7 RA 9288 (Newborn Screening Act).pdf

REPUBLIC ACT NO. 9288 “Newborn Screening Act of 2004” MTLB211 Medical Technology Laws and Bioethics Sherlyn Joy P. Isip, RMT, MSMT OUR LADY OF FATIMA UNIVERSITY COLLEGE OF MEDICAL LABORATORY SCIENCE  What is Newborn Screening? Process of collecting a few d...

REPUBLIC ACT NO. 9288 “Newborn Screening Act of 2004” MTLB211 Medical Technology Laws and Bioethics Sherlyn Joy P. Isip, RMT, MSMT OUR LADY OF FATIMA UNIVERSITY COLLEGE OF MEDICAL LABORATORY SCIENCE  What is Newborn Screening? Process of collecting a few drops of blood from the newborn onto an appropriate collection card and performing biochemical testing for determining if the newborn has a heritable condition. Simple, non-invasive procedure to find-out if a baby has a congenital metabolic disorder that may lead to mental retardation and or death if left untreated. Newborn screening tests are done by measuring metabolites and enzyme activity in whole blood samples collected on specialized filter paper. It is a simple procedure, using the heel prick method, a few drops of blood are blotted on a special absorbent filter card/paper. WHO MAY COLLECT THE SAMPLES FOR NEWBORN SCREENING? Physician Nurse Midwife Medical Technologist  DOH Newborn Screening Program Newborn screening (NBS) is an essential public health strategy that enables the early detection and management of several congenital disorders, which if left untreated, may lead to mental retardation and/or death. Early diagnosis and initiation of treatment, along with appropriate long-term care help ensure normal growth and development of the affected individual. It has been an integral part of routine newborn care in most developed countries for five decades, either as a health directive or mandated by law. In the Philippines, it is a service available since 1996.  Globally 2.3 million children died in the first 20 days of life in 2022. EPIDEMIOLOGY There are approximately 6,500 newborn deaths every day, amounting to 47% of all child deaths under the age of 5 years.  MILESTONES IN THE HISTORY OF NEWBORN SCREENING IN THE PHILIPPINES First organizational meeting attended by February 22, 1996 representatives from different PPS and POGS accredited hospitals in Metro Manila Creation of the NBS Study group composed of Pediatric and OB-Gynecology consultants from April 02, 1996 participating hospitals. Project name: Philippine Newborn Screening Project Commencement of the Philippine Newborn Screening June 27, 1996 Project in 24 participating hospitals (18 private and 6 government) Coordination with the New South Wales Newborn June 1996 – September 1997 Screening Program in Australia for test performance and analysis Start of operation of the Newborn Screening September 18, 1997 Laboratory at the National Institutes of Health, UP Manila MILESTONES IN THE HISTORY OF NEWBORN SCREENING IN THE PHILIPPINES Issuance of the Presidential Proclamation No. 540, Subject: “Declaring the First Week of October of each January 20, 2004 year as “National Newborn Screening Awareness Week” Enactment of Republic Act 9288 known as the April 07, 2004 Newborn Screening Act of 2004 Signing of the Implementing Rules and Regulations of October 07, 2004 the Newborn Screening Act Inclusion of Maple Syrup Urine Disease (MSUD) in the January 2012 NBS Panel of Disorders Expanded Newborn Screening – inclusion of more December 2014 than 20+ disorders in the NBS Panel of Disorders Administrative Order No. 2014-0045-A, all infants March 29, 2019 born in accredited facilities shall be tested for ENBS test only REPUBLIC ACT NO. 9288 “AN ACT PROMULGATING A COMPREHENSIVE POLICY AND A NATIONAL SYSTEM FOR ENSURING NEWBORN SCREENING”  GENERAL INFORMATION Republic Act 9288 Newborn Screening Act of 2004 Senate No. 2707 (February 2, 2004) and House No. 6625 (February 5, 2004) Approval Date: April 7, 2004 Signed by: President Gloria Macapagal-Arroyo Presidential Proclamation No. 540 on Jan 20, 2004: “Newborn Screening Week”  SUMMARY OF RA 9288 Consists of 19 Sections Short Title, Declaration of Policy, Objectives, Definitions, Obligation to Inform, Performance of Newborn Screening, Refusal to be Tested, Continuing Education, Re-education and Training Health Personnel, Licensing and Accreditation, Lead Agency, Advisory Committee on Newborn Screening, Establishment and Accreditation of Newborn Screening Centers, Establishment of a Newborn Screening Reference Center, Quality Assurance, Database, Newborn Screening Fees, Repealing Clause, Separability Clause, Effectivity Five Articles: General Provisions - Sections 1, 2, 3 Definition of Terms - Section 4 Newborn Screening - Sections 5, 6, 7, 8, 9 Implementation - Sections 10, 11, 12, 13, 14, 15, 16 Final Provisions - Sections 17, 18, 19  DECLARATION OF THE POLICY It is the policy of the State to: Protect and promote the right to health of the people, including the rights of children to survival and full and healthy development as normal individuals. Institutionalize a national newborn screening system that is comprehensive, integrative and sustainable, and will facilitate collaboration. 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.  ELEMENTS OF NEWBORN SCREENING It is a requirement to institutionalize NBS as a public health program that aims to ensure that every child delivered is screened from various heritable diseases that may lead to mental retardation and worst-case scenario death. 