domingo, 26 de julio de 2015

Genomics|Genetic Testing|Tier 1

Genomics|Genetic Testing|Tier 1

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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 1/Green category: represents genomic and family health history applications which have a base of synthesized evidence supporting implementation into practice.


Gene, Gene/Drug, Test, or Family Health HistoryDisorder/IndicationUse*Synthesized Evidence Sources
Cancer—Breast/Ovarian
family health history of breast/ovarian or other types of BRCA-related cancerhereditary breast and ovarian cancer in womenrisk prediction for referral for BRCA genetic counseling
USPSTFExternal Web Site Icon (2013)
first-degree family health history of breast cancerchemoprevention of breast cancerrisk predictionUSPSTFExternal Web Site Icon (2013)
family history of known breast/ovarian cancer with deleterious BRCA mutationhereditary breast and ovarian cancer in womenrisk prediction; referral to counseling for BRCA genetic testingUSPSTFExternal Web Site Icon (2013)
HER2/trastuzumabinvasive breast cancerPGx
ASCOExternal Web Site Icon (2007)
FDA-DeviceExternal Web Site Icon (2013)
HER2/pertuzumabinvasive breast cancerPGx
FDA-DeviceExternal Web Site Icon (2013)
HER2/ado-trastuzumab emtansinemetastatic breast cancerPGxFDA-PGx Drug InformationExternal Web Site Icon (2013)
HER2/everolimusadvanced HR+ HER2- breast cancerPGxFDA-PGx Drug InformationExternal Web Site Icon (2013)
HER2/lapatinib (in combination with capecitabine or letrozole)advanced or metastatic breast cancerPGxFDA-PGx Drug InformationExternal Web Site Icon (2013)
HER2invasive breast cancerPGx
ASCO/CAPExternal Web Site Icon (2007)
ER /fulvestrantmetastatic breast cancerPGxFDA-PGx Drug InformationExternal Web Site Icon (2012)
ER/exemestaneER+ early breast cancerPGx
ER/anastrozole or letrozoleER+ early invasive breast cancerPGx
ER and PgRinvasive breast cancer, breast cancer recurrencesPGx
ASCO/CAPExternal Web Site Icon (2010)
Oncotype DX® adjuvant chemotherapyER+/LN-/HER2- breast cancer, intermediate risk of recurrenceprognostic; guiding decision-making: adjuvant chemotherapy
NICEExternal Web Site Icon (2013)
Cancer—Colorectal
Testing for Lynch syndromenewly diagnosed colorectal cancerscreening, cascade testing of relatives
EGAPP (2009)
Testing for Lynch syndromeknown Lynch syndrome in familydiagnostic, screening
EGAPP (2009)
NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment - Colorectal  (2014)
KRAS/cetuximab, panitumumabmetastatic colorectal cancerPGx
NCCNExternal Web Site Icon (2011)
ASCOExternal Web Site Icon (2009)
Carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5 or CEA)invasive colorectal cancerprognostic
ASCO/CAPExternal Web Site Icon (2006)
Cancer—Gastric
HER2/trastuzumabgastric or gastroesophageal junction adenocarcinomaPGx
FDA-DeviceExternal Web Site Icon (2013)
c-Kit protein (CD 117)/imatinibgastrointestinal stromal tumorsPGx
FDA-DeviceExternal Web Site Icon (2013)
Cancer—Leukemia/lymphoma
Philadelphia chromosome, T315I mutation/dasatinibchronic myeloid leukemia, acute lymphoblastic leukemiaPGx; diagnosticFDA-PGx Drug InformationExternal Web Site Icon (2013)
Philadelphia chromosome/imatinibchronic myeloid leukemia, acute lymphoblastic leukemiaPGx; diagnosticFDA-PGx Drug InformationExternal Web Site Icon (2013)
Philadelphia chromosome/bosutinibchronic myelogenous leukemiaPGx; diagnostic
Philadelphia chromosome/nilotinibchronic myeloid leukemiaPGx; diagnosticFDA-PGx Drug InformationExternal Web Site Icon (2013)
