More than 6,000 health professionals celebrate milestones and advances at the newborn screening convention PDF Print E-mail


MORE than 6,000 healthcare professionals attended the 20th National Newborn Screening Convention organized by the Newborn Screening Society of the Philippines, Inc. and UP Manila National Institutes of Health's Newborn Screening Reference Center (NSRC) in the interest of co-learning and collaboration.


The challenges caused by the COVID-19 pandemic have altered how continuing health education is managed. Implementers of newborn screening programs are quickly moving toward digitalization and going virtual. This made it simpler for advocates and health professionals to interact and exchange knowledge and experiences in newborn screening, either in clinical and community practice or research.


Dubbed "Milestones and Advances in Newborn Screening," the convention discussed a range of topics from myths and misconceptions about newborn screening to data gathering and current research efforts related to the program. It was held from Oct. 3 to 5.


"We are all here together and we are all here committed to save our babies," said Dr. Maria Rosario Clarissa Singh-Vergeire, OIC- Secretary of the Department of Health.

Dr. Maria Rosario Clarissa Singh-Vergeire, OIC-Secretary of the Department of Health, commends the newborn screening community for its innovative approaches to continue providing its services despite the difficulties caused by the Covid-19 pandemic.


In order to enhance the quality of newborn care, Singh-Vergeire reaffirmed the DOH's support for the Newborn Screening systems through training, promotion, monitoring and evaluation, and research. The importance of technology was truly brought to light during the pandemic. Accordingly, the NSRC is working closely with the DOH and other program partners in introducing different applications that will transform how stakeholders learn and secure information.


The three-day program consisted of nine plenary sessions and exhibits. It provided attendees a chance to update their professional skills, share research findings, and learn about regional and global newborn screening procedures. Health practitioners from all around the country who attended the open forum included nurses, medical technologists, midwives, doctors, nutritionist-dietitians, and chemists.


Pre-conference: Correcting Myths, Establishing Facts


Moderated by Dr. Genelynne Beley, follow-up head of Newborn Screening Continuity Clinic, Southern Philippines Medical Center, the pre-conference reviewed the fundamental information on newborn screening, examined and dispelled common myths about it, and the illnesses covered by the panel.


Correcting misconceptions, Dr. Barbra Charina Cavan, clinical geneticist and board of trustees of the Newborn Screening Society of the Philippines Inc. (NSSPI), explained that not all types of inborn disorders, chromosomal abnormalities, or developmental disorders are covered by the newborn screening program in the Philippines.


Additionally, a positive screening for any of the covered disorders does not mean that the baby is afflicted; it just means that he or she is at a high risk of developing it, thus, requiring an urgent confirmatory test.


Dr. Jochrys Estanislao, pediatric hematologist-oncologist at the Philippine General Hospital, tackled the varieties and severity of the G6PD Deficiency, adding that confirmatory testing is still required for G6PD positive screens so that people with normal results can live without worrying about the contraindicated food and drugs.


Dr. Joliza Patricia Caneba, unit head of the hemoglobinopathy reference unit of the UPM-NIH Institute of Human Genetics (IHG), presented the anatomy, symptoms, and implications of hemoglobinopathies, and emphasized the significance of routine immunizations, as well as the importance of tracking the patient's growth and keeping an eye out for anemia symptoms.


Dr. Nancy Honor, pediatric endocrinologist and follow-up head of the Newborn Screening Continuity Clinic at the Eastern Visayas Medical Center, considered the catastrophic and permanent effects of CAH and CH, which is why prompt commencement of treatment should be emphasized in the case of endocrine abnormalities.


In addition, Honor stressed that not all endocrine abnormalities would result in goiter and that vaccinations should still be given to patients because its advantages outweigh the risks.


Dr. Mary Erika Orteza, pediatrician-clinical geneticist at the Baguio General Hospital and Medical Center, demonstrated that dietary therapy is key to managing MSUD and that MCAD patients do not require extra calories.


