The Florida Senate
BILL ANALYSIS AND FISCAL IMPACT STATEMENT
(This document is based on the provisions contained in the legislation as of the latest date listed below.)
Prepared By: The Professional Staff of the Committee on Health Policy
BILL: SB 524
INTRODUCER: Senator Harrell
SUBJECT: Newborn Screenings
DATE: March 24, 2025
ANALYST STAFF DIRECTOR REFERENCE ACTION
1. Morgan Brown HP Pre-meeting
2. AHS
3. FP
I. Summary:
SB 524 amends s. 383.14, F.S., to require the Florida Department of Health (DOH) to revise its
newborn screening (NBS) rules to require the screening of newborns for Duchenne muscular
dystrophy (DMD) at the appropriate age beginning January 1, 2027.
The bill provides an effective date of July 1, 2025.
II. Present Situation:
The Florida Department of Health
The Florida Department of Health (DOH) is responsible for the state’s public health system,
which must be designed to promote, protect, and improve the health of all people in the state.
1
Newborn Screening
Newborn screening (NBS) is a preventive public health program provided in every state to
identify, diagnose, and manage newborns at risk for selected disorders that, without detection
and treatment, can lead to permanent developmental and physical damage or death. The federal
government produces a standardized list of conditions that it recommends every newborn be
screened for, but each state determines which conditions and screenings to include in its own
NBS program.
2
1
Section 381.001, F.S.
2
Health Resources & Services Administration, Advisory Committee on Heritable Disorders in Newborns and Children,
History of the ACHDNC, available at https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-
disorders/hrsa-timeline-interactive.pdf (last visited Mar. 22, 2025).
REVISED: BILL: SB 524 Page 2
Federal Recommendations for NBS
The U.S. Department of Health and Human Services (HHS) Advisory Committee on Heritable
Disorders in Newborns and Children (Advisory Committee) was established to reduce morbidity
and mortality in newborns and children who have, or are at risk for, heritable disorders. The
Advisory Committee advises the Secretary of HHS on the most appropriate application of
universal NBS tests, technologies, policies, guidelines, and standards.
3
The federal Recommended Uniform Screening Panel (RUSP) is a list of disorders recommended
by the Secretary of HHS, based on advice from the Advisory Committee, for states to screen as
part of their NBS program. The inclusion of a disorder in the RUSP is determined based on
evidence supporting the potential net benefit of screening, the ability of states to screen for the
disorder, and the availability of effective treatments. Adding a condition to the RUSP usually
takes three to four years; it is a multistep process beginning with the submission of a nomination
package for review by the Advisory Committee, which might or might not result in a
recommendation to include the condition in the RUSP. Anyone can nominate a condition for
inclusion by completing a nomination package. The RUSP currently includes screening for
36 core conditions and 26 secondary conditions.
Duchenne muscular dystrophy has been nominated for inclusion in the RUSP but has not been
recommended by Advisory Committee.
4
The Florida NBS Program
The Florida NBS Program was initially established in 1965 to screen newborns for a single
condition, phenylketonuria.
5
The NBS Program has since evolved to screen for a wide range of
congenital conditions. The NBS program is housed within the DOH and serves to promote the
screening of all newborns for metabolic, hereditary, and congenital disorders known to result in
significant impairment of health or intellect.
6
The NBS Program attempts to screen all newborns to identify, diagnose, and manage newborns
at risk for select disorders that, without detection and treatment, can lead to permanent
developmental and physical damage or death.
7
Parents and guardians may decline the
screenings.
8
3
Health Resources & Services Administration, Advisory Committee on Heritable Disorders in Newborns and Children,
available at https://www.hrsa.gov/advisory-committees/heritable-disorders (last visited Mar. 22, 2025).
4
Id.
5
See, Tatiana Wing, R.C. Philips Research and Education Unit, Newborn Screening Update (2020), available at
https://genetics.pediatrics.med.ufl.edu/wordpress/files/2019/11/RCPU-Newborn-screening-update.pdf (last visited Mar. 22,
2025); Watson, S., Lloyd-Puryear, M., & Howell, R. (2022), The Progress and Future of US Newborn Screening,
International Journal of Neonatal Screening, 8:41, available at https://doi.org/10.3390/ijns8030041 (last visited Mar. 22,
2025). Phenylketonuria (PKU) is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the
body resulting in dangerous symptoms unless a specific diet is adhered to. PKU was the first inheritable condition for which
a relatively simple and repeatable blood test was able to be conducted at a high enough throughput to enable population-level
screening.
