Genetic Testing

Genetic Testing

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 History Disorder/Indication Use* Synthesized Evidence Sources
Cancer—Breast/Ovarian
family history of breast/ovarian or other types of BRCA-related cancer hereditary breast and ovarian cancer in women risk prediction for referral for BRCA genetic counseling USPSTFExternal Web Site Icon (2013)

NCCN Guideline Adobe PDF file [PDF 836.97 KB]External Web Site Icon(2013)

NCCN Task ForceExternal Web Site Icon (2011)

first-degree family history of breast cancer chemoprevention of breast cancer risk prediction USPSTFExternal Web Site Icon (2013)
family history of known breast/ovarian cancer with deleterious BRCA mutation hereditary breast and ovarian cancer in women risk prediction; referral to counseling for BRCA genetic testing USPSTFExternal Web Site Icon (2013)
HER2/trastuzumab invasive breast cancer PGx NICE Adobe PDF file [PDF 2.00 MB]External Web Site Icon (2009)

ASCOExternal Web Site Icon (2007)

FDA-DeviceExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon (2013)

HER2/pertuzumab invasive breast cancer PGx FDA-DeviceExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon (2013)

HER2/ado-trastuzumab emtansine metastatic breast cancer PGx FDA-PGx Drug InformationExternal Web Site Icon (2013)
HER2/everolimus advanced HR+ HER2- breast cancer PGx FDA-PGx Drug InformationExternal Web Site Icon (2013)
HER2/lapatinib (in combination with capecitabine or letrozole) advanced or metastatic breast cancer PGx FDA-PGx Drug InformationExternal Web Site Icon (2013)
HER2 invasive breast cancer PGx ASCO/CAPExternal Web Site Icon (2007)

NICE Adobe PDF file [PDF 178.88 KB]External Web Site Icon (2009)

ER /fulvestrant metastatic breast cancer PGx FDA-PGx Drug InformationExternal Web Site Icon (2012)
ER/exemestane ER+ early breast cancer PGx FDA-PGx Drug InformationExternal Web Site Icon (2013)

NICE Adobe PDF file [PDF 178.88 KB]External Web Site Icon (2009)

ER/anastrozole or letrozole ER+ early invasive breast cancer PGx NICE Adobe PDF file [PDF 178.88 KB]External Web Site Icon (2009)

FDA-PGx Drug Information [anastrozole]External Web Site Icon (2013)

FDA-PGx Drug Information [letrozole]External Web Site Icon (2011)

ER and PgR invasive breast cancer, breast cancer recurrences PGx ASCO/CAPExternal Web Site Icon (2010)

NCCN Task ForceExternal Web Site Icon (2011)

Oncotype DX® adjuvant chemotherapy ER+/LN-/HER2- breast cancer, intermediate risk of recurrence prognostic; guiding decision-making: adjuvant chemotherapy NICEExternal Web Site Icon (2013)

NCCN Task ForceExternal Web Site Icon (2011)

Cancer—Colorectal
Testing for Lynch syndrome newly diagnosed colorectal cancer screening, cascade testing of relatives EGAPP (2009)
Testing for Lynch syndrome known Lynch syndrome in family diagnostic, screening EGAPP (2009)

NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment – Colorectal  (2014)

KRAS/cetuximab, panitumumab metastatic colorectal cancer PGx EGAPP Adobe PDF file [PDF 456.16 KB]External Web Site Icon (2013)

NCCNExternal Web Site Icon (2011)

ASCOExternal Web Site Icon (2009)

FDA-DeviceExternal Web Site Icon

FDA-PGx Drug InformationExternal Web Site Icon (2013)

Carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5 or CEA) invasive colorectal cancer prognostic ASCO/CAPExternal Web Site Icon (2006)

NCCN Adobe PDF file [PDF 1.27 MB]External Web Site Icon (2013)

NCCN Task ForceExternal Web Site Icon (2011)

