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World of Genomics: The Philippines

In this week’s World of Genomics, we explore the Philippines, an archipelago in Southeast Asia famous for its stunning natural beauty, rich culture and warm hospitality. While the country is renowned for its vibrant traditions and breathtaking landscapes, its presence in the field of genomic medicine is also gaining attention. In recent years, the Philippines has seen advancements in personalised health initiatives and genomics research, showing its commitment to genomic medicine.

The Population of the Philippines

The Philippines is a diverse nation comprising thousands of islands in the western Pacific Ocean. With a rich history influenced by Malay, Chinese, Spanish, and American cultures, the genetic composition of the Filipino population reflects this multicultural heritage. Migration, trade, and colonization have contributed to the unique genetic diversity seen in the Philippines.

Summary statistics

  • Land area: Approx. 300,000 km2
  • Gross domestic product (GDP):
    • Total: 394.1$ billion
    • Per capita: 3,460$

Population statistics

  • Population size: 113 million
  • Birth rate: 22 per 1000
  • Death rate: 7 per 1000
  • Infant mortality rate: 21 in 1000
  • Average life expectancy:  69
    • Male:  67
    • Female: 71
  • Ethnicity: The Filipino population is ethnically diverse, with various groups, including Tagalog, Cebuano, Ilocano, and others.

Healthcare System

The healthcare system in the Philippines is a mix of public and private services. Public hospitals focus their efforts on preventive and primary care while also taking the lead in educating the public on health issues. On the other hand, private hospitals focus on specialized care for cardiovascular diseases, cancer, pulmonology and orthopaedics. The Philippine healthcare system continues to grow as many private equities pursue investments, acquire smaller hospitals and upgrade hospital infrastructure. Large hospital groups continue to drive hospital development throughout the country and provide capital to upgrade facilities and modernize equipment.

Access to healthcare can vary significantly depending on location, with urban areas having better facilities than rural areas. The government has been working to improve healthcare access and quality, but challenges remain, particularly in remote regions. In 2019, the Philippine Government signed the Universal Health Care (UHC) Law, allowing all Filipinos (including Overseas Filipino Workers) access to healthcare services under the Government’s health insurance program (PhilHealth). The UHC aims to cover at least 50% of medical expenses to encourage Filipinos to visit speciality doctors and undergo advanced medical procedures.

The Philippines is seen as an emerging medical tourism destination and currently ranks 24th out of 46 countries on the 2020 – 2021 Medical Tourism Index, with competitive prices and English-speaking medical professionals. They ranked 57th out of 195 countries on the 2021 Global Health Security Index, taking 5th place out of the 11 countries in Southeast Asia with a 45.7 index score. This shows a moderate level of health security.. The country scored lowest on their prevention ability, particularly regarding immunisation and linking public health and security authorities.

Health Priorities

Cardiovascular diseases, cancer and communicable diseases, such as tuberculosis and dengue fever, are some of the leading health concerns in the Philippines. In recent years, the country has made strides in combating infectious diseases, but lifestyle-related conditions such as diabetes and obesity are emerging health challenges. Additional challenges within the system include disparities in healthcare access between urban and rural areas, limited resources and infrastructure in some regions, and high out-of-pocket expenses for many individuals.

In the 2016 – 2022 Philippine Health Agenda, reducing health inequities was singled out as the most important priority among three health guarantees. Similarly, one of the priority agendas of President Ferdinand R. Marcos Jr. is affordable health care for all.

The Department of Health aims to achieve four major goals. These are: (i) Improving the social determinants of health; (ii) Enabling healthy choices and behaviours; (iii) Improving the Filipinos’ access to quality and efficient health care; and (iv) Strengthening of the country’s health systems.

The Philippines has been an active Member State of the World Health Organisation (WHO) and is the home of the WHO Regional Office for the Western Pacific. The work of WHO and the Department of Health focuses on five strategic priorities: saving lives, promoting well-being, protecting health, optimizing the health architecture and using platforms for health.

The top three causes of death in the country from January to December 2022 were ischaemic heart diseases (114,557 cases or 18.4% of the total deaths in the country), neoplasms (63,377 deaths or 10.2%) and cerebrovascular diseases (63,281 recorded cases or 10.2%). Deaths due to diabetes mellitus recorded 39,193 cases or 6.3% share, making it the fourth leading cause of death, while deaths due to hypertensive diseases, which ranked fifth, recorded 35,641 cases or 5.7% share.

