Download Assembly Health

SB 1095
Page 1
Date of Hearing: June 21, 2016
ASSEMBLY COMMITTEE ON HEALTH
Jim Wood, Chair
SB 1095 (Pan) – As Amended May 31, 2016
SENATE VOTE: 39-0
SUBJECT: Newborn screening program.
SUMMARY: Requires the Department of Public Health (DPH) to expand statewide screening
of newborns to include screening for any disease that is detectable in blood samples as soon as
the disease is adopted by the federal Recommended Uniform Screening Panel (RUSP).
EXISTING LAW:
1) Requires DPH to establish a genetic disease unit to coordinate all DPH programs in the area
of genetic disease that will promote a statewide program of information, testing, and
counseling services and to have the responsibility of designating tests and regulations to be
used in executing this program and to have the responsibility of designating tests and
regulations to be used in executing the California Newborn Screening Program (CNSP).
2) Requires DPH to provide genetic screening and follow-up services. Allows DPH to provide
laboratory (lab) testing facilities or work with qualified outside labs to conduct testing.
3) Requires DPH to charge a fee for newborn screening and follow-up services, and requires the
amount of the fee to be periodically adjusted in order to meet the costs of CNSP.
4) Requires DPH to evaluate and prepare recommendations on the implementation of tests for
the detection of hereditary and congenital diseases, including, but not limited to, biotinidase
deficiency and cystic fibrosis. Requires DPH to also evaluate and prepare recommendations
on the availability and effectiveness of preventative follow-up interventions, including the
use of specialized medically necessary dietary products.
5) Requires statewide screening of newborns to include tandem mass spectrometry screening
for fatty acid oxidation, amino acid, and organic acid disorders and congenital adrenal
hyperplasia. Requires screening of newborns to include screening for severe combined
immunodeficiency, as soon as possible.
6) Requires DPH to expand statewide screening of newborns to include screening for
adrenoleukodystrophy (ALD) as soon as ALD is adopted by the federal RUSP.
FISCAL EFFECT: According to the Senate Appropriations Committee:
1) One-time costs of $2.4 million and ongoing costs of $4.3 million per year to screen for two
diseases (MPS-1 and Pompe disease) that have already been approved for inclusion in the
federal RUSP (Genetic Disease Testing Fund). The ongoing costs above would cover initial
screening tests, follow up tests for positive results, and initial case management for
confirmed diagnoses. Adding these two conditions would require an increase in the existing
SB 1095
Page 2
$113 fee charged for screening by about $9. Most health insurance, including Medi-Cal,
cover the costs of the screening fee.
2) Ongoing costs of about $2.5 million per year for coverage of the increased screening fee by
the Medi-Cal program (General Fund and federal funds). Medi-Cal covers the cost of the
screening exam and Medi-Cal pays for about 50% of the births in the state.
3) Unknown future costs to include additional diseases in the state’s newborn screening
program as they are added to the federal RUSP (Genetic Disease Testing Fund). The costs to
include additional diseases will vary depending on the specific costs for testing of that
disease. In recent years, anticipated costs to include additional diseases in the state’s
newborn screening program have generally been in the low millions per condition, per year.
4) Likely long-term savings due to improved clinical outcomes from early testing and treatment
(various funds). When considering whether to include additional diseases in the RUSP, the
federal advisory committee considers issues such as the reliability of the screening test, the
availability of treatments, the benefits of early diagnosis, and the anticipated impact on health
outcomes from additional screening. Specific information about the long-term impacts on
health outcomes or avoided health care costs are often not available, because the diseases that
are considered for inclusion are rare and treatments are evolving rapidly. However, new
diseases are added when the advisory committee finds that there are benefits from screening,
primarily the ability to avoid long-term health consequences with early intervention.
Therefore, it is reasonable to believe that including additional diseases that have been
approved by the federal government will reduce state health care spending in the long-run.
COMMENTS:
1) PURPOSE OF THIS BILL. According to the author, newborn screening for rare diseases
is a critical, cost-effective public health intervention, as diagnosing diseases at birth leads to
earlier medical intervention. In turn, early treatment saves and improves children’s and
families’ lives and reduces medical costs by eliminating or ameliorating the devastating
consequences of rare and treatable diseases. California’s current approach to reviewing and
approving screening for additional diseases has created a lag behind current medical
recommendations. A study in the journal Pediatrics found that California saves $9.32 in
health care costs for every dollar spent on newborn screening.
2) BACKGROUND. In 1966 California began its CNSP with the testing of phenylketonuria.