Cancer—Gastric
HER2/trastuzumab gastric or gastroesophageal junction adenocarcinoma PGx FDA-DeviceExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon (2013)

c-Kit protein (CD 117)/imatinib gastrointestinal stromal tumors PGx FDA-DeviceExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon (2013)

Cancer—Leukemia/lymphoma
Philadelphia chromosome, T315I mutation/dasatinib chronic myeloid leukemia, acute lymphoblastic leukemia PGx; diagnostic FDA-PGx Drug InformationExternal Web Site Icon (2013)
Philadelphia chromosome/imatinib chronic myeloid leukemia, acute lymphoblastic leukemia PGx; diagnostic FDA-PGx Drug InformationExternal Web Site Icon (2013)
Philadelphia chromosome/bosutinib chronic myelogenous leukemia PGx; diagnostic FDA-PGx Drug InformationExternal Web Site Icon (2013)
Philadelphia chromosome/nilotinib chronic myeloid leukemia PGx; diagnostic FDA-PGx Drug InformationExternal Web Site Icon (2013)
PML/RARα/tretinoin acute promyelocytic leukemia PGx FDA-PGx Drug InformationExternal Web Site Icon (2004)
PML/RARα/arsenic trioxide acute promyelocytic leukemia PGx FDA-PGx Drug InformationExternal Web Site Icon (2010)
PDGFRB/imatinib myelodysplastic/ myeloproliferative diseases PGx FDA-PGx Drug InformationExternal Web Site Icon (2013)
CD25/denileukin diftitox persistent or recurrent cutaneous T-cell  lymphoma PGx FDA-PGx Drug InformationExternal Web Site Icon (2011)
CD20/tositumomab Non-Hodgkin’s lymphoma PGx FDA-PGx Drug InformationExternal Web Site Icon (2012)

Alberta Health Services Adobe PDF file [PDF 792.34 KB]External Web Site Icon (2013)

G6PD/rasburicase leukemia, lymphoma, solid tumor malignancies PGx, pretreatment screening in patients at higher risk for G6PD deficiency (e.g., African or Mediterranean ancestry) FDA-PGx Drug InformationExternal Web Site Icon (2009)

CPICExternal Web Site Icon (2014)

Chromosome 5q deletion/lenalidomide transfusion-dependent anemia due to low-or intermediate-1-risk myelodysplastic syndromes associated with a deletion 5q PGx FDA-PGx Drug InformationExternal Web Site Icon (2013)
Cancer—Lung
EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations)/afatinib metastatic non-small-cell lung cancer PGx FDA-DeviceExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon (2013)

EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations)/erlotinib locally advanced or metastatic non-small-cell lung cancer PGx NICE Adobe PDF file [PDF 189.11 KB]External Web Site Icon (2012)

NCCN Task ForceExternal Web Site Icon (2011)

FDA-DeviceExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon (2013)

ALK gene rearrangement/crizotinib non-small cell lung cancer PGx FDA-DeviceExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon (2013)

NCCN Task ForceExternal Web Site Icon (2011)

NCCN Guideline Adobe PDF file [PDF 1.61 MB]External Web Site Icon(2013)

Cancer—Melanoma
BRAF V600E/K /trametinib unresectable or metastatic melanoma PGx FDA-PGx Drug InformationExternal Web Site Icon (2013)

FDA-DeviceExternal Web Site Icon (2013)

BRAF V600E/dabrafenib unresectable or metastatic melanoma PGx FDA-PGx Drug InformationExternal Web Site Icon (2013)

FDA-DeviceExternal Web Site Icon (2013)

BRAFV600E/vemurafenib unresectable or metastatic melanoma PGx NICEExternal Web Site Icon (2012)

FDA-PGx Drug InformationExternal Web Site Icon (2013)

FDA-DeviceExternal Web Site Icon (2013)

