Guided Notes

Precision Medicine & Genomic Informatics

Genomic data basics, pharmacogenomics in the EHR, genetic test results as structured data, clinical decision support for genomics, family history, privacy and equity.

Precision medicine

Slide 1 / 5

Precision medicine tailors prevention and treatment to individual differences in genes, environment and lifestyle. Examples: • Targeted cancer therapies based on tumor mutations. • Pharmacogenomics — choosing drugs/doses based on genes affecting metabolism. • Hereditary risk (e.g. BRCA1/2) guiding screening and prevention. • Large research programs (e.g. NIH's All of Us) building diverse genomic datasets.