Most cases of colorectal
cancer are not hereditary.

Colorectal cancer is the 3rd most commonly diagnosed cancer in the US, yet 1 in 3 adults are not receiving the appropriate colorectal cancer screening for their age. In addition, rates of colorectal cancer among 20-49-year olds is steadily increasing. Identifying patients who are most at risk for colorectal cancer can lead to enhanced screening protocols and better outcomes.

Most individuals diagnosed with colorectal cancer do not have a significant family history of the disease. GeneType for Colorectal Cancer evaluates the genomic risk of developing colorectal cancer for men and women aged 30 years or older who do not have a known pathogenic gene variant.

Polygenic risk identifies
patients at risk of disease.

In sporadic colorectal cancer, no single gene mutation is causal of disease. Rather, common DNA variations, called single nucleotide polymorphisms (SNPs), each contribute a small but measurable risk of developing disease. GeneType for Colorectal Cancer analyzes your patient’s DNA for 40+ SNPs that have been clinically validated in their association with colorectal cancer. By combining the effects of all of these SNPs into a single polygenic risk score (PRS), GeneType for Colorectal Cancer provides a superior risk stratification over standard risk assessments that incorporate only clinical factors.

Your patient’s personalized risk assessment.

The comprehensive risk stratification will help you understand the likelihood your patient will develop sporadic colorectal cancer over a five-year period, a ten-year period, or in a lifetime.

Average Risk

A colorectal health plan may include a colonoscopy, FOBT, FIT-DNA, or other routine screening procedure at a recommended interval.

View sample report

Above Average Risk

A colorectal health plan may include increased screening frequency, and a combination of screening methods. Risk reducing medication may be appropriate for some patients.

View sample report

Colorectal cancer is a multifactorial disease.

Many risk factors, including polygenic risk, family history, age and other clinical factors affect your patient’s risk for developing sporadic colorectal cancer. GeneType for Colorectal Cancer incorporates all of these risk factors to provide you with a truly personalized risk assessment for your patient.

The GeneType for Colorectal Cancer risk assessment model

Standard risk assessment models calculate a patient’s risk for colorectal cancer based on clinical factors alone. GeneType for Colorectal Cancer is a next generation risk assessment that further stratifies risk with the addition of a polygenic risk score.

Polygenic Risk

We analyze your patient’s DNA for 40+ single nucleotide polymorphisms (SNPs) that have been clinically validated for their association with colorectal cancer. In sporadic cancer, no single gene mutation is causal of disease. Rather, many individual SNPs contribute a small, but measurable risk of developing disease. The risks associated with each of the SNPs in the test are combined into a single polygenic risk score (PRS) for your patient.

Family History

Although 70% percent of people diagnosed with colorectal cancer do not have a significant family history of the disease, family history is still an important part of a sporadic colorectal cancer risk assessment. GeneType for Colorectal Cancer incorporates first degree relatives with colorectal cancer into your patient’s risk score.

Age

GeneType for Colorectal Cancer is clinically validated for men and women 30 years of age or older.

Ethnicity

GeneType for Colorectal Cancer is only validated