Institute of Human Genetics

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, and

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. Expanded Newborn Screening (ENBS) – screens for additional treatable disorders (hemoglobinopathies; disorders of amino acid and organic acid metabolism, fatty acid oxidation, carbohydrate metabolism, biotin metabolism; and cystic fibrosis) thereby facilitating early diagnosis and immediate proper treatment of affected newborns.
2. Clinical Evaluation and Genetic Counseling – provides comprehensive clinical genetic and metabolic evaluation, dysmorphologic examination, and pre- and post-genetic counseling to patients and families at risk of an inheritable disorder.
3. Diagnosis of Inborn Errors of Metabolism - the Biochemical Genetics Laboratory renders diagnostic services for inborn errors of metabolism. It offers locally available assays such as plasma acylcarnitine, plasma amino acid and urinary organic acid analyses, urine metabolic screening and also, sends out tests overseas such as urine pterins and dihydropteridine reductase deficiency (DHPR) and very long-chain fatty acids (VLCFAs) tests.
4. 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.
5. 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. 
6. Chromosomal Studies - the Cytogenetics Laboratory provides routine chromosome analysis (blood, bone marrow) and fluorescence in situ hybridization (FISH) techniques for microdeletion syndromes.
7. Confirmatory testing for Hemoglobinopathies - the Hemoglobinopathy Laboratory conducts confirmatory testing for newborns with positive screening for the different types of thalassemia and other hemoglobinopathies. 

Aside from these services offered, the IHG maintains its productivity through the publication of its completed and initiated researches 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.

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:
     • Expedite Fee
     • High-Resolution Banding
     • Fragile X Screening
     • C-Banding
     • 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. OverseasTests
     • Urine Pterins & DHPR
     • 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

Institute/Center administration:

Director: Maria Melanie Liberty B. Alcausin, MD, FPPS

Office Address: National Institutes of Health Building, University of the Philippines UP Manila