Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, 21645-21647 [2010-9625]

Agencies

• DEPARTMENT OF HEALTH AND HUMAN SERVICES
• Health Resources and Services Administration

[Federal Register Volume 75, Number 79 (Monday, April 26, 2010)]
[Notices]
[Pages 21645-21647]
From the Federal Register Online via the Government Printing Office [www.gpo.gov]
[FR Doc No: 2010-9625]


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DEPARTMENT OF HEALTH AND HUMAN SERVICES

Health Resources and Services Administration


Secretary's Advisory Committee on Heritable Disorders in Newborns 
and Children

AGENCY: Health Resources and Services Administration (HRSA), HHS.

ACTION: Request for public comment on a Secretary's Advisory Committee 
on Heritable Disorders in Newborns and Children's commissioned report: 
Considerations and Recommendations

[[Page 21646]]

for National Guidance Regarding the Retention and Use of Residual Dried 
Blood Spot Specimens after Newborn Screening.

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SUMMARY: The Secretary's Advisory Committee on Heritable Disorders in 
Newborns and Children (SACHDNC) was established under Section 1111 of 
the Public Health Service (PHS) Act, 42 U.S.C. 300b-10, as amended in 
the Newborn Screening Saves Lives Act of 2008 (Act). The SACHDNC is 
governed by the provisions of the Federal Advisory Committee Act 
(FACA), as amended (5 U.S.C. App.), which sets forth standards for the 
formation and use of advisory committees. The SACHDNC provides advice 
to the Secretary about aspects of newborn and childhood screening and 
technical information for the development of policies and priorities 
that will enhance the ability of the State and local health agencies to 
provide for newborn and child screening, counseling and health care 
services for newborns and children having or at risk for heritable 
disorders.
    The changing dynamics of emerging technology and the complexity of 
genetics require an assessment of the state of the art in newborn 
screening and a perspective on the future directions such programs 
should take. Newborn screening is a highly successful public health 
program that identifies rare genetic, congenital and functional 
disorders, ensures early management and endeavors to ensure follow-up 
for those affected. Each State has a law that either requires or allows 
newborn screening and States are responsible for oversight and 
implementation of their respective newborn screening program. State 
newborn screening policies are usually developed with input from multi-
disciplinary advisory committees that include consumers, health care 
and public health professionals and other interested stakeholders. 
While State administration of newborn screening programs fosters local 
control and accountability, it also gives rise to wide variation in 
practices across the country, including disparate policies on the 
retention and use of dried blood spot specimens after newborn screening 
has been finished. Given the tremendous potential to advance science 
and clinical care for newborns, children and their families through the 
use of residual newborn screening blood specimens, the SACHDNC calls 
upon policymakers, the public health community, health care providers 
and families to work together to protect this valuable resource for the 
public good.
    This notice is designed to review the issues facing State newborn 
screening programs related to the retention and use of residual newborn 
screening specimens. It will lay the foundation for developing national 
guidance to States in this area, and encourage an approach to future 
policymaking that enables residual specimens use to advance science and 
clinical care for newborns, children and their families. The core 
principles of protecting patient privacy, confidentiality and ensuring 
public trust are at the core of these recommendations.
    Because newborn screening is the only public health screening 
program that reaches the entire population of newborns in the U.S., it 
is unique, and the processes surrounding it must be thoughtfully 
approached. Residual blood specimens provide an excellent opportunity 
for storage in a biobank for approved research uses after screening and 
validating are complete. However, at the present time, research is a 
secondary purpose that may not be adequately addressed in some existing 
State laws or policies. Newborn screening programs should approach the 
use of residual specimens carefully, anticipating both the potential 
benefits and risks.
    The SACHDNC believes that national guidance on the retention and 
use of residual newborn screening specimens for research would help 
States to navigate these complex issues. To assist in this process, the 
SACHDNC makes the following recommendations to the Secretary of the 
Department of Health and Human Services (HHS) and requests action by 
the Secretary where applicable:
    (1) All State newborn screening programs should have a policy in 
place that has been reviewed by the State attorney general or other 
appropriate legal authority addressing the disposition of dried blood 
specimens remaining after newborn screening. Policymakers should 
consider the value of the specimens as a promising resource for 
research, the importance of protecting the privacy and confidentiality 
of families and the necessity of ensuring the public's trust.
     The policy should specify appropriate use and storage 
after the completion of newborn screen testing and verification 
according to laboratory Quality Assurance (QA) procedures. Parties 
responsible for drafting the policy should consider whether consent or 
dissent from families is necessary for uses other than newborn 
screening and, if so, under what circumstances. Multidisciplinary 
input, including from consumers, should be solicited and thoughtfully 
considered in developing such a policy. The specimen disposition policy 
should include the length of time for which specimens will be stored 
and storage conditions. Compliance with storage processes included in 
NCCLS/CLSI Standard LA4-A5 or its current edition is recommended 
(Clinical and Laboratory Standards Institute (CLSI). Blood collection 
on filter paper for newborn screening programs; approved standard--
fifth edition. CLSI document LA4-A5. Wayne, PA: Clinical and Laboratory 
Standards Institute; 2007.) Any data linkages should be carefully 
addressed, and privacy and confidentiality should be ensured.
    (2) All State newborn screening programs should have a policy in 
place that has been reviewed by the State attorney general or other 
appropriate legal authority that specifies who may access and use dried 
blood specimens once they arrive at the State-designated newborn 
screening laboratory, including further access after newborn screening 
tests are completed.
     Multidisciplinary input, including from consumers, should 
be solicited and thoughtfully considered in developing such a policy. 
The specimen access policy should address any uses prior to and after 
the newborn screening laboratory testing and validation process. 
Policies that permit the approved use of dried blood spot specimens for 
purposes other than newborn screening should address handling and 
disposition of the specimen and measures to protect the privacy and 
confidentiality of any associated patient information.
    (3) All State newborn screening programs should develop a well-
defined strategy to educate health care professionals who provide 
patients with pre- and post-natal care about newborn screening and the 
potential use of residual dried blood specimens for research.
     The strategy should include steps to inform and train 
health care professionals about the newborn screening system, the 
State's policy on the potential use of residual newborn screening 
specimens, and their educational responsibilities with respect to 
expectant parents and parents of newborns. Educational programs should 
take steps to educate professionals treating new parents who did not 
have ready access to prenatal care, and, therefore, did not receive 
information about the newborn screening system at that time.
    (4) All State newborn screening programs should work proactively to 
ensure that all families of newborns are