Cardiovascular disease
DNA testing and LDL-C concentration measurement familial hypercholesterolemia cascade testing of relatives of people diagnosed with FH NICEExternal Web Site Icon (2008)
family history of cardiovascular disease before age 50 years in male relatives and age 60 years in female relatives cholesterol screening risk prediction USPSTFExternal Web Site Icon  (2008)
Infectious disease
HLA-B*5701/abacavir HIV PGx DHHS Advisory Committee Adobe PDF file [PDF 1.46 MB]External Web Site Icon (2013)

CPICExternal Web Site Icon (2014)

FDA-PGx Drug InformationExternal Web Site Icon (2013)

CCR5-tropic HIV-1 /maraviroc HIV PGx FDA-PGx Drug InformationExternal Web Site Icon (2013)

HHS Panel Adobe PDF file [PDF 1.46 MB]External Web Site Icon(2013)

Other
CFTR (G551D)/ivacaftor cystic fibrosis PGx FDA-PGx Drug InformationExternal Web Site Icon (2012)
HLA-B*1502/carbamazepine epilepsy, trigeminal neuralgia; pretreatment screening for those with ancestry in populations  genetically at-risk for certain serious dermatologic reactions PGx, pretreatment screening for those with ancestry in populations  genetically at-risk for certain serious dermatologic reactions FDA-PGx Drug InformationExternal Web Site Icon (2013)
CYP2D6/pimozide Tourette’s disorder PGx-dose FDA-PGx Drug InformationExternal Web Site Icon (2011)
CYP2D6/tetrabenazine chorea associated with Huntington’s disease PGx-dose FDA-PGx Drug InformationExternal Web Site Icon (2011)
G6PD/pegloticase chronic gout in adults refractory to conventional therapy PGx, 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 women risk prediction USPSTFExternal Web Site Icon (2011)
family history, especially siblings, with hereditary hemochromatosis hereditary hemochromatosis risk prediction; counseling for genetic testing among asymptomatic people USPSTFExternal Web Site Icon (2006)
newborn screening panel 31 core conditions screening SACHDNCExternal 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)

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 History Disorder/Indication Use* Synthesized Evidence Sources
Cancer—Breast
gene expression profiles breast cancer Recurrence:  risk prediction; prognostic EGAPPExternal Web Site Icon (2009)
ER-alpha and PgR status/ER-alpha (ESR1)-modulating agents invasive breast cancer and breast cancer PGx – recurrence risk prediction; prognostic NCCN Task ForceExternal Web Site Icon (2011)

NCCN Task ForceExternal Web Site Icon (2009)

ASCO/CAPExternal Web Site Icon (2010)

CYP2D6/tamoxifen risk for primary breast cancer or breast cancer recurrence PGx – informing therapeutic choice BCBSA TECExternal Web Site Icon (2014)
Cancer—Colorectal
first-degree family history of colorectal cancer at a younger age or multiple affected first-degree relatives colorectal cancer screening risk prediction USPSTFExternal Web Site Icon (2008)
BRAF c.1799T>A (p.V600E) colon cancer prognostic NCCN Task ForceExternal Web Site Icon (2011)

NCCN Guideline Adobe PDF file [PDF 1.30 MB]External Web Site Icon (2013)

BRAF V600E/cetuximab, panitumumab metastatic colorectal cancer PGx EGAPP Adobe PDF file [PDF 456.16 KB]External Web Site Icon(2013)

NCCN Task ForceExternal Web Site Icon (2011)

UGT1A1/irinotecan Metastatic carcinoma of the colon or rectum PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)

