NEET PG High-Yield: Advances in Human Genetics
Rapid technological progress is transforming clinical genetics from purely diagnostic to highly personalized, targeted therapeutic approaches.
Key Technologies
| Technology | Clinical Application |
|---|---|
| NGS (Next-Gen Sequencing) | Rapid sequencing of entire exomes/genomes for rare disease diagnosis. |
| CRISPR-Cas9 | Gene editing to potentially correct pathogenic mutations. |
| NIPT (Non-Invasive Prenatal Testing) | Screening fetal DNA from maternal blood for chromosomal aneuploidies. |
Emerging Therapeutic & Diagnostic Trends
- Pharmacogenomics: Tailoring drug therapy based on an individual’s genetic profile to maximize efficacy and minimize toxicity (e.g., Warfarin dosing).
- Gene Therapy: Replacement or supplementation of defective genes (e.g., for Spinal Muscular Atrophy and Leber Congenital Amaurosis).
- Liquid Biopsies: Detecting circulating tumor DNA (ctDNA) for early cancer screening and monitoring response to treatment.
High-Yield NEET PG Pearls:
- NGS Speed: Has dramatically reduced the “diagnostic odyssey” for patients with undiagnosed genetic disorders.
- Ethical Considerations: Advances raise critical issues regarding genetic privacy, “designer babies,” and equitable access to expensive gene therapies.
- Genome-Wide Association Studies (GWAS): Used to identify genetic risk factors for complex polygenic diseases like Diabetes and Hypertension.