Dr. Kristin Grace Guerrero-Gonzalez, clinical geneticist and follow-up head of the Newborn Screening Continuity Clinic at the Corazon Locsin Montelibano Memorial Regional Hospital, addressed the misconceptions about inborn errors of metabolism (IEMs) and emphasized that IEMs may present in various ways, but not always at birth or in the bloodline.


Dr. Marie Julianne Racoma, pediatrician - clinical geneticist at the Makati Medical Center, provided information on the needs of people with Tyrosinemia type 1 (Tyr 1) and Glutaric aciduria type 1 (GA 1). GA1 patients require a diet low in protein but can still receive breast milk and small amounts of low-protein meals. On the other hand, Tyr 1 patients can be treated with nitisinone, a medication used to slow the effects of Tyr1, enabling them to lead normal lives.


Jeanne Ruth Basas, metabolic nutritionist and dietitian at the UPM-NIH IHG Clinical Genetic Services, sorted through the truths and myths surrounding the dietary care of ENBS patients, noting that breastmilk is still the best option for infants, including those with IEMs, with the exception of galactosemia.


The pre-conference was opened by Dr. Bernadette Halili-Mendoza and Dr. Barbra Charina Cavan, overall chair and pre-convention committee chair of the 20th National Newborn Screening Convention, respectively.

During the open forum at the pre-convention on October 3, 2022, resource persons interact with attendees and address questions regarding the common misconceptions about newborn screening.

Main Convention: Milestones and Advances in Newborn Screening


On the first day of the main convention, Dr. Rizalina Racquel Gonzalez, NSSPI president, welcomed the participants, while Dr. Michelle E. Abadingo, head of Scientific Program and incoming NSRC director, gave the opening remarks.


Dr. Ma-Am Joy Tumulak, genetic counselor at the UPM-NIH IHG, served as the moderator. Ma Elouisa Reyes, unit head of the program support unit of the UPM-NIH NSRC, highlighted the technological advancements, milestones, and other development goals of the program. She informed the participants that the program began automating its laboratory workflow and follow-up procedures as early as 2004 through the use of case management and laboratory information management systems.


Since then, a number of technologies have been used to improve the program's data processing and information dissemination to its stakeholders.
UP Manila chancellor Carmencita Padilla, one of the proponents of newborn screening in the Philippines, spoke on how artificial intelligence (AI) is being used, specifically for newborn screening, and how it fits into the Philippine program.


She outlined how the last several years had pushed the world toward digitization, particularly in light of COVID-19, and how the value of technology had allowed us to continue living our lives in spite of the pandemic. Going forward, she encouraged the participants to accept and embrace the fact that artificial intelligence will be a component of the toolkit being employed by newborn screening in the Philippine context.


Making It Work with NGOs and Parent Organizations

Cynthia K. Magdaraog, president of the Philippine Society of Orphan Disorders (PSOD), provided a brief overview of the PSOD, a non-stock organization that supports patients with rare diseases and their families by helping them get treatments.

Magdaraog shared that since the PSOD's creation in June 2006, it has been creating awareness and advocacy campaigns for patient support and initiating fund raising events during the National Rare Disease Week.

A year after the birth of his daughter, Alain Benedict Yap, founding member of CAHSAPI, established the support organization for CAH families and their children. CAHSAPI was coined from the Tagalog word "kasapi," which means to be a member or part of a group. Yap co-founded the group with the pediatric endocrinology division of the PGH because there was not much information available about CAH in 2005.

He shared CAHSAPI's efforts to work closely with PGH medical professionals and other foreign support organizations, including CLAN in Australia, and the CARES Foundation in the US.


The parent support group for patients in the Philippines with Congenital Hypothyroidism (CH), on the other hand, was introduced by group member Cherilyn Aguilos-Tan.

In 2017, Congenital Hypothyroidism PH was established as an online support community to raise awareness on CH and help patients and their families reach a larger audience, and promote the involvement of their tiny community in their advocacy.