EGAPPExternal Web Site Icon (2009)

testing for Lynch syndrome patients meeting revised Bethesda guidelines or Amsterdam criteria diagnostic, screening NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment – Colorectal  (2014)
testing for Lynch syndrome endometrial cancer in women under 50 years of age diagnostic, screening NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment – Colorectal  (2014)
consideration of testing for Lynch syndrome people with 5% or higher risk of Lynch syndrome based on any prediction model diagnostic, screening NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment – Colorectal  (2014)
testing for Lynch syndrome colorectal cancer diagnosed under 70 years of age, and those 70 and older who meet Bethesda guidelines diagnostic, screening NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment – Colorectal  (2014)
testing for Lynch syndrome colorectal cancer in patients younger than 50 years diagnostic, screening NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment – Colorectal  (2014)
testing for Lynch syndrome synchronous or metachronous colorectal or other Lynch syndrome-related tumors, at any age diagnostic, screening NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment – Colorectal  (2014)
testing for Lynch syndrome MSI-H histology in colorectal cancer patients younger than 60 years diagnostic, screening NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment – Colorectal  (2014)
testing for Lynch syndrome colorectal cancer in patient with relative (one or more first-degree) with Lynch syndrome related cancer that was diagnosed under age 50 years diagnostic, screening NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment – Colorectal  (2014)
testing for Lynch syndrome colorectal cancer in patient with relatives (two or more first- or second-degree) with Lynch syndrome related cancer at any age diagnostic, screening NCCNExternal Web Site Icon: Genetic/Familial High-Risk Assessment – Colorectal  (2014)
Cancer—Leukemia
FLT3-ITD acute myeloid leukemia predictive; prognostic NCCN Task ForceExternal Web Site Icon (2011)

NCCN Guideline Adobe PDF file [PDF 852.75 KB]External Web Site Icon (2013)

CEBPA mutation acute myeloid leukemia predictive; prognostic NCCN Task ForceExternal Web Site Icon (2011)

NCCN Guideline Adobe PDF file [PDF 852.78 KB]External Web Site Icon (2013)

NPM1 mutation acute myeloid leukemia predictive; prognostic NCCN Task ForceExternal Web Site Icon (2011)

NCCN Guideline Adobe PDF file [PDF 852.80 KB]External Web Site Icon (2013)

KIT mutation acute myeloid leukemia predictive; prognostic NCCN Task ForceExternal Web Site Icon (2011)

NCCN Guideline Adobe PDF file [PDF 852.70 KB]External Web Site Icon (2013)

Philadelphia chromosome/busulfan chronic myelogenous leukemia PGx FDA-PGx Drug InformationExternal Web Site Icon(2003)
UGT1A1*28homozygotes/nilotinib Philadelphia chromosome positive chronic myeloid leukemia PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
FIP1L1-PDGFRα kinase/imatinib hypereosinophilic syndrome and/or chronic eosinophilic leukemia PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2013)
TPMT/thiopurines (mercaptopurine) acute lymphatic leukemia PGx-dose CPICExternal Web Site Icon (2011)

FDA-PGx Drug InformationExternal Web Site Icon(2011)

TPMT/thiopurines (thioguanine) acute, non-lymphocytic leukemias PGx-dose CPICExternal Web Site Icon (2011)

FDA-PGx Drug InformationExternal Web Site Icon(2004)

Cancer—Lung
KRAS mutations [except c38G>A]/anti-EGFR therapy non–small cell lung cancer predictive; prognostic NCCN Task ForceExternal Web Site Icon (2011)
Cancer—Melanoma
G6PD/dabrafenib unresectable or metastatic melanoma PGx FDA-PGx Drug InformationExternal Web Site Icon(2014)
family history of skin cancer skin cancer screening in adults risk prediction USPSTFExternal Web Site Icon (2009)
Cancer—Other
DPD testing/5-FU (capecitabine) Dukes’ C colon cancer, metastatic colorectal cancer, metastatic breast cancer PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
family history of bladder cancer bladder cancer screening risk prediction USPSTFExternal Web Site Icon (2011)
c-Kit D816V/imatinib aggressive systemic mastocytosis PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
TPMT/cisplatin metastatic testicular tumors, metastatic ovarian tumors, advanced bladder cancer PGx FDA-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 prediction USPSTFExternal Web Site Icon (2007)
first-degree family history of abdominal aortic aneurysm requiring surgical repair abdominal aortic aneurysm screening risk prediction USPSTFExternal Web Site Icon (2005)
SLCO1B1/simvastatin dyslipidemia PGx-dose CPICExternal Web Site Icon (2012)
CYP2C9, VKORC1/warfarin venous thrombosis, pulmonary embolism, thromboembolic complications associated with atrial fibrillation and/or cardiac valve replacement, myocardial infarction PGx-dose CMS CEDExternal Web Site Icon (2009)

