Working Group: Topics Identified

Topics identified by test to be assessed, target population and intended use
Disorder/Effect Test to be Assessed* Target Population Intended Use
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
Androgenetic Alopecia variations of the androgen receptor (AR) gene General adult population Likelihood of developing androgenetic alopecia
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 cance
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

*variants or mutations in the identified gene or genes