1. Comprehensive 2. Integrative 3. Sustainable 4. Collaborative  OBJECTIVES GOVERNMENT NEWBORN SCREENING HEALTH CARE PRACTITIONERS PARENT / GUARDIAN  DEFINITION OF TERMS 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; evaluation activities to assess long term outcome, patient compliance and quality assurance.  DEFINITION OF TERMS 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 or 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. NIH means the National Institutes of Health Newborn means a child from the time of complete delivery to 30 days old.  DEFINITION OF TERMS Newborn Screening means the process of collecting a few drops of blood from the newborn onto an appropriate collection card and performing biochemical testing for determining 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. Parent education means the various means of providing parents or legal guardians information about newborn screening. Recall means a procedure for locating a newborn with a possible heritable condition for purposes of providing the newborn with 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.  NEWBORN SCREENING Obligation to Inform Health practitioner: inform the parents or legal guardian of the newborn of the availability, nature and benefits of newborn screening prior to delivery Department of Health (DOH): appropriate notification and education regarding this obligation Performance of Newborn Screening Performed after twenty-four (24) hours of life but not later than three (3) days from complete delivery of the newborn. Newborn in intensive care: may be exempted from the 3-day requirement but must be tested by seven (7) days of age. Joint responsibility of the parent(s) and the practitioner or other person delivering the newborn to ensure that newborn screening is performed.  Newborn screening sample obtained at the birthing center Sample sent to the laboratory for NBS analysis NEGATIVE RESULT POSITIVE RESULT No further follow-up is required Further follow-up testing is required Follow-up testing is normal. Follow-up testing reveals that the Baby is not at increased risk to have baby has a specific disorder. an inherited metabolic disease. Treatment is started immediately. When are newborn screening results available? 7 working days from the time samples are received. Laboratory results indicating high risk to heritable diseases that were screened (+) will be immediately communicated and subjected within 24 hours for confirmatory test.  NEWBORN SCREENING Refusal to be Tested: on the grounds of religious beliefs, but shall acknowledge in writing their understanding that refusal for testing places their newborn at risk for undiagnosed heritable conditions. Refusal documentation shall be made part of the newborn's medical record and refusal shall be indicated in the national newborn screening database. Continuing Education, Re-education and Training Health Personnel The DOH, with the assistance of the NIH and other government agencies, professional societies and non-government organizations, shall: (i) conduct programs for health personnel on the rationale, benefits, procedures of newborn screening (ii) disseminate information materials on newborn screening at least annually to all health personnel involved in maternal and pediatric care. Licensing and Accreditation The DOH and the Philippine Health Insurance Corporation (PHIC) shall require health institutions to provide newborn screening services as a condition for licensure or accreditation.  IMPLEMENTATION Lead Agency The DOH shall be the lead agency in implementing this act. 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.  IMPLEMENTATION Advisory Committee on Newborn Screening Integral part of the Office of the Secretary of the DOH Functions: 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 recommend corrective measures as deemed necessary.  IMPLEMENTATION Advisory Committee on Newborn Screening. Composition: 1. Chairman: Secretary of Health 2. Vice Chairperson: Executive Director of the NIH Members: 3. Undersecretary of the DILG 4. Executive Director of the Council for the Welfare of Children 5. Director of the Newborn Screening Reference Center 6-8. 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. Term: three (3) representatives shall be appointed for a term of three (3) years, subject to their being reappointed for additional three (3) years period for each extension. Meeting: At least twice a year. The NIH shall serve as the Secretariat of the Committee.  IMPLEMENTATION 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. No Newborn Screening Center shall be allowed to operate unless it has been duly accredited by the DOH based on the standards set forth by the Committee. Every Newborn Screening Center shall: (i) have a certified laboratory performing all tests included in the newborn screening program, (ii) have a recall/follow up programs for infants found positive for any and all of the heritable conditions; (iii) be supervised and staffed by trained personnel who have been duly qualified by the NIH; (iv) submit to periodic announced or unannounced inspections by the Reference Center in order to evaluate and ensure quality Newborn Screening Center performance.  