ACMGExternal Web Site Icon (2008)

FDA-PGx Drug InformationExternal Web Site Icon

CPICExternal Web Site Icon (2011)

CYP2D6/metoprolol hypertension, angina pectoris, heart failure PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6/carvedilol chronic heart failure, left ventricular dysfunction following myocardial infarction, hypertension PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6/carvedilol chronic heart failure, left ventricular dysfunction following myocardial infarction, hypertension PGx FDA-PGx Drug InformationExternal Web Site Icon(2011)
CYP2D6/propafenone atrial fibrillation PGx FDA-PGx Drug InformationExternal Web Site Icon(2011)
CYP2C19/clopidogrel non-ST-segment elevation acute coronary syndrome, ST-elevation myocardial infarction, myocardial
infarction, stroke, peripheral arterial disease
PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)

CPICExternal Web Site Icon (2013)

AHRQExternal Web Site Icon (2013)

CYP2C19/prasugrel acute coronary syndrome managed with percutaneous coronary intervention PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19/tricagrelor acute coronary syndrome PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
LDLR/pravastatin hypercholesterolemia PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)
F5, SERPINC1/eltrombopag thrombocytopenia PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)
Endocrine disorders
G6PD/chlorpropamide glycemic control, type 2 diabetes in adults PGx FDA-PGx Drug InformationExternal Web Site Icon(2011)
G6PD/glimepiride glycemic control, type 2 diabetes in adults PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/glipizide glycemic control, type 2 diabetes in adults PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/glyburide glycemic control, type 2 diabetes in adults PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
Gastroenterology
CYP2C19/pantoprazole gastroesophageal reflux disease, pathological hypersecretory conditions PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19/omeprazole duodenal ulcer, gastric ulcer, gastroesophageal reflux disease PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19/esomeprazole gastroesophageal reflux disease, NSAID-associated gastric ulcer, duodenal ulcer recurrence, pathological hypersecretory
conditions
PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2C19/rabeprazole gastroesophageal reflux disease, duodenal ulcers, pathological hypersecretory conditions PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19, CYP1A2/dexlansoprazole erosive esophagitis, heartburn PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
Infectious Disease
G6PD/chloroquine phosphate malaria, extraintestinal amebiasis PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/dapsone (tablet) leprosy PGx FDA-PGx Drug InformationExternal Web Site Icon

DailyMedExternal Web Site Icon (2011)

G6PD/mafenide acetate (for 5% topical solution) bacterial infections PGx FDA-PGx Drug InformationExternal Web Site Icon(1998)
G6PD/nitrofurantoin antibacterial, specific urinary tract infections PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/primaquine vivax malaria, radical cure (prevention of relapse) PGx FDA-PGx Drug InformationExternal Web Site Icon(2008)
G6PD/quinine sulfate uncomplicatedPlasmodium falciparum malaria PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/sulfamethoxazole & trimethoprim bacterial infections PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
IL28B/boceprevir chronic hepatitis C genotype 1 PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
IL28B/telaprevir chronic hepatitis C genotype 1 PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
IL28B/peginterferon alfa-2b chronic hepatitis C PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19/voriconazole invasive aspergillosis, candidemia and disseminated candidiasis, esophageal candidiasis,Scedosporium apiospermum andFusarium spp. infection PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2011)
Neurology
CYP2C19/clobazam seizures associated with Lennox-Gastaut syndrome PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2013)
HLA-B*1502/phenytoin generalized 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 ancestry PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
HLAB*1502/ carbamazepine epilepsy, other seizure disorders, trigeminal neuralgia, bipolar disorder PGx-dose CPICExternal Web Site Icon (2013)
CYP2D6, CYP2C19/diazepam epilepsy PGx FDA-PGx Drug InformationExternal Web Site Icon(2005)
CYP2D6/dextromethorphan and quinidine pseudobulbar affect PGx, PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2010)
Psychiatry
parental history of depression major depressive disorder screening in adolescents risk prediction USPSTFExternal Web Site Icon (2009)
family history of depression depression screening in adults risk prediction USPSTFExternal Web Site Icon (2009)
CYP2D6/amitriptyline depression PGx-dose CPICExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon

CYP2D6/desipramine depression PGx-dose CPICExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon(2012)

CYP2D6/fluoxetine major depressive disorder, obsessive compulsive disorder, bulimia nervosa, panic disorder PGx FDA-PGx Drug InformationExternal Web Site Icon(2009)
CYP2D6/imipramine depression PGx-dose CPICExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon(2012)

CYP2D6/nortriptyline depression PGx-dose CPICExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon(2012)

CYP2D6/trimipramine depression PGx-dose CPICExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon(2012)

CYP2D6/venlafaxine major depressive disorder, social anxiety disorder PGx, PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2C19, CYP2D6/citalopram depression PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6/aripiprazole schizophrenia, bipolar I disorder, major depressive disorder, autistic disorder PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2D6/clozapine schizophrenia, schizoaffective disorder PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2D6/iloperidone schizophrenia PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2D6/risperidone schizophrenia, bipolar I disorder, autistic disorder PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6/atomoxetine attention-deficit/hyperactivity disorder PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2D6/clomipramine obsessive-compulsive disorder PGx-dose CPICExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon(2012)

CYP2D6, CYP2C19/fluvoxamine obsessive compulsive disorder PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6, CYP2C19/doxepin insomnia PGx-dose CPICExternal Web Site Icon (2013)

FDA-PGx Drug InformationExternal Web Site Icon(2010)

CYP2D6/modafinil narcolepsy, obstructive sleep apnea, and shift work disorder PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2010)
Rheumatology
CYP2C19/carisoprodol musculoskeletal conditions PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C9/celecoxib osteoarthritis, rheumatoid arthritis, juvenile rheumatoid arthritis, ankylosing spondylitis, acute pain, primary dysmenorrhea PGx-dose FDA-PGx Drug InformationExternal Web Site Icon(2011)
CYP2C9/flurbiprofen rheumatoid arthritis, osteoarthritis PGx FDA-PGx Drug InformationExternal Web Site Icon(2010)
TPMT/thiopurines (azathioprine) renal homotransplantation, rheumatoid arthritis PGx-dose CPICExternal Web Site Icon (2011)

FDA-PGx Drug InformationExternal Web Site Icon(2011)

Other
family history of developmental dysplasia of the hip developmental dysplasia of the hip screening in infants risk prediction USPSTFExternal Web Site Icon (2006)
family history of diabetes gestational diabetes screening risk prediction USPSTFExternal Web Site Icon (2008)
family history of neonatal jaundice Hyberbilirubinemia screening in infants; prevention of chronic bilirubin encephalopathy risk prediction USPSTFExternal Web Site Icon (2009)
family history of age-related macular degeneration visual acuity screening in older adults risk prediction USPSTFExternal Web Site Icon (2009)
family history of chronic kidney disease chronic kidney disease screening risk prediction USPSTFExternal Web Site Icon (2012)
family history for common diseases common diseases risk prediction NIH State of the ScienceExternal Web Site Icon (2009)
CYP2D6/tolterodine overactive bladder PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)
HPRT1/mycophenolic acid organ rejection PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2C19/drospirenone and ethinyl estradiol pregnancy prevention, premenstrual dysphoric disorder, moderate acne PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)
UGT1A1/indacaterol chronic obstructive pulmonary disease, including chronic bronchitis and/or emphysema PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)
CYP2D6/codeine pain PGx-dose CPICExternal Web Site Icon (2012)