In order to highlight the patients who were helped by neonatal screening, the convention also featured the "A Hundred Dreams" project. This project features an e-book of more than 100 children with conditions, their lively images, and anecdotes about what they want to be when they grow up. Learning about their experiences helps bring the realities of genetic abnormalities to life and demonstrates the significant impact that timely diagnosis and newborn screening may have on children's ability to reach their full potential.


Understanding the Research Data

Predictive factors of transient congenital hypothyroidism was the topic of a retrospective study presented to the group by Dr. Lorna Abad, pediatric endocrinologist and professor at the UP-PGH Department of Pediatrics.

Congenital hypothyroidism affected one in 2,805 people based on data as of December 2018, Abad reported. The prevalence rates of CH range from 12 to 53%, and it may be temporary. Delayed differentiation of permanent from transient CH can lead to unnecessary medication, repeated blood tests, unnecessary costs, and financial hardships because of follow-up clinic appointments.

Dr. Ebner Bon G. Maceda, assistant director of the UPM-NIH IHG, presented his study entitled, "Clinical, Biochemical and Molecular Characteristics of Filipino patients with Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) and Medium-Chain Acyl- CoA Dehydrogenase Deficiency (MCADD)."

Its initial data indicated that all 19 patients who were recruited in the study were asymptomatic; patients were only fagged as MCADD and VLCADD through ENBS and subsequent biochemical studies. Hence, early detection and diagnosis are very essential.


First Case of Cystic Fibrosis in PH Detected Through NBS

Dr. Conchita G. Abarquez, unit head of the Newborn Screening Center-Mindanao, presented the first confirmed case of cystic fibrosis (CF) in the Philippines through the newborn screening program.


On the second day of the virtual National Newborn Screening Convention, Dr. Conchita Abarquez presents the first confirmed case of cystic fibrosis (CF) in the Philippines through the newborn screening program.


The patient may be the first CF case detected through expanded newborn screening but the ICD-10 registry database of the Philippine Pediatric Society has recorded more than 50 cases of CF from January 2006 to present. Cystic fibrosis affects epithelial cells of several organs such as the lungs, intestines, pancreas, hepatobiliary system, vas deferens and the sweat glands, with pulmonary consequences as its most serious complications.

The clinical and molecular profile of tyrosinemia type 1 cases in Mindanao was also presented by Abarquez. She presented a case series report of four newborns, which provided an example of how early diagnosis and treatment can enhance patient outcomes and slow the progression of the disease.


Multimedia and Newborn Screening Research

Dr. Christine Mae Avila, clinical geneticist and medical specialist of the UPM-NIH IHG, moderated the second day of the convention. It began with the introduction of the program's new learning resources, the ENBS mobile app and the digital TV series "Newborn Screening in Focus." Both technologies seek to empower the NBS frontliners and share knowledge with a greater reach.

For all the NBS healthcare professionals, the ENBS mobile app will serve as a one-stop resource for all the information they require on newborn screening. A Rewards Program that healthcare professionals can utilize to accrue points and redeem with gift cards from partners is one of its features. On the other hand, the "Newborn Screening in Focus" series will serve as a training resource for newborn screening coordinators. Different facets of the newborn screening program are covered in each episode. Together, the UP Open University, TVUP, and the Newborn Screening Reference Center have made this project feasible. Following this is a back-to-back session on treatment options for specific illnesses.


Liver Transplantation a Permanent Solution for Metabolic Diseases


One of the plenaries focused on liver transplantation (LT) as a long-term remedy for metabolic disorders after the case-based discussion.

Dr. Mary Anne D. Chiong, clinical geneticist-metabolic specialist at the UP-PGH Department of Pediatrics, outlined the types of IEM intoxication that will benefit from liver transplantation (LT).


The indications, consequences, and challenges linked to each of the illnesses were reviewed by Dr. Karen Sofa C. Mercado, pediatric gastroenterologist-hepatologist at the Makati Medical Center.

She emphasized the need for multidisciplinary and specialized lifelong treatment. It was noted how medicinal management will still be a staple while awaiting possibilities for LT.


