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
|
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