Clinical White Papers

The Pharmacogenomic (PGx) Algorithm: A common discussion among experts revolves around pharmacogenomic (PGx) testing algorithms. Many commercial tests are proprietary, and therefore, their algorithms are considered a “black box”.¹ This…

In multiple previous studies, the GeneSight test, a combinatorial multigene pharmacogenomic test, powered by CPGx® technology, has shown an ability to predict poorer antidepressant outcomes and to help guide healthcare…

No clear clinical guidelines currently exist to identify good candidates for psychiatric pharmacogenomic testing. The choice for testing is entirely at the discretion of the healthcare provider. While pharmacogenomic testing…

The GeneSight^® test is a pharmacogenomic test – not a diagnostic test. Diagnostic testing and pharmacogenomic testing are two different types of genetic tests. In some ways they are similar;…

Why does the GeneSight test only test for pharmacogenomic markers and not diagnostic markers? While a great deal of groundbreaking research is being conducted on the genetic etiology of psychiatric…

The ADRA2A -1291 G>C polymorphism has been studied extensively with methylphenidate treatment outcomes in ADHD. While certain studies have produced inconclusive results, evidence suggests that individuals with the C/C…

ANK3 has not been shown to inform on patient medication response and therefore is not a pharmacogenomic marker. As a disease marker, it lacks clinical utility. There is an…

Minimal evidence exists linking CACNA1C as a pharmacogenomic marker, and CACNA1C shows little clinical utility as a disease marker. While there is an association between CACNA1C and bipolar disorder…

CES1A1 is the primary enzyme responsible for the metabolism of methylphenidate (MPH).1 The Gly143Glu polymorphism reduces enzyme activity, which could result in elevated plasma concentrations of some parent compounds…

The Val158Met polymorphism (rs4680) in the COMT gene can affect baseline levels of synaptic catecholamines. Several studies have assessed the impact of this polymorphism on treatment outcomes with psychotropic…

CYP1A2 is a pharmacokinetic enzyme that is involved in the metabolism of various antidepressants, anxiolytics and hypnotics, and antipsychotics. The A allele in the CYP1A2 -163C>A polymorphism is highly inducible by smoking.

What is DRD2? The dopamine D2 receptor, encoded by the DRD2 gene, plays a critical role in response to antipsychotic medications. All antipsychotic medications bind to the D2 receptor, underscoring…

The human leukocyte antigen (HLA) complex plays an important role in immune regulation. HLA-B*1502 has demonstrated the ability to predict an increased risk of severe skin reactions, such as Stevens-Johnsons…

What is HTR2A? The 5-HT2A receptor, encoded by the HTR2A gene, is responsible for post-synaptic serotonin signaling and is a target for many antipsychotics and antidepressants.1 Two single nucleotide polymorphisms…

The serotonin transporter gene, SLC6A4, has demonstrated the ability to predict efficacy and adverse events with SSRI treatment, particularly for patients of Caucasian ancestry. The SLC6A4 promoter has two…

What is UGT1A4? The UGT1A4 gene encodes an enzyme of the glucuronidation pathway, a phase II metabolism process that transforms small lipophilic molecules into water-soluble excretable metabolites. The UGT1A4 enzyme…

What is UGT2B15? The UGT2B15 gene encodes an enzyme responsible for glucuronidation, a phase II metabolic reaction that transforms small lipophilic molecules into water-soluble excretable metabolites. The UGT2B15 enzyme is…