RA 9288

REPUBLIC ACT NO. 9288: NEWBORN SCREENING ACT OF 2004

to safeguard the rights of an individual citizen to life and the quality of life especially right after they were born.

Newborn screening (NBS)

done by collecting blood samples after 24 hours to diagnose any genetic or metabolic conditions. All positive blood samples are then subjected to confirmatory tests; thus, early patient management can be provided to reduce the morbidity, mortality, and associated disabilities in affected infants.

subjected to confirmatory tests

All positive blood samples are?

The Department of Health (DOH)

acts as the lead agency in the implementation of the law to ensure the normal growth and development of the affected individual.

The National Newborn Screening program

includes screening for the following metabolic disorders: Congenital Hypothyroidism or CH ( 1 in every 2,637); Congenital Adrenal Hyperplasia or CAH (1 in every 16,819); Phenylketonuria or PKU (1 in every 121,143); Galactosemia or Gal (1 in every 79,332); Maple Syrup Urine Disorder or MSUD (1 in every 71,347) and Glucose-6-Phosphate Dehydrogenase Deficiency or G6PD deficiency (1 in every 56).

Newborn Screening (NBS)

A simple procedure to find out if a baby has a congenital disorder that may lead to mental retardation or even death if left untreated.

Most babies with metabolic disorders look “normal” at birth. By doing NBS, metabolic disorders may be detected even before clinical signs and symptoms are present. As a result of this, treatment can be given early to prevent the consequences of untreated conditions.

significance of this RA

• Developmental delay

• Breathing problems

• Neurologic damage

• Seizures

• Coma

• Early death

ORGANIC ACID DISORDERS (EFFECT IF NOT SCREENED)

• Alive

• Most will have normal development with episodes of metabolic crisis

ORGANIC ACID DISORDERS (EFFECT IF SCREENED AND MANAGED)

• Severe mental retardation

• Death

ENDOCRINE DISORDERS (EFFECT IF NOT SCREENED)

• Normal

• Alive

ENDOCRINE DISORDERS (EFFECT IF SCREENED AND MANAGED)

• Developmental, physical delays

• Neurologic impairment

• Sudden death

• Coma

• Seizure

• Enlargement of the heart and liver

• Muscle weakness

FATTY ACID OXIDATION DISORDER (EFFECT IF NOT SCREENED)

• Alive

• Usually healthy in between episodes of metabolic crisis

FATTY ACID OXIDATION DISORDER (EFFECT IF SCREENED AND MANAGED)

• Painful crisis

• Anemia

• Stroke

• Multi-organ failure

• Death

HEMOGLOBIN OPATHIES (EFFECT IF NOT SCREENED)

• Alive

• Reduces the frequency of painful crisis

• May reduce the need for blood transfusions

HEMOGLOBIN OPATHIES (EFFECT IF SCREENED AND MANAGED)

• Seizure

• Mental retardation

• Death

UREA CYCLE DEFECT (EFFECT IF NOT SCREENED)

• Alive

• Normal intelligence

UREA CYCLE DEFECT (EFFECT IF SCREENED AND MANAGED)

• Mental retardation

• Coma and death from metabolic crisis

AMINO ACID DISORDERS (EFFECT IF NOT SCREENED)

• Alive

• Normal growth

• Normal intelligence for some, learning problems to others

AMINO ACID DISORDERS (EFFECT IF SCREENED AND MANAGED)

Newborn Screening (NBS)

Typically involves the collection of small blood sample from the baby’s heel, usually with 48 hours after birth. The sample is then sent to the laboratory for analysis and the specific test depending on the country or region.

The Comprehensive Newborn Screening (NBS) Program

was integrated as part of the country’s public health delivery system with the enactment of the Republic Act no. 9288 otherwise known as the Newborn Screening Act of 2004.

