According to Vani Kilakkathi (2007) In their first days of life, 98 percent of

the 4.3 million babies born annually in the United States undergo a form of
genetic screening. Doctors in all fifty states and the District of Columbia
collect blood samples from these infants and send the specimens to
laboratories to be tested for a variety of metabolic conditions. Unlike many
medical tests, the information from newborn screening tests are obtained
and maintained by the state.
To date, studies have not offered an explanation accounting for this
difference, but perhaps one can look to the history of newborn screening for
an answer. Modern newborn screening programs can trace their roots back to
the 1960s. In 1961, Robert Guthrie developed a simple test to screen for
phenylketonuria (PKU), a metabolic condition, which, if left untreated, can
lead to mental retardation.2 A few years later, disability activists successfully
persuaded states to mandate newborn screening for this condition.3 Because
these tests were originally conducted by the states, it is possible that
modern newborn screening occurs at the state level purely through
happenstance.
Since the 1960s, screening for newborn conditions has expanded greatly. To
respond to the variance among the states regarding the number and list of
conditions tested, in 2005 the American College of Medical Genetics (ACMG)
proposed a uniform screening panel4in other words, a standard list of
metabolic conditions that newborns should or could be screened for. The

ACMG assessed the screening potential of eighty-four conditions and

ultimately grouped them into three categories: core panel conditions,
secondary panel conditions, and conditions deemed to be inappropriate
for screening.5From this category construction, it appears that conditions on
the core panel and the secondary panel are appropriate screening targets,
since they are set apart from the group of conditions that the ACMG
determined was inappropriate for screening. As further support for this
idea, in its report, the ACMG stated: The expert group recommends that
State newborn screening programs: 1. Mandate screening for all core panel
conditions defined by this report; [and] 2. Mandate reporting of all secondary
target conditions defined by this report and of any abnormal results that may
be associated with clinically significant conditions.
When asked about this report, ACMG Executive Director Michael S. Watson
responded

that

we

never

recommend

screening

for

secondary

conditions. This is technically true; the report does recommend reporting,

rather than screening, of secondary conditions. However, this semantic
distinction is not particularly meaningful if one considers how the secondary
conditions are identified. The ACMG core panel consists of twenty-nine
conditions that should be primary screening targets, and the secondary
panel consists of twenty-five conditions that, while not initial screening
targets, may still be diagnosed and disclosed to patients if they are identified
while screening for a core panel condition.Watson provided the following
analogy: The secondary panel conditions are secondary to the targets of

screening as is a tumor found in a chest x-ray that is done to evaluate the

victim of a car accident.Just as the cancer would be reported to the accident
victim, so too would a secondary condition that appeared during the
screening for a core panel condition. However, it is important to note that
both the cancer and the secondary condition would still be diagnosed as a
result of some form of screening, despite the fact that they were not the
initial targets of the X-ray or metabolic assay. Thus, if the ACMG mandates
reporting of secondary conditions, they necessarily mandate some form of
screening as well to identify these conditions.
This distinction between screening and reporting may indeed have been too
nuanced, because after the ACMG published its report, jurisdictions
increasingly began screening for conditions listed on the ACMG secondary
panel as well as those on the core panel.Although the expansion of screening
seems like a relatively benign or even beneficial development, there are a
few reasons why such expansion should give pause. For one, the ACMG
report departs from the traditional Wilson and Jungner criteria for screening,
which emphasize the importance of treatment: "Of all the criteria that a
screening test should fulfill, the ability to treat the condition adequately,
when discovered, is perhaps the most important." Instead, the ACMG
effectively loosened the screening requirements, as the report states that
secondary panel conditions may "lack . . . proven efficacious treatment," or
may have natural histories that are "not sufficiently well understood."This
move by the ACMG may have propelled some states to go beyond screening

for the core and secondary panel conditions and begin including other
conditions, like Krabbe.Krabbe illustrates the dangers of adopting looser
screening requirements: Of the twenty-four children who were screened for
and found to have genetic markers associated with the disease in the state
of New York, only four . . . have developed Krabbe symptoms, whereas the
other 20 continue to appear healthy.
This is not to say that newborn screening should be abandoned, or that these
screening programs do not have benefits. It has been estimated that
[e]very year, between 4,000 and 5,000 infants are correctly identified as
having serious genetic disorders, including some that would result in
disability or death if they werent flagged so treatment could begin. But
even this number cannot capture the value of screening to the individual
parents whose children have been able to lead normal, healthy lives because
of early identification.
While this social value should not be diminished, it is possible that the
benefits of screening have been somewhat overstated. One reason why the
benefits of screening may be exaggerated is that the rarity of the conditions
is often underemphasized. George Annas noted that [a]t the observed rate
[of screening], it would take 500 years before one case [of PKU] was missed
because of parental refusal. He also predicted that the same would be true
of

