Institute of Human Genetics

The Institute of Human Genetics (IHG) was created during the 1129th meeting of the UP Board of Regents on February 25, 1999 to promote health by understanding the genetic basis of common diseases in the Filipino population through diagnosis and early detection of potentially treatable genetic conditions.

The IHG is the largest provider of genetic services in the country, which consists of dedicated geneticists, physicians, nurses, dietitians, social workers, medical technicians, biochemists, chemists, biologists, and administrative support staff who are committed to bringing genomic medicine closer to Filipinos. 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, counseling, and family support. IHG is the first Institute at NIH that has gained its ISO 9001: 2008 in 2015, and later migrated to ISO 9001:2015 in 2018. It has just been awarded its renewed ISO 9001:2015 certificate that is valid until 2024. It continues to be of service to the people, and at the same time offers quality service with its Quality Management System in place:

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Institute Administration

Director

Maria Melanie Liberty B. Alcausin, MD, FPPS

Office Address

National Institutes of Health Building, UP Manila

  1. The Clinical Genetics and Research Unit, since 1990, provides free comprehensive clinical evaluation, appropriate therapeutic management, and genetic counseling 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 Pediatrics. 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:
    1. Center for Human Genetics Services (CHGS)
    2. Research and Special Projects
    3. Education and Training. CHGS has two satellite centers in Visayas and Mindanao. The Center for Human Genetic Services are facilities that cover island wide services (Luzon, Visayas Mindanao) and facilitates comprehensive clinical evaluation, appropriate management (diagnostic and therapeutic), and genetic counseling services to families or individuals with genetic conditions. (since 2020)
  2. 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)
  3. 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).
  4. 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 among others. (Since 2001)
  5. 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)
  6. 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, dyslipidemia, diabetes mellitus, systemic lupus erythematosus, asthma, leptospirosis and sepsis. The laboratory is also actively involved in the translation of the results of these researches into diagnostic or prognostication kits which may help aid clinicians in their care for patients with these diseases. (Since 2010).
  7. The Hemoglobinopathy Confirmatory Laboratory screens newborns for inherited disorders of the hemoglobin chain which may result in anemia. (Since 2014)

Complementing the functions of these units, IHG offers the following services:

  1. The Clinical Genetics and Research Unit, since 1990, provides free comprehensive clinical evaluation, appropriate therapeutic management, and genetic counseling 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 Pediatrics. 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:
    1. Center for Human Genetics Services (CHGS)
    2. Research and Special Projects
    3. Education and Training. CHGS has two satellite centers in Visayas and Mindanao. The Center for Human Genetic Services are facilities that cover island wide services (Luzon, Visayas Mindanao) and facilitates comprehensive clinical evaluation, appropriate management (diagnostic and therapeutic), and genetic counseling services to families or individuals with genetic conditions. (since 2020)
  2. 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)
  3. 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).
  4. 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 among others. (Since 2001)
  5. 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)
  6. 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, dyslipidemia, diabetes mellitus, systemic lupus erythematosus, asthma, leptospirosis and sepsis. The laboratory is also actively involved in the translation of the results of these researches into diagnostic or prognostication kits which may help aid clinicians in their care for patients with these diseases. (Since 2010).
  7. The Hemoglobinopathy Confirmatory Laboratory screens newborns for inherited disorders of the hemoglobin chain which may result in anemia. (Since 2014)

Existing Services and Projects

Clinical Genetics and Research Unit
  1. In-patient Services
  2. Outpatient/ Telegenetics Services
  3. Metabolic Clinic
  4. Dysmorphology Clinic
  5. Multi-disciplinary Clinic
  6. Enzyme Replacement Therapy
  7. Genetic Counseling Services
  8. Nutrition and Dietetics Services
  9. Social Services
  10. Researches
  11. Continuing Education Services
Cytogenetics Laboratory
  1. Chromosome analysis for investigation of constitutional karyotype (peripheral blood, fibroblasts, product of conception)
  2. Chromosome analysis for investigation of cancer cytogenetics (bone marrow, lymph node, solid tumour, aspirates, fluids)
  3. Fluorescence In-Situ Hybridisation (FISH) for:
    1. DiGeorge Syndrome/VCFS
    2. BCR-ABL Test
    3. Human Epidermal Receptor Factor-2 (HER-2) Test
    4. Prader-Willi/Angelman Syndrome
    5. Williams Syndrome
  4. Add-on services
    1. Expedite Fee
    2. High-Resolution Banding
    3. Fragile X Screening
    4. C-Banding
    5. AgNOR
Newborn Screening Center - NIH 

Provision of Expanded Newborn Screening Services for National Capital Region (NCR), Region IV-B (MIMAROPA), and Region V (BICOL).

