Table 1: National guidelines for cancer genetic tests included in the 2010 Oregon Health Care Provider Survey.

TestDescriptionRecommendation

Population-based screening for specific cancers

OncoVueTests for single nucleotide polymorphisms associated with increased breast cancer risk.No recommendations from EGAPP, NCCN, or USPSTF.

Fecal DNATest designed to screen for colorectal cancer, has better sensitivity than the traditional fecal occult blood test (FOBT), and may be more acceptable to the public than colonoscopy.(i) NCCN considers use of fecal (stool) DNA testing to be an option, but does not recommend it as a “first-line” screening tool [7].
(ii) USPSTF found insufficient evidence to recommend use of fecal DNA testing as a screening method for colorectal cancer [14].

Further assessing risk for developing specific cancers in previously identified high-risk populations

BRCATests designed to detect specific BRCA mutations associated with increased risk for breast and ovarian cancers. Providers use results to guide breast and related cancer prevention efforts.(i) NCCN and USPSTF recommend BRCA testing for patients at increased risk of developing breast and/or ovarian cancer due to family history [8, 14].

MMRTesting for Lynch syndrome (previously known as HNPCC) includes testing of one or all of the most common mismatch repair genes (MMR)—MCH1, MSH2, MSH6, and PMS2. Providers use results to guide cancer prevention efforts.(i) EGAPP recommends genetic testing for Lynch syndrome in individuals with newly diagnosed colorectal cancer to reduce morbidity and mortality in relatives. They found insufficient evidence to recommend a specific testing strategy [11].
(ii) NCCN recommends testing for Lynch syndrome for individuals who meet certain criteria. The testing strategy will depend on whether there is a known MMR mutation in the family [7].

Guiding cancer treatment decisions in those already diagnosedwith cancer

BRCATest designed to detect specific BRCA mutations associated with increased risk of aggressive, recurrent cancers. Providers use results to guide treatment decisions for people with breast, ovarian, and related cancers.(i) NCCN recommends BRCA testing when the patient meets certain personal and family breast and/or ovarian cancer history criteria [8].

Tumor gene expression profilesThree tests, Oncotype DX, MammaPrint, and H/I ratio, are currently being marketed to help women with breast cancer and their providers make treatment decisions and estimate risk of cancer recurrence.(i) EGAPP found insufficient evidence to advise for or against the use of tumor gene expression profiles in women with breast cancer [12].

CYP2D6Test designed to help determine whether tamoxifen is likely to be a useful therapy in those with estrogen receptor-positive breast cancer.(i) No recommendations from EGAPP, NCCN, or USPSTF.

MMRTesting for Lynch Syndrome (previously known as HNPCC) includes testing of one or all of the most common mismatch repair genes (MMR)—MCH1, MSH2, MSH6 and PMS2. Providers use the results to guide cancer management efforts.(i) EGAPP recommends genetic testing for Lynch syndrome in individuals with newly diagnosed colorectal cancer. They found insufficient evidence to recommend a specific testing strategy [11].
(ii) NCCN recommends testing for Lynch syndrome for individuals who meet certain criteriah.

UGT1A1Test designed to help identify colorectal cancer patients who are at increased risk for an adverse reaction to irinotecan therapy and allow for changes in management (e.g., drug choice, dosage).(i) EGAPP found insufficient evidence to recommend use of UGT1A1 genotyping in patients with metastatic colorectal cancer treated with irinotecan [10].

KRASTesting for KRAS gene mutations may help identify colorectal cancer patients who may not respond well to EGFR-inhibiting drugs such as panitumumab (Vectibix) and cetuximab (Erbitux).(i) NCCN recommends testing for KRAS tumor gene status in patients with metastatic colorectal cancer before initiating treatment with panitumumab or cetuximab [24].