Page 22 - Biennial Report 2018-20 Jun 2021

establishment of the etiology in a significant proportion of families that will have implications
for management, prognostication, and family planning.

PHARMACOGENOMIC ASSAY PANELS FOR DRUG RESPONSE AND ADVERSE
DRUG REACTION

In several complex diseases like neurological diseases (epilepsy, Parkinson’s disease and
Alzheimer’s disease), psychiatric diseases (schizophrenia and major depressive disorder) and
respiratory diseases like interstitial lung disease, inter-individual variability in treatment
response can provide valuable information in prescribing the most effective drug.
Pharmacogenomics is an area of genomics wherein, the relation between drug metabolism,
efficacy and genetic variation is tapped into, for supporting clinicians. In order to screen
pharmacogenomics markers specific to Indian population that can further be directed for
targeted treatment with effective therapeutic management, specific genetic variants, associated
with variable drug response, will be screened at IGIB by Ritushree Kukreti and group, enabling
optimization of treatment strategies, reduced healthcare costs with respect to adverse drug
reactions and poor response to pharmacotherapy. Hence, implementation of genotyping of
pharmacogenetic biomarkers associated with drug response in the clinical practice will help
physicians to give a more individualized and effective design for drug treatment for an individual.
Primarily, the focus is on highly curated epilepsy patients and control samples, in which 1500
samples have been collected in collaboration with the clinicians from the respective centers in
earlier research projects. These samples with their detailed clinical and demographic profiling
have been sub-typed into different disease and drug response phenotypes. Currently, the follow
up response of these patients are being managed and a detailed clinical profile of the patients
with the follow up are recorded for their clinical profiling, demographics and drug response
parameters. Population-specific genetic variants associated with variable drug response would
be screened using a commercially available bead chip array called Illumina Infinium Global
Screening Array (GSA). GSA contains a comprehensive range of multi-ethnic genome-wide
content, for precision medicine research. The genotype phenotype relations will be then
correlated among the different drug groups and the different drug response subgroups. Further,
in this study, few samples would be additionally recruited as a replication cohort to validate the
already identified markers. For this, ethical clearance has been received from AIIMS and Asthma
Bhawan, Jaipur. Genetic markers with significant statistical association will be then used to
develop the pharmacogenetic test for screening patient response. The identification of drug-
specific biomarkers, which can help in determining drug toxicity, therapeutic response, and
treatment management, is expected.

PHARMACOGENOMICS OF MAJOR DEPRESSIVE DISORDER

Depression is a common disease across the world with widely varying estimates of prevalence,
depending on the country, age, and gender. A recent estimate by the World Health Organization
reveals although India matches the global average in prevalence, due to its large population size,
it has the largest number of patients living with depression. India has a large burden of disease

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