The leading causes of death in the same period in 2021 were ischaemic heart diseases, cerebrovascular diseases and the COVID-19 virus.

Genomic Medicine Capabilities

Genomic medicine in the Philippines is an evolving field that has been gaining importance in recent years. Although the country has made significant contributions to genetics research, there is still room for growth regarding personalised medicine and genomics initiatives.

Key Developments:

  • Genomic research initiatives are underway in collaboration with local and international organisations.
  • Efforts are being made to promote genetic testing and counselling.
  • The Philippines is exploring the integration of genomics into healthcare to address hereditary diseases and enhance personalised treatment.
  • Significant strides towards forensic investigation have been made.

Notable Projects

DOST Genomics Program: Accomplishments of this program include the commercialisation of rapid dengue diagnostic kits and the COVID-19 test kits developed by Manila HealthTek Inc., and the identification of genetic variations and molecular features associated with hypoglycaemic response in diabetes, leptospirosis, and sepsis complications studied by local experts and scientists. In 2022 alone, the DOST allocated more than 320 million pesos of funding support for health research in genomics.

Filipino Genomes Research Program (FGRP):  Aims to examine genetic data that are attributable to the Filipino population. Under the FGRP, a comprehensive Filipino DNA marker database for identifying criminal offenders and supporting other DNA profiling applications has been created.

Project by the University of the Philippines – National Institutes of Health (UP-NIH): Aims to investigate the uniquely Filipino disease X-Linked Dystonia-Parkinsonism (XDP).

Genomics for a better Philippines | STRATEGIC PLAN 2019-2025 | Philippine Genome Center University of the Philippines: The Center catalyses the advancement of genomics research and applications in the Philippines through collaborative initiatives and multi-sectoral partnerships. Goals for 2019 – 2025 are (i) To position the PGC as an industry leader in big data analytics involving genomics research in the Philippines, (ii) To increase recognition and stakeholder appreciation of genomics, (iii) To ensure operational efficiency as a research unit and service provider, (iv) To explore new business models and maximize existing ones for resource generation and program continuity, (v) To establish new linkages and maintain collaborations with local and international institutions.

Notable Organisations and Companies

The Philippine Genome Center (PGC): A genomics-focused multidisciplinary research unit of the University of the Philippines. PGC offers a full range of DNA sequencing services from single gene sequencing to high-throughput sequencing and a suite of Bioinformatics services from scripting to full project workflows. In fulfilling its mandates, the PGC welcomes collaborations on research, capacity building and institutional linkages for the development of genome-based applications.

The Institute of Human Genetics (IHG): The IHG is the largest provider of genetic services in the country. To date, the Institute has 7 units – all of which are ISO 9001:2015- certified – providing support, research and excellence in training, education, comprehensive patient care, counselling and family support.

