WHO, DOH Urge Filipino Healthcare Professionals to Accelerate Expansion Towards a More Comprehensive Newborn Screening

WHO, DOH Urge Filipino Healthcare Professionals to Accelerate Expansion Towards a More Comprehensive Newborn Screening

Written by Louise A. Barcial 


“Now is the appropriate time for us to look at newborn screening holistically,” advocated Dr. Ayesha Mariette De Costa, scientist and medical doctor of the World Health Organization’s (WHO) Department of Maternity, Neonatal, Child, and Adolescent Health to the participants of the newborn screening (NBS) convention held on October 4-5, 2023, at the Sofitel Philippine Plaza, Pasay City.


LEFT: World Health Organization’s (WHO) Department of Maternal, Newborn, Child, and Adolescent Health Scientist Dr. Ayesha Mariette De Costa delivers the keynote address, stressing the importance of a comprehensive newborn screening, the need for surveillance of birth defects, and the importance of evidence-based medicine for program planning and creating guidelines for screening and management.
RIGHT: Child, Adolescent, and Maternal Health Division Chief Dr. Manuel Vallesteros of the Disease Prevention and Control Bureau stresses that health issues in children, adolescents, and mothers are interrelated.


Department of Health (DOH) Secretary Teodoro Herbosa is one with the WHO in striving for the continuous improvement of the Philippine newborn screening program. Delivered through a recorded video, Herbosa, in reference to the convention’s theme of Novel, Bridging Strategies in Newborn Screening, said, “It challenges us to seek out emerging technologies and research breakthroughs that can further redo the accuracy and efficiency of the screening processes. We must convene at the cutting edge of medical science to provide the best possible care to our newborns.” In the pursuit of achieving quality and accessible universal healthcare for Filipinos, Dr. Herbosa noted that the department has included technological advancement and the provision of quality services in its action point agenda.


Participants in the convention were treated to ten plenary sessions in the main convention and two learning tracks during the preconvention.


The first plenary session led by National Scientist, University of the Philippines-Manila Chancellor, and one of the proponents of the NBS program in the Philippines, Dr. Carmencita Padilla, served as a nod to the appeal of De Costa and Herbosa. Padilla shared that after years of lobbying for the establishment of a Philippine Birth Defects Registry, the DOH is now working on a policy to establish and support the program. A Birth Defects Core Group has been established, consisting of doctors from the National Institutes of Health (NIH), UP Manila, to set up a registration of visible birth defects such as neural tube defects, clubfeet, cleft lip and/or palate and omphalocele/gastroschisis.


Padilla also reminded the participants that, as healthcare professionals, they are bound to address Sustainable Development Goal (SDG) number 3. “The SDG, as we all know, is a call to action because we want to end the challenges of poverty and inequality, focusing our attention on SDG 3: Good health and well-being.”


The clinical geneticists and fellows in training gather during the 21st national newborn screening convention. (Standing from L-R, 1st row) Dr. Leniza De Castro-Hamoy, Dr. Christine Mae Avila, Dr. Conchita Abarquez, Dr. Carmencita Padilla, Dr. Michelle Abadingo, Dr. Ebner Bon Maceda, and Dr. Maria Melanie Liberty Alcausin (Standing from L-R, 2nd row) Dr. Jazmine Rosanna Feliciano, Dr. Suzanne
Marie Carmona-Barrera, Dr. Mary Erika Orteza, Dr. Quino Alden Alberto, Dr. Gay Lorainne Cordova, Dr. Celenia-Jo Cagata, and Dr. Mary Florlean Quinio.

Newborn screening is a national public health program for the early identification of congenital disorders. Shortly after 24 hours from birth, a few drops of blood are drawn from the baby’s heel, blotted on a special absorbent filter card, and sent to newborn screening centers for testing. Track 1 of the preconvention spotlighted the basics of newborn screening and the importance of doing the procedure properly.


“The goal of the program is [that] by 2030, all Filipino newborns are screened and properly managed for the more common and life-threatening congenital disorders,” says Dr. Bernadette Halili-Mendoza, Unit Head of the Newborn Screening Center Central Luzon (NSC-CL), as she opened the Track 1 discussion.


Dr. Maria Paz Virginia Otayza, Unit Head of the NSC Northern Luzon, reiterated the importance of conducting the newborn screening procedure flawlessly for the correct interpretation of results. NBS sample collectors must consider the preparation of necessary materials and ensure that clear, legible, and complete information is written on the NBS filter card, as well as the right time, place, and collection method.


Saving babies does not end in the early detection of disorders; timely and proper management is just as important in accomplishing this task. This was highlighted by Dr. Anna Lea Elizaga, Unit Head of the NSC-NIH, as she underscored the best time to treat the newborn screening patients depending on their disorder. “Treatment beyond this period will put the newborn babies at risk of mental retardation, death, and other irreversible effects,” pointed out Elizaga.


Dr. Crislyn Samia, Follow-up Head of the NSC-CL, emphasized the crucial role of the short-term follow-up team in ensuring timely recall and management of newborns. “The collective effort of all NSCs, NSFs, CHDs, and the parents is vital in achieving this goal of saving newborns.”