  1. Molecular Genetics Laboratory
  2. Alpha Globin Multiplex PCR
  3. Alpha Globin StripAssay
  4. HbCS Targeted Sequencing
  5. Beta Globin StripAssay
  6. HbS Targeted Sequencing
  7. HbE Targeted Sequencing
  8. HbD Targeted Sequencing
  9. HbC Targeted Sequencing
  10. HPLC Analysis for Thalassemia Screening
  11. XDP Mutational Analysis
  12. DNA Extraction
  13. Outsourced Testing
Biochemical Genetics Laboratory
  1. Locally Available Tests
    1. Urine Metabolic Screening
    2. Urine Organic Acid Analysis
    3. Comprehensive Urine Metabolic Profile
    4. Plasma Amino Acid Analysis (Full Profile)
    5. Paired Plasma+CSF Amino Acid Analysis
    6. Plasma Acylcarnitine Analysis
  2. Overseas Tests
    1. Urine Pterins & DHPR
    2. VLCFA Analysis
Microarray Core Laboratory
  1. DNA Extraction
  2. PBMC Isolation
  3. RNA Extraction
  4. RNA Purification
  5. Microarray Custom Genotyping
  6. Microarray Whole-Genome Genotyping
  7. Microarray Whole-Genome Gene Expression
  8. Microarray Methylation Assay
  9. DNA Biobanking
Hemoglobinopathy Confirmatory Laboratory
  1. National Newborn Screening Confirmatory Center for Hemoglobinopathies

Current Researches

Clinical Genetics and Research Unit
  1. Acceptance, Knowledge and Experiences of Pediatric Hematologists in the Philippines on Newborn Screening for Hemoglobinopathies
  2. 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)
  3. Clinical, Biochemical, and Radiologic Profiles of Filipino Patients with 6-Pyruvoyl-Tetrahydrobiopterin Synthase (PTPS) Deficiency and Association with their Neurodevelopmental Outcomes
  4. Social Media Content Analysis of Public Glucose-6-Phosphate Deficiency (G6PD) Facebook Groups
  5. Acceptability and Sustainability of Dried Blood Spot Collection by Primary Caregivers of Filipino Patients with MSUD and PKU
  6. Patient Satisfaction on the Utility of Telegenetics Services in a Tertiary Hospital
Cytogenetics Laboratory
  1. A Review of Chromosomal Analysis Done at the NIH from 2008 to 2020
  2. Cytogenetic Study of Turner Syndrome and its variants among Filipinos
  3. Chromosomal Analysis and Genetic Counseling in Edwards Syndrome among Filipinos
  4. Chromosomal Analysis and Genetic Counseling in Patau Syndrome among Filipinos
  5. Chromosomal Analysis and its implications in Genetic Counseling among Filipino patients with Acute Lymphoblastic Leukemia (or Acute Myeloblastic Leukemia)
Newborn Screening Center - NIH 
  1. Cut-Off Refinements to Optimized Case Detection through Tandem Mass Spectrometry under the Expanded Newborn Screening Program of the Philippines
Molecular Genetics Laboratory
  1. Alpha Thalassemia Study
  2. Beta Thalassemia Study
  3. Alpha Carrier Study
  4. Cystic Fibrosis Study
  5. MCADD/VLCADD Study
  6. Congenital Adrenal Hyperplasia Study
Biochemical Genetics Laboratory
  1. Plasma AcylCarnitine Profile of Filipino Patients diagnosed with Fatty Acid Oxidation as determined using ESI Tandem LC-MS/MS: A Retrospective Study
  2. The impact of Covid-19 pandemic on the conduct of biochemical confirmatory testing of inborn errors of metabolism in the Philippines: A perspective
  3. Quality Management for the Biochemical Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography and Mass Spectrometry Analytical methods.
  4. The effect of storage time and freeze-thaw cycle on the stability of plasma samples for acylcarnitine analysis.
Microarray Core Laboratory
  1. CoV-Plasma Study: Evaluation of plasma therapy for retarding progression and preventing complications in COVID-19
  2. PCARI AMI: Joint Project for Disease Modeling and Developing Novel Therapeutics: Initial Focus on Acute Myocardial Infarction and Blood Calibration
Hemoglobinopathy Confirmatory Laboratory