Working Group: Topics




Topics Identified


Test to be Assessed*
Clinical Scenario
Target Population
Intended Use
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)
Individuals prior to treatment for ALL
Treatment with 6-mercaptopurine
Acute Myeloid Leukemia (AML)
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
telomere analysis
General population
Assessment of biological age
Alzheimer's Disease (AD)
1) Dementia patients; 2) Individuals with a family history of dementia; and 3) General population
1) Diagnosis; 2) and 3) Predictive testing/ risk assessment
Androgenetic  Alopecia
variations of the androgen receptor (AR) gene
General adult population
Likelihood of developing androgenetic alopecia
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
Individuals treated for asthma
Treatment with albuterol
Atrial Fibrillation and Stroke
Chromosome 4q25
General Population
Risk assessment
Bipolar Disorder
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
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
Individuals diagnosed with BrCa and their family members
Management of individuals and early detection/prevention for family members
Breast Cancer
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
genome-wide SNP array for copy number and loss of heterozygosity
Persons with cancer
p53 gene mutations
Individuals diagnosed with cancer
Predictive for treatment
PIK3CA mutations
Persons with cancer 
1) Companion diagnostics alongside PIK3CA inhibitor drugs, and 2) possible aid in cancer screening and early detection
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
Individuals with family history of CVD
Prevention and management
Cardiovascular Disease
General population
Predictive testing - Risk determination
Cardiovascular Disease (CVD)
Individuals treated for CVD
Treatment with beta-blockers and proton pump inhibitor drugs
Carrier screening for 448 autosomal and X-linked recessive diseases 
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
Individuals with clinical suspicion of Celiac Disease
Diagnosis and management
Chronic Myelogenous Leukemia (CML)
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 
Asymptomatic people in their 20's and 30's
Identify people at increased risk of developing colorectal cancer
Colorectal Cancer
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 
Individuals diagnosed with colon cancer
Predictive for treatments
Colorectal Cancer
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)
Individuals with clinical suspicion or family history of CF
Diagnosis and carrier testing
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
1) Individuals with clinical suspicion or family history of diabetes; 2) General population
1) Diagnosis; and 2)  Predictive testing/risk assessment
Diabetes, Type II
General population
Predictive testing/risk assessment
Menopause, Early 
Fragile X or FMR1
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) 
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)
Individuals with clinical suspicion of Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Hereditary Hemochromatosis (HHC)
1) Individuals with clinical suspicion of HHC; 2)  General population
1) Diagnosis; 2) Predictive testing/risk assessment
multi-SNP panel
General Population
Risk prediction of hypertension
Inflammatory Bowel Disease
Individuals diagnosed with Inflammatory Bowel Disease
Treatment with Azothiopurine
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 
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)
Encourage smoking cessation
Lung Cancer
Individuals with clinical suspicion of lung cancer
Predictive testing/risk assessment
Lung Cancer, Non-Small Cell (NSC)
Individuals prior to treatment for NSC lung cancer
Treatment with tyrosine kinase inhibitor (TKI) drugs (gefitinib, erlotinib)
Lung, breast, colorectal and other cancers 
Patients suffering from lung, breast, colorectal and other cancers 
Predictive for treatments
Malignant Hyperthermia
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
5 proteins expressed in melanoma
Melanoma patients 
Recurrence risk in melanoma patients
Patients diagnosed with melanoma 
Predictive for treatment
Melanoma / Pancreatic Cancer
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
Individuals with clinical suspicion of myeloproliferative disorders
Confirm diagnosis
Myocardial Infarction
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
General adult population
Risk prediction for osteoporosis
Pain Management
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
Individuals with clinical suspicion or family history of Parkinson's disease
Diagnosis and treatment of individuals and family members
Periodontal disease
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
General adult male population
Population Screening
Prostate Cancer
General adult male population
Population screening
Prostate Cancer
PITX2 Gene Methylation
Individuals with previous history of Prostate Cancer
Reoccurrence risk and prognosis
Psoriatic Arthritis 
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)
Individuals with clinical suspicion or family history of RP
Diagnosis and carrier testing
Solid Tumors 
Patients with solid tumors 
Diagnosing, selecting therapy, and monitoring therapeutic efficacy in solid tumors
Stroke & Fabry Disease 
Individuals with a family history of stroke, cardiac or kidney disease
To assess genetic predisposition of stroke, cardiac or kidney disease
Suicidal Ideation
Individuals diagnosed with depression
Treatment with fluoxetine
Individuals prior to treatment for thrombophilia
Treatment with warfarin
Type III Hyperlipoproteinemia
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 
General adult population
Identify mutations on the FHL1 gene in an effort to diagnose X-linked myopathy with postural muscle atrophy

*variants or mutations in the identified gene or genes


Page last updated: October 4, 2010
Page last reviewed: December 23, 2008
Content Source: EGAPP Team