domingo, 26 de julio de 2015

Genomics|Genetic Testing|Tier 2

Genomics|Genetic Testing|Tier 2

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Genetic Testing

Genomic Tests and Family Health History by Levels of Evidence



The CDC Office of Public Health Genomics ranks the following list for levels of evidence of genomic tests and family health history in practice . This approach was based on a paper by KhouryExternal Web Site Icon and updated in accordance with criteria presented by a 2014 paper in Clinical Pharmacology and TherapeuticsExternal Web Site Icon. The criteria are  shown in the following figure to provide additional information to our readers. This list is updated on an ongoing basis andprovided only for informational purposes to researchers, healthcare providers, public health programs and others.
Green
  • FDA label requires use of test to inform choice or dose of a drug
  • CMS covers testing
  • Clinical practice guidelines based on systematic review supports testing


Yellow
  • FDA label mentions biomarkers*
  • CMS coverage with evidence development
  • Clinical practice guideline, not based on systematic review, supports use of test
  • Clinical practice guideline finds insufficient evidence but does not discourage use of test
  • Systematic review, without clinical practice guideline, supports use of test
  • Systematic review finds insufficient evidence but does not discourage use of test
  • Clinical practice guideline recommends dosage adjustment, but does not address testing


Red
  • FDA label cautions against use
  • CMS decision against coverage
  • Clinical practice guideline recommends against use of test
  • Clinical practice guideline finds insufficient evidence and discourages use of test
  • Systematic review recommends against use
  • Systematic review finds insufficient evidence and discourages use
  • Evidence available only from published studies without systematic reviews, clinical practice guidelines, FDA label or CMS labels coverage decision
*Can be reassigned to Green of Red of one or more conditions in these categories apply 

Tier 2/Yellow category: represents genomic and family health history applications have synthesized evidence that is insufficient to support routine implementation in practice; however, existing evidence may provide information for informed decision making by providers and patients.


