Assembly Bill A9791

                                BILL NUMBER:A9791

TITLE OF BILL:
An act
to amend the public health law, in relation to requiring neonatal
testing for certain diseases

PURPOSE:
To require the testing of newborns for Pompe disease, Fabry disease,
Niemann-Pick disease, Gaucher disease and severe combined
immunodeficiency disease (commonly referred to as SCID).

SUMMARY OF PROVISIONS:
Subdivision (a) of Section 2500-a of the Public Health Law, as amended
by Chapter 863 of the Laws of 1986, is amended to add Pompe disease,
Fabry disease, Niemann-Pick disease, Gaucher disease and severe
combined immunodeficiency disease (SCID) to the list of tests to be
administered to infants born in the State of New York.

EXISTING LAW:
Current New York State Law does not mandate the testing of infants for
Pompe disease, Fabry disease, Niemann-Pick disease, Gaucher disease
or severe combined immunodeficiency disease (SCID).

JUSTIFICATION:
New York State's Newborn Screening Program began in 1965. The goal of
              

the program is to help-ensure that newborn infants are tested,
through a simple blood test, for rare disorders. Early diagnosis and
medical treatment has been proven to prevent or lessen the .'severity
of many diseases and conditions. Over the past forty-five (45) years,
diseases and conditions have been added to the State's program to
keep New York State at the forefront of newborn testing. As of 2010,
infants born in the State of New York are tested for more than forty
(40) disorders. While rare, these diseases are usually very serious
and some even life threatening. For many of these disorders or
conditions a lack of early detection and treatment can cause mental
retardation, abnormal physical development and a host of other
problems.

As scientific techniques for newborn testing continue to advance, it
has become possible to test a number of additional disorders. It is
incumbent upon the State of New York to add these diseases to their
newborn screening program. Several years ago, New York State added
Krabbe disease, a lysosomal disorder which killed the son of former
Buffalo Bills quarterback Jim Kelly, to the State's Screening
Program. According to the Lysosomal Storage Disease Program at Cedars
Sinai Hospital, lysosomal storage diseases are caused by a lack of
enzymes that normally eliminate unwanted substances in the cells of
the body. The lack of certain enzymes causes a buildup of the
substance the enzyme would normally eliminate, and deposits
accumulate in many cells of the body. Abnormal storage causes

inefficient functioning and damage to the body's
cells, which can lead to serious health problems.

There are now, other lysosomal storage disorders that have been added
to the newborn screening programs in Missouri and Illinois. These
include Pompe disease, which occurs in 1 in 40,000 people; Fabry
disease, which occurs between 1 in 40,000 and 1 in 60,000 people;
Gaucher disease which, depending on the disease type and a person's
heritage, occurs between 1 in 500 to 1 in 1,000 persons in high-risk
groups to 1 in 50,000 and 1 in 100,000 people in the general
population; and NiemannPick disease, which depending on the disease
type and a person's heritage, occurs at rates between 1 in 40,000, 1
in 150 000 and 1 in 250,000. This legislation would add the testing
of these diseases to New York's program.

In addition, the State of Wisconsin is now testing for severe combined
immunodeficiency disease (SCID), commonly referred to as the "Bubble
Boy Disease," According to the National Genome Research Institute at
the National Institutes of Health, SCID is caused by defects in any
of several possible genes which make those affected highly
susceptible to life-threatening infections by viruses, bacteria and
fungi. The classic symptoms of SCID include an increased
susceptibility to a variety of infections, including ear infections
(acute otitis media), pneumonia, bronchitis, oral thrush (a type of
yeast that multiplies rapidly, creating white, sore areas in the
mouth), and diarrhea. Because children with SCID experience multiple
infections, they fail to grow and gain weight as expected (i.e.,
failure to thrive). Children with untreated SCID rarely live past the
age of two, therefore, early detection and treatment are crucial.
This legislation will also add severe combined immunodeficiency
disease to the New York's Newborn Screening Program.
New parents in New York State should have the benefit of knowing that
their infants are being tested for as many diseases as possible at
birth.

LEGISLATIVE HISTORY: This is a new bill.

FISCAL IMPLICATIONS: To be determined.

EFFECTIVE DATE:
This act shall take effect January 1, 2011; provided, that, effective
immediately, the addition, amendment and/or repeal of any rule or
regulation necessary for the implementation of this act on its
effective date is authorized and directed to be completed on or
before such date.