Notice2025-23573
Addition of Duchenne Muscular Dystrophy to the Recommended Uniform Screening Panel
Primary source
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Published
December 22, 2025
Issuing agencies
Health and Human Services DepartmentHealth Resources and Services Administration
Abstract
HRSA published a Federal Register notice on August 14, 2025 (90 FR 39197), requesting comments from the public on the potential recommendation of adding Duchenne Muscular Dystrophy (DMD) to the Recommended Uniform Screening Panel (RUSP). After consideration of public comments and evidence-based reports, HRSA recommended to the HHS Secretary that DMD be added to the RUSP. The Secretary has accepted the recommendation as detailed in this notice. Conditions listed on the RUSP are part of the evidence-informed preventive health guidelines supported by HRSA for infants, children, and adolescents. Non- grandfathered group health plans and health insurance issuers are required to cover screenings included in these HRSA-supported comprehensive guidelines without cost-sharing (e.g., copayment, co- insurance, etc.). Please see the RUSP (https:// newbornscreening.hrsa.gov/about-newborn-screening/recommended-uniform- screening-panel) for additional information.
Full Text
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<title>Federal Register, Volume 90 Issue 243 (Monday, December 22, 2025)</title>
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[Federal Register Volume 90, Number 243 (Monday, December 22, 2025)]
[Notices]
[Pages 59840-59841]
From the Federal Register Online via the Government Publishing Office [<a href="http://www.gpo.gov">www.gpo.gov</a>]
[FR Doc No: 2025-23573]
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DEPARTMENT OF HEALTH AND HUMAN SERVICES
Health Resources and Services Administration
Addition of Duchenne Muscular Dystrophy to the Recommended
Uniform Screening Panel
AGENCY: Health Resources and Services Administration, Department of
Health and Human Services (HHS).
ACTION: Notice.
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SUMMARY: HRSA published a Federal Register notice on August 14, 2025
(90 FR 39197), requesting comments from the public on the potential
recommendation of adding Duchenne Muscular Dystrophy (DMD) to the
Recommended Uniform Screening Panel (RUSP). After consideration of
public comments and evidence-based reports, HRSA recommended to the HHS
Secretary that DMD be added to the RUSP. The Secretary has accepted the
recommendation as detailed in this notice. Conditions listed on the
RUSP are part of the evidence-informed preventive health guidelines
supported by HRSA for infants, children, and adolescents. Non-
grandfathered group health plans and health insurance issuers are
required to cover screenings included in these HRSA-supported
comprehensive guidelines without cost-sharing (e.g., copayment, co-
insurance, etc.). Please see the RUSP (<a href="https://newbornscreening.hrsa.gov/about-newborn-screening/recommended-uniform-screening-panel">https://newbornscreening.hrsa.gov/about-newborn-screening/recommended-uniform-screening-panel</a>) for additional information.
FOR FURTHER INFORMATION CONTACT: CDR Leticia Manning, Newborn Screening
Team Lead, Division of Services for Children with Special Health Needs,
Maternal and Child Health Bureau, HRSA, 5600 Fishers Lane, Rockville,
Maryland 20857 or <a href="/cdn-cgi/l/email-protection#82ccc0d1d2f0ede5f0e3eff1c2eaf0f1e3ace5edf4"><span class="__cf_email__" data-cfemail="abe5e9f8fbd9c4ccd9cac6d8ebc3d9d8ca85ccc4dd">[email protected]</span></a>.
SUPPLEMENTARY INFORMATION: The RUSP is a list of conditions that the
Secretary of HHS recommends for states to screen as part of their state
universal newborn screening (NBS) programs. Conditions on the RUSP are
chosen based on evidence that supports the potential net benefit of
screening, the ability of states to screen for the disorder, and the
availability of effective treatments. Although states ultimately
determine what conditions their NBS program will screen for, it is
recommended that every newborn be screened for all conditions on the
RUSP. Conditions listed on the RUSP are part of the comprehensive
preventive health guidelines supported by HRSA for infants and children
under section 2713 of the Public Health Service Act. Non-grandfathered
group health plans and health insurance issuers are required to cover
screenings included in these HRSA-supported comprehensive guidelines
without charging a co-payment, co-insurance, or deductible for plan
years beginning on or after the date that is 1 year from the
Secretary's adoption of the condition for screening.
