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Clinical Scenario |
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Acne |
G6PD |
Individuals prior to treatment for acne |
Treatment with dapsone |
Acute Cellular Rejection (ACR) |
Gene Expression |
Heart Transplant Patients |
Risk Assessment for low/moderate ACR |
Acute Lymphoblastic Leukemia (ALL) |
TPMT |
Individuals prior to treatment for ALL |
Treatment with 6-mercaptopurine |
Acute Myeloid Leukemia (AML) |
FLT3 |
Individuals prior to treatment for AML |
Treatment with standard chemotherapeutic agents or tyrosine kinase inhibitor drugs |
Adenocarcinoma or Mesothelioma |
microRNA Detection |
Individuals with symptoms of Adenocarcinoma or Mesothelioma |
Diagnosis of Adenocarcinoma or Mesothelioma |
Adolescent Idiopathic Scoliosis (AIS) |
Multigene Panel |
Individuals diagnosed with AIS |
Prognosis and management |
Ageing |
telomere analysis |
General population |
Assessment of biological age |
Alzheimer's Disease (AD) |
ApoE |
1) Dementia patients; 2) Individuals with a family history of dementia; and 3) General population |
1) Diagnosis; 2) and 3) Predictive testing/ risk assessment |
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variations of the androgen receptor (AR) gene |
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Likelihood of developing androgenetic alopecia |
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Angina |
CYP2D6 |
Individuals diagnosed with angina |
Treatment with Perhexiline |
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) |
Multigene Panel |
Individuals with clinical suspicion and family members |
Diagnosis, management and risk |
Asthma |
ADRB2 |
Individuals treated for asthma |
Treatment with albuterol |
Atrial Fibrillation and Stroke |
Chromosome 4q25 |
General Population |
Risk assessment |
Bipolar Disorder |
GRK3, CACNG2, NTRK2, SP4, HTTLPR, PDE11A, GNB3 |
Individuals with clinical suspicion of Bipolar Disorder |
1) Diagnosis and 2) Treatment with antidepressants |
Bladder Cancer |
aneuploidy for chromosomes 3, 7, 17, and loss of the 9p21 locus |
Individuals with hematuria suspected of having bladder cancer |
1) Diagnosis of bladder cancer and 2) subsequent monitoring for tumor recurrence in patients previously diagnosed with bladder cancer |
Bladder Cancer |
MMP-9, MMP-2, ADAM12 and FGFR3 |
General Population |
To identify a cohort of patients who do not have bladder cancer; but have symptoms |
Bladder Cancer |
gene expression |
Individuals at high risk of developing bladder cancer |
Diagnosis of bladder cancer |
Breast Cancer |
CYP2D6 polymorphisms |
Women with breast cancer |
Treatment with Tamoxifen therapy |
Breast Cancer |
PI3K oncogene |
Patients suffering from breast cancer |
Predictive for treatments |
Breast Cancer |
tumor cells that show epithelial-mesenchymal transition (EMT) or stem cell-like metabolism |
Women with breast cancer |
1) Early determination of therapy failure and 2) the potential risk of resistance to a given therapeutic interve |
Breast Cancer |
HER-2/neu |
Individuals prior to treatment for BrCa |
Treatment with trastuzumab and progression/outcome prediction |
Breast Cancer |
BLN Assay |
Individuals diagnosed with breast cancer during surgery |
Diagnosis and management |
Breast Cancer |
BRCA1/2 |
Individuals diagnosed with BrCa and their family members |
Management of individuals and early detection/prevention for family members |
Breast Cancer |
CYP2D6 |
Individuals prior to treatment for BrCa |
Treatment with tamoxifen |
Breast Cancer |
SNP Markers |
General Population |
Predictive testing - risk assessment |
Breast Cancer (BrCa) |
Multigene panel |
General population of women |
Predictive testing/risk assessment |
Cancer |