6
Section 383.14, F.S.
7
Florida Department of Health, Florida Newborn Screening 2022 Protocols (Mar. 15, 2022), available at
https://floridanewbornscreening.com/wp-content/uploads/NBS-Protocols-2022-FINAL.pdf (last visited Mar. 22, 2025).
8
Section 383.14, F.S.; Rule 64C-7.008, F.A.C. The health care provider must attempt to get a written statement of objection
to be placed in the medical record. BILL: SB 524 Page 3
The Florida Genetics and Newborn Screening Advisory Council (GNSAC) advises the DOH on
disorders to be included in Florida’s panel of screened disorders and the procedures for
collecting and transmitting specimens.
9
The Florida NBS Program currently screens for 37 core
conditions and 23 secondary conditions, nearly all of which are screened through the collection
and testing of blood spots. Hearing screening, critical congenital heart disease, and targeted
testing for congenital cytomegalovirus are completed at the birthing facility through point of care
(POC) testing.
10
Under current law, when a new condition is added to the federal RUSP, the GNSAC is required
to consider the condition and make a recommendation to the DOH as to whether the condition
should be included in the state NBS panel within one year.
11
GNSAC reviews the
recommendations to ensure:
12
• The state’s readiness to screen, diagnose, and treat the condition;
• The condition is known to result in significant impairment in health, intellect, or functional
ability if not treated before clinical signs appear;
• The condition can be detected using screening methods accepted by current medical practice;
• The condition can be detected prior to the infant becoming two weeks of age, or at the
appropriate age as indicated by accepted medical practice;
• After screening for the disorder, reasonable cost benefits can be anticipated through a
comparison of tangible program costs with those medical, institutional, and special
educational costs likely to be incurred by an undetected population; and
• When screening for a condition, sufficient pediatric medical infrastructure is available.
The Florida NBS Program involves coordination across several entities, including the Bureau of
Public Health Laboratories NBS Laboratory (state laboratory), the DOH’s Children’s Medical
Services (CMS) NBS Follow-up Program, referral centers, birthing centers, and physicians
throughout the state. Health care providers in hospitals, birthing centers, perinatal centers, county
health departments, and school health programs provide screening as part of the multilevel NBS
Program screening process.
13
Health care providers in hospitals and birthing centers collect drops of blood from the newborn’s
heel on a standardized specimen collection card, which is then sent to the state laboratory for
testing.
14
POC testing is used at the birthing facility to screen for the conditions which cannot be
screened for with blood spot testing: pulse oximetry tests for critical congenital heart defect and
hearing screening to detect hearing loss.
15
9
Supra note 6.
10
Florida Department of Health, 2025 Agency Legislative Bill Analysis, HB 1089 (Mar. 12, 2025) (on file with the Senate
Committee on Health Policy).
11
Supra note 6.
12
Supra note 10.
13
Supra note 6.
14
Florida Department of Health, Florida Newborn Screening Program, What is Newborn Screening?, available at
https://floridanewbornscreening.com/parents/what-isnewborn-screening/ (last visited Mar. 22, 2025). See also, Florida
Department of Health, Florida Newborn Screening, Specimen Collection Card, available at
http://floridanewbornscreening.com/wp-content/uploads/Order-Form.png (last visited Mar. 22, 2025).
15
Florida Department of Health, 2024 Agency Legislative Bill Analysis, HB 499 (Feb. 7, 2024) (on file with the Senate
Committee on Health Policy). BILL: SB 524 Page 4
Screening results are released to the newborn’s health care provider and in the event of an
abnormal result, the baby’s health care provider, or a nurse or specialist from the CMS NBS
Follow-up Program, provides follow-up services and referrals for the child and his or her
family.