IMPLEMENTATION 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. Quality Assurance The NIH Newborn Screening Reference Center shall be responsible for drafting and ensuring good laboratory practice standards for newborn screening centers Database All Newborn Screening Centers shall coordinate with the NIH Newborn Screening Reference Center for consolidation of patient databases. The NIH Newborn Screening Reference Center shall maintain a national database of patients tested and a registry for each condition.  IMPLEMENTATION Newborn Screening Fees The PHIC shall include cost of newborn screening in its benefits package. To ensure sustainability of the National System for Newborn Screening, the newborn screening fee shall be divided and set aside for the following purposes: (4%) to the DOH's Centers for Health Development to be spent solely for follow-up services, education and other activities directly related to the provision of newborn screening services (4%) to the Newborn Screening Centers for human resource development and equipment maintenance and upgrading (4%) to the NIH Newborn Screening Reference Center for overall supervision, training and continuing education, maintenance of national database, quality assurance program and monitoring of the national program; and the balance for the operational and other expenses of the Newborn Screening Center. NEWBORN SCREENING AND INHERITED METABOLIC DISORDERS How much is ENBS? Expanded newborn screening costs ₱1,750 and is included in the Newborn Care Package (NCP) for PhilHealth members. What is Newborn Care Package? NCP is a PhilHealth benefit package for essential health services of the newborn during the first few days of life. It covers essential newborn care, expanded newborn screening, and hearing screening tests. What are the eligibility conditions for newborn to avail of the NCP? Newborns are eligible for NCP if ALL of the following are met: Either of the parents are eligible to avail of the benefits, Born in accredited facilities that perform deliveries, such as hospitals and birthing homes; and Services were availed of upon delivery. Newborn Screening Facility (NSF) A health facility that educates parents about NBS during the prenatal period, collects blood samples for NBS, sends the specimens to the NSC, recalls patients found positive in NBS, and assists in the management of patients. The following are the roles and functions of NSFs: Integrate NBS in its delivery of health services specifically maternal and newborn services. Serve as a collecting health facility for NBS Coordinate with duly accredited NSC covering their area Ensure that adequate and sustained NBS services such as information, education, communication, screening, recall, and management of identified cases are being provided in the hospital Establish an NBS team that will be responsible for: a. Collecting samples b. Sending samples to accredited NSC c. Prompt recall of positive patients d. Referral and management of patients Initiate an appropriate financial system that will ensure effective and efficient collection of fees and payment of NBS services to the NSC Conduct orientation and / or training of hospital staff on NBS Monitor and evaluate the implementation of NBS within the institution Define creative financial packages to make NBS accessible, particularly among the economically deprived populace Newborn Screening Center (NSC) A facility equipped with an NBS laboratory that complies with the standards established by the National Institutes of Health and provides all required laboratory tests and recall/follow-up programs for newborns with heritable conditions. Every NSC shall: Have a certified laboratory performing all tests included in the NBS program Have a recall and follow-up programs for infants found positive for any and all of the heritable conditions Be supervised and staffed by trained personnel who have been duly qualified by the NIH Submit to periodic announced or unannounced inspections by the Reference Center in order to evaluate and ensure quality NSC performance Newborn Confirmatory Center (NBCC) A facility identified by the DOH to be part of the National Comprehensive Newborn Screening System Treatment Network. It is equipped to perform confirmatory testing to ensure the accuracy of screening results. Newborn Screening Reference Center (NSRC) The central facility at the National Institutes of Health 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 on various aspects of the program, oversees content of educational materials, and acts as the Secretariat of the Advisory Committee on Newborn Screening. The roles and functions of the NSRC include: Providing technical assistance in setting up NSCs including training and capability building Defining testing and follow-up protocols Maintaining an external laboratory proficiency testing program Advocating and disseminating the importance of taking confirmatory tests through creation and distribution of IEC materials Allocating funds for the fellowships to ensure the availability of qualified health personnel who could be tapped by the NCBSS in the follow-up treatment and monitoring for prompt and proper management of newborn babies who screened positive Developing IC materials and training modules, among others, for dissemination to partners and facilities, for ENBS promotions Overseeing national