MTHFR Genetic Testing in Common Clinical Conditions

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.

Genetic Testing to Predict Allopurinol Toxicity

August 10, 2017 Genetic Test Evaluation

This report examines the clinical utility of genetic testing of the HLA-B*58:01 variant in patients needing treatment with allopurinol to reduce the production of uric acid. The evidence for the use of genetic testing is evaluated with respect to changing allopurinol dose or changing to another drug in order to avoid severe cutaneous adverse reactions in patients with the high-risk variant.

The Prostate Health Index for Prebiopsy Triage (Beckman Coulter)

July 20, 2017 Genetic Test Evaluation

In the United States, prostate cancer is the second most commonly diagnosed cancer (after skin cancers) and the third most common cause of cancer-related deaths in men. Approximately 1 in 7 men will be diagnosed with prostate cancer in his lifetime. It is estimated that 161,360 men will be diagnosed with prostate cancer and 26,730 will die of the disease in the United States in 2017. Prostate cancer is more common in older men than younger men and is more likely to occur in men with a family history of prostate cancer and men of African American ancestry. Prostate cancer...

Pharmacogenomic Testing for Selected Psychiatric and Behavioral Conditions

May 18, 2017 Genetic Test Evaluation

This report examines the clinical utility of pharmacogenomic testing to inform the selection or dose of medications for individuals diagnosed with depression, mood disorders, psychosis, anxiety, attention-deficit/hyperactivity disorder, or substance use disorder. First, evidence is evaluated to determine whether pharmacogenomic test results change decisions regarding the drug or dose selected by physicians compared with usual care/no genetic testing. Then evidence is assessed as to whether those test-guided decisions result in clinically meaningful improvement in patient response to treatment, or reduction in adverse events as a result of treatment, compared with decisions based on usual care/no genetic testing.

Genetic Testing for Fragile X−Associated Tremor/Ataxia Syndrome (FXTAS)

March 30, 2017 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for fragile X−associated tremor/ataxia syndrome (FXTAS). The goal of this report is to assess how genetic testing of men and women with clinical and/or radiologic features suggestive of FXTAS changes patient outcomes, alters diagnostic thinking, results in decision-making guidance, and/or leads to familial and societal impacts.

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.

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. 

GeneSight Psychotropic (Assurex Health Inc.)

March 2, 2017 Genetic Test Evaluation

Prescription drug use in the United States has steadily increased. Following this trend, pharmacotherapy for the treatment of neuropsychiatric disorders has also increased over the past several decades. According to a 2012 national survey, antidepressants were the third most commonly mentioned drug by therapeutic category at office visits. The benefit of prescription drug use has been established in the treatment of neuropsychiatric disorders; however, physicians and medical professionals face challenges in establishing the best medication options for each individual patient. One factor that can contribute to inter-individual differences in drug response is how the drug is metabolized, which is influenced by genetic factors.  In recognition of...

Prometheus IBD sgi Diagnostic (Prometheus Laboratories Inc.)

March 2, 2017 Genetic Test Evaluation

Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal (GI) tract. IBD is commonly divided into 2 subtypes: Crohn’s disease (CD) and ulcerative colitis (UC). IBD has the potential to cause damage to the bowel in the form of inflammation and ulcers, making it pathologically distinct from other gastrointestinal disorders such as inflammatory bowel syndrome. It is estimated that approximately 10% to 20% of the global population have symptoms of IBD, with 30% of people seeking physician treatment for IBD symptoms. With no established reference standard for IBD diagnosis and subsequent CD and UC diagnoses, clinical findings,...

Next-Generation Sequencing (NGS) for Identification of Microbial Pathogens in Infections

February 23, 2017 Genetic Test Evaluation

The morbidity and mortality associated with chronic and acute infections are substantial, and antimicrobial-resistant pathogens are a global threat. Although there are numerous methods that can be used to identify a pathogen and its resistance profile, these methods are often time-consuming, may be inaccurate, and/or fail to provide sufficient information for the clinical management of individual patients or to reduce the public health impact of an outbreak. Next-generation sequencing (NGS) methods may provide an accurate identification of the causative agent(s) of an infection more rapidly than conventional methods, and may direct treatment based on antimicrobial resistance genes of the pathogens....

Genetic Testing for Fragile X Syndrome

February 16, 2017 Genetic Test Evaluation

This report evaluates the clinical utility of fragile X syndrome (FXS) genetic testing. The evidence is considered for use of genetic testing to diagnose individuals with suspected disease; carrier testing for women with and without a family history of intellectual disability (ID), developmental delay, autism spectrum disorder (ASD), and FXS; prenatal testing for at-risk pregnancies; and newborn screening. The evidence for use of FXS genetic testing for diagnosis is considered, as well as how the diagnosis impacts testing of family members and the identification of incidental findings as part of the genetic work-up. Carrier screening for FXS is evaluated in...

