Table 1.

Examples of genetic and genomic testing in personalized medicine

Pre-symptomatic risk assessment

BRCA1/2 testing for breast cancera

Lynch syndrome testing for hereditary colon cancerb

Long QT intervalc,d

Spinal Muscular Atrophye

Diagnosis

Beta thalassemiaf

Fusion genes and rearrangements including BCR-ABL, E2A-PBX1, TEL-AML1, and MLL in pediatric leukemiag

Gene expression profiles define subtypes of breast cancerh

Human Papilloma Virus detectioni

Hepatitis C detectionj

PCR detection of micro-organisms (bacteria, fungi)k

Prognosis

Fragile X syndrome (number of trinucleotide repeats predicts severity)l

Gene expression signatures and prognosis in breast cancerm

Gene expression analysis and lymphoma prognosisn

Treatment and pharmacogenomics

Therapies for targeted gene mutations in cancero

EGFR point mutations in lung cancer and glioblastoma and cetuximab, gefitinib, erlotinib, panitumumab, lapatinib treatment

KIT, PDGFR mutations in sarcoma, glioma, liver and renal cancer, melanoma and imatinib, nilotinib, sunitinib, sorafenib treatment

BRAF mutations in melanoma treated by RAF inhibitors

BCR-ABL translocation in chronic myelogenous leukemia treated by imatinib

KRAS wild-type status correlated with resistance to EGFR inhibition

PARP inhibitors in BRCA mutant breast, ovarian, prostate and pancreatic cancer

Herceptin (Trastuzumab) in HER2 + breast cancer

Pharmacogenomic applicationsp

CYP 2C19*2 variant (rs4244285) associated with diminished clopidogrel responseq

Rs2395029 testing for HLA-B*5701 allele, correlated with hypersensitivity to abacavir treatment for HIV+ patientsr

^aRobson and Offit (2007), ^b EGAPP (2009a), ^c Napolitano et al. (2005), ^d Lehnart et al. (2007), ^e Prior et al. (2008), ^f Galanello and Origa (2010), ^g Carroll et al. (2003), ^h Sorlie et al. (2001), ⁱ Nicol et al. (2010), ^j Pham et al. (2010), ^k Tsalik et al. (2010), ^l Sherman et al. (2005), ^m Kim and Paik (2010), ⁿ Rosenwald et al. (2002), ^o Macconaill and Garraway (2010), ^p U.S. Food and Drug Administration (2011), ^q Shuldiner et al. (2009), ^r Colombo et al. (2008)