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.
- 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.
- 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:
- 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.
- 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.
- 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.
- 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:
-
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).
-
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.
-
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.
-
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.
-
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.
-
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:
-
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.
-
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.
-
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.
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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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