Working Group: Topics Identified
| 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