Next-Generation Sequencing (NGS) for Microbial Pathogens in Infection Outbreak Surveillance or Response

February 16, 2017 Genetic Test Evaluation

The morbidity and mortality associated with chronic and acute infections are substantial, and antimicrobial-resistant pathogens are a global threat. Although there are numerous methods that can be used to identify a pathogen and its resistance profile, these methods are often time-consuming, may be inaccurate, and/or fail to provide sufficient information for the clinical management of individual patients or to reduce the public health impact of an outbreak. Next-generation sequencing (NGS) methods may provide an accurate identification of the causative agent(s) of an infection more rapidly than conventional methods, and may direct treatment based on antimicrobial resistance genes of the pathogens....

Next-Generation Sequencing (NGS) for Antimicrobial Resistance Profiling of Pathogens in Infections

February 16, 2017 Genetic Test Evaluation

The morbidity and mortality associated with chronic and acute infections are substantial, and antimicrobial-resistant pathogens are a global threat. Although there are numerous methods that can be used to evaluate the resistance profile of these pathogens, these methods are often time-consuming, may be inaccurate, and/or fail to provide sufficient information for the clinical management of individual patients or to reduce the public health impact of an outbreak. Next-generation sequencing (NGS) methods may provide an accurate identification of the causative agent(s) of an infection more rapidly than conventional methods, and may direct treatment based on antimicrobial resistance genes of the pathogens....

Genetic Testing for PTEN Hamartoma Tumor Syndrome (PHTS)

February 2, 2017 Genetic Test Evaluation

This report examines the clinical utility of PTEN genetic testing of patients at risk for, or diagnosed with, PTEN hamartoma tumor syndrome (PHTS) based upon clinical symptoms, with or without a family history suggestive of PHTS. The goal of this report is to assess how genetic testing of patients meeting this criteria changes patient management, informs treatment selection and/or prognosis, and impacts at-risk family members.

ThyroSeq v.2 (University of Pittsburgh Medical Center, CBLPath)

December 29, 2016 Genetic Test Evaluation

Thyroid nodules are an abnormal growth of thyroid cells that form a lump within the thyroid gland. While the majority of thyroid nodules are benign, they can be an indication of cancer. Thyroid cancer is relatively rare, with about 62,450 new cases diagnosed in the United States in 2016. Imaging studies with ultrasound, combined with cytological examination of thyroid biopsies collected by fine-needle aspiration (FNA) can aid in distinguishing between benign and cancerous thyroid nodules; however, between 10% and 25% of biopsies are indeterminate, meaning that a diagnosis of cancerous versus benign cannot be made on the basis of cytological...

The Clinical Utility of Genetic Testing for Hereditary Breast and Ovarian Cancer in Patients with a Personal History of Breast and/or Ovarian Cancer and a Suggestive Family History

December 22, 2016 Genetic Test Evaluation

This report examines the clinical utility of genetic testing for germline variants in patients with a personal history of breast and/or ovarian cancer and a family history suggestive of hereditary breast and ovarian cancer (HBOC). This report provides an assessment of the evidence for the use of genetic testing in this patient population. The goal of the report is to assess how genetic testing of patients with a personal history of cancer changes patient management, informs treatment selection and/or prognosis, and impacts at-risk family members. 

Genetic Testing for Hereditary Hemorrhagic Telangiectasia

December 22, 2016 Genetic Test Evaluation

This report examines the clinical utility of genetic testing for hereditary hemorrhagic telangiectasia (HHT) in pediatric and adult patients who are symptomatic for HHT and/or have a family history of HHT. The evidence for the use of genetic testing is evaluated in symptomatic and asymptomatic individuals with a family history of HHT, with respect to medical management, testing at-risk family members, and confirmation of diagnosis.

The Clinical Utility of Genetic Testing for Hereditary Breast and Ovarian Cancer in Patients with no Personal History of Cancer and a Suggestive Family History

December 1, 2016 Genetic Test Evaluation

This report examines the clinical utility of genetic testing of unaffected individuals at risk for hereditary breast and ovarian cancer syndrome due to family history. This report provides an assessment of the evidence for the use of genetic testing in this population. The goal of the report is to assess how genetic testing of unaffected patients changes patient management, informs treatment selection and/or prognosis, and impacts at-risk family members.

PancraGen (Interpace Diagnostics)

November 22, 2016 Genetic Test Evaluation

The PancraGEN test is a molecular-based cancer diagnostic test that combines molecular genetic testing with current nongenetic diagnostic methods. It is offered, in conjunction with first-line testing or as a second-line test when first-line testing is equivocal, with the goal of improving diagnosis and management of pancreatic cysts. The PancraGEN test is an offering of Interpace Diagnostics Corporation, subsidiary of PDI Inc. In 2014, PDI Inc. acquired RedPath Integrated Pathology, including their test PathFinderTG for pancreatic cysts. This report will focus on the evidence for PancraGEN and the precursor test,PathFinderTG, to aid in diagnosis and risk determination of the malignant potential of pancreatic cysts.

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...