Confirmed patients in the newborn screening program are closely managed by the Newborn Screening Continuity Clinics (NBSCCs) to ensure the continuity of appropriate treatment and care management. NBSCC Follow-up Head in Southern Philippines Medical Center Dr. Genelynne Juruena-Beley highlighted some of the accomplishments of the Davao Region in the long-term management of patients. Beley featured the establishment of four new satellite clinics in the last two years in Region 11, as well as the advocacy activities done by the clinics to foster a community of care for patients.


Newborn screening medical experts also discussed the basics of handling some of the congenital disorders. Dr. Hana Barbra Lo from the NSRC Experts’ Committee on Congenital Hypothyroidism (CH) provided the basics of screening, diagnosis and management of CH and Congenital Adrenal Hyperplasia (CAH). Dr. Christine Mae Avila, a medical specialist at the Center for Human Genetics Services (CHGS), presented an overview of the metabolic disorders in the expanded newborn screening (ENBS) panel. Finally, Dr. Maria Liza Naranjo, Associate Professor of the St. Luke’s Medical Center College of Medicine, discussed the basics of hereditary red blood disorders such as G6PD deficiency and Thalassemias.


Medical specialists and nurses from several continuity clinics across the country pose for a group photo after the preconvention sessions on Enhancing the Management of Long-term Patients.

With the focus on patient follow-up and aspects of early intervention, the Learning Track 2 of the preconvention featured talks on improving patient outcomes by strengthening skills in developmental surveillance.


Dr. Maria Beatriz Gepte of the Philippine Children’s Medical Center (PCMC) presented the different types of Thalassemia, their severity, and management. Gepte added that through the years, there have been many advances in the diagnosis of thalassemia, and that “nowadays, patients diagnosed with the full spectrum of severity of thalassemia can even survive till adulthood.”


Dr. Ma. Anna Lourdes Optimal Moral of the Philippine General Hospital (PGH) underscored the role of development surveillance in the successful management of long-term patients. She stated that development can be achieved through effective developmental surveillance at every child visit and administering a developmental screening tool during continuity clinic visits.


Dr. Lim-Dungca of PCMC also emphasized that it is imperative to intervene early to maximize the achievement of important milestones and minimize complications due to the condition. Parents are co-inventors of the “EPICC” journey –early intervention, proper assessment, individualized intervention, and collaborative, constant monitoring are important for participative management.


Physical therapist Eleonor Rose Lopez of the Alternative Learning Resource School Phils advises physical therapists that it is best to advise the parents on exercising proper handling and stimulation, and all activities that facilitate movement. Moreover, occupational therapist Richard So of RLS Therapeutic Learning Center recommended that practitioners in occupational therapy may participate in developmental surveillance by drawing on their knowledge of client’s behaviors, routines, roles, and environments.


Speech pathologist Suselyn Pascual of the Philippine Association of Speech Pathologists stressed that registered speech language pathologists do not only target spoken language, but explore other viable options to enable clients to communicate their thoughts, intents, and feelings, among others.


The panelists in Plenary 7 are presented with certificates of appreciation after the interesting presentations of collaborative management in the Newborn Screening Network.

Dr. Rizalina Racquel Gonzalez, President of the Newborn Screening Society of the Philippines, Inc. (NSSPI) welcomed and thanked the 800 participants for carrying out the crucial public health initiative despite the challenges at the height of the pandemic during the first day of the convention.


The importance of collaborations and integration in the newborn screening program was highlighted in the opening remarks of Dr. Michelle Abadingo, Newborn Screening Reference Center (NSRC) Director and overall chair of the convention. Collaborations will allow the newborn screening network to provide better services to newborns, while integration is a step forward by the program to achieve a more comprehensive public health system.


Following-up patients for treatment has not always been easy, according to Dr. Sharon Gawigawen, Follow-up Head of the NBSCC Baguio General Hospital and Medical Center (BGHMC). One of the pressing concerns of the NBSCCs is the lack of subspecialists in certain regions. Subspecialists are critical to the long-term care of patients. Partly addressing this concern was the establishment of Philippine Society for Pediatric Metabolic and Endocrine (PSPME) Follow Up Clinic so that “efficient long-term management of these patients is according to current medical recommendations,” said Gawigawen. PSPME conducts free consultations and community visits to patients in the NBS program. 


Adding to the discussion on collaborations in patient care was the President of the Philippine Society for Developmental and Behavioral Pediatrics, Dr. Jacqueline O. Navarro. She introduced the effectiveness of the hybrid model of care for developmental surveillance of newborn screening patients and highlighted the importance of parent empowerment and training to facilitate optimum development.


Researches in the field of newborn screening were also presented in the main convention. In an initiative by NSC Mindanao, molecular testing was incorporated to confirm the results of patients who were positive for any of the inherited metabolic disorders (IMD). Dr. Conchita G. Abarquez, NSC Mindanao unit head explained that “molecular testing solidifies the clinical and biochemical diagnosis of most IMD cases.”