testing database, case registries, and contents of registries Conducting regular monitoring and evaluation of the program Assisting in the national training activities of the program Processing the transfer of funds to the regional office Newborn Screening Continuity Clinic An ambulatory clinic based in a tertiary hospital and identified by the DOH to be part of the National Comprehensive Newborn Screening System Treatment Network. It is equipped to facilitate continuity of care for confirmed patients in its area of coverage. There are 33 continuity clinics in the country located in tertiary and government hospitals in 14 regions. MIMAROPA region is being handled by PGH NCR; Caraga region is being handled by SPMC Region 11 and; BARMM is being handled by CRMC Region 12. Licensing and Accreditation Certificate of Accreditation (COA) usually issued to NSCs valid for 3 years application to the Health Facilities and Services Regulatory Bureau (HFSRB), accompanied with a certification from the National Institutes of Health (NIH) License to Operate (LTO) authority given to NBCCs (a DOH licensed hospital-based tertiary clinical laboratory) valid only for 1 year application to the HFSRB accompanied with a certification from the newborn screening reference center (NSRC) that the facility is compliant to the technical standards set by the NSRC CONGENITAL HYPOTHYROIDISM The most common etiology of CH is thyroid dysgenesis (TD): absent thyroid, ectopic or hypoplastic thyroid. In rare cases, CH results from mutations in the genes that control thyroid gland development including thyroid transcription factor (TTF- 2) and pairedbox-8 protein (PAX-8 ). Rapid detection by newborn screening, prompt confirmatory testing and Levothyroxine administration can prevent severe mental retardation and impaired growth due to CH.  CONGENITAL ADRENAL HYPERPLASIA Congenital Adrenal Hyperplasia (CAH) is a group of disorders resulting from enzymatic defects in the biosynthesis of steroids. There are many enzymes involved in the synthesis of adrenal hormones but in about 90% of CAH, it is due to 21-hydroxylase deficiency. Others are due to cholesterol desmolase 11β-hydroxylase deficiency, 17β- hydroxylase deficiency and 3β-hydroxysteroid dehydrogenase. All forms of CAH are inherited in an autosomal recessive pattern. The mainstay of treatment in CAH is glucocorticoid and mineralocorticoid replacement therapy which corrects the cortisol deficiency and reverses the abnormal hormonal patterns. PHENYLKETONURIA Phenylketonuria (PKU) is a disorder of aromatic amino acid metabolism in which phenylalanine cannot be converted to tyrosine due to a deficiency or absence of the enzyme phenylalanine hydroxylase. The odor of the phenylketonuric patient is that of phenylacetic acid described as mousy, barny, or musty. Dietary management is key to treatment like complete avoidance of food containing high amounts of phenylalanine.  MAPLE SYRUP URINE DISEASE Maple syrup urine disease (MSUD) is due to a defect or deficiency of the branched chain ketoacid dehydrogenase complex in which elevated quantities of leucine, isoleucine, valine, and their corresponding oxoacids accumulate in body fluids. The increase in leucine may cause competitive inhibition with other precursors of neurotransmitters causing the neurologic manifestations. Long term treatment of MSUD is based on dietary restriction of branched- chain amino acids and supplementation of thiamine if proven beneficial; valine and isoleucine supplementation is also recommended.  GLUCOSE-6-PD DEFICIENCY G6PD-deficiency is an X-linked disorder found in both sexes but more males are affected. The most common clinical manifestation of G6PD deficiency is hemolytic anemia induced by various oxidative stresses. Other associated disorders to G6PD deficiency are decreased RBC lifespan and cataract formation. There is no cure for G6PD deficiency, but the main goal in the management is avoidance of oxidative insults [bacterial infections, viral infections, analgesics, antipyretics (aspirin), antibiotics (bactrim), anti-malarial drug (chloroquine), favism (soya food, fava beans), naphthalene balls] and blood transfusions for acute hemolytic crisis. GALACTOSEMIA Galactosemia is a rare genetic metabolic disorder that is inherited in an autosomal recessive manner. It is an inborn error of carbohydrate metabolism characterized by elevated levels of galactose and its metabolites due to enzyme deficiencies involved in its metabolism. Dietary elimination of milk and milk products containing lactose is the treatment for all types of galactosemia. There is no chemical or drug substitute for the missing enzyme at this time. PROGRAM STATISTICS Newborn Screened and Livebirth 1996 - 2022 NEWBORN SCREENING MILESTONES REFERENCES Notes on RA 9288 of Prof. John Jeffrey G. Pangilinan, RMT, MSMT Notes on RA 9288 of Prof. John Kenneth L. Pagdanganan, RMT https://www.doh.gov.ph/newborn-screening Republic Act No. 9288 https://lawphil.net/statutes/repacts/ra2004/ra_9288_2004.html DOH AO No. 2014-0045 or the Guidelines on the Implementation of the Expanded Newborn Screening Program http://mt-lectures.blogspot.com/2018/06/administrative-order-no-2014-0045.html https://www.newbornscreening.ph/images/stories/ResourcesTechnicalDocuments/Ex panded%20Screening%20Fact%20Sheets_Doctors_NSRC-INT-05_I1R1.pdf