Gene, Gene/Drug, Test, or Family Health HistoryDisorder/IndicationUse*Synthesized Evidence Sources
Cancer—Breast
gene expression profilesbreast cancerRecurrence:  risk prediction; prognosticEGAPPExternal Web Site Icon (2009)
ER-alpha and PgR status/ER-alpha (ESR1)-modulating agentsinvasive breast cancer and breast cancerPGx - recurrence risk prediction; prognostic
ASCO/CAPExternal Web Site Icon (2010)
CYP2D6/tamoxifenrisk for primary breast cancer or breast cancer recurrencePGx – informing therapeutic choiceBCBSA TECExternal Web Site Icon (2014)
Cancer—Colorectal
first-degree family health history of colorectal cancer at a younger age or multiple affected first-degree relativescolorectal cancer screeningrisk predictionUSPSTFExternal Web Site Icon (2008)
BRAF c.1799T>A (p.V600E)colon cancerprognostic
BRAF V600E/cetuximab, panitumumabmetastatic colorectal cancerPGx
UGT1A1/irinotecanMetastatic carcinoma of the colon or rectumPGx
EGAPPExternal Web Site Icon (2009)
testing for Lynch syndromepatients meeting revised Bethesda guidelines or Amsterdam criteriadiagnostic, screening
NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment - Colorectal  (2014)
testing for Lynch syndromeendometrial cancer in women under 50 years of agediagnostic, screening
NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment - Colorectal  (2014)
consideration of testing for Lynch syndromepeople with 5% or higher risk of Lynch syndrome based on any prediction modeldiagnostic, screening
NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment - Colorectal  (2014)
testing for Lynch syndromecolorectal cancer diagnosed under 70 years of age, and those 70 and older who meet Bethesda guidelinesdiagnostic, screening
NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment - Colorectal  (2014)
testing for Lynch syndromecolorectal cancer in patients younger than 50 yearsdiagnostic, screening
NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment - Colorectal  (2014)
testing for Lynch syndromesynchronous or metachronous colorectal or other Lynch syndrome-related tumors, at any agediagnostic, screening
NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment - Colorectal  (2014)
testing for Lynch syndromeMSI-H histology in colorectal cancer patients younger than 60 yearsdiagnostic, screening
NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment - Colorectal  (2014)
testing for Lynch syndromecolorectal cancer in patient with relative (one or more first-degree) with Lynch syndrome related cancer that was diagnosed under age 50 yearsdiagnostic, screening
NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment - Colorectal  (2014)
testing for Lynch syndromecolorectal cancer in patient with relatives (two or more first- or second-degree) with Lynch syndrome related cancer at any agediagnostic, screening
NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment - Colorectal  (2014)
Cancer—Leukemia
FLT3-ITDacute myeloid leukemiapredictive; prognostic
CEBPA mutationacute myeloid leukemiapredictive; prognostic
NPM1 mutationacute myeloid leukemiapredictive; prognostic
KIT mutationacute myeloid leukemiapredictive; prognostic
Philadelphia chromosome/busulfanchronic myelogenous leukemiaPGxFDA-PGx Drug InformationExternal Web Site Icon(2003)
UGT1A1*28homozygotes/nilotinibPhiladelphia chromosome positive chronic myeloid leukemiaPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
FIP1L1-PDGFRα kinase/imatinibhypereosinophilic syndrome and/or chronic eosinophilic leukemiaPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2013)
TPMT/thiopurines (mercaptopurine)acute lymphatic leukemiaPGx-dose
CPICExternal Web Site Icon (2011)
TPMT/thiopurines (thioguanine)acute, non-lymphocytic leukemiasPGx-dose
CPICExternal Web Site Icon (2011)
Cancer—Lung
KRAS mutations [except c38G>A]/anti-EGFR therapynon–small cell lung cancerpredictive; prognosticNCCN Task ForceExternal Web Site Icon (2011)
Cancer—Melanoma
G6PD/dabrafenibunresectable or metastatic melanomaPGxFDA-PGx Drug InformationExternal Web Site Icon(2014)
family history of skin cancerskin cancer screening in adultsrisk predictionUSPSTFExternal Web Site Icon (2009)
Cancer—Other
DPD testing/5-FU (capecitabine)Dukes’ C colon cancer, metastatic colorectal cancer, metastatic breast cancerPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
family history of bladder cancerbladder cancer screeningrisk predictionUSPSTFExternal Web Site Icon (2011)
c-Kit D816V/imatinibaggressive systemic mastocytosisPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
TPMT/cisplatinmetastatic testicular tumors, metastatic ovarian tumors, advanced bladder cancerPGxFDA-PGx Drug InformationExternal Web Site Icon(2011)
Cardiovascular
family history relevant to dyslipidemia (otherwise undefined)lipid screening in  infants, children, adolescents, or young adults (up to age 20)risk predictionUSPSTFExternal Web Site Icon (2007)
first-degree family health history of abdominal aortic aneurysm requiring surgical repairabdominal aortic aneurysm screeningrisk predictionUSPSTFExternal Web Site Icon (2005)
SLCO1B1/simvastatindyslipidemiaPGx-doseCPICExternal Web Site Icon (2012)
CYP2C9, VKORC1/warfarinvenous thrombosis, pulmonary embolism, thromboembolic complications associated with atrial fibrillation and/or cardiac valve replacement, myocardial infarctionPGx-dose
CMS CEDExternal Web Site Icon (2009)
ACMGExternal Web Site Icon (2008)
CPICExternal Web Site Icon (2011)
CYP2D6/metoprololhypertension, angina pectoris, heart failurePGxFDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6/carvedilolchronic heart failure, left ventricular dysfunction following myocardial infarction, hypertensionPGxFDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6/carvedilolchronic heart failure, left ventricular dysfunction following myocardial infarction, hypertensionPGxFDA-PGx Drug InformationExternal Web Site Icon(2011)
CYP2D6/propafenoneatrial fibrillationPGxFDA-PGx Drug InformationExternal Web Site Icon(2011)
CYP2C19/clopidogrelnon-ST-segment elevation acute coronary syndrome, ST-elevation myocardial infarction, myocardial
infarction, stroke, peripheral arterial disease
PGx
CPICExternal Web Site Icon (2013)
AHRQExternal Web Site Icon (2013)
CYP2C19/prasugrelacute coronary syndrome managed with percutaneous coronary interventionPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19/tricagreloracute coronary syndromePGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
LDLR/pravastatinhypercholesterolemiaPGxFDA-PGx Drug InformationExternal Web Site Icon(2012)
F5, SERPINC1/eltrombopagthrombocytopeniaPGxFDA-PGx Drug InformationExternal Web Site Icon(2012)
Endocrine disorders
G6PD/chlorpropamideglycemic control, type 2 diabetes in adultsPGxFDA-PGx Drug InformationExternal Web Site Icon(2011)
G6PD/glimepirideglycemic control, type 2 diabetes in adultsPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/glipizideglycemic control, type 2 diabetes in adultsPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/glyburideglycemic control, type 2 diabetes in adultsPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
Gastroenterology
CYP2C19/pantoprazolegastroesophageal reflux disease, pathological hypersecretory conditionsPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19/omeprazoleduodenal ulcer, gastric ulcer, gastroesophageal reflux diseasePGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19/esomeprazolegastroesophageal reflux disease, NSAID-associated gastric ulcer, duodenal ulcer recurrence, pathological hypersecretory
conditions
PGxFDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2C19/rabeprazolegastroesophageal reflux disease, duodenal ulcers, pathological hypersecretory conditionsPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19, CYP1A2/dexlansoprazoleerosive esophagitis, heartburnPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
Infectious Disease
G6PD/chloroquine phosphatemalaria, extraintestinal amebiasisPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/dapsone (tablet)leprosyPGxDailyMedExternal Web Site Icon (2011)
G6PD/mafenide acetate (for 5% topical solution)bacterial infectionsPGxFDA-PGx Drug InformationExternal Web Site Icon(1998)
G6PD/nitrofurantoinantibacterial, specific urinary tract infectionsPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/primaquinevivax malaria, radical cure (prevention of relapse)PGxFDA-PGx Drug InformationExternal Web Site Icon(2008)
G6PD/quinine sulfateuncomplicatedPlasmodium falciparum malariaPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/sulfamethoxazole & trimethoprimbacterial infectionsPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
IL28B/boceprevirchronic hepatitis C genotype 1PGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
IL28B/telaprevirchronic hepatitis C genotype 1PGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
IL28B/peginterferon alfa-2bchronic hepatitis CPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19/voriconazole invasive aspergillosis, candidemia and disseminated candidiasis, esophageal candidiasis,Scedosporium apiospermum andFusarium spp. infectionPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2011)
Neurology
CYP2C19/clobazamseizures associated with Lennox-Gastaut syndromePGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2013)
HLA-B*1502/phenytoingeneralized tonic-clonic status epilepticus and for seizures that occur during neurosurgery; testing pertains to risk for certain serious dermatologic reactions, which may be higher in patients of Chinese or Asian ancestryPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
HLAB*1502/ carbamazepineepilepsy, other seizure disorders, trigeminal neuralgia, bipolar disorderPGx-doseCPICExternal Web Site Icon (2013)
CYP2D6, CYP2C19/diazepamepilepsyPGxFDA-PGx Drug InformationExternal Web Site Icon(2005)
CYP2D6/dextromethorphan and quinidinepseudobulbar affectPGx, PGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2010)
Psychiatry
parental history of depressionmajor depressive disorder screening in adolescentsrisk predictionUSPSTFExternal Web Site Icon (2009)
family history of depressiondepression screening in adultsrisk predictionUSPSTFExternal Web Site Icon (2009)
CYP2D6/amitriptylinedepressionPGx-dose
CPICExternal Web Site Icon (2013)
CYP2D6/desipraminedepressionPGx-dose
CPICExternal Web Site Icon (2013)
CYP2D6/fluoxetinemajor depressive disorder, obsessive compulsive disorder, bulimia nervosa, panic disorderPGxFDA-PGx Drug InformationExternal Web Site Icon(2009)
CYP2D6/imipraminedepressionPGx-dose
CPICExternal Web Site Icon (2013)
CYP2D6/nortriptylinedepressionPGx-dose
CPICExternal Web Site Icon (2013)
CYP2D6/trimipraminedepressionPGx-dose
CPICExternal Web Site Icon (2013)
CYP2D6/venlafaxinemajor depressive disorder, social anxiety disorderPGx, PGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2C19, CYP2D6/citalopramdepressionPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6/aripiprazoleschizophrenia, bipolar I disorder, major depressive disorder, autistic disorderPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2D6/clozapineschizophrenia, schizoaffective disorderPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2D6/iloperidoneschizophreniaPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2D6/risperidoneschizophrenia, bipolar I disorder, autistic disorderPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6/atomoxetineattention-deficit/hyperactivity disorderPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2D6/clomipramineobsessive-compulsive disorderPGx-dose
CPICExternal Web Site Icon (2013)
CYP2D6, CYP2C19/fluvoxamineobsessive compulsive disorderPGxFDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6, CYP2C19/doxepininsomniaPGx-dose
CPICExternal Web Site Icon (2013)
CYP2D6/modafinilnarcolepsy, obstructive sleep apnea, and shift work disorderPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2010)
Rheumatology
CYP2C19/carisoprodolmusculoskeletal conditionsPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C9/celecoxibosteoarthritis, rheumatoid arthritis, juvenile rheumatoid arthritis, ankylosing spondylitis, acute pain, primary dysmenorrheaPGx-doseFDA-PGx Drug InformationExternal Web Site Icon(2011)
CYP2C9/flurbiprofenrheumatoid arthritis, osteoarthritisPGxFDA-PGx Drug InformationExternal Web Site Icon(2010)
TPMT/thiopurines (azathioprine)renal homotransplantation, rheumatoid arthritisPGx-dose
CPICExternal Web Site Icon (2011)
Other
family history of developmental dysplasia of the hipdevelopmental dysplasia of the hip screening in infantsrisk predictionUSPSTFExternal Web Site Icon (2006)
family history of diabetesgestational diabetes screeningrisk predictionUSPSTFExternal Web Site Icon (2008)
family history of neonatal jaundiceHyberbilirubinemia screening in infants; prevention of chronic bilirubin encephalopathyrisk predictionUSPSTFExternal Web Site Icon (2009)
family history of age-related macular degenerationvisual acuity screening in older adultsrisk predictionUSPSTFExternal Web Site Icon (2009)
family history of chronic kidney diseasechronic kidney disease screeningrisk predictionUSPSTFExternal Web Site Icon (2012)
family history for common diseasescommon diseasesrisk predictionNIH State of the ScienceExternal Web Site Icon (2009)
CYP2D6/tolterodineoveractive bladderPGxFDA-PGx Drug InformationExternal Web Site Icon(2012)
HPRT1/mycophenolic acidorgan rejectionPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19/drospirenone and ethinyl estradiolpregnancy prevention, premenstrual dysphoric disorder, moderate acnePGxFDA-PGx Drug InformationExternal Web Site Icon(2012)
UGT1A1/indacaterolchronic obstructive pulmonary disease, including chronic bronchitis and/or emphysemaPGxFDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6/codeinepainPGx-dose
CPICExternal Web Site Icon (2012)
CYP2D6/tramadol and acetaminophenacute painPGx
CYP2D6/cevimelinedry mouth in patients with Sjögren’s SyndromePGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
DPD/fluorouracil creammultiple
actinic or solar keratoses
PGxFDA-PGx Drug InformationExternal Web Site Icon(2003)
G6PD/dapsone (gel)acne vulgarisPGxFDA-PGx Drug InformationExternal Web Site Icon(2009)
G6PD/dapsone (tablet)dermatitis herpetiformisPGxDailyMedExternal Web Site Icon (2011)
G6PD/(polyethylene glycol 3350, sodium sulfate, sodium chloride, potassium chloride, sodium ascorbate, & ascorbice acid for oral solution)laxative, preparation for colonoscopy in adultsPGxFDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/sodium nitritelife-threatening, acute cyanide poisoningPGxFDA-PGx Drug InformationExternal Web Site Icon(2012)
G6PD/succimerlead poisoning, pediatricPGxFDA-PGx Drug InformationExternal Web Site Icon(2007)
next generation sequencing/whole genome sequencevarious rare familial diseasesdiagnosticBCBS TEC Adobe PDF file [PDF 210.52 KB]External Web Site Icon(2013)
various molecular, cytogenetic biochemical and other tests**single gene disorders and chromosomal abnormalities where diagnosis and management may require use of genetic tests even without formal evidence synthesis and reviews by evidence panelsdiagnosis, management, carrier testingNIH GTRExternal Web Site Icon (2013)


