to NBS as part of routine paediatric procedures when they arrive at the hospital at the time of delivery." (15)

The Alberta Newborn Metabolic Screening Program, based on the NMS program in the Province of Ontario, is not grounded in statute. Run under the auspices of the Chief Medical Officer of Health, the Alberta NMS program currently operates with a primary goal of monitoring quality assurance. (16) This focus directs health care providers to undertake the NMS programs as a means of disease surveillance. Arguably, this surveillance is undertaken at the behest of the Chief Medical Officer under the provisions of Section 15(1) of the Public Health Act; (17) however, the regulatory provisions of the Alberta NMS program are currently contained in the Public Health Act's Standards and Guidelines, a draft document created in 2000, and have yet to be codified. Such is the trend across Canada as the majority of provinces and territories still do not have legislation specifically mandating newborn screening in Canada. (18) Furthermore, the storage and use of residual DBS are not governed under any Canadian legislation. (19) Arguably, the government's retention of DBS has gone largely unnoticed by the public until recently. (20) As NMS programs "are part of mandated pediatric norms" health care workers throughout Canada have not been required to obtain explicit consent from parents for the collection of DBS. (21) Alberta, like its provincial counterparts, continues to operate within a presumed consent model whereby consent is granted by parents through acknowledgment of NMS "as a part of routine pediatric procedures when they arrive at the hospital at the time of delivery". (22) While the importance of NMS is not in doubt, (23) the storage and secondary use of DBS has become a potential maelstrom of legal, social and political unrest.

Recent Legal Challenges

On March 12, 2009, five parents in Texas filed a lawsuit against the Texas Department of State Health Services (DHS). In Beleno v. Texas Dept. of State Health Serv. (24), the parents claim that the DHS broke both state and federal law when the health authorities failed to obtain the plaintiffs' consent for the collection, retention and secondary use of DBS during the legally mandated newborn screening program process. Although Texas legislation is being amended to deal with the specific issues of parental consent and secondary uses (25), the claim in Beleno dealt with the period of time in which there was no legislative instrument. After a failed attempt to have the case dismissed...