other

conditions

subsequently

added

to

the

newborn

screening

panels.Another reason why the benefits of screening are overstated is that

many initial positives are actually false positives. One professor of pediatrics
estimated that only about one in fifty of every positive newborn screening
test detects actual disease and stated that the average rate of false
positives can vary widely between the conditions tested. As an additional
complication, state-to-state differences in skill and resource availability may
lead to situations where parents in one state might find that false positive
rates are as low as 0.01 percent of all newborn tests, while parents a few
states over may find as many as 1.52 percent of those tests are false
alarms.
An additional reason why the value of newborn screening may be
exaggerated is that the public health benefits of screening may not live up to
their promise. In its 2005 report, the ACMG stated that newborn screening
offers

the

opportunity

to

better

[understand]

disease

history

and

characteristics and provides hope for earlier medical interventions to be

developed in the future. However, according to officials administering the
screening programs in New York, Massachusetts, and North Carolina,
newborn screening is mostly used to ensure that existing tests meet quality
control standards, and, in certain cases, used to formulate new screening
tests. While these are certainly beneficial applications of newborn screening,
they seem to fall short of the stated promises of elucidating disease
characteristics and generating earlier interventions. When asked about other
applications of newborn screening, none of these public health officials could
offer examples of research projects that had yielded results aligned with the

promises stated in the ACMG paper; a survey of the available medical

literature also failed to turn up any studies reflecting the benefits promised
by the ACMG. Thus, it appears that the cost-benefit calculus of newborn
screening is more complicated than one might expect.
When analyzing newborn screening programs, it is important to critically
consider

all

of

the

potential

benefits,

as

well

as

any

associated

disadvantages. The current systems for screening appear to have evolved

organically, instead of developing through critical, strategic planning. As a
result, the disadvantages of the current screening system may be overlooked
or dismissed. For this reason, it is important to stimulate a national
discussion about newborn screening that involves multiple perspectives, so
that the full complexity of the issue is represented and considered.

According to American College of Obstetricians and Gynecologists (March

2011) ,Newborn screening programs are developed and managed on the
state level and operate through collaborations between public health
programs, laboratories, hospitals, pediatricians, subspecialists, and specialty
diagnostic centers. Their functions include the initial screening of all
newborns, identifying screen-positive neonates, diagnosing conditions,
communicating with families, ensuring that affected children are referred to
treatment centers, following long-term outcomes, and educating physicians
and the public according to individual state guidelines. States test newborns
primarily through blood samples collected from heel pricks that are placed
on a special filter paper. The specimens are sent to a designated state
newborn screening laboratory within 24 hours. Limitations for obtaining
specimens include newborns that require a transfusion or total parenteral
nutrition, sick or preterm infants, or infants born out of the hospital setting.

These newborns still require testing, but screening takes place in a variable
time frame, with adjustments made according to circumstances

ACCORDING TO ONTARIO (2012), A newborn screening specimen card should

be completed between one day (24 hours) and seven days after the birth of
the infant, ideally, between two days (48 hours) and three days (72 hours)
after birth. If tested before 24 hours of age, the baby's health care provider
should repeat the test within five days, at the first postnatal checkup.
Blood spots from infants are collected using the heel-prick method, which is
detailed on the back of the specimen card. The parent should be given the
information letter attached to the specimen card that includes a reference
number in the top right hand corner. This number can be used to link to the
baby's sample.
A health care provider will fill out demographic information about the baby
and the baby's mother/guardian on the newborn screening card. This
information allows the ONSP to correctly interpret the baby's results, and, in
the event that the baby screens positive for a disorder, it will allow the health
care providers coordinating follow-up to contact the parent/guardian quickly
to retrieve the baby.
The hospital or health care provider will mail the baby's sample to the ONSP
using the provided Xpresspost system. When the sample is received, the

blood spot is tested and the demographic information from the newborn
screening card is entered into a database. This database connects the baby's
information with the results of the screening tests, and also serves as a way
to store the baby's newborn screening result.
If you are providing care for an infant who is premature (i.e., less than 37
weeks gestation), ill, has been transfused, or has been on total parenteral
nutrition (TPN) or antibiotics, please refer to the Special Considerations
section.
Most newborn screening is conducted by state health laboratories, which
follow

prescribed

procedures

to

ensure

high-quality

screening

and

communicate results and information with other segments of the newborn

screening system, such as hospitals and health-care practitioners. They also
play an important role in conducting translational research by identifying and
designing new screening tests and focusing on quality improvement of
current screening tests. Their challenges include an environment of
restricted state budgets, an increase in the number of new conditions that
need to be detected, and the need to stay current with evolving technologies
and automate processes to reduce cost.
CDC works with state and regional newborn screening laboratories to
develop and improve the quality of screening tests. CDC administers the
Newborn Screening Quality Assurance Program, which includes all U.S.
laboratories

involved

in

newborn

screening

and

>450

international

laboratories. This is the only program that addresses quality issues of dried
blood spot measurements for all conditions for which newborn screening is
available in the United States. The program provides proficiency testing,
training, support, technical assistance, and consultation to participating
laboratories.The goal of long-term follow-up is to improve the quality of care
for children with diagnosed disorders so that they receive timely, appropriate
care

(13).