The Department of Health (DOH)

acts as the lead agency in the implementation of the law and collaborates with other National Government Agencies (NGA) and key stakeholders to ensure early detection and management of several congenital metabolic disorders.

testing infrastructure

•  Maintenance of facilities equipped to conduct newborn screening tests

• Ensuring that the laboratory has necessary equipment, trained personnel and quality control measures

policy development

• To govern practices

• Selection of disorders to be screened for, the timing and methods for testing, reporting mechanisms and follow-up procedures

public awareness and education

•  To inform parents, healthcare providers, and the public

•  Increase understanding of the purpose and benefits of screening

quality assurance

•  Accuracy and reliability of newborn screening tests

• Conducting proficiency testing programs, monitoring the performance of screening laboratories and providing ongoing training and support to laboratory personnel

collaboration and coordination with groups and organization

To leverage resources, share practices and address challenges in the implementaion

1. Congenital hypothyroidism (CH)

2. Congenital adrenal hyperplasia (CAH)

3. Phenylketonuria (PKU)

4. Glucose-6-phosphate dehydrogenase (G6PD) deficiency

5. Galactosemia (GAL)

6. Maple syrup urine disease (MSUD)

NEWBORN SCREENING PROGRAM IN THE PHILIPPINES CURRENTLY INCLUDES SCREENING OF SIX DISORDERS:

National Policy and Strategic Framework on Expanded Newborn Screening for 2017-2030

Administrative Order No. 2018-0025

the Guidelines on the Implementation of the Expanded Newborn Screening Program

Administrative Order No. 2014-0045

• Hemoglobinopathies and

• Additional metabolic disorders, namely, organic acid, fatty acid oxidation, and

  amino acid disorders.

22 more disorders:

1. NIH at the University of the Philippines Manila

2. Visayas located at West Visayas State University Medical Center, Iloilo City

3. Mindanao located at the Southern Philippines Medical Center, Davao City

4. Central Luzon in Angeles City, Pampanga (Angeles University Foundation Medical Center)

5. Southern Luzon in Tanauan City, Batangas (Daniel Mercado Medical Center)

6. Northern Luzon in Batac City, Ilocos Norte (Mariano Marcos Memorial Hospital and Medical Center)

SIX OPERATIONAL NSCS IN THE COUNTRY

Ideally done immediately after 24 hours from birth.

WHEN IS IT DONE?

A few drops of blood are taken from the baby’s heel, blotted on a special absorbent filter card, and then sent to the Newborn Screening Center (NSC).

HOW IS IT DONE?

Physician, nurse, medical technologist, or trained midwife

WHO WILL COLLECT THE SAMPLE?

• January 20, 2004

• entitled “Declaring the 1st Week of October of Each Year as “National Newborn Screening Week”

• Approved by: President Gloria Macapagal-Arroyo

PROCLAMATION NO. 540 facts:

• "Newborn Screening Act of 2004“

• 19 sections

• Approved by: President Gloria Macapagal-Arroyo

• April 7, 2004

REPUBLIC ACT NO. 9288 facts:

SECTION 2. DECLARATION OF POLICY

The National Newborn Screening System shall ensure that every baby born in the Philippines is offered the opportunity to undergo newborn screening and thus be spared from heritable conditions that can lead to mental retardation and death if undetected and untreated.

Sustainability

Entails establishing mechanism for funding, resource allocation, capacity building and program evaluation to ensure that newborn screening services remain accessible and effective over time

Collaboration

Engaging multiple stakeholders

to ensure that everybody born in the Philippines has the opportunity to undergo newborn screening.

The main objective:

1. To ensure that every newborn has access to newborn screening for certain heritable conditions that can result in mental retardation, serious health complications, or death if left undetected and untreated;

2. To establish and integrate a sustainable newborn screening system within the public health delivery system;

3. To ensure that all health practitioners are aware of the advantages of newborn screening and of their respective responsibilities in offering newborns the opportunity to undergo newborn screening; and

4. To ensure that parents recognize their responsibility in promoting their child's right to health and full development, within the context of responsible parenthood, by protecting their child from preventable causes of disability and death through newborn screening.

SECTION 3. OBJECTIVES

Comprehensive Newborn Screening System

means a newborn screening system that includes, but is not limited to, education of relevant stakeholders; collection and biochemical screening of blood samples taken from newborns; tracking and confirmatory testing to ensure the accuracy of screening results; clinical evaluation and biochemical/medical confirmation of test results; drugs and medical/surgical management and dietary supplementation to address the heritable conditions; and evaluation activities to assess long term outcome, patient compliance and quality assurance.

Follow-up

means the monitoring of a newborn with a heritable condition for the purpose of ensuring that the newborn patient complies fully with the medicine of dietary prescriptions.

Health institutions

mean hospitals, health infirmaries, health centers, lying-in centers, or puericulture centers with obstetrical and pediatric services, whether public or private.

Healthcare practitioner

means physicians, nurses, midwives, nursing aides, and traditional birth attendants.

Heritable condition

means any condition that can result in mental retardation, physical deformity, or death if left undetected and untreated and which is usually inherited from the genes of either or both biological parents of the newborn.