PML/RARα/tretinoinacute promyelocytic leukemiaPGxFDA-PGx Drug InformationExternal Web Site Icon (2004)
PML/RARα/arsenic trioxideacute promyelocytic leukemiaPGxFDA-PGx Drug InformationExternal Web Site Icon (2010)
PDGFRB/imatinibmyelodysplastic/ myeloproliferative diseasesPGx
CD25/denileukin diftitoxpersistent or recurrent cutaneous T-cell  lymphomaPGx
CD20/tositumomabNon-Hodgkin's lymphomaPGx
G6PD/rasburicaseleukemia, lymphoma, solid tumor malignanciesPGx, pretreatment screening in patients at higher risk for G6PD deficiency (e.g., African or Mediterranean ancestry)CPICExternal Web Site Icon (2014)
Chromosome 5q deletion/lenalidomidetransfusion-dependent anemia due to low-or intermediate-1-risk myelodysplastic syndromes associated with a deletion 5qPGx
Cancer—Lung
EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations)/afatinibmetastatic non-small-cell lung cancerPGx
FDA-DeviceExternal Web Site Icon (2013)
EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations)/erlotiniblocally advanced or metastatic non-small-cell lung cancerPGx
FDA-DeviceExternal Web Site Icon (2013)
ALK gene rearrangement/crizotinibnon-small cell lung cancerPGx
FDA-DeviceExternal Web Site Icon (2013)
Cancer—Melanoma
BRAF V600E/K /trametinibunresectable or metastatic melanomaPGx
FDA-DeviceExternal Web Site Icon (2013)
BRAF V600E/dabrafenibunresectable or metastatic melanomaPGx
FDA-DeviceExternal Web Site Icon (2013)
BRAFV600E/vemurafenibunresectable or metastatic melanomaPGx
NICEExternal Web Site Icon (2012)
FDA-DeviceExternal Web Site Icon (2013)
Cardiovascular disease
DNA testing and LDL-C concentration measurementfamilial hypercholesterolemiacascade testing of relatives of people diagnosed with FHNICEExternal Web Site Icon (2008)
family history of cardiovascular disease before age 50 years in male relatives and age 60 years in female relativescholesterol screeningrisk predictionUSPSTFExternal Web Site Icon  (2008)
Infectious disease
HLA-B*5701/abacavirHIVPGx
CPICExternal Web Site Icon (2014)
CCR5-tropic HIV-1 /maravirocHIVPGx
Other
CFTR (G551D)/ivacaftorcystic fibrosisPGxFDA-PGx Drug InformationExternal Web Site Icon (2012)
HLA-B*1502/carbamazepineepilepsy, trigeminal neuralgia; pretreatment screening for those with ancestry in populations  genetically at-risk for certain serious dermatologic reactionsPGx, pretreatment screening for those with ancestry in populations  genetically at-risk for certain serious dermatologic reactionsFDA-PGx Drug InformationExternal Web Site Icon (2013)
CYP2D6/pimozideTourette’s disorderPGx-doseFDA-PGx Drug InformationExternal Web Site Icon (2011)
CYP2D6/tetrabenazinechorea associated with Huntington’s diseasePGx-doseFDA-PGx Drug InformationExternal Web Site Icon (2011)
G6PD/pegloticasechronic gout in adults refractory to conventional therapyPGx, pretreatment screening in patients at higher risk for G6PD deficiency (e.g., African or Mediterranean ancestry)FDA-PGx Drug InformationExternal Web Site Icon (2012)
Parental history of hip fracture
osteoporosis screening in womenrisk predictionUSPSTFExternal Web Site Icon (2011)
family health history, especially siblings, with hereditary hemochromatosishereditary hemochromatosis
risk prediction; counseling for genetic testing among asymptomatic people
USPSTFExternal Web Site Icon (2006)
newborn screening panel31 core conditionsscreeningSACHDNCExternal 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.
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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