genome-wide SNP array for copy number and loss of heterozygosity |
Persons with cancer |
Prognosis |
Cancer |
p53 gene mutations |
Individuals diagnosed with cancer |
Predictive for treatment |
Cancer |
PIK3CA mutations |
Persons with cancer |
1) Companion diagnostics alongside PIK3CA inhibitor drugs, and 2) possible aid in cancer screening and early detection |
Cancer |
DPYP, TYMS |
Individuals prior to treatment for various cancers |
Treatment with 5-fluorouracil (5-FU) |
Cancer of unknown primary origin |
Multigene Expression Panel |
Individuals with metastatic cancer |
Diagnosis and Management |
Cancer of unknown primary origin |
microRNA Detection |
Individuals with metastatic cancer |
Diagnosis and Management |
Cardiac Channelopathies |
Multigene panel |
Clinical suspicion or family history of cardiac channelopathies |
Diagnosis and management |
Cardiovascular Disease |
MTHFR |
Individuals with family history of CVD |
Prevention and management |
Cardiovascular Disease |
ApoE |
General population |
Predictive testing - Risk determination |
Cardiovascular Disease (CVD) |
CYP450 |
Individuals treated for CVD |
Treatment with beta-blockers and proton pump inhibitor drugs |
Carrier screening for 448 autosomal and X-linked recessive diseases |
Sequencing |
Prospective parents |
To inform prospective parents what severe genetic diseases they are carriers for, diseases that together they might pass on to their children |
Celiac Disease |
HLA DQ2 & DQ8 |
Individuals with clinical suspicion of Celiac Disease |
Diagnosis and management |
Chronic Myelogenous Leukemia (CML) |
BCR/ABL |
Individuals with a diagnosis, clinical suspicion or family history of CML |
Diagnosis and treatment monitoring |
Colon Cancer |
Gene expression panel |
General Population |
Screening for and diagnosis of colon cancer |
Colon Cancer |
multiple gene profile |
Patients with stage II colon cancer |
Assessment of risk of recurrence following surgery |
Colorectal Cancer |
IGF2 |
Asymptomatic people in their 20's and 30's |
Identify people at increased risk of developing colorectal cancer |
Colorectal Cancer |
microRNA |
General Population |
Identifying persons with colorectal cancer |
Colorectal Cancer |
gene expression (ERCC1, TS, EGFR, VEGFR2) and mutation (KRAS, BRAF) |
Individuals diagnosed with colon cancer |
Predictive for treatments |
Colorectal Cancer |
PI3K |
Individuals diagnosed with colon cancer |
Predictive for treatments |
Colorectal Cancer |
KRAS |
Colorectal Cancer Patients |
Treatment with anti-EGFR therapy |
Colorectal Cancer (CRC) |
fecal DNA |
General population |
Population screening |
Colorectal Cancer (CRC) |
Septin 9 DNA methylation |
General Population |
Diagnosis of early colorectal cancer |
Colorectal cancer, metastatic disease |
guanylyl cyclase c (GCC) |
Adults having surgery for colorectal cancer |
Diagnosis for spread of cancer to lymph nodes |
Cytogenetic abnormalities |
135,000 oligonucleotide chip,* confirmed by FISH |
Affected families |
Diagnose any of over 200 recognized cytogenetic syndromes |
Cystic Fibrosis (CF) |
CFTR |
Individuals with clinical suspicion or family history of CF |
Diagnosis and carrier testing |
Deafness |
GJB1, GJB2, GJB3, GJB6 |
Individuals who failed initial newborn screening hearing tests |
Newborn screening follow-up |
Developmental Delay |
cGH Array |
Children who exhibit possible developmental delay |
Diagnosis and management |
Diabetes, Type II |
pPARG2 |
1) Individuals with clinical suspicion or family history of diabetes; 2) General population |
1) Diagnosis; and 2) Predictive testing/risk assessment |
Diabetes, Type II |
TCF7L2 |
General population |
Predictive testing/risk assessment |
Menopause, Early |
Fragile X or FMR1 |
Women |
Prediction of ovarian ageing |
Exfoliation Glaucoma |