National lnstitute of Health

NIH means the?

Newborn

means a child from the time of complete delivery to 30 days old.

Newborn Screening

means the process of collecting a few drops of blood from the newborn onto an appropriate collection card and performing biochemical testing to determine if the newborn has a heritable condition.

Newborn Screening Center

means a facility equipped with a newborn screening laboratory that complies with the standards established by the NIH and provides all required laboratory tests and recall/follow-up programs for newborns with heritable conditions.

Newborn Screening Reference Center

means the central facility at the NIH that defines testing and follow-up protocols, maintains an external laboratory proficiency testing program, oversees the national testing database and case registries, assists in training activities in all aspects of the program, oversees content of educational materials and acts as the Secretariat of the Advisory Committee on Newborn Screening.

Parent education

means the various means of providing parents or legal guardians infonnation about newborn screening.

Recall

means a procedure for locating a newborn with a possible heritable condition for the purposes of providing the newborn with the appropriate laboratory to confirm the diagnosis and, as appropriate, provide treatment.

Treatment

means the provision of prompt, appropriate, and adequate medicine, medical and surgical management, or dietary prescription to a newborn for purposes of treating or mitigating the adverse health consequences of the heritable condition.

SECTION 5. OBLIGATION TO INFORM

Any health practitioner who delivers or assists in the delivery of a newborn in the Philippines shall, prior to delivery, inform the parents or legal guardian of the newborn of the availability, nature, and benefits of newborn screening.

twenty-four (24) hours; not later than three (3) days

Shall be performed after _______________ of life but __________________ from complete delivery of the newborn.

intensive care; seven (7) days of age

A newborn that must be placed in _______________ in order to ensure survival may be exempted from the 3-day requirement but must be tested by ____________________.

SECTION 6. PERFORMANCE OF NEWBORN SCREENING

Joint responsibility of the parent(s) and the practitioner or other person delivering the newborn to ensure that newborn screening is performed.

religious beliefs; acknowledge in writing

A parent or legal guardian may refuse testing on the grounds of _____________ but shall __________________ their understanding that refusal for testing places their newborn at risk for undiagnosed heritable conditions.

SECTION 7. REFUSAL TO BE TESTED

A copy of this refusal documentation shall be made part of the newborn's medical record, and the refusal shall be indicated in the national newborn screening database.

SECTION 8. CONTINUING EDUCATION, RE-EDUCATION AND TRAINING HEALTH PERSONNEL

• The DOH, with the assistance of the NIH and other government agencies, professional societies and nongovernment organizations, shall:

• conduct continuing information, education, re-education, and training programs for health personnel on the rationale, benefits, procedures of newborn screening; and

• disseminate information materials on newborn screening at least annually to all health personnel involved in material and pediatric care

DOH and the Philippine Health Insurance Corporation

The ______________________________________ shall require health institutions to provide newborn screening services as a condition for licensure or accreditation.

1. Establish the Advisory Committee on Newborn Screening;

2. Develop the implementing rules and regulations for the immediate implementation of a nationwide newborn screening program within one hundred eight (180) days from the enactment of this Act;

3. Coordinate with the Department of the Interior and Local Government (DILG) for implementation of the newborn screening program;

4. Coordinate with the NIH Newborn Screening Reference Center for the accreditation of Newborn Screening Centers and preparation of defined testing protocols and quality assurance programs.

For purposes of achieving the objectives of this Act, the DOH shall:

1. Review annually and recommend conditions to be included in the newborn screening panel of disorders;

2. Review and recommend the newborn screening fee to be charged by Newborn Screening Centers;

3. Review the report of the Newborn Screening Reference Center on the quality assurance of the National Screening Centers and

4. Recommend corrective measures as deemed necessary.

To ensure sustained inter-agency collaboration, the Advisory Committee on Newborn Screening is hereby created and made an integral part of the Office of the Secretary of the DOH

8

Members of the committee

1. Secretary of Health - Chairman

2. Executive Director of the NIH - Vice Chairperson

3. Undersecretary of the DILG

4. Executive Director of the Council for the Welfare of Children

5. Director of the Newborn Screening Reference Center

6. Three (3) representatives appointed by the Secretary of Health who shall be a pediatrician, obstetrician, endocrinologist, family physician, nurse or midwife, from either the public or private sector

Members of the committee

three (3) representatives; three (3) years; three (3) years

The ___________________ shall be appointed for a term of _____________, subject to their being reappointed for additional _______________ period for each extension.

twice

The Committee shall meet at least _______ a year

SECTION 12. ESTABLISHMENT AND ACCREDITATION OF NEWBORN SCREENING CENTERS

The DOH shall ensure that Newborn Screening Centers are strategically located in order to be accessible to the relevant public and provide services that comply with the standards approved by the Committee upon the recommendation of the NIH/ National Institute of Health.

