Genomics and the Future of Personalized Medicine

From Genes to Drugs

Personalized medicine is revolutionizing care by leveraging genomic data to tailor treatments. Whether it's cancer therapy or antidepressant selection, your DNA now plays a starring role in medical decisions.

"Whole genome sequencing costs have dropped from $100M in 2001 to under $200 today, enabling routine clinical use (NHGRI 2023)."

Clinical Applications

Oncology:
- PARP inhibitors for BRCA+ cancers improve 5-year survival by 42%
- FoundationOne CDx tests 324 cancer genes to guide therapy
Pharmacogenomics:
- CYP2C19 testing prevents clopidogrel resistance in 30% of PCI patients
- HLA-B*57:01 screening reduces abacavir hypersensitivity by 100%
Preventive Care:
- APOE4 detection enables early Alzheimer's interventions
- 23andMe identifies BRCA mutations with 99% concordance to clinical tests

Technical Advances

Sequencing:
- Oxford Nanopore provides real-time sequencing in <4 hours
- CRISPR-based diagnostics (SHERLOCK) detect SNPs at point-of-care
Analysis:
- AI interprets VUS (variants of unknown significance) with 89% accuracy
- Polygenic risk scores combine 1M+ SNPs for disease prediction

Implementation Challenges

Insurance coverage for genomic testing varies widely
Data privacy concerns with cloud-based analysis
Clinical interpretation bottlenecks (avg. 3 week wait for results)