Cancer Genomics

Genetics, and genomics, molecular genetic profiling may soon become an integral tool for clinicians to guide individualized management of many medical conditions. Personalized medicine , incorporating genetic and genomic data as well as clinical and environmental factors, to assess individual risks and tailor prevention and disease management strategies.

Advocates for personalized medicine cite its potential to yield significant health and economic benefits:

Improved medical decision making

Delivery of appropriate therapies

Optimized disease prevention strategies

Reduced incidence of treatment-related complications

Reduced healthcare costs

Broadly three types of genetic variation: (i) relatively rare, disease-causing mutations that are associated with Mendelian diseases; (ii) more common variants that are associated with an increased risk of complex diseases; (iii) and sequence variants that modulate drug response (pharmacogenetic variants).

Specific single gene tests — Most gene-specific tests are performed as part of a focused risk evaluation for heritable disease or for diagnostic considerations. Examples include BRCA1 and BRCA2 gene sequencing for carrier identification in at risk individuals with a strong family history of breast cancer and VKORC1 genotyping for warfarin.

Genotyping panels of selected susceptibility variants — These panels are usually bundled as direct-to-consumer (DTC) genetic tests and include single nucleotide polymorphisms (SNPs) that have been associated with common, non-Mendelian or complex traits such as type 2 diabetes, autoimmune disease, and metabolic traits.

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