16
The DOH is authorized to charge and collect a fee not to exceed $15 per live birth occurring in a
hospital or birth center to administer the NBS Program. The DOH must calculate the annual
assessment for each hospital and birth center and then quarterly generate and mail each hospital
and birth center a statement of the amount due. The DOH bills hospitals and birth centers
quarterly using vital statistics data to determine the amount to be billed. The DOH is authorized
to bill third-party payers for the screening tests and bills insurers directly for the cost of the
screening.
17
The DOH does not bill families that do not have insurance coverage.
18
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD), the most common form of muscular dystrophy, is a
condition that causes skeletal and heart muscle weakness that quickly gets worse with time.
Symptoms usually begin by the age of six years, and the condition mainly affects boys.
Currently, no cure exists, so treatment involves managing symptoms and improving quality of
life.
19
DMD Symptoms
Symptoms of DMD most often appear between the ages of two and four years, though symptoms
can present as early as infancy or be noticed later in childhood. DMD causes muscle weakness
that progressively worsens, so common symptoms include:
20
• Progressive muscle weakness and atrophy (loss of muscle bulk) beginning in the child’s legs
and pelvis.
• Calf muscle hypertrophy (increase in muscle size).
• Difficulty climbing up stairs.
• Difficulty walking that becomes progressively worse.
• Frequent falls.
• Waddling gait.
• Toe walking.
• Fatigue.
• Cardiomyopathy (disease of the heart muscle).
• Breathing difficulties and shortness of breath.
• Cognitive impairment.
• Delayed speech and language development.
16
Id.
17
Section 383.145, F.S.
18
Supra note 6.
19
Cleveland Clinic, Duchenne Muscular Dystrophy (DMD), available at
https://my.clevelandclinic.org/health/diseases/23538-duchenne-muscular-dystrophy-dmd#symptoms-and-causes (last visited
Mar. 22, 2025).
20
Id. BILL: SB 524 Page 5
• Developmental delay.
• Scoliosis (spine curvature).
• Short stature (height).
DMD affects approximately one in 3,600 male live-born infants. About 2.5 to 20 percent of girls
who are DMD carriers may have symptoms that are milder than the typical case.
21
What Causes DMD?
DMD is caused by a change or mutation in the gene that gives instructions for a protein called
dystrophin. Dystrophin is a critical part of the dystrophin-glycoprotein complex (DGC), which
plays an important role as a structural unit of muscle.
22
In DMD, both dystrophin and DGC proteins are missing, which ultimately leads to the death
(necrosis) of muscle cells. People with DMD have less than five percent of the normal quantity
of dystrophin needed for healthy muscles.
23
As an individual with DMD becomes older, the individual’s muscles cannot replace the dead
cells with new ones, and connective and adipose (fat) tissue gradually replaces muscle fibers.
24
DMD has X-linked recessive inheritance, but about 30 percent of cases happen spontaneously
without a family history of the condition. X-linked means the gene responsible for DMD is
located on the X chromosome, one of two sex chromosomes. Males have an X and Y
chromosome, and females have two X chromosomes.
25
Genes, like chromosomes, usually come in pairs. When two copies of the responsible gene exist,
the nature of a recessive inheritance means both copies must have a disease-causing change
(pathogenic variant or mutation) for a person to have the condition. Since males only have one X
chromosome, a male will have DMD if that chromosome has the genetic variant that causes
DMD.
26
DMD Diagnosis and Testing
A health care provider will likely perform a physical, neurological, and muscle exam on a child
experiencing symptoms of DMD, asking detailed questions related to symptoms and medical
history, and order the following tests:
27
• Creatine Kinase (CK) Blood Test – The muscles release CK when damaged, so elevated
levels may indicate DMD. Levels typically peak by age two and can be more than 10 to 20
times above the normal range.
• Genetic Blood Test – A genetic blood test looking for a complete or near-complete absence
of the dystrophin gene can confirm the diagnosis of DMD.
21
Id.
22
Id.
23
Id.
24
Id.
25
Id.
26
Id.
27
Id. BILL: SB 524 Page 6
• Muscle Biopsy – A child’s provider may take a small sample of muscle tissue from a muscle
in the child’s thigh or calf. A specialist will review the sample under a microscope to look for
signs of DMD.
