THE SOCIETY FOR INHERITED METABOLIC DISORDERS

Policy Statement: Newborn Screening and Storage and Use of Residual Newborn Screening Blood Spots

23 March, 2011

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The Society for Inherited Metabolic Disorders (SIMD) is the organization of professionals involved in diagnosis, treatment and study of inborn errors of metabolism. We are the health care providers in the clinics and in the laboratories that identify and care for those who are affected with inborn errors of metabolism. Our members also include the scientists who work on improving our understanding of inborn errors of metabolism to develop better testing and treatment. Members of our society are the leaders who have developed newborn screening and the therapies to treat conditions detected by screening. We provide the care that saves lives and prevents mental retardation and other disabilities when a baby is detected by newborn screening to have a treatable inborn error of metabolism. We also provide health care for those who have irreversible problems when inborn errors of metabolism were not or could not be detected by newborn screening, and work to develop improvements in newborn screening so that future generations can be protected as we are now able to protect those with conditions that can be detected and treated by current technology. We know the benefits of newborn screening when it works, and the devastating impact on baby and family in the absence of effective newborn screening and treatment.

The SIMD strongly supports mandated screening of all neonates for genetic and non-genetic conditions as recommended by the Secretary’s Advisory Committee on Heritable Diseases in Newborns and Children to ensure early management and long-term treatment and follow up of affected newborns and their families. Newborn screening and follow up diagnosis and treatment has been a success for decades, saving lives and preventing mental retardation and cerebral palsy. Newborn screening is a standard of care for all babies. All babies need newborn screening to keep them safe, just as all babies need periodic physical examination that can reveal conditions needing treatment, and blood tests screening for anemia and lead poisoning that are routinely done at appropriate ages

Blood spot newborn screening is a system that includes collection of a sample, testing of the sample to see if the baby needs additional evaluation, quality control activities in the laboratory, short-term follow up to ensure that at-risk babies are found and have diagnostic testing, and long-term follow up including treatment of affected babies as well as the tracking and continual quality assessment and improvement activities that ensure high quality laboratory testing and effective treatment for affected babies. Public health programs have successfully taken responsibility to ensure that babies are tested in a timely fashion so that treatment can be started promptly to prevent death and disability.

Residual newborn blood spot samples are essential to ongoing quality control and improvement activities. Separate from their use for quality and safety improvement in the laboratory, newborn blood spots are also an important resource for population-based research, including research to improve newborn screening. Current public concerns about the storage and use of residual samples are leading to review and revision of policies and practices in many States and programs. In some cases, new proposed policies for storage and use of residual specimens are threatening the screening process, and thereby threatening lives of babies and families. The SIMD supports transparency of public policy, education of parents and providers about newborn screening, and responsible management of residual samples, and strongly opposes any policy that will lead to death and disability that could have been prevented. In order that all babies are able to benefit from NBS, we recognize the critical importance of public trust in the institutions involved in NBS and in storage of these specimens. The following specific key points should be kept in mind in review and development of laws, policies and practices in newborn screening.

  1. Since failure to screen a baby for treatable conditions leads to death and disability that could have been prevented, the SIMD does NOT support an “opt-in” for newborn screening. Requiring affirmative consent for routine care is not appropriate, especially as it will increase the number of babies who are not screened or who have delayed screening, and thereby increase the rate of death and disability. Furthermore, the SIMD believes that any state that permits “opt-out” of newborn screening has a responsibility to educate parents about the benefits of newborn screening and the risks to baby of not screening. States that permit “opt-out” must ensure that any parent who elects to refuse newborn screening must clearly demonstrate their understanding that this choice can result in their baby’s death or disability. An open question is who is assigned or will accept responsibility and liability for adequately educating parents so that any refusal of newborn screening is informed. The potential for litigation if there is a poor outcome for a baby may be significant and needs to be considered in costs of program.

  2. The SIMD supports retention and long-term storage of residual newborn screening (NBS) specimens by state NBS programs under safe and secure conditions. Properly stored residual NBS specimens represent a significant resource for the baby and for the family as well as society, for the following reasons:
    1. The NBS specimen is often the only specimen left following an unexpected death. Residual specimens have repeatedly proven to be of immense value by allowing the establishment of a specific diagnosis through retrospective analysis. This allows for proper counseling and evaluation of impacted families, including identification of others affected within a family, leading to prevention of disabilities and possible death of additional family members.
    2. Residual NBS specimens from affected and unaffected neonates allow improvement of current screening strategies by the development and validation of new analytical methods that can replace current assays or be added as second-tier assays to improve screening specificity and reduce false positive rates. With the expansion of NBS programs over the last decade, the containment of false positive rates without reduction of test sensitivity is crucial. NBS improvements not only reduce the number of families undergoing the emotional stress of being subjected to follow up testing when the NBS result proves to be false positive, but also save our health care system the cost of the investigations needed to rule out the suspected disorder.
    3. Leftover NBS specimens from affected and unaffected neonates enable the development and validation of testing strategies for additional conditions considered for inclusion into NBS programs. With several state NBS programs already required to add up to five lysosomal storage disorders to their programs, it is essential to determine the most efficient screening strategy for these conditions. Undoubtedly, additional assays will be necessary both for positive identification of affected patients and for prediction of prognosis. This information is needed to determine treatment decisions – especially critical, for example, when NBS is positive for a lysosomal disorder for which treatment is an invasive bone marrow transplant or enzyme replacement therapy.