With the power of digital media in disseminating health information, Institute of Human Genetics Assistant Director Dr. Ebner Bon Maceda conducted a social media content analysis of Public and Private Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Facebook Groups. It was found in his study that content analysis contributes to further understanding of the information needs of parents and caregivers. As a recommendation, advocacy and communication campaigns developed by NSRC and other health organizations can be improved by using the same strategies in the study. Similarly, Dr. Ma-Am Joy Tumulak, Research Faculty of IHG, presented the findings in their study “A Content Analysis of Facebook Groups on Congenital Adrenal Hyperplasia.” She found that social media plays an important role in fostering an online health community among families with CAH, as it creates an avenue for information exchange and sharing of medical management. Results also suggest that CAH Facebook groups are used for practical knowledge to navigate health structures and access CAH-related needs.


Dr. Mary Erika Orteza, medical specialist of the BGHMC, presented their research about galactosemia among positive-screened patients and concluded that “the clinical profile may not be helpful in predicting which patients will undergo a lactose challenge, but a one-week lactose challenge may be the optimal time to reach a disposition since the majority had an outcome on the first trial of a one-week lactose challenge.”


More on the current research in newborn screening, Follow-up Head Dr. Suzanne Marie Carmona of the NBSCC West Visayas State University Medical Center presented a retrospective study on clinico-demographic profiles and outcomes of patients diagnosed with inborn errors of metabolism through expanded newborn screening in the Visayas region. She found that knowledge of the geographical distribution of patients with IEMs serves as a guide in the proper allocation of resources. Moreover, the presence of isolated cases of IEMs with high risk for metabolic crisis highlights the need for an efficient system for storing and delivering medical food and medications.


One of the qualities highly required for a newborn screening practitioner is effective communication. This has been explained in the series of cases presented by genetic counselor Edbert Jasper Jover of NSCMindanao, nurse and dietitian Aster Lynn Sur of the Center for Human Genetics Services (CHGS), and developmental psychologist Dr. Angelita Rosario Sievert-Fernandez of Kythe Foundation, Inc. These panelists reinforced that practicing empathy and using effective communication strategies based on the state of affected families have a higher potential for compliance to treatment.


Two disorders were newly added to the panel of disorders screened in some newborn screening program overseas. In an effort to make a more comprehensive newborn screening program, Dr. Michelle Abadingo, Director of the Newborn Screening Reference Center (NSRC) presented how the program can apply the considerations used in adding spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) in the panel of disorders screened in the Philippines.


Neonatologist Dr. Sheryl Del Rosario-Famadico of the Makati Medical Center shared some considerations for conducting newborn screening in preterm, low birthweight, and sick babies. Rosario-Famadico explained that the critical and intensive treatment and unique and diverse genetic and biochemical nature of the infants pose difficulty in screening at the optimal time, making the interpretation of results difficult for some disorders. She recommended appropriate follow-up to facilitate an early diagnosis.


Adding to the discussion on newborn screening issues in special populations, pediatric endocrinologist Dr. Eve Fernandez of The Medical City reminded that “there are babies who belong in high risk population – pay particular attention with Down syndrome, midline defects, same sex twins with congenital hypothyroidism, ambiguous genitalia, and a male baby with a sibling with CAH” as these babies have a high risk of having an endocrine disorder.


The Philippine newborn screening program is composed of a network of health institutions, each interdependent on the effectiveness of another. A panel of speakers from various units of the program expounded on the importance of collaborative management in the newborn screening network. Institute of Human Genetics Director Dr. Maria Melanie Liberty Alcausin, Newborn Screening Center-Visayas Unit Head Dr. Karen June Ventilacion, NBSCC-Cotabato Regional and Medical Center Follow-up Head Dr. Maria Christina Bondoc-Eran, DOH Central Luzon Center for Health Development Senior Health Program Officer Madeline Gayle Tayag, and UP-PGH Newborn Screening Nurses’ Core Group President Ma. Salve Sibulo highlighted that a team-based care approach fosters continuity of care and results in better patient outcomes and quality of life.


Expanded newborn screening costs ₱1750, but through the PhilHealth Circular No 2018-0021, the full coverage of expanded newborn screening was included in the Newborn Care Package (NCP) for PhilHealth members. Medical officer Dr. Mary Antonette Yason-Remonte of the Philippine Health Insurance Corporation (PhilHealth) provided updates in PhilHealth’s NCP. This included updates on claims filing and utilization, incentive awards for quality, and provider payment reforms.


Finally, Dr. Manuel Vallesteros, Chief of the Child, Adolescent and Maternal Health Division of the Department of Health walked the audience through the DOH’s mission and vision and its eight-point action agenda. He also reviewed the audience on the Omnibus Health Guidelines and DOH’s plan to shift its approach from disease to people and place greater concentration on the 7 priority areas for health promotion.


The newborn screening program is not just a program but a system, and every stakeholder carries out specific tasks to ensure timely diagnosis of a positive screen and continuous care of patients with confirmed metabolic and endocrine conditions. NSSPI Vice President Dr. Sylvia Estrada closed the 2-day event with the hope that the event was a ‘high yield’ experience for all and that every participant found time to reconnect with the newborn screening family.