NSC should have a strategic location to be easily accessible to the general public

Areas where they can serve a broad segment of the population, both urban and rural communities. The goal is to minimize barriers to access and ensure that newborn screening services are readily available to all who need them.

NSC should comply with approved standards

• To ensure the quality, safety and effectiveness of newborn screening procedures

• Includes laboratory practices, testing, protocols, equipment, maintenance, quality control measures, and staff training

• The standards must be approved by the committee that makes recommendations based on scientific evidence

1. Have a certified laboratory performing all tests included in the newborn screening

   program;

2. Have a recall/follow-up program for infants found positive for any and all of the

   heritable conditions;

3. Be supervised and staffed by trained personnel whom the NIH has duly

   qualified; and

4. Submit to periodic announced or unannounced inspections by the Reference Center in order to evaluate and ensure quality Newborn Screening Center performance.

Newborn Screening Center shall:

SECTION 13. ESTABLISHMENT OF A NEWBORN SCREENING REFERENCE CENTER

The NIH shall establish a Newborn Screening Reference Center, which shall be responsible for the national testing database and case registries, training, technical assistance, and continuing education for laboratory staff in all Newborn Screening Centers.

• Drafting and ensuring good laboratory practice standards for newborn screening centers

• Establishing an external laboratory proficiency testing and certification program.

The NIH Newborn Screening Reference Center shall be responsible for:

SECTION 17. REPEALING CLAUSE

All general and special laws, decrees, executive orders, proclamations, and administrative regulations, or any parts thereof, which are inconsistent with this Act are hereby repealed or modified accordingly.

SECTION 18. SEPARABILITY

If, for any reason or reasons, any party of provisions of this Act shall be declared or held to be unconstitutional or invalid, other provision or provisions hereof which are not affected thereby shall continue to be in full force and effect.

SECTION 19. EFFECTIVITY

This Act shall take effect fifteen (15) days after its publication in at least two (2) newspapers of general circulation.

•  Dr. Carmencita Padilla

• Dr. Mary Ann Tiong

Guest speakers:

after being tested positive for the screening

The confirmatory test is done ___________________________________

2 weeks after birth

Critical period is only for ___________________. Therefore, it is crucial to do the test at birth.

A

NBS must be done regardless of whether there is a family history of disease or none. (recessive conditions where parents are carriers). NBS is the responsibility of the parents and healthcare practitioners.

a. both true

b. both false

c. first is true; second is false

d. second is true; first is false

• Congenital hyperthyroidism (CH)

• Congenital Adrenal Hyperplasia (CAH)

• Glucose-6 phosphate dehydrogenase (G6PD) Deficiency

• Galactosemia (GAL)

• Phenylketonuria (PKU)

• Maple Syrup Urine Disease (MSUD)

Disorders Tested for NBS

Congenital hyperthyroidism (CH)

• Most common inborn metabolic disorder

• Results from lack or absence of thyroid hormone, which is essential for the physical and mental development of a child

• Start treatment within 2 weeks (loose IQ points after 2 weeks)

Congenital Adrenal Hyperplasia (CAH)

Can be dead within 10 days

Glucose-6 phosphate dehydrogenase (G6PD) Deficiency

• Enzyme in the RBC is deficient and when exposed to certain food or drugs, the RBC gets destroyed

• Can lead to jaundice, brain damage, etc

• 1 in 55 Filipino

• Inherited from parents

Galactosemia (GAL)

Treatment: changing certain milk formula

Maple Syrup Urine Disease (MSUD)

• When the positive test result comes out, the pediatrician will arrange a referral to a specialist for the treatment of the patient

• Upon receiving a positive result from the initial newborn screening test, the next step involves confirmatory testing. If the confirmatory test also yields a positive result, treatment is initiated. This ensures that the diagnosis is validated through a more detailed examination before implementing any therapeutic interventions.

• Treatment: compliance of the parents.

PhilHealth; out-of-pocket

NBS is covered by ________ (550 pesos) or ___________ if not a member.