Oncotype DX Genomic Prostate Score (GPS) Assay (Genomic Health Inc.)

Oncotype DX Genomic Prostate Score (GPS) Assay (Genomic Health Inc.)

November 12, 2018 Genetic Test Evaluation

Screening and treatment for prostate cancer is controversial due to the potential for overdiagnosis and overtreatment, with possible harms that may affect quality of life. Many prostate cancers grow very slowly and affected men may die of other causes before prostate cancer becomes symptomatic. Despite available clinical risk stratification methods, there often remains uncertainty regarding the optimal management of individual patients with localized prostate cancer. Tumor tissue present in a needle biopsy specimen may not accurately represent the entire tumor, resulting in possible overestimation or underestimation of risk for disease progression. Desire for increased precision in diagnosis and management recommendations...

Oncotype DX Breast DCIS Score (Genomic Health Inc.)

November 8, 2018 Genetic Test Evaluation

According to the testing laboratory, the Oncotype DX Breast DCIS Score test is used to aid in predicting the risk of 10-year local or invasive cancer recurrence and establish a baseline for consideration of absolute benefit from radiation therapy in women diagnosed with ductal carcinoma in situ (DCIS).

Genetic Testing for Individuals Clinically Diagnosed with Brugada Syndrome

September 28, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for Brugada syndrome in individuals clinically diagnosed with the disorder.

Genetic Testing for Family Members of Individuals with Brugada Syndrome

September 28, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for family members of individuals with Brugada syndrome.

Clinical Utility of Prenatal Genetic Testing for Autism Spectrum Disorder

September 28, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for autism spectrum disorder (ASD) during the prenatal period to independently predict risk in the fetus and improve postnatal outcomes.

DecisionDx-Melanoma

August 31, 2018 Genetic Test Evaluation

The staging of melanoma is important to predict risk of recurrence and guide surveillance and treatment. Current guidelines for staging include evaluating multiple features: tumor thickness, ulceration, regional lymph node status, and metastasis. Staging parameters provide some information of value in disease management, but there is wide variability in rates of metastasis, even for cancers of the same stage, limiting their predictive power. The development of additional tools that may provide more accurate information regarding staging and metastatic risk is, therefore, an area of active interest. One such tool is the DecisionDx-Melanoma test, a multigene expression assay that is designed...

FoundationOne CDx (Foundation Medicine Inc.)

August 29, 2018 Genetic Test Evaluation

According to the testing laboratory, the FoundationOne CDx (F1CDx) is a companion diagnostic test used to identify patients who may benefit from treatment with Food and Drug Administration (FDA)-approved targeted therapies. Additionally, the test is intended to provide tumor mutation profiling that includes the screening of biomarkers without companion diagnostic claims. This report evaluates the analytical validity, clinical validity, and clinical utility of the F1CDx test.

Clinical Utility of Genetic Testing to Aid in the Evaluation of Idiopathic Autism Spectrum Disorder

August 22, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for autism spectrum disorder (ASD) to determine genetic etiology and to improve outcomes in patients clinically diagnosed with idiopathic ASD and/or in first-degree relatives of individuals with clinically diagnosed idiopathic ASD.

Clinical Utility of Genetic Testing to Aid in the Evaluation of Syndromic or Complex Autism Spectrum Disorder

August 22, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for autism spectrum disorder (ASD) to determine genetic etiology, improve outcomes in patients with clinically diagnosed ASD who also have characteristics suggesting a complex genetic syndrome or condition, and/or improve outcomes in their first-degree relatives.  

Genetic Testing for Alpha-1 Antitrypsin Deficiency Associated with Chronic Liver Disease

July 31, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of SERPINA1 genetic testing to diagnose alpha-1 antitrypsin deficiency (AATD) in patients, including children, with unexplained chronic liver disease, and in first-degree relatives of individuals with known AATD.

Genetic Testing for Alpha-1 Antitrypsin Deficiency Associated with Lung Disease

July 31, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of SERPINA1 genetic testing for AATD to diagnose alpha-1 antitrypsin deficiency (AATD) in patients with signs and symptoms of lung disease and in first-degree relatives of individuals with known AATD.

CancerTYPE ID (bioTheranostics Inc.)

July 30, 2018 Genetic Test Evaluation

The identification of the primary site of cancer is the basis for prognosis and determination of appropriate treatment for patients with metastatic cancer. However, even with the vast available diagnostic tests and evaluations, a detailed investigation can still fail to identify the primary cancer site in a subset of patients. Recent advances in genomic profiling provide opportunities to characterize cancer of unknown primary (CUP) and offer insight into pathways and cellular systems with abnormalities that may help guide therapy. This report reviews the CancerTYPE ID test, which is intended to aid in the identification of the site of origin in...

Clinical Utility of Genetic Testing for Primary Diagnosis of Autism Spectrum Disorder

June 29, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for autism spectrum disorder (ASD) to independently diagnose and improve outcomes in children younger than 5 years of age with suspected but not yet clinically diagnosed ASD.

Counsyl Reliant Cancer Screen (Counsyl Inc.)

June 26, 2018 Genetic Test Evaluation

An estimated 5% to 10% of all cancers result directly from gene defects passed down from generation to generation, often referred to as heritable cancers. While the presence of a germline variant associated with a heritable cancer syndrome does not guarantee a cancer diagnosis, an individual carrying a heritable cancer gene variant is at an increased lifetime risk for cancer. This Synopsis specifically focuses on the Counsyl Reliant Cancer Screen panel test. This Synopsis does not evaluate the evidence for germline cancer gene panel testing, in general, or specific gene associations.

Genetic Testing for Inflammatory Bowel Disease(s)

June 20, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for inflammatory bowel disease (IBD) for individuals with known or suspected IBD or asymptomatic individuals with a family history of IBD.

HLA-DQ2/DQ8 Genotyping to Establish a Non-biopsy Diagnosis of Celiac Disease in Symptomatic Children

June 15, 2018 Genetic Test Evaluation

This report evaluates the clinical utility for the use of HLA-DQ2/DQ8 genotyping to establish a non-biopsy diagnosis of celiac disease (CD) in symptomatic children.

HLA-DQ2/DQ8 Genotyping for Celiac Disease in Asymptomatic Individuals with Type 1 Diabetes

June 15, 2018 Genetic Test Evaluation

This report evaluates the clinical utility for the use of HLA-DQ2/DQ8 genotyping for celiac disease (CD) in asymptomatic individuals with type 1 diabetes (T1DM).

HLA-DQ2/DQ8 Genotyping in Asymptomatic Relatives of Individuals with Celiac Disease

June 15, 2018 Genetic Test Evaluation

This report evaluates the clinical utility for the use of HLA-DQ2/DQ8 genotyping in asymptomatic relatives of individuals with celiac disease (CD).

HLA-DQ2/DQ8 Genotyping to Rule Out Celiac Disease in Symptomatic Individuals with an Uncertain Diagnosis

June 15, 2018 Genetic Test Evaluation

This report evaluates the clinical utility for the use of HLA-DQ2/DQ8 genotyping to rule out celiac disease (CD) in symptomatic individuals with an uncertain diagnosis.

myPath Melanoma (Myriad Genetics)

May 14, 2018 Genetic Test Evaluation

This report evaluates the analytical validity, clinical validity, and clinical utility of the myPath Melanoma test (Myriad Genetics) as an adjunct diagnostic tool to distinguish between benign nevi and malignant melanoma when histopathologic results of a patient are not clear.