Table 1.
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)