Genetic Test Evaluation

understanding how genetic tests impact patient management

The Genetic Test Evaluation program is a compilation of evidence-based assessments of genetic tests that provide clinicians with a clear,
objective view of the science behind genetic tests, the clinical evidence supporting them, and the use of these tests in clinical practice.

View a sampling of our GTE program.

PGxOne Plus (Admera Health)

March 23, 2017 Genetic Test Evaluation

Clinicians choose drugs for patient treatment based on a variety of factors, including efficacy, safety, tolerability, drug interactions, anticipated adverse effects, and cost. There are well-known differences among patients in drug effectiveness and adverse effects, with most drugs being effective for only 30% to 60% of patients. In addition, there is the potential for drug toxicity or adverse events due to varying drug responses. One factor that can contribute to differences in drug response is how the drug is metabolized, which often may be influenced by genetic factors. Variable rates in drug metabolism can impact how an individual will respond...

MTHFR Pharmacogenetic Genotyping for Altering Drug Treatment

March 23, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for MTHFR pharmacogenomic genotyping in pediatric or adult patients to alter drug choice, drug dose, or otherwise mitigate drug treatment according to patient genotype in order to avoid adverse events, maintain adherence, and improve disease outcomes.

ExomeNext (Ambry Genetics)

March 16, 2017 Genetic Test Evaluation

Whole exome sequencing (WES) is a technology that has recently emerged as an extension of next-generation sequencing (NGS). Unlike early genetic testing methods that evaluated single variants or individual genes, NGS methods allow interrogation of multiple variants in parallel. WES further extends the capabilities of NGS technology to evaluate the protein-coding regions of the genome. Although initially available only through research protocols, exome sequencing has begun to enter the clinical setting due to the potential to identify causal variants for a wide variety of genetic conditions that may be missed with other technologies. When used for diagnostic purposes in a...

ToxProtect (Genotox Laboratories)

March 9, 2017 Genetic Test Evaluation

Drug overdose cases have increased in recent years with opioid-related deaths comprising more than 60% of all overdose deaths. Approximately half of these deaths are caused by a prescription opioid. The Centers for Disease Control and Prevention (CDC) has recommended more careful prescribing of opioids to ensure better treatment and reduction of abuse and overdose. Urine drug screening and testing (UDT) can signal concerning drug-related behavior in patients that can be addressed by the physician. There are several limits to current UDT, including the potential substitution of urine with another sample by the patient, as well as improper labeling and...

Genetic Testing for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)

March 9, 2017 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for fragile X-associated primary ovarian insufficiency (FXPOI). The goal of this report is to assess how genetic testing of women with primary ovarian insufficiency (POI) to diagnose FXPOI changes patient outcomes, alters diagnostic thinking, results in decision-making guidance, and leads to familial and societal impacts.