Course

Unit 1

Unit 1:

Foundations of Genetic Testing, Overview of human genetics and types of genetic variation, Indications for genetic testing (diagnostic, predictive, carrier, prenatal, pharmacogenetic), Principles of genetic inheritance and disease mechanisms, Ethical, legal, and social implications (ELSI) in genetic testing.

Unit 2

Unit 2:

Cytogenetics and Molecular Cytogenetics, Conventional karyotyping: applications and limitations, Fluorescence in situ hybridization (FISH), Comparative genomic hybridization (CGH), Detection of chromosomal abnormalities in inherited and acquired conditions.

Unit 3

Unit 3:

PCR-Based Techniques and Fragment Analysis, PCR, RT-PCR, and quantitative PCR, Allele-specific PCR, multiplex PCR, and applications in mutation detection, STR and VNTR analysis, Use of PCR in diagnosing monogenic diseases.

Unit 4

Unit 4:

Microarrays and Copy Number Variation Analysis, SNP arrays and CGH arrays, Detecting copy number variants (CNVs), Interpretation and clinical relevance of CNVs, Limitations and complementary methods.

Unit 5

Unit 5:

Next-Generation Sequencing (NGS) in Diagnostics, Principles of NGS: whole genome, whole exome, and targeted panels, NGS workflow: library prep, sequencing, data analysis, Variant detection, annotation, and interpretation, Coverage, depth, and limitations in clinical settings.

Unit 6

Unit 6:

Variant Classification and Genetic Counselling, ACMG/AMP guidelines for variant interpretation, Classification: pathogenic, likely pathogenic, VUS, likely benign, benign, Implications for patient care and family screening, Principles of genetic counselling: communication, risk assessment, and psychosocial aspects.

(45 classes)

Preamble

Genetic Testing offers an in-depth look at methods and clinical applications of genetic and genomic diagnostics. The course includes cytogenetic techniques, PCR, microarrays, and next-generation sequencing. Students will understand test design, variant interpretation, ACMG classification, and genetic counselling implications in inherited and acquired disorders.

Course outcomes

CO1: Understand genetic variations and ethics in testing.

CO2: Use cytogenetic tools to detect chromosomal abnormalities.

CO3: Apply PCR-based methods for genetic diagnostics.

CO4: Analyze CNVs using microarray platforms.

CO5: Interpret NGS data for clinical applications.

CO6: Classify variants and understand genetic counselling basics.

Program outcome

PO1: Bioscience Knowledge

PO2: Problem Analysis

PO3: Design/Development of Solutions

PO4: Conduct Investigations of complex problems

PO5: Modern tools usage

PO6: Bioscientist and Society

PO7: Environment and Sustainability

PO8: Ethics

PO9: Individual & Team work

PO10: Communication

PO11: Project management & Finance

PO12: Lifelong learning

0 – No affinity; 1 – low affinity; 2 – Medium affinity; 3 – High affinity

Program-specific outcome

PSO 1 – Emerging technologies in clinical diagnostics

PSO 2 – Biomolecules in Medicine

PSO 3 – Molecular dysregulation in diseases

PSO 4 – Molecular technology in diagnosis and therapy

PSO 5 – Applying lab discoveries to clinical practice

PSO 6 – Microorganisms in Medicine

PSO 7 – Statistical methods to interpret and validate diagnostic results

PSO 8 – Integrate molecular diagnostics into personalized medicine

PSO 9 – Compounds as biomarkers and its specificity

PSO 10 – Bioinformatics and biological data use

0 – No affinity; 1 – low affinity; 2 – Medium affinity; 3 – High affinity

Textbook:

Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia: Elsevier; 2015.

Reference Book:

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the ACMG and AMP. Genet Med. 2015;17(5):405–424.