• Electrocardiogram (EKG) – As DMD almost always affects the heart, a child’s provider will
likely perform an EKG to look for characteristic signs of DMD and to check the health of the
child’s heart.
DMD Management and Treatment
Currently, there is no cure for DMD, so the main goal of treatment is to manage symptoms and
improve quality of life. Supportive therapies for DMD include:
28
• Corticosteroids – Corticosteroids, such as prednisolone and deflazacort, are beneficial for
delaying muscle strength loss, improving lung function, delaying scoliosis, slowing the
progression of cardiomyopathy and prolonging survival.
• Medication to Treat Cardiomyopathy – Early treatment with angiotensin-converting enzyme
(ACE) inhibitors and/or beta-blockers may slow the progression of cardiomyopathy and
prevent the onset of heart failure.
• Physical Therapy – The main goal of physical therapy for DMD is to prevent contractures,
permanent tightening of the muscles, tendons and skin. This usually involves certain
stretching exercises.
• Surgery to Help Treat Scoliosis and Contractures – Surgery to release contractures may be
necessary for severe cases. Surgery to correct scoliosis may improve lung and breathing
function.
• Exercise – A child’s health care provider will likely recommend gentle exercise to avoid
muscle atrophy due to lack of use. This is usually a combination of swimming and
recreation-based exercises.
• Mobility Aids – Braces, canes, wheelchairs, etc.
• Tracheostomy and Assisted Ventilation for Respiratory Failure.
With improvement in supportive care, the life expectancy of DMD has significantly improved
over the past few decades. There are also many new drugs currently undergoing clinical testing
that show promise in treating DMD. Some newer treatments employing “exon skipping”
(patching over a missing or mutated part of the dystrophin gene) have recently received federal
Food and Drug Administration (FDA)
29
approval. These treatments are applicable only to a
minority of cases with specific mutations. Although these treatments increase dystrophin protein
amount in muscle, meaningful gain in strength and physical function has not yet been shown.
30
28
Id.
29
The FDA is responsible for protecting the public health by assuring the safety, efficacy, and security of human and
veterinary drugs, biological products, medical devices, our nation's food supply, cosmetics, and products that emit radiation.
The FDA also provides accurate, science-based health information to the public. USAGov, Food and Drug Administration
(FDA), available at https://www.usa.gov/agencies/food-and-drug-
administration#:~:text=The%20Food%20and%20Drug%20Administration,and%20products%20that%20emit%20radiation.
(last visited Mar. 22, 2025).
30
Supra note 19. BILL: SB 524 Page 7
DMD Prevention and NBS
As DMD is an inherited condition, there is no prevention and about a third of cases occur
randomly without a family history of the condition.
31
Genetic counseling is an option that exists
to provide information to concerned families about how genetic conditions affect the family,
determining the risk for developing or passing on certain conditions.
32
In some situations,
prenatal testing may be able to diagnose DMD in early pregnancy.
33
NBS has been proposed as a method for ensuring early diagnosis of DMD. Advocates for NBS
for DMD point to evidence suggesting that emerging DMD therapies might prove to be most
effective if initiated before the onset of symptoms.
34,35
Furthermore, delayed diagnosis of DMD
leads to lost opportunities for genetic counseling, implementation of appropriate standards of
care, access to newly approved disease-modifying medications, and participation in clinical
trials. However, there are ethical, legal, and social concerns related to the development and
implementation of NBS for DMD. These concerns include the limited treatment options
available, whether both males and females should be screened, and the high rate of false-
positives resulting from the first-tier diagnostic test.
36
NBS for DMD has been adopted in several states; it has been implemented in Minnesota and
Ohio, and New York and Massachusetts are in the planning phases.
37
The method of screening is
similar to the conventional diagnostic method for suspected cases of DMD. A blood spot test is
conducted to measure CK levels, followed by a confirmatory genetic test. One of the primary
concerns with this screening method is the relatively high frequency of elevated CK levels in
newborns that are unrelated to DMD, leading to false positives and unnecessary genetic testing.
38
RUSP Nomination Not Approved
DMD was nominated for inclusion in the RUSP by the Parent Project Muscular Dystrophy
39
and
the Muscular Dystrophy Association.
