table 1: selected Personalized Medicine drugs, treatments, and diagnostics as of March 2009* BIOMARKER/TEST
Herceptin® (trastuzumab)
her-2/neu receptor Breast cancer: “…for the treatment of patients with metastatic breast cancer whose tumors over-
Tykerb® (lapatinib)
express the her2 protein and who have received one or more chemotherapy regimens for their metastatic disease.” Pharmaceutical and surgical BRCA 1,2
Breast cancer: Guides surveillance and preventive treatment based on susceptibility risk for breast
prevention options and

aviara Breast cancer Breast cancer: calculates a combined risk analysis for recurrence after tamoxifen treatment for
indexsM (HOXB13,
er-positive, node-negative breast cancer.
Breast cancer: Prognostic immunohistochemistry (ihc) test used for postmenopausal, node
negative, estrogen receptor expressing breast cancer patients who will receive hormonal therapy
and are considering adjuvant chemotherapy.
Breast cancer: assesses risk of distant metastasis in a 70 gene expression profile.
Coumadin® (warfarin)
Cardiovascular disease: “an increased bleeding risk for patients carrying either the CYP2C9*2 or
CYP2C9*3 alleles.”
Coumadin® (warfarin)
Cardiovascular disease: “certain single nucleotide polymorphisms in the VKORC1 gene (espe-
cially the -1639G>a allele) have been associated with lower dose requirements for warfarin.”
Coumadin® (warfarin)
Cardiovascular disease: determines CYP2C9 and VKORC1 genotypes to predict likelihood of
adverse events with warfarin therapy.
Coumadin® (warfarin)
Cardiovascular disease: hereditary or acquired deficiencies of protein c or its cofactor, protein s,
has been associated with tissue necrosis following warfarin administration.
Pharmaceutical and lifestyle Familion® 5-gene
Cardiovascular disease: Guides prevention and drug selection for patients with inherited cardiac
prevention options
channelopathies such as long Qt syndrome (lQts), which can lead to cardiac rhythm abnormalities.
Cardiovascular disease: Predicts risk of statin-induced neuro-myopathy, based on a patient’s
combinatorial genotype for 50 genes.
Cardiovascular disease: “doses should be individualized according to the recommended goal of
therapy. homozygous Familial hypercholestremia (10-80mg/day)and heterozygous (10-20mg/
Camptosar® (irinotecan)
Colon cancer: “variations in the UGT1A1 gene can influence a patient’s ability to break down
irinotecan, which can lead to increased blood levels of the drug and a higher risk of side effects.”
Erbitux® (cetuximab)
Colon cancer: “Patients enrolled in the clinical studies were required to have…evidence of posi-
tive EGFR expression using the dakocytomation EGFR pharmdx™ test kit.” EGFR positive Vectibix® (panitumab)
individuals are more likely to respond to the drug than those with reduced EGFR expression.
Erbitux® (cetuximab)
Colon cancer: certain KRAS mutations lead to unresponsiveness to the drug.
Vectibix® (panitumab)
Erbitux® (cetuximab) and

Colon cancer: Provides information of the expression of key molecular targets—KRAS, TS, and
Vectibix® (panitumab)
Camptosar® (irinotecan)
Tagretol (carbamazepine)