Strategies

for

comprehensive

long-term

follow-up

include

coordination of multidisciplinary care through a child's medical home,*

monitoring physical and psychosocial outcomes, improving family and
provider access to information, establishing evidence-based best practices,
and improving quality and timeliness of follow-up, diagnosis, and treatment
and management through health information technology. Long-term followup is used to assess the needs of patients and families regarding disease
management, treatment, and age-appropriate preventive care. Long-term
follow-up can provide invaluable data to guide treatment through the
development of care guidelines and clinical decision support. In the United
States, however, newborn screening resources often are focused on
diagnosis and short-term follow-up, and long-term follow-up among state
programs varies considerably. A 2005 survey of state newborn screening
programs found that only 56% routinely conduct systematic long-term followup (14). Improvement of data quality in overall tracking and surveillance
systems is needed to track the clinical outcomes of affected children more
effectively and to refine protocols for short-term and long-term follow-up of

children with conditions identified through newborn screening. For example,

newborn screening for hearing loss increased from 46.5% in 1999 to 96.9%
in 2008, but data on follow-up testing are lacking. In 2009, nearly 45% of
infants who did not pass screens lacked documentation of a follow-up
assessment (6). The Indiana newborn hearing screening program is
exemplary for its web-based tracking and surveillance system, which
includes follow-up reminders and quality improvement activities. Indiana has
shown a dramatic decrease in the percentage of infants who are lost to
follow-up and documentation, from 35% in 2005 to 7% in 2009 (6) .
Data transmission between clinical care and public health systems is needed
to improve follow-up and management. CDC, HRSA, the National Institutes of
Health, and the National Library of Medicine are working with state programs
and clinicians to describe common variables and standardize data collection
procedures to enable different segments of the newborn screening system to
share information. Another challenge is that states might differ in the case
definitions they use for newborn screening disorders. To create multistate
datasets for newborn screening disorders, federal agencies are collaborating
with clinicians to develop standardized case definitions for use in state and
national newborn screening data collection.
The need for improvements in long-term follow-up provides opportunities for
partnerships at the national, state, and local levels. National partnerships
provide a forum for health-care providers, public health professionals, and

families to collaborate on newborn screening issues such as data collection,

education, laboratory services, and clinical care. At the state and local level,
partnerships

should

be

established

among

state

newborn

screening

programs, Title V programs, professional societies, and health-care providers.

Resources to support these partnerships include the HRSA-funded Regional
Genetic and Newborn Screening Services Collaboratives, the National
Institutes of Health-funded Newborn Screening Translational Research
Network, the Genetic Alliance, the National Newborn Screening and Genetics
Resource Center, and the National Center on Hearing Assessment and
Management. Initiatives designed to improve quality and develop the
evidence base for treatment include the Newborn Screening ACTion Quality
Improvement Innovation Network and the Newborn Screening Education in
Quality Improvement for Pediatric Practice course, which include decision
support tools for the clinical practice and education of primary-care
providers, assisting them in identifying and closing gaps in care. Learning
collaboratives, such as the National Initiative for Children's Healthcare
Quality/Maternal Child Health Bureau project, have been developed to help
state programs improve hearing screening services and enhance data
collection
registries.http://www.cdc.gov/mmwr/preview/mmwrhtml/mm6121a2.htm

and

It is the providers responsibility to make sure the newborn has had a screen,
reviewed and interpreted results with respect to blood transfusion and diet
status. Also providers should inform parents of results. If a specimen is
unsatisfactory or abnormal it is the responsibility of parents and providers to
obtain a repeat specimen once notified. The screening results will be mailed
to the submitter of the specimen and to the provider listed on the newborn
screening form.
If results are unsatisfactory (poor collection) both the provider and parents
will receive a letter from the newborn screening follow up program
requesting a repeat specimen to be submitted. If the results are abnormal
and show a possible disease, follow up notifies the provider and tertiary
center by phone and fax. Appropriate recommendations are made based on
the result. Once notified please contact the parent as soon as possible to
help facilitate rescreening. The follow up program along with the tertiary
center ensures patient has confirmatory testing, diagnosis and treatment
when necessary. An abnormal case is followed closely until the case is closed
with confirmed diagnosis or is shown to be normal.
This is a screening test that can be affected by baby's age, medical or
treatment status at the time of specimen collection; the quality and quantity
of the specimen or other variables and may not detect all affected babies.
The possibility of false negative or false positive results must always be
considered when screening newborns for metabolic disorders. Regardless of
the results of the newborn screen, the childs health care provider should

proceed with diagnostic testing on any infant exhibiting clinical signs and
symptoms.
https://sites.google.com/site/vylhphilippines/vylhadvocacies/newbornscreening-promotion/the-need-for-newborn-screening-promotion