AlloMap (CareDx)

AlloMap (CareDx)

November 22, 2016 Genetic Test Evaluation

Heart transplantation is a widely accepted therapy for the treatment of end-stage cardiac disease. Approximately 20,000 people in the United States now live with a transplanted heart. Survival is nearly 90% at 1 year, 74.0% at 5 years, and the median survival is more than 10 years. Although long-term outcomes of cardiac transplantations have steadily improved, numerous life-threatening complications persist, including infection, allograft rejection, and allograft vascular disease. Allograft rejection is most frequent within the first month following transplantation and declines progressively thereafter. Endomyocardial biopsy is currently the standard for detecting allograft rejection after heart transplantation. Typically, the patient will...

ProMark Proteomic Prognostic Test (Metamark Genetics Inc.)

November 17, 2016 Genetic Test Evaluation

An estimated 180,890 new cases of prostate cancer will be diagnosed in 2016, which accounts for 10.7% of all new cancer cases in the United States. Prostate cancer is the second leading cause of cancer death in the United States, with approximately 12.9% of men being diagnosed during their lifetime. For men diagnosed with prostate cancer from 2006 to 2012, the 5-year survival rate is 98.9%. While survival rates are high, variability in the clinical stage of cancer at the time of diagnosis impacts survival rates, with 5-year survival rates of 29.3% if the cancer has metastasized. Patients with prostate...

Breast Cancer Index (bioTheranostics Inc.)

October 13, 2016 Genetic Test Evaluation

Breast cancer is the most common cancer for American women other than skin cancer.  Although breast cancer is common, if it is identified early (when localized), the 5-year survival rate for women is 98.8%. However, the survival rate is lower (85.2%) if the cancer has spread to the lymph nodes (i.e., node-positive [N+]) and drops dramatically to 26.3% if it has metastasized.  Adjuvant chemotherapy is used in the treatment of many patients with a high risk for breast cancer recurrence to reduce the risk of recurrence following surgical resection. However, not all women who receive adjuvant treatments will benefit from them; therefore, physicians and patients must balance the benefits along with...

Whole Genome Sequencing (WGS) in Neonatal and Pediatric Patients

September 22, 2016 Genetic Test Evaluation

This report examines the clinical utility of whole genome sequencing (WGS) in neonatal and pediatric populations. Given the recent emergence of the technology, there is considerable interest in its clinical use and ability to identify deleterious variants not always identified through traditional diagnostic methods, including targeted genetic testing. Currently, there are no clinical guidelines directing the general use of WGS; however, there are specific conditions that suggest WGS as an appropriate diagnostic method to identify the underlying genetic etiology of the disorder. In this report, we evaluate the evidence for WGS in neonatal and pediatric patients with regard to clinical...

Genetic Testing for Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

September 8, 2016 Genetic Test Evaluation

This report examines the clinical utility of genetic testing for diagnosis of hereditary leiomyomatosis and renal cell cancer (HLRCC) in symptomatic patients and their at-risk family members. The evidence for the use of genetic testing is evaluated with respect to screening for potential HLRCC patients, renal cancer surveillance and early detection, and the fertility impact of and morbidity from multiple uterine leiomyoma.

SLCO1B1 Pharmacogenomic Genotyping for Statin Dosing or Selection

August 4, 2016 Genetic Test Evaluation

This report examines the clinical utility of genotyping for SLCO1B1 variants in pediatric or adult patients needing treatment with a statin to reduce low-density lipoprotein cholesterol. The evidence for the use of genetic testing is evaluated with respect to selecting statin type or dose in order to improve statin prescribing and patient adherence, and to avoid adverse events such as skeletal muscle pain.

Whole Exome Sequencing for Neurological Conditions in Pediatric Populations

July 28, 2016 Genetic Test Evaluation

With the recent advances in whole exome sequencing (WES) technologies, there has been considerable interest in its clinical application. This report assesses the evidence for the use of WES for neurological conditions in pediatric populations after standard diagnostic and genetic tests failed to provide a definitive diagnosis. The goal of the report is to assess the clinical utility of WES, including the presumed diagnostic rate and how a diagnosis changes patient management. 

Blood-Based Genetic Testing for Colorectal Cancer Screening

July 28, 2016 Genetic Test Evaluation

Screening for colorectal cancer (CRC) allows for the early detection and removal of cancers or precancerous polyps, resulting in improved overall survival. Despite current screening recommendations and screening tools, compliance is low. In an attempt to increase compliance, several blood-based genetic tests have been developed and are offered commercially. However, before this testing is used in clinical practice, it is important to establish whether it results in changes to clinical management and improves patient outcome. This report examines the clinical utility of blood-based screening tests for CRC.

Epi proColon (Epigenomics Inc.)

June 23, 2016 Genetic Test Evaluation

Colorectal cancer (CRC) is one of the leading causes of cancer-related deaths in the United States. It is estimated that approximately 134,000 individuals will be diagnosed with CRC in 2016, and approximately 49,000 people will die from the disease. It is established that screening for CRC allows for the early detection and removal of cancers or precancerous polyps, resulting in improved overall survival. However, since not all polyps have the potential for malignancy, appropriate management of some types of polyps is controversial. There are multiple screening approaches that may include colonoscopy, sigmoidoscopy, fecal immunochemical test (FIT), and/or a high-sensitivity fecal occult blood test (FOBT). However, it is estimated that approximately half of Americans ≥ 50 years...

DecisionDx-UM (Castle Biosciences Inc.)

June 9, 2016 Genetic Test Evaluation

Background: The most common intraocular malignancy in adults is melanoma of the uveal tract (uveal melanoma [UM]), with a reported incidence of 4 to 5 new cases per million people (Blum et al., 2016; Nichols et al., 2016). Males are slightly more likely to be affected than are females. The risk of developing UM increases with age, with a peak incidence at age 70 years. Individuals who are white and have light eye and skin color have a higher risk of developing UM than do other individuals. Melanoma can occur in any part of the uveal tract, including the anterior part...