FDA-PGx Drug InformationExternal Web Site Icon(2013)

CYP2D6/tramadol and acetaminophen acute pain PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
CYP2D6/cevimeline dry mouth in patients with Sjögren’s Syndrome PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
DPD/fluorouracil cream multiple
actinic or solar keratoses
PGx FDA-PGx Drug InformationExternal Web Site Icon(2003)
G6PD/dapsone (gel) acne vulgaris PGx FDA-PGx Drug InformationExternal Web Site Icon(2009)
G6PD/dapsone (tablet) dermatitis herpetiformis PGx FDA-PGx Drug InformationExternal Web Site Icon

DailyMedExternal 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 adults PGx FDA-PGx Drug InformationExternal Web Site Icon(2013)
G6PD/sodium nitrite life-threatening, acute cyanide poisoning PGx FDA-PGx Drug InformationExternal Web Site Icon(2012)
G6PD/succimer lead poisoning, pediatric PGx FDA-PGx Drug InformationExternal Web Site Icon(2007)
next generation sequencing/whole genome sequence various rare familial diseases diagnostic BCBS 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 panels diagnosis, management, carrier testing NIH 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)

Tier 3/Red category: represents genomic and family health history applications either have synthesized evidence culminating in recommendations against use (or discouraging use), OR no relevant synthesized evidence was identified. Such applications are not ready for routine practice, but may be considered in clinical and population research.
Gene, Gene/Drug, Test, or Family History Disorder/Indication Use* Synthesized Evidence Sources
HFE hereditary hemochromatosis population screening USPSTFExternal Web Site Icon (2006)
routine BRCA genetic counseling, routine BRCA testing Hereditary breast/ovarian cancer, in women whose family history is not associated with an increased risk of BRCA mutations population screening USPSTFExternal Web Site Icon (2013)
panels for various genetic risk factors common diseases risk assessment, disease prevention Multiple sources, for example:EGAPPExternal Web Site Icon (2010)
next generation sequencing/whole genome sequence various common diseases risk prediction Rapidly evolving landscape; gaps in knowledge exist for analytic validity, clinical validity and clinical utility
SNP panels type 2 diabetes risk prediction EGAPP Adobe PDF file [PDF 242.05 KB]External Web Site Icon (2013)
TCF7L2 genotyping type 2 diabetes risk prediction EGAPP Adobe PDF file [PDF 242.05 KB]External Web Site Icon (2013)
NRAS or PIK3CA mutation analysis and/or testing for loss of PTEN or AKT protein expression/anti-EGFR therapy metastatic colorectal cancer PGx EGAPP Adobe PDF file [PDF 456.16 KB]External Web Site Icon (2013)

Systematic reviewExternal Web Site Icon (2011)

CYP450 testing/SSRIs non-psychotic depression PGx, PGx-dose EGAPPExternal Web Site Icon (2007)
tumor gene expression analysis (Prolaris®, Oncotype Dx® Prostate prostate cancer prognostic, management BCBS TECExternal Web Site Icon (2014)
emerging genomic tests in the CDC’sGAPP FinderExternal Web Site Icon of theGAPP Knowledge BaseExternal Web Site Icon various disorders various uses Almost all of these applications (except when listed above) have insufficient information on analytic or clinical validity, or clinical utility

*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)

Connie Dello Buono

Prevent vascular disease, manage inflammation, get GYV health caps to boost ATP cells performance and speedy repair of your body, email connie to get the caps and join in spreading the benefits with extra income for you at motherhealth@gmail.com and text 408-854-1883

Leave a Reply

This site uses Akismet to reduce spam. Learn how your comment data is processed.