  3. The SIMD believes that NBS programs should have detailed policies regulating the length and conditions of storage of leftover NBS specimens as well as access to these specimens for research and test development, and that all policies should be easily accessible by the public. While we believe that residual specimens should be stored for a generation with identification for maximal benefit to the individual baby, family and society, we recognize that not all states will adopt this plan. We also recognize that the public does not in general have a thorough understanding of the process of laboratory testing, the definitions of human research and the protections generally in place for both. As a result, we believe that several points need to be better understood:

    1. Storage of identified residual specimens is not solely for the purpose of research – it can have direct benefit to the child and family; therefore, storage of specimens (which should not require formal informed consent) must be considered separately from possible research usage of specimens (which may require formal informed consent).
    2. Quality assurance activities involve the use of residual specimens and are essential to the integrity of testing for the individual and for the system. These activities are not considered research.
    3. All human subjects research in the United States, including research on residual stored specimens, is governed by federal regulations. It should be emphasized that under these regulations, while research use of properly de-identified specimens is not considered research on human subjects, it is still required that Human Subjects Protections Committees (typically called Institutional Review Boards) are required to review all research to be sure that rights of any human subjects are protected before research may proceed.
    4. While some uses of stored specimens depend on maintenance of original identification, many research uses can be carried out effectively on properly de-identified specimens.
    5. While we are aware of concern for the possible use of residual stored specimens by law enforcement or insurance companies or others, a properly de-identified specimen has no value to such an entity as there is no link to establish identity for any legal purpose. Further, the SIMD strongly encourages and supports educational efforts to alleviate the public concern regarding privacy issues. State and federal governments should enact rules and regulations that restrict law-enforcement, or other agencies or organizations, access to identifiable stored specimens for any purpose other than NBS testing, validation and quality assurance, and other basic public health activities or IRB approved human research, without specific informed consent of the parents or the individual.

  4. With these points emphasized, the SIMD agrees that in an ideal system there should be a mechanism at the time of the newborn screen initial collection to permit parents/guardians to agree to or to decline future research use of residual specimens. IT SHOULD BE CLEAR THAT RESEARCH IS NOT THE SAME AS SCREENING, QUALITY ASSURANCE OR STORAGE. We do not believe that consent should be required for storage of residual specimens or for programs to improve NBS performance. The SIMD has concern about systems that permit orders for destruction of samples by one parent against the wishes of another parent, and draws attention to other issues that need attention in development of any system for consent for research use or request for destruction of samples:

    1. Screened individuals or their legal guardians should have the right to have their specimens excluded from research studies or de-identified or destroyed at any time after the mandated screening process (incl. quality assurance) has been completed. However, we note that these policies and practices must include a mechanism to ensure that only entitled persons make such requests. Consider, for example, the scenario in which a State Health Department receives a request from a parent to destroy a residual NBS specimen, and later learns that the request came from a non-custodial parent who has stolen the infant, and no specimen is now available to establish identity of the recovered infant. States should develop specific guidelines for documenting how parents identify their status to make the request for destruction and whether both parents permission is required.
    2. Any research use of leftover NBS specimens beyond routine NBS and the results thereof should be clearly documented to the public at a minimum on a publically accessible website of the NBS programs.
    3. Furthermore, the SIMD recommends that states develop policies that allow proactive long-term storage in the special case of specimens from individuals with rare disorders. We understand that not every NBS program has the capacity for long-term storage of all NBS specimens; therefore, the SIMD encourages NBS programs to collaborate with other programs to allow for safe and secure long-term storage of important specimens. This especially applies to specimens of particular clinical interest because the individual was recognized based on NBS or after later diagnosis with a condition that has potential to be screened in the newborn period. States that routinely destroy all specimens after some period of time should develop protocols to permit retention of clinically important specimens or make arrangements to transfer them to another trusted agent to maintain. To develop such a system of storage of residual specimens of particular clinical interest, a number of issues will need to be addressed, including when and how to obtain consent for future research uses of specimens. Policies must ensure that
      • no identified specimen is to be shared for research without explicit consent by the patient or their legal guardians
      • properly de-identified specimens can be provided as controls for test development or test validation studies with consent waived
      • attention must be given to the issue of conservatorship of very small leftover specimens
      These are complicated issues to address and the SIMD suggests formal exploration of the opportunities and concerns that arise from efforts to preserve specimens from known affected individuals. The SIMD will be interested to be part of any such efforts.

  5. Finally, the SIMD also strongly urges that education on newborn screening itself and on residual specimen retention and use must be improved. Education is needed for expectant parents where possible, for parents of newborns in all cases and for health care professionals involved in prenatal care and in care of the newborn after birth.

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