*Pharmacogenomic applications have been classified in the Use column as either PGx (which may relate to drug choice, prevention of adverse events, or other uses of the information gained through testing), or PGx-dose (when specific dosing-related guidance is provided, or mention of a potential effect on dose is noted in the evidence sources cited). Additional Use categories include: screening, cascade testing, risk prediction, diagnostic, and prognostic.
**This entry includes many genetic disorders for which there are no evidence-based recommendations, clinical guidelines or systematic reviews. However, a systematic search for evidence-based recommendations and reviews has not been conducted to date by our office. We expect further refinements in this classification in the near future.
Source Abbreviations: Agency for Healthcare Research and Quality (AHRQ), American College of Medical Genetics and Genomics (ACMG), American Society of Clinical Oncology (ASCO), Centers for Medicare and Medicaid Services (CMS), Clinical Pharmacogenetics Implementation Consortium (CPIC), Evaluation of Genomic Applications in Practice and Prevention (EGAPP), National Comprehensive Cancer Network (NCCN), National Institute for Health and Care Excellence (NICE), National Institutes of Health (NIH), Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), US Department of Health and Human Services (DHHS), US Food and Drug Administration (FDA), United States Preventive Services Task Force (USPSTF)
Other Abbreviations: estrogen receptor (ER), progesterone receptor (PgR), pharmacogenomics (PGx), single-nucleotide polymorphism (SNP)

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