SNP Detection (LOXL gene) |
General Population |
Risk prediction |
Fetal Chromosome Abnormalities |
sequencing of fetal DNA in material blood |
Pregnant Individuals |
Diagnosis and residual disease prediction |
Gastric Cancer |
expression of ERCC1, TS, and HER2 |
Persons with gastric cancer |
Treatment with 5-fluorouracil-folinic acid-oxaliplatin (FOLFOX) or alternatives |
Genital Herpes |
Human MBL2 gene |
Patients recently diagnosed with genital herpes |
To identify those individuals who will have frequent outbreaks (more than 6 times per year) of genital herpes and may be a good candidate for long-term preventive therapy |
Glioblastoma multiforme (GBM) |
EGFRvIII |
Adults with newly diagnosed GBM |
Predict response to treatment with the investigational drug PF-04948568 (CDX-110) which targets the tumor-specific Epidermal Growth Factor Receptor variant III (EGFRvIII) |
Head and Neck Cancer |
XPF, pMK2, PAR, pH2AX, FANCD2, ATM, BRCA1, RAD51, ERCC1(clone8F1) |
Persons diagnosed with head and neck cancer |
Predictive for treatment |
Hearing Loss |
multigene panel |
Children who exhibit hearing loss |
Diagnosis and management |
Hereditary hemorrhagic telangiectasia (HHT) |
ALK1 |
Individuals with clinical suspicion of Hereditary hemorrhagic telangiectasia type 2 (HHT2) |
Diagnosis |
Hereditary Hemochromatosis (HHC) |
HFE |
1) Individuals with clinical suspicion of HHC; 2) General population |
1) Diagnosis; 2) Predictive testing/risk assessment |
Hypertension |
multi-SNP panel |
General Population |
Risk prediction of hypertension |
Inflammatory Bowel Disease |
TPMT |
Individuals diagnosed with Inflammatory Bowel Disease |
Treatment with Azothiopurine |
Jaundice |
Multigene Panel |
Children with symptoms of Jaundice / Diagnosis of cause of jaundice |
Diagnosis of cause of jaundice |
Large B-cell Lymphoma |
gene signature |
Patients with diffuse large B-cell lymphoma |
Predict sensitivity to the partial CD40 agonist, dacetuzumab (SGN-40) |
Lung Cancer |
gene expression |
Persons with suspected lung cancer |
Diagnosis of lung cancer |
Lung Cancer |
PI3K |
Patients suffering from lung cancer |
Predictive for treatments |
Lung Cancer |
SHOX2 methylation |
Patients with suspected lung cancer |
1) To complement the findings from clinic and pathology and 2) provide valuable information regarding the presence of lung cancer |
Lung Cancer |
20 SNPs combined with three non-genetic factors (age, family history of lung cancer, and past history of COPD) |
Smokers |
Encourage smoking cessation |
Lung Cancer |
GSTM1 |
Individuals with clinical suspicion of lung cancer |
Predictive testing/risk assessment |
Lung Cancer, Non-Small Cell (NSC) |
EGFR, KRAS |
Individuals prior to treatment for NSC lung cancer |
Treatment with tyrosine kinase inhibitor (TKI) drugs (gefitinib, erlotinib) |
Lung, breast, colorectal and other cancers |
EGFR |
Patients suffering from lung, breast, colorectal and other cancers |
Predictive for treatments |
Malignant Hyperthermia |
RYR1 |
High risk individuals prior to surgery |
Management in surgery |
Mature-Onset Diabetes of the Young (MODY) |
Multigene panel |
Individuals with suspected or diagnosed MODY |
Diagnosis and management |
Melanoma |
5 proteins expressed in melanoma |
Melanoma patients |
Recurrence risk in melanoma patients |
Melanoma |
MAGE-A3 |
Patients diagnosed with melanoma |
Predictive for treatment |
Melanoma / Pancreatic Cancer |
p16 |
General population |
Predictive testing/risk assessment |
Multiple disorders |
Multigene Panels |
General Population |
Risk Prediction |
Myelodysplastic Syndromes |
Hemescan MDS |
Individuals with refractory anemia and clinical suspicion of leukemia |
Risk Assessment and management |
Myeloproliferative disorders |
JAK2 |