[[Page 21647]]

educated about newborn screening as a part of prenatal and postnatal 
care.
     As part of the educational process, all State newborn 
screening programs should maintain and distribute educationally and 
culturally appropriate information that includes basic information 
about the use or potential use of the residual newborn screening 
specimens. Processes should be in place to evaluate the extent, timing 
and understanding of parental education with an eye towards educational 
program improvement. While prenatal care should serve as the primary 
target of educational programs, they also should be designed to reach 
parents that do not have access to those services and require postnatal 
education about newborn screening. Educational materials should address 
potential uses of residual newborn screening specimens, long-term 
storage policies, procedures for withdrawal of consent, opting-out of 
future research use, requesting the destruction of samples, limitations 
with regard to consent once samples have been distributed for research, 
and information on stewardship of specimens.
    (5) If residual blood specimens are to be available for any purpose 
other than the legally required newborn screening process for which 
they were obtained, an indication of the parents' awareness and 
willingness to participate should exist in compliance with federal 
research requirements, if applicable (45 CFR 46).
     Depending on the purposes for which specimens will be 
used, a parental consent (opt-in) or a dissent (opt-out) process may 
meet this requirement, if necessary, or a waiver of consent may be 
appropriate. The State attorney general or other appropriate legal 
authority should review this process. The use of residual newborn 
screening specimens for program evaluation (e.g., repeat testing as a 
quality check) or process improvement (e.g., non-commercial, internal 
program new test development or refinement) are valid components of the 
public health newborn screening program, and, therefore, should not 
require additional consent. However, once the use of a residual newborn 
screening specimens moves beyond the State mandated uses of program 
evaluation and quality assurance, treatment efficacy and test 
refinement, each State should consider whether separate or blanket 
consent/dissent processes for approved studies is required from 
parents, legal guardians or individuals screened upon the age of 
majority for the use of residual newborn screening specimens.
    (6) Provide administrative support and funding to SACHDNC to:
     Facilitate a national dialogue among federal and State 
stakeholders about policies for the retention and use of residual 
newborn screening specimens, including model consent and dissent 
processes;
     Develop national guidance for consent or dissent for the 
secondary use of specimens and mechanisms to ensure privacy and 
confidentiality, including methods for opting in or out of 
repositories; and
     Collect and analyze national data on the utility of any 
additional consent or dissent processes implemented relative to 
potential research uses of residual newborn screening specimens;
    (7) Provide administrative support and funding to the Health 
Resources and Services Administration Maternal and Child Health Bureau 
to award grants to States to:
     Develop model educational programs for the general public 
on the importance of newborn screening and the potential uses of 
residual newborn screening specimens to generate population-based 
knowledge about health and disease; and
     Create educational materials directed to health care 
professionals and consumers with facts about potential uses of residual 
newborn screening specimens and other related issues, including those 
outlined in recommendation (Jinks DC, Minter M, Tarver DA, Vanderford 
M, Hejtmancik JF, McCabe ER. Molecular genetic diagnosis of sickle cell 
disease using dried blood specimens on blotters used for newborn 
screening. Hum Genet. 1989 Mar; 81(4):363-).
    SACHDNC is now seeking public comments on the report and its 
recommendations.

DATES: The public is encouraged to submit written comments on the 
report and its recommendations by June 25, 2010.

ADDRESSES: The following mailing address should be used: Maternal and 
Child Health Bureau, Health Resources and Services Administration, 5600 
Fishers Lane, Parklawn Building, 18A-19, Rockville, MD 20857. HRSA/
MCHB's facsimile number is 301-480-1312. Comments can also be sent via 
e-mail to screening@hrsa.hhs.gov. All public comments received will be 
available for public inspection at MCHB/HRSA's office between the hours 
of 8:30 a.m. and 5 p.m.

FOR FURTHER INFORMATION CONTACT: Questions about this request for 
public comment can be directed to Michele Lloyd-Puryear, MD, PhD, by e-
mail (screening@hrsa.hhs.gov). The report will be posted on SACHDNC's 
Web site at https://www.hrsa.gov/heritabledisorderscommittee/.

    Dated: April 20, 2010.
Mary K. Wakefield,
Administrator.
[FR Doc. 2010-9625 Filed 4-23-10; 8:45 am]
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