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Working Group: Topics Identified

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Disorder/Effect
Test to be Assessed*
Clinical Scenario
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