40
The process began in February 2023, but a pause in the
review process was requested by the nominators after the Advisory Committee determined there
31
Id.
32
Cleveland Clinic, Genetic Counseling, available at https://my.clevelandclinic.org/health/articles/23086-genetic-counseling
(last visited Mar. 22, 2025).
33
Supra note 19.
34
Birnkrant, D. J., Bushby, K., Bann, C. M., Apkon, S. D., Blackwell, A., Brumbaugh, D., Case, L. E., Clemens, P. R.,
Hadjiyannakis, S., Pandya, S., Street, N., Tomezsko, J., Wagner, K. R., Ward, L. M., Weber, D. R., & DMD Care
Considerations Working Group (2018), Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and
neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management, The Lancet, Neurology, 17(3),
251–267, available at https://doi.org/10.1016/S1474-4422(18)30024-3 (last visited Mar. 22, 2025).
35
Parent Project Muscular Dystrophy, Newborn Screening Action Center, available at
https://www.parentprojectmd.org/advocacy/newborn-screening-action-center/ (last visited Mar. 22, 2025).
36
Thomas, S., Conway, K. M., Fapo, O., Street, N., Mathews, K. D., Mann, J. R., Romitti, P. A., Soim, A., Westfield, C.,
Fox, D. J., Ciafaloni, E., & Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) (2022), Time
to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance,
Tracking, and Research Network, 2000-2015, Muscle & nerve, 66(2), 193–197, available at
https://doi.org/10.1002/mus.27532 (last visited Mar. 22, 2025).
37
Supra note 35.
38
Supra note 34.
39
Parent Project Muscular Dystrophy, available at https://www.parentprojectmd.org/ (last visited Mar. 22, 2025).
40
Muscular Dystrophy Association, available at https://www.mda.org/ (last visited Mar. 2, 2025). BILL: SB 524 Page 8
was insufficient evidence to move forward and requested additional information regarding the
diagnostic process and clinical utility.
41
The RUSP is largely restricted to neonatal-onset
disorders for which early treatment shows improved outcome. DMD differs from the majority of
conditions included on the RUSP because onset does not occur until later in childhood.
42
III. Effect of Proposed Changes:
Section 1 amends s. 383.14, F.S., to require the DOH to adopt and enforce rules requiring every
newborn in the state to be screened for DMD at the appropriate age beginning January 1, 2027.
Section 2 provides an effective date of July 1, 2025.
IV. Constitutional Issues:
A. Municipality/County Mandates Restrictions:
None.
B. Public Records/Open Meetings Issues:
None.
C. Trust Funds Restrictions:
None.
D. State Tax or Fee Increases:
None.
E. Other Constitutional Issues:
None.
V. Fiscal Impact Statement:
A. Tax/Fee Issues:
None.
41
U.S. Department of Health and Human Services, Advisory Committee on Heritable Disorders in Newborns and Children,
Chair Letter to DMD Nominators (2023), available at https://www.hrsa.gov/sites/default/files/hrsa/advisory-
committees/heritabledisorders/resources/chair-letter-dmd-nominators.pdf (last visited Mar. 22, 2025); Health Resources &
Services Administration, Summary of Nominated Conditions to the Recommended Uniform Screening Panel (2024), available
at https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/rusp/summary-nominated-
conditions.pdf (last visited Mar. 22, 2025).
42
Supra note 34. BILL: SB 524 Page 9
B. Private Sector Impact:
None.
C. Government Sector Impact:
The DOH estimates a total cost of approximately $2.7 million ($2.6 million recurring and
$100,000 nonrecurring) to implement the provisions of the bill.
43
VI. Technical Deficiencies:
None.
VII. Related Issues:
None.
VIII. Statutes Affected:
This bill substantially amends section 383.14 of the Florida Statutes.
IX. Additional Information:
A. Committee Substitute – Statement of Changes:
(Summarizing differences between the Committee Substitute and the prior version of the bill.)
None.
B. Amendments:
None.
This Senate Bill Analysis does not reflect the intent or official position of the bill’s introducer or the Florida Senate.
43
Supra note 10.