Cxbladder Triage (Pacific Edge, Ltd.)

Cxbladder Triage (Pacific Edge, Ltd.)

April 23, 2018 Genetic Test Evaluation

Bladder cancer is the sixth most common cancer in the United States and often presents as hematuria, pain during urination, or frequent urge to urinate. However, these symptoms may be present due to a number of noncancerous conditions. Diagnosis of bladder cancer and other urothelial cancers typically requires an invasive cystoscopy because standard imaging is nonspecific. Therefore, a noninvasive, urine-based test to rule out bladder cancer in conjunction with clinical criteria is of significant interest.  

Cxbladder Detect (Pacific Edge Ltd.)

April 23, 2018 Genetic Test Evaluation

Bladder cancer is the sixth most common cancer in the United States and often presents as hematuria, pain during urination, or frequent urge to urinate. However, these symptoms may be present due to a number of noncancerous conditions. Diagnosis of bladder cancer and other urothelial cancers typically requires an invasive cystoscopy because standard imaging is nonspecific. Therefore, a noninvasive, urine-based test to detect bladder cancer as an adjunct to standard diagnostic methods is of significant interest.  

Oncotype DX Colon Recurrence Score test (Genomic Health Inc.)

March 12, 2018 Genetic Test Evaluation

This report evaluates the analytical validity, clinical validity, and clinical utility of the Oncotype DX Colon Recurrence Score test, a gene expression assay intended to quantify the risk of disease recurrence in patients with anatomic stage II, mismatch repair proficient (MMR-P) or stage III A/B colon cancer.

Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Trisomy 21, 18, and 13 in High-Risk Women

February 16, 2018 Genetic Test Evaluation

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for fetal trisomy 21, 18, and 13 in high-risk women with singleton or multiple gestation pregnancies. Populations at high risk for aneuploidy include women with advanced maternal age; parental Robertsonian translocation involving chromosome 21 or 13; a previous pregnancy with a trisomy; ultrasound findings associated with an increased risk for trisomy 21, 18, or 13; and/or a positive alternate aneuploidy screening test.

Overa (ASPiRA Labs)

February 1, 2018 Genetic Test Evaluation

At present, the overall estimated 5-year survival rate for ovarian cancer is 46.5%. Early identification does impact prognosis; however, the majority of ovarian cancer patients are diagnosed with advanced-stage disease, where survival rates are low. Biomarker analysis for risk stratification assessments for ovarian cancer, specifically adnexal masses, aims to increase early diagnosis and subsequent benefit from early intervention.

FoundationOneHeme (Foundation Medicine Inc.)

January 18, 2018 Genetic Test Evaluation

Molecular diagnostic testing for hematologic malignancies and sarcomas currently involves the use of multiple assays, each designed to detect a specific type of genomic alteration. The detection of these alterations may help with determining prognosis or driving treatment. It has been suggested that a comprehensive test that simultaneously assesses for these different types of genomic alterations may enhance diagnostic capabilities and offer increased opportunities for targeted therapy. This report reviews 1 such test, the FoundationOneHeme test.

OVA1 (ASPiRA Labs)

December 19, 2017 Genetic Test Evaluation

At present, the overall estimated 5-year survival rate for ovarian cancer is 46.5%. Early identification does impact prognosis; however, the majority of ovarian cancer patients are diagnosed with advanced-stage disease, where survival rates are low. The relative 5-year survival rate for localized ovarian cancer is 92.5%, whereas for regional cancer with lymph node involvement the rate decreases to 73.0%. Metastatic ovarian cancer has a 5-year relative survival of only 28.9%, underscoring the importance of an early diagnosis. To this end, biomarker analysis to assess adnexal masses, specifically for ovarian cancer, aims to increase early diagnosis of disease. The OVA1 test...

Genetic Testing for Familial Hemiplegic Migraine (FHM)

December 12, 2017 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for familial hemiplegic migraine (FHM) in symptomatic individuals who meet clinical diagnostic criteria for FHM and for asymptomatic family members who have a relative with FHM and a known pathogenic variant.

AlloSure (CareDx)

December 7, 2017 Genetic Test Evaluation

The reference standard for diagnosis of renal allograft rejection is needle biopsy, but it is not typically used to monitor for rejection due to risk of complications, patient discomfort, and cost. Rejection results from injury to the allograft and cell death, which are correlated with elevated plasma levels of donor-derived cell-free DNA (dd-cfDNA). Current methods used to monitor for renal transplant rejection are indirect measures of renal function that are not specific to transplant rejection. Tests that measure dd-cfDNA may offer a noninvasive, more sensitive, and specific assessment of allograft rejection that is safer and can be performed at more...

Cologuard (Exact Sciences Corp.)

December 5, 2017 Genetic Test Evaluation

Fecal-based colorectal cancer (CRC) screening tests have been used to detect hemoglobin, a measure of fecal occult blood (FOB), in stool, which is a nonspecific sign of CRC. In general, fecal-based CRC screening is a tool to improve CRC detection without the inconvenience (i.e., bowel preparation and time commitment) of screening colonoscopy or other invasive methods. Fecal-based assessment can also include the analysis of DNA found in the stool, detecting alterations that may occur during CRC carcinogenesis from cells that are shed into the stool. Stool-based tests using DNA biomarkers plus FOB screening are presumed to detect more CRCs than...