Since its creation, the CNSP has been expanded several times as new discoveries are made
and tests developed and now screens for more than 70 disorders. Diseases have been
continually added through regulation and legislation. The last disease added by statute was
ALD in 2014. ALD was added to the RUSP in February of 2016.
a) RUSP. The Advisory Committee on Heritable Disorders in Newborns and Children
(HDN Committee) is established by federal law for the purpose of making
recommendations and changes to the RUSP. The mission of the HDN Committee is to
reduce morbidity and mortality in newborns and children who have, or are at risk for,
heritable disorders. The HDN Committee advises the Secretary of the U.S. Department
of Health and Human Services (HHS) on the most appropriate application of universal
newborn screening tests, technologies, policies, guidelines, and standards. The HDN
SB 1095
Page 3
Committee recommends that every newborn screening program include a Uniform
Screening Panel that screens for 32 core disorders and 26 secondary disorders; the
disorders' selection was determined using available scientific evidence, availability of a
screening test, presence of an efficacious treatment, adequate understanding of the natural
history of the condition, and whether the condition was either part of the differential
diagnosis of another condition or whether the screening test results related to a clinically
significant condition.
b) CNSP. Prior to leaving the hospital, a few drops of blood from the newborn’s heel are
collected on filter paper. The newborn screening test should be done when the baby is at
least 12 hours of age but before six days of age. The ideal time to do the test is when the
baby is between 24 and 48 hours of age. Blood collected before 12 hours of age is not
always reliable for some metabolic diseases. The sample is sent to one of eight regional
labs that contract with the DPH for testing. The results are sent to DPH for data
collection and quality control. Parents obtain the test results from the baby’s doctor or
clinic. It takes about two weeks for the doctor to receive the written results. If the baby
needs more tests, parents get a letter or a phone call a few days after discharge from the
hospital. Positive test results are immediately telephoned to a follow-up coordinator at
one of the Newborn Screening Area Service Centers throughout the state. The
coordinator contacts the newborn’s physician to arrange for repeat testing. If repeat
testing determines that the baby has a disorder, the coordinator will supply the latest
clinical information on diagnosis and treatment and assist with referrals to special care.
In 2009-10, approximately 520,000 newborns were screened for 75 genetic disorders.
Approximately 9,200 or under 2% were classified as positive or questionable and were
referred for follow-up testing or services.
Disorders screened for by the CNSP have varying degrees of severity. If identified early
many of these conditions can be treated before they cause serious health problems.
Treatments may include medication, dietary supplements, avoidance of fasting and/or
special diet and comprehensive care to reduce morbidity and mortality. The test screens
for specific diseases in the following groups:
i)
ii)
iii)
iv)
v)
vi)
Metabolic: chemical reactions in the body to create energy and build tissue;
Endocrine: hormones that affect body functions;
Hemoglobin: red blood cells that carry oxygen;
Other genetic diseases;
Cystic Fibrosis; and,
Severe Combined Immunodeficiency.
CNSP disorders cause delays in development, neurological damage, dehydration,
incorrect sex assignment, mental retardation, and death if not treated at an early
newborn age. In California about one out of every 600 babies tested will have one of
these conditions or diseases.
3) SUPPORT. The California Hospital Association states that the bill provides a forward
thinking approach to properly and thoughtfully expanding newborn screening by providing
that California screen for diseases that are detectable in blood samples and listed on the
RUSP as certified by the HHS Secretary. The RUSP list is periodically updated through a
thorough, deliberative review process involving a committee of experts in newborn
SB 1095
Page 4
screening. By allowing California to take advantage of the work done by these medical
experts, we can remove the obstacles to needed testing and minimize the suffering that comes
from untreated diseases.
The EveryLife Foundation for Rare Diseases (EveryLife) states that the bill provides a much
needed, practical, science-based approach to improving public health for all of California's
Children. The bill allows for the earliest diagnosis of disease and access to potentially lifesaving and life-altering treatments for babies. Early treatment is vital in ensuring the best
possible life-altering health outcomes for children. In many cases, early detection can avert
costly and risky medical procedures later in life. A study in the journal Pediatrics found that
California saves $9.32 in health care costs for every dollar spent on newborn screenings.
EveryLife states that this bill will ensure that babies born in California, particularly those that
will be affected by debilitating and life-threatening diseases, are diagnosed and treated at the
earliest age possible and without unconscionable delay. This approach is critical for
improving health outcomes for children and providing the brightest future for all babies born
in California.
4) OPPOSITION. The California Right to Life, Inc. argues that this bill does not correct the
issue of the limited ability to opt out of the screening program for religious beliefs or
practices and may even bring discrimination against parents or guardians who do opt out.
5) OPPOSE UNLESS AMENDED. DPH states that if it is required to expand the current
NBS program to include other diseases as soon as a disease is adopted by the RUSP, it will
need additional time to plan and implement a quality screening program that addresses all of
the issues addressed in the public health feasibility and readiness assessments provided to the
Secretary of Health and Human Services as part of the approval process for new RUSP
diseases.
6) RELATED LEGISLATION. AB 170 (Gatto), would require DPH to provide information
about the genetic disease screening tests and obtain a signed informational acknowledgment
form for the receipt of information by the parent or guardian of a newborn child regarding the
storage, retention, and use of the newborn child’s blood sample for medical research. AB
170 is pending in the Senate Health Committee.