Epilepsy and bipolar disorder: serious dermatologic reactions are associated with the HLA-
allele in patients treated with carbamazepine. “Prior to initiating tegretol therapy, testing
for HLA-B*1502 should be performed in patients with ancestry in populations in which HLA-
may be present.”
Immunosuppressive drugs
Heart transplantation: Monitors patient’s immune response to heart transplant to guide immu-
Ziagen® (abacavir)
HIV: “Patients who carry the HLA-B*5701 allele are at high risk for experiencing a hypersensitiv-
ity reaction to abacavir. Prior to initiating therapy with abacavir, screening for the HLA-B*5701
allele is recommended.”
HIV: “selzentry, in combination with other antiretroviral agents, is indicated for treatment experi-
enced adult patients infected with only ccr5-tropic hiv-1 detectable.”
18 The Case for Personalized Medicine
Personalized Medicine Coalition. The Case for Personalized Medicine. May 2009.
Inflammatory bowel disease: identifies subset of patients who will benefit from budesonide.
Leukemia: “Gleevec® (imatinib mesylate) is indicated for the treatment of newly diagnosed adult
and pediatric patients with Philadelphia chromosome positive [indicated by presence of BCR-
] chronic myeloid leukemia (cMl) in chronic phase.”
Leukemia: “dasatinib is indicated for the treatment of adults with Philadelphia chromosome-
positive acute lymphoblastic leukemia (Ph+ all) with resistance or intolerance to prior therapy” Leukemia: “Busulfan is clearly less effective in patients with chronic myelogenous leukemia who
lack the Philadelphia (Ph1) chromosome.” Leukemia: Guides adjustment of dose in treatment of acute lymphoblastic leukemia: “Patients
with inherited little or no thiopurine s-methyltransferase (tPMt) activity are at increased risk for severe Purinethol toxicity from conventional doses…” Lung cancer: the test determines patients most likely to respond.
Multiple cancers: “rarely, unexpected severe toxicity (e.g., stomatitis, diarrhea, neutropenia and
neurotoxicity) associated with 5-fluorouracil has been attributed to a deficiency of dihydropyrimi-
dine dehydrogenase (dPd) activity.”
Multiple cancers: Guides surveillance and preventive treatment based on susceptibility risk for
Multiple cancers: determines cancer classification for tumors of unknown primary origin.
aviara cancertyPe Multiple cancers: classifies 39 tumor types from tumors of unknown primary origin, using a
Multiple cancers: “rasburicase administered to patients with glucose- phosphate dehydrogenase
(G6Pd) deficiency can cause severe hemolysis. … it is recommended that patients at higher risk
for G6Pd deficiency … be screened prior to starting eliteK therapy.”
Multiple diseases: Fda classification 21 cFr 862.3360: “this device is used as an aid in deter-
mining treatment choice and individualizing treatment dose for therapeutics that are metabolized primarily by the specific enzyme about which the system provides genotypic information.” 2C19: celecoxib, codeine, diaz-
epam, esomeprazole, nelfinavir,
omeprazole, Pantoprazole, rabepra-
zole, voriconazole
2D6: acetaminophen, aripiprazole,
atomoxetine, carvedilol, cevimeline
hydrochloride, clozapine, Fluoxetine
hcl, Fluoxetine hcl and olan-
zapine, Metoprolol, Propranolol,
Propafenone, Protriptyline hcl,
risperidone, tamoxifen, terbinafine,
thioridazine, timolol maleate,
tiotropium bromide inhalation, tolt-
erodine, tramadol, venlafaxine
Multiple diseases: n-acetyltransferase slow and fast acetylators and toxicity- “slow acetylation
may lead to higher blood levels of the drug, and thus, an increase in toxic reactions.” Non-Hodgkin’s lymphoma: detects cd-20 variant (polymorphism in the igG Fc receptor gene
FcgRIIIa) to predict response to cancer drug rituximab.
Pain: “Patients who are known or suspected to be P450 2c9 poor metabolizers based on a previ-
ous history should be administered celecoxib with caution as they may have abnormally high
plasma levels due to reduced metabolic clearance.”
Psychiatric disorders: Predicts risk of psychotropic-induced metabolic syndrome, based on a
patient’s combinatorial genotype for 50 genes.
Stomach cancer: “Gleevec® is also indicated for the treatment of patients with Kit (CD117) posi-
tive unresectable and/or metastatic malignant gastrointestinal stromal tumors (Gist).”
*This list is not intended to be comprehensive but reflects commonly used or available products as of March 2009. Some products, for which the FDA recommends or requires pharmacogenomic testing or which have pharmacogenomic information in their label, are listed at the FDA’s Web site ( Other listed products that are novel, and/or that address large populations, have been identified via websites and public announcements.
Indications in quotes are taken from the therapeutic product label.
BCR-ABL = breakpoint cluster region – Abelson BRCA 1,2 = breast cancer susceptibility gene 1 or 2 HER2 = human epidermal growth factor receptor 2 UGT1A1 = UDP-glucuronosyltransferase 1A1 The Case for Personalized Medicine 19


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