The Advisory Committee on Heritable Disorders in Newborns and
Children (ACHDNC), now inactive, was tasked with reviewing available
scientific evidence and then making recommendations to the Secretary of
HHS regarding what conditions should be on the RUSP. When a condition
was nominated, ACHDNC determined whether there is sufficient evidence
available for early screening and refers it to the ACHDNC's Evidence
Review Group (ERG). The ERG was responsible for identifying and
assessing all available evidence and summarizing for ACHDNC the
strength and effectiveness of the evidence found on the net benefit of
screening, the ability of states to screen for the condition, and the
availability of effective treatments. The ERG completed an evidence
review for DMD. Following the completion of the evidence review for
DMD, but prior to issuing a recommendation to the Secretary on the
inclusion of DMD to the RUSP, ACHDNC was terminated.
DMD is a rare genetic condition that causes progressive muscle
weakness and degeneration. Individuals eventually require a wheelchair
for mobility and have a shortened lifespan. There are Food and Drug
Administration-approved treatments which allow children to walk longer
before needing a wheelchair and extend heart and lung functions.
Summary of Public Comments
A Federal Register notice sought public comment on the potential
recommendation of including or not including DMD on the RUSP. HRSA
requested that the respondents consider the ERG's report summary on DMD
and the suitability of state NBS programs screening for DMD within the
newborn period in their response. HRSA considered all public comments
as part of its deliberate process along with review of the completed
DMD evidence review report prior to making a recommendation to the
Secretary of HHS. A total of 379 respondents commented on the inclusion
of DMD on the RUSP. Of these, 366 responses (97 percent) expressed
support to add DMD to the RUSP and 11 responses (3 percent) opposed its
addition. The responses in support of or against adding DMD to the RUSP
are summarized below.
Comments on Adding DMD to the RUSP
Ninety-seven percent of commenters (366 comments) were in favor of
adding DMD to the RUSP. A variety of stakeholders, including clinicians
and families, described benefits and reasons in support of adding DMD
to the RUSP. A vast majority of respondents commented that by adding
DMD to the RUSP, families may receive a DMD diagnosis sooner enabling
access to early intervention, support services, and more treatment
options. Families expressed the invaluable benefit of receiving an
earlier diagnosis for their child to reduce the diagnostic odyssey due
to an unknown diagnosis through progressive symptoms and the negative
impacts it causes to the family's overall well-being and mental health.
Families with multiple children shared that knowledge of the first
child having DMD, enabled them to better prepare for, identify, and
treat subsequent children with DMD leading to improved health outcomes.
Other comments emphasized that if DMD is added to the RUSP, state
adoption to screen for DMD will swiftly follow allowing for researchers
to conduct population-level analyses of treatment efficacy.
Three percent of commenters (11 comments) were against adding DMD
to the RUSP. One commenter noted that there is a high rate of false
positives of the screening test which can lead to uncertainty/worry
before confirmation of a negative result and there are unclear cutoff
thresholds for positive/negative results. However, the screening test
can have additional steps included on the same bloodspot prior to
confirmatory testing, or by implementing DNA analysis, that would
reduce the false positive rate.
Additional comments highlighted the lack of data that supports
treatment during the newborn period is beneficial for the infant. As
noted in the evidence-based review (<a href="https://publications.aap.org/pediatrics/article/doi/10.1542/peds.2025-073192/203177/Evidence-Regarding-Duchenne-Muscular-Dystrophy?autologincheck=redirected">https://publications.aap.org/pediatrics/article/doi/10.1542/peds.2025-073192/203177/Evidence-Regarding-Duchenne-Muscular-Dystrophy?autologincheck=redirected</a>),
treatment may improve outcomes for DMD with additional studies needed
to
[[Page 59841]]
establish the timing of treatment. Identification of DMD in an infant
would allow early monitoring to initiate treatment prior to the onset
of substantial physical decline.
The final comments against adding DMD noted a lack of public health
laboratory resources to pay for multi-tier molecular screening.
However, HRSA notes that adding a condition to the RUSP does not
require states to implement screening for conditions immediately.
States determine their resource allocations for NBS screening based on
their specific state budget and public health priorities.
After consideration of the evidence review report and public
comments, no changes were made to the recommendation and HRSA
recommended to the HHS Secretary that DMD be included for addition to
the RUSP.
Acceptance of Recommendation
On December 16, 2025, the HHS Secretary accepted HRSA's
recommendation. The RUSP is updated and can be accessed at the
following link: <a href="https://mchb.hrsa.gov/programs/newborn-screening">https://mchb.hrsa.gov/programs/newborn-screening</a>.
Thomas J. Engels,
Administrator.
[FR Doc. 2025-23573 Filed 12-19-25; 8:45 am]
BILLING CODE 4165-15-P
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