Dr. Vanessa de Villa, liver transplant surgeon and head of the Center for Liver Disease Management and Transplantation at the Medical City, offered a tour of the LT process in the Philippines, showcasing PhilNOS, a registration site for both living and deceased transplant donors.


She said that LT is a treatment option that can provide excellent survival outcomes despite the need for proper metabolic disease patient optimization and preparation prior to LT, as well as a multidisciplinary team and support services, in order to ensure the success of LT in the Philippines.


Bone Marrow Transplantation and Gene Therapy in Beta-thalassemia


Since beta-thalassemia is one of the most often documented conditions under the NBS Program, it was the subject of the plenary on "Bone Marrow Transplantation and Gene Therapy in Beta Thalassemia."

Dr. Maria Beatriz Gepte, pediatric hematologist and chair of the NBS Experts' Committee on Thalassemias, discussed the medical management of thalassemia, and presented certain difficulties.

Dr. Luz del Rosario, pediatric hematologist- oncologist at St. Luke's Medical Center, talked about the benefts and drawbacks of hematopoietic stem cell transplantation as a proven curative treatment for transfusion- dependent thalassemia.

Dr. Vip Viprakasit, director of the Siriraj Center of Excellence on Cell and Gene Therapy, Mahidol University in Thailand, discussed the indications and critical factors that affect gene therapy for transfusion- dependent thalassemia patients.


This was followed by a Q&A session with the participants. Resources, compliance, and cost-related obstacles were also noted.

On October 5, 2022, specialists answer queries on gene therapy and bone marrow transplant in beta thalassemia after the lectures.


Current Researches on ENBS-Covered Disorders

The topic of "Current Researches in Newborn Screening" was presented during the last day of the convention.

Dr. Michelle Abadingo talked about screening for maternal carnitine transport defects and 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency. Her research emphasized the importance of maternal workup for newborns who screened positive for the two disorders.

According to the results of a study by Dr. Patrick Jose D. Padilla, chief resident of the UP-PGH Department of Obstetrics and Gynecology, on the knowledge, attitude, and practices of healthcare professionals in the ENBS program, ENBS practices with public safety precautions were strengthened by the healthcare professionals' adequate knowledge and positive attitudes despite the difficulties faced by the ENBS during the pandemic.

The importance of providing genetic counseling services on how parents use them to advise and guide their decisions was highlighted in Graciel Mae Canoy's study on the role of genetic counselors in the follow-up of positive screened individuals with MSUD. Canoy is a follow-up nurse-genetic counselor at the Newborn Screening Center-Mindanao. After three sessions, Roxanne Janica Merencilla, metabolic nurse at the IHG, talked about how the moms' abilities in gathering Dried Blood Spot samples maintained an acceptability rate of above 94%. This instills confidence in the caregivers, which will be helpful for patients who need regular monitoring. As communicating the results has proven to be a key step in managing patients with MSUD, Kevina Dajoyag, also a metabolic nurse at the IHG, explored the perspectives of Filipino moms of children with MSUD and healthcare professionals on diagnosis communication to enhance the framework for better service. The Philippine Health Insurance Corporation (PhilHealth) Newborn Care Package implementation updates and other PhilHealth policies and efforts that are currently being carried out to enhance universal healthcare were also covered by Dr. Mary Antonette Remonte, benefits development and research department senior manager, Philippine Health Insurance Corporation.


Through these sessions in a virtual platform, attendees were able to engage in conversations through the chat and Q and A functions allowing for participants to drive the interaction with presenters. After three years of virtual conventions, the organizers look forward to welcoming attendees back to Manila next year.

The National Newborn Screening Convention, held every year in October, convenes participants from different health professions to learn from local and international experts, program consultants, and program implementers. The topics constantly follow the theme of the Newborn Screening Awareness Week Celebration every first week of October in accordance with Presidential Proclamation No. 540 dated Jan. 20, 2004 by then President Gloria Macapagal Arroyo.

*First published on Philippine Star, October 9, 2022