Individuals with clinical suspicion of myeloproliferative disorders |
Confirm diagnosis |
Myocardial Infarction |
CDKN2A/2B |
General Population |
Risk assessment |
Myocardial infarction, acute coronary syndromes |
cardiac troponin I |
Adults with chest pain |
Early diagnosis of myocardial infarction and risk stratification for acute coronary syndromes |
Non-small Cell Lung Cancer (NSCLC) |
MAGE A3 antigen |
Patients with NSCLC |
Predictive for treatments |
Non-small Cell Lung Cancer (NSCLC) |
ALK gene rearrangements |
Individuals diagnosed with non small-cell lung cancer |
To determine the appropriate dose of chemotherapeutic agent PF-02341066 |
Non-small Cell Lung Cancer (NSCLC) |
Gene rearrangements |
Patients with non-small cell lung cancer |
To determine those who are the best candidates for oral therapy for NSCLC tumors |
Non-Small Cell Lung Cancer (NSCLC) |
microRNA Detection |
Individuals with NSCLC |
Diagnosis of subtype |
Osteoporosis |
undetermined |
General adult population |
Risk prediction for osteoporosis |
Pain Management |
CYP450 |
Individuals treated for chronic or acute pain |
Treatment with codeine and derivative drugs |
Pancreatitis or Pancreatic Cancer |
microRNA Detection |
Individuals symptoms of pancreatitis or pancreatic cancer |
Diagnosis of pancreatitis or pancreatic cancer |
Parkinson disease |
LRRK2 |
Individuals with clinical suspicion or family history of Parkinson's disease |
Diagnosis and treatment of individuals and family members |
Periodontal disease |
IL-1 |
General population |
Population screening |
Pleural Mesothelioma |
Gene ratio test for four genes |
1) persons suspected of having mesothelioma 2) Mesothelioma patients |
1) Diagnosis and 2) treatment for pleural mesothelioma patients |
Prostate Cancer |
TMPRSS2:ERG, T2:ERG ratios |
Persons suspected of having prostate cancer |
Diagnosis of prostate cancer |
Prostate Cancer |
PCA3 mRNA |
General adult male population |
Population Screening |
Prostate Cancer |
uPM3 |
General adult male population |
Population screening |
Prostate Cancer |
PITX2 Gene Methylation |
Individuals with previous history of Prostate Cancer |
Reoccurrence risk and prognosis |
Psoriatic Arthritis |
MICA-A9 |
Patients with psoriasis |
Identify patients with psoriasis who are at high risk for developing psoriatic arthritis for early intervention to prevent joint damage |
Radiation Exposure |
25 gene expression test |
People suspected of having been exposed to radiation from a 'dirty bomb' or nuclear attack |
Screening large numbers of people to determine radiation exposure level |
Retinitis pigmentosa (RP) |
ARRP1 |
Individuals with clinical suspicion or family history of RP |
Diagnosis and carrier testing |
Solid Tumors |
MUC1 |
Patients with solid tumors |
Diagnosing, selecting therapy, and monitoring therapeutic efficacy in solid tumors |
Stroke & Fabry Disease |
undetermined |
Individuals with a family history of stroke, cardiac or kidney disease |
To assess genetic predisposition of stroke, cardiac or kidney disease |
Suicidal Ideation |
GRIA3, GRIK2 |
Individuals diagnosed with depression |
Treatment with fluoxetine |
Thrombophilia |
VKORC1, CYP2C9 |
Individuals prior to treatment for thrombophilia |
Treatment with warfarin |
Type III Hyperlipoproteinemia |
ApoE |
Individuals with family history or clinical symptoms of CVD |
Diagnosis of Type III hyperlipoproteinemia |
Weight Management |
Five genetic variations related to fat absorption and metabolism |
General adult population |
To tailor nutritional intake and fitness routine for improved, sustainable results |
X-linked myopathy with postural muscle atrophy |
FHL1 |
General adult population |
Identify mutations on the FHL1 gene in an effort to diagnose X-linked myopathy with postural muscle atrophy |