GeneStrat (Biodesix Inc.)

December 5, 2017 Genetic Test Evaluation

Molecular profiling is used for patients with advanced non-small cell lung cancer (NSCLC) to characterize oncogenic drivers and mechanisms of resistance to help guide appropriate treatment selection. Testing is frequently performed at diagnosis and at disease progression, as the majority of patients will develop resistance to initial treatment within 1 year of initiation. Molecular profiling has usually been performed on tissue biopsy samples. However, these samples can be challenging to obtain, may be associated with adverse events, and may not completely represent the full tumor profile due to clonal heterogeneity. In addition, biopsies can be expensive and it can take...

Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Rare Autosomal Trisomies

November 28, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for rare autosomal trisomies in women with singleton or multiple gestation pregnancies. There has been a large uptake of cfDNA fetal screening for common trisomies in women at high risk for fetal aneuploidy, with the majority of fetal cfDNA studies published in high-risk populations. In addition, some professional societies and medical practices support cfDNA screening for common trisomies for all pregnant women, regardless of risk. As many laboratories are offering analysis for rare autosomal trisomies along with common aneuploidy cfDNA screening, it is important to evaluate published...

CYP2C19 Pharmacogenomic Genotyping to Direct Clopidogrel Therapy in Adult Patients Undergoing Percutaneous Coronary Intervention (PCI)

November 20, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for CYP2C19 pharmacogenomic genotyping to direct clopidogrel therapy in adult patients undergoing percutaneous coronary intervention (PCI).

CYP2C19 Pharmacogenomic Genotyping to Direct Clopidogrel Therapy for Secondary Prevention in Patients with a History of Stroke and/or Transient Ischemic Attack (TIA)

November 14, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for CYP2C19 pharmacogenomic genotyping to direct clopidogrel therapy for secondary prevention in adult patients who have experienced a stroke or transient ischemic attack (TIA).

AutismNext

November 9, 2017 Genetic Test Evaluation

According to the Centers for Disease Control and Prevention (CDC), approximately 1 in 6 children in the United States had a developmental disability in 2006-2008, ranging from mild disabilities, such as speech and language impairments to serious developmental disabilities, such as intellectual disabilities (IDs), cerebral palsy, and autism. Autism spectrum disorder (ASD) has been identified in 1 in 68 children, according to estimates from the CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network. ASD may occur as an isolated disorder or be part of a genetic syndrome featuring multiple physical abnormalities. Genetic factors have been associated with neurodevelopmental disorders, including...

Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Chromosomal Copy Number Variants

November 9, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for fetal chromosomal copy number variants (CNVs) in women with singleton or multiple gestation pregnancies. There has been a large uptake of cfDNA fetal screening for common trisomies in women at high risk for fetal aneuploidy, with the majority of fetal cfDNA studies published in high-risk populations. In addition, some professional societies and medical practices support cfDNA screening for common trisomies for all pregnant women, regardless of risk. As many laboratories are offering analysis for CNVs along with aneuploidy cfDNA screening, it is important to evaluate published...

Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Sex Chromosome Aneuploidy

October 26, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for sex chromosome aneuploidies (SCAs) in women with singleton or multiple gestation pregnancies. There has been a large uptake of cfDNA fetal screening for common trisomies in women at high risk for fetal aneuploidy, with the majority of fetal cfDNA studies published in high-risk populations. In addition, some professional societies and medical practices support cfDNA screening for common trisomies for all pregnant women, regardless of risk. As many laboratories are offering analysis for SCAs along with common trisomies, it is important to evaluate published evidence for fetal...

Afirma Thyroid FNA Analysis (Veracyte)

October 19, 2017 Genetic Test Evaluation

In recent years, significant advances in understanding the genetic mechanisms of thyroid cancer have changed the way thyroid nodules are treated clinically. Several molecular targets have been associated with malignancy, including microRNA (miRNA), a noncoding endogenous form of RNA that helps regulate gene expression. Previous investigations have detected the dysregulation of miRNAs in malignant thyroid nodules, identifying the potential role of miRNAs in differentiating benign thyroid nodules from malignant ones. The Afirma Thyroid FNA Analysis is a diagnostic service that includes thyroid-specialized cytopathology and gene expression testing for the analysis of FNA thyroid nodule biopsies. This report examines the published...

Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Trisomy 21, 18, and 13 in Low-Risk Women

October 5, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for fetal trisomy 21, 18, and 13 in low-risk women with singleton or multiple gestation pregnancies. There has been a large uptake of cfDNA fetal screening in women at high risk for fetal aneuploidy, with the majority of fetal cfDNA screening studies published in high-risk populations. Some professional societies and medical practices support its use for all pregnant women, regardless of prior risk. Therefore, it is important to evaluate published evidence for fetal cfDNA screening in low-risk women.

MTHFR Genetic Testing in Common Clinical Conditions

August 17, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for MTHFR genotyping in pediatric or adult patients to detect common variants and support genotype-directed treatment of common conditions.