7) PREVIOUS LEGISLATION.
a) AB 1559 (Pan), Chapter 565, Statutes of 2014, requires DPH to expand statewide
screening of newborns to include screening for ALD.
b) SB 224 (Walters) of 2013 would have required DPH, until January 1, 2019, to expand the
screening of newborns in Orange County to include screening for Krabbe disease. SB
224 was held in the Assembly Appropriations Committee.
c) SB 1072 (Strickland) of 2012 would have required DPH, until January 1, 2018, to expand
statewide screening of newborns to include screening for Hurler syndrome and Krabbe
disease. SB 1072 was held in the Senate Appropriations Committee.
d) SB 1731 (Block), Chapter 336, Statutes of 2012, establishes the Newborn Critical
Congenital Heart Disease (CCHD) Screening Program and requires hospitals, beginning
SB 1095
Page 5
July 1, 2013, to offer a pulse oximetry test for the identification of CCHD to parents of
newborns prior to discharge.
e) AB 395 (Pan), Chapter 461, Statutes of 2011, expands statewide screening of newborns
to include screening for severe combined immunodeficiency.
f) SB 1103 (Committee on Budget and Fiscal Review), Chapter 228, Statutes of 2004,
expands statewide screening of newborns to include tandem mass spectrometry screening
for fatty acid oxidation, amino acid, organic acid disorders, and congenital adrenal
hyperplasia.
g) AB 442 (Committee on Budget), Chapter 1161, Statutes of 2002, requires hospitals to
collect fees associated with any tests conducted under CNSP.
h) SB 537 (Greene), Chapter 1011, Statutes of 1998, requires DPH to establish a program to
provide extended newborn genetic screening services for persons who elect to have, and
pay for, the additional screening.
REGISTERED SUPPORT / OPPOSITION:
Support
EveryLife Foundation for Rare Diseases
(sponsor)
Acid Maltase Deficiency Association
(AMDA)
Aidan Jack Seeger Foundation
ALD Connect, Inc.
American Behcet's Disease Association
Amour Fund - Alpha Epsilon Omega
Foundation
Angels for Life Foundation
Batten Disease Support & Research
Association
Biocom
Brian’s Hope
Bridge the Gap – SYNGAP Education and
Research Foundation
California Hospital Association
California Academy of Physicians
Assistants
Children's PKU Network
Chronic Granulomatous Disease Association
Coalition Duchenne
County Health Executives Association of
California
Cure Sanfilippo Foundation
DiMedio Foundation for Children
Drew’sHope Research Foundation
Engage Health, Inc.
Fabry Support & Information Group
Friedreich’s Ataxia Research Alliance
Gene Giraffe Project
Gene Spotlight, Inc.
Global Genes
Grace Science Foundation
Hannah’s Hope Fund
Hope4Bridget
Hunter Syndrome Foundation
Immune Deficiency Foundation
International Pemphigus & Pemphigoid
Foundation
International Society for Mannosidosis and
Related Diseases
International Waldenstrom's
Macroglobulinemia Foundation
Jeffrey Modell Foundation
Jett Foundation
Jonah’s Just Begun Foundation to Cure
Sanfillipio
LAL Solace, Inc.
Leukemia Lymphoma Society
Little Miss Hannah Foundation
Lung Transplant Foundation
Lupus and Allied Diseases Association
Lymphatic Malformation Institute
SB 1095
Page 6
Lysosomal Disease Network
March of Dimes
MPS 6CESS Foundation
Muscular Dystrophy Association
National Leiomyosarcoma Foundation
National Lymphedema Network
National Organization for Rare Disorders
National PKU Alliance
National Tay-Sachs & Allied Diseases
Association
Nicholas Conor Institute
Noah’s Hope
NTM Info & Research, Inc.
Olivia’s Heart Project
Organic Acidemia Association
Oxalosis and Hyperoxaluria Foundation
Parent Project Muscular Dystrophy
Pediatric Hydrocephalus Foundation
Phoenix Fox Foundation
Pulmonary Fibrosis Advocates
Rare & Undiagnosed Network
Rare Disease United Foundation
Reflex Sympathetic Dystrophy Syndrome
Association
Sanfilippo Foundation for Children
Save Babies Through Screening Foundation
Saving Case & Friends, a Hunter Syndrome
research & advocacy foundation
Stop ALD Foundation
Taylor’s Tale
Team Niemann-Pick Type C
The Mastocystosis Society
The MLD Foundation
The Myelin Project
The National MPS Society
The Orphan Disease Pathway Project
The OsteoPETrosis Society
The RASopathies Network
The Ryan Foundation
The XLH Network, Inc.
United Leukodystrophy Foundation
Vanishing White Matter Disease
Wired4Life
Zeqing for a Cure
Opposition
California Right to Life Committee, Inc.
Analysis Prepared by: Paula Villescaz / HEALTH / (916) 319-2097