  • The Clinical Genetics and Research Unit: Since 1990 the unit has provided free comprehensive clinical evaluation, appropriate therapeutic management, and genetic counselling and dietary services to families and individuals with or at risk for a genetic or an inheritable disorder. This unit, being the service arm of the institute, looks after patients referred at the Philippine General Hospital under the Division of Clinical Genetics of the Department of Paediatrics. The unit is the technical partner of the Department of Health in its Integrated Rare Disease Management Program and assists in the implementation of the National Comprehensive Newborn Screening System. The unit is composed of three major sub-units:
  • Center for Human Genetics Services (CHGS), Research and Special Projects, and Education and Training: CHGS has two satellite centres in Visayas and Mindanao. This facility covers island wide services (Luzon, Visayas Mindanao) and facilitates comprehensive clinical evaluation, appropriate management (diagnostic and therapeutic) and genetic counselling services to families or individuals with genetic conditions.
  • The Cytogenetics Laboratory provides comprehensive diagnostic services for postnatal congenital and neoplastic/oncologic disorders. They also offer constitutional diagnostic services, neoplastic diagnostic services and fluorescence in situ hybridization. (Since 1991)
  • The Newborn Screening Center-NIH is the first DOH-accredited NSC in the country and screens for 29+ metabolic and other inherited congenital disorders to prevent mental retardation and death. The NBS Center not only functions as a screening laboratory but also has a Follow Up Section in charge of short-term recall and follow up of positive screened cases. Currently, NSC-NIH receives samples from all birthing facilities in the National Capital Region (NCR), Region IV-B (MIMAROPA) and Region V (BICOL). (Since 1997).
  • The Molecular Genetics Laboratory is primarily engaged in research that aims to study the basis of common genetic diseases. Using relevant technology, its studies seek to gain knowledge that can be translated to the improvement of diagnosis and treatment of diseases that are unique and common to Filipinos. To this end, the Laboratory also offers services that will aid clinicians and health researchers in their studies, as well as patient services for the screening and diagnosis of genetic diseases, particularly disorders screened via the Expanded Newborn Screening Program of the Philippines (Since 2001).
  • The Biochemical Genetics Laboratory is a specialized laboratory which provides biochemical testing and results interpretation for the diagnosis, study and clinical management of inborn errors of metabolism. The Biochemical Genetics Laboratory conducts both qualitative and quantitative analysis of biomarkers for inborn errors of metabolism based on specialized chromatographic methods such as tandem mass spectrometry (FIA-MS/MS), gas chromatography-mass spectrometry (GC-MS) and ultra-high performance liquid chromatography (UPLC)
  • The Microarray Core Laboratory hosts two of the country’s microarray facilities and conducts research on ethnic population studies, pharmacogenetics and the genetic basis of commonly prevalent diseases among Filipinos using high-throughput screening and expression profiling of candidate genes. Completed research involved the identification of some of the variants associated with the following diseases among Filipinos: hypertension, coronary artery disease and myocardial infarction, dyslipidaemia, diabetes mellitus, systemic lupus erythematosus, asthma, leptospirosis and sepsis.
  • The Hemoglobinopathy Confirmatory Laboratory screens newborns for inherited disorders of the haemoglobin chain which may result in anaemia (since 2014). Complementing the functions of these units, IHG offers the following services:
    • Expanded Newborn Screening (ENBS)
    • Clinical Evaluation and Genetic Counselling
    • Diagnosis of Inborn Errors of Metabolism
    • Research – the Molecular Genetics Laboratory and the Microarray Core Laboratory does research studies on ethnic populations studies, pharmacogenetics, and susceptibility and prognostication of both infectious and non-communicable diseases.
    • Molecular-based Testing – makes use of relevant molecular biology tools to study specific diseases that will improve the diagnosis, treatment, management, and prevention of specific genetic disorders.
    • Chromosomal Studies – the Cytogenetics Laboratory provides routine chromosome analysis (blood, bone marrow) and fluorescence in situ hybridization (FISH) techniques for microdeletion syndromes.
    • Confirmatory testing for Hemoglobinopathies – the Hemoglobinopathy Laboratory conducts confirmatory testing for newborns with positive screening for the distinct types of thalassemia and other hemoglobinopathies.

Aside from these services offered, the IHG maintains its productivity through the publication of its completed and initiated research in indexed journals, such as the International Journal of Neonatal Screening, Human Genome Variation, BMJ Case Reports, the Philippine Journal of Science and Acta Medica Philippina.

Notable Individuals

Dr. Maria Corazon De Ungria: A prominent Filipino geneticist and forensics expert known for her work in human genetics, particularly in DNA forensics.

Dr. Eva Maria Cutiongco-de la Paz: A physician and researcher recognized for her contributions to genomics and rare genetic diseases.

The Future of Genomic Medicine in the Philippines

So far, the Philippines is well poised to become a significant player in the field of genomic medicine.

The country’s healthcare and academic institutions have been actively collaborating with international partners, attracting leading scientists and researchers to work on joint projects. This exchange of knowledge and expertise enhances the Philippines’ research capabilities and facilitates access to innovative technologies and methodologies. Furthermore, the Philippine government has recognised the importance of genomics and has been supporting initiatives to advance research in this field. The establishment of specialised genomics centres and funding opportunities has fuelled innovation and allowed for the training of a new generation of Filipino researchers.

While challenges remain, such as funding limitations and the need for further infrastructure development, the future potential of genomics in the Philippines is undeniable. As academic institutions, scientists and policymakers continue to collaborate and invest in this field, the country is poised to contribute significant discoveries and advancements to the genomics community.

In conclusion, the Philippines holds immense promise in the field of genomics. With its rich biodiversity, diverse population and growing research capabilities, the country is well-positioned to make significant contributions to genomics research, innovation and advancements. Collaborations with international partners and a growing interest in genomics within the medical community are paving the way for a brighter future in genomic medicine for the Philippines. As academia continues to invest in this field, the future of genomics in the Philippines looks bright and exciting.