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Genomic Tests and Family 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 Khoury and updated in accordance with criteria presented by a 2014 paper in Clinical Pharmacology and Therapeutics. 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

USPSTF (2013)

NCCN Guideline [PDF 836.97 KB] (2013)

NCCN Task Force (2011)

first-degree family history of breast cancer chemoprevention of breast cancer risk prediction USPSTF (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 USPSTF (2013)
HER2/trastuzumab invasive breast cancer PGx

NICE [PDF 2.00 MB] (2009)

ASCO (2007)

FDA-Device (2013)

FDA-PGx Drug Information (2013)

HER2/pertuzumab invasive breast cancer PGx

FDA-Device (2013)

FDA-PGx Drug Information (2013)

HER2/ado-trastuzumab emtansine metastatic breast cancer PGx FDA-PGx Drug Information (2013)
HER2/everolimus advanced HR+ HER2- breast cancer PGx FDA-PGx Drug Information (2013)
HER2/lapatinib (in combination with capecitabine or letrozole) advanced or metastatic breast cancer PGx FDA-PGx Drug Information (2013)
HER2 invasive breast cancer PGx

ASCO/CAP (2007)

NICE [PDF 178.88 KB] (2009)

ER /fulvestrant metastatic breast cancer PGx FDA-PGx Drug Information (2012)
ER/exemestane ER+ early breast cancer PGx

FDA-PGx Drug Information (2013)

NICE [PDF 178.88 KB] (2009)

ER/anastrozole or letrozole ER+ early invasive breast cancer PGx

NICE [PDF 178.88 KB] (2009)

FDA-PGx Drug Information [anastrozole] (2013)

FDA-PGx Drug Information [letrozole] (2011)

ER and PgR invasive breast cancer, breast cancer recurrences PGx

ASCO/CAP (2010)

NCCN Task Force (2011)

Oncotype DX® adjuvant chemotherapy ER+/LN-/HER2- breast cancer, intermediate risk of recurrence prognostic; guiding decision-making: adjuvant chemotherapy

NICE (2013)

NCCN Task Force (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)

NCCN: Genetic/Familial High-Risk Assessment - Colorectal  (2014)

KRAS/cetuximab, panitumumab metastatic colorectal cancer PGx

EGAPP [PDF 456.16 KB] (2013)

NCCN (2011)

ASCO (2009)

FDA-Device

FDA-PGx Drug Information (2013)

Carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5 or CEA) invasive colorectal cancer prognostic

ASCO/CAP (2006)

NCCN [PDF 1.27 MB] (2013)

NCCN Task Force (2011)

Cancer—Gastric
HER2/trastuzumab gastric or gastroesophageal junction adenocarcinoma PGx

FDA-Device (2013)

FDA-PGx Drug Information (2013)

c-Kit protein (CD 117)/imatinib gastrointestinal stromal tumors PGx

FDA-Device (2013)

FDA-PGx Drug Information (2013)

Cancer—Leukemia/lymphoma
Philadelphia chromosome, T315I mutation/dasatinib chronic myeloid leukemia, acute lymphoblastic leukemia PGx; diagnostic FDA-PGx Drug Information (2013)
Philadelphia chromosome/imatinib chronic myeloid leukemia, acute lymphoblastic leukemia PGx; diagnostic FDA-PGx Drug Information (2013)
Philadelphia chromosome/bosutinib chronic myelogenous leukemia PGx; diagnostic

FDA-PGx Drug Information (2013)

Philadelphia chromosome/nilotinib chronic myeloid leukemia PGx; diagnostic FDA-PGx Drug Information (2013)
PML/RARα/tretinoin acute promyelocytic leukemia PGx FDA-PGx Drug Information (2004)
PML/RARα/arsenic trioxide acute promyelocytic leukemia PGx FDA-PGx Drug Information (2010)
PDGFRB/imatinib myelodysplastic/ myeloproliferative diseases PGx

FDA-PGx Drug Information (2013)

CD25/denileukin diftitox persistent or recurrent cutaneous T-cell  lymphoma PGx

FDA-PGx Drug Information (2011)

CD20/tositumomab Non-Hodgkin's lymphoma PGx

FDA-PGx Drug Information (2012)

Alberta Health Services [PDF 792.34 KB] (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 Information (2009)

CPIC (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 Information (2013)

Cancer—Lung
EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations)/ afatinib metastatic non-small-cell lung cancer PGx

FDA-Device (2013)

FDA-PGx Drug Information (2013)

EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations) /erlotinib locally advanced or metastatic non-small-cell lung cancer PGx

NICE [PDF 189.11 KB] (2012)

NCCN Task Force (2011)

FDA-Device (2013)

FDA-PGx Drug Information (2013)

ALK gene rearrangement/crizotinib non-small cell lung cancer PGx

FDA-Device (2013)

FDA-PGx Drug Information (2013)

NCCN Task Force (2011)

NCCN Guideline [PDF 1.61 MB] (2013)

Cancer—Melanoma
BRAF V600E/K /trametinib unresectable or metastatic melanoma PGx

FDA-PGx Drug Information (2013)

FDA-Device (2013)

BRAF V600E/dabrafenib unresectable or metastatic melanoma PGx

FDA-PGx Drug Information (2013)

FDA-Device (2013)

BRAF V600E/vemurafenib unresectable or metastatic melanoma PGx

NICE (2012)

FDA-PGx Drug Information (2013)

FDA-Device (2013)

Cardiovascular disease
DNA testing and LDL-C concentration measurement familial hypercholesterolemia cascade testing of relatives of people diagnosed with FH NICE (2008)
family history of cardiovascular disease before age 50 years in male relatives and age 60 years in female relatives cholesterol screening risk prediction USPSTF  (2008)
Infectious disease
HLA-B*5701/abacavir HIV PGx

DHHS Advisory Committee [PDF 1.46 MB] (2013)

CPIC (2014)

FDA-PGx Drug Information (2013)

CCR5-tropic HIV-1 /maraviroc HIV PGx

FDA-PGx Drug Information (2013)

HHS Panel [PDF 1.46 MB] (2013)

Other
CFTR (G551D)/ivacaftor cystic fibrosis PGx FDA-PGx Drug Information (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 Information (2013)
CYP2D6/pimozide Tourette’s disorder PGx-dose FDA-PGx Drug Information (2011)
CYP2D6/tetrabenazine chorea associated with Huntington’s disease PGx-dose FDA-PGx Drug Information (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 Information (2012)
Parental history of hip fracture
osteoporosis screening in women risk prediction USPSTF (2011)
family history, especially siblings, with hereditary hemochromatosis hereditary hemochromatosis

risk prediction; counseling for genetic testing among asymptomatic people

USPSTF (2006)
newborn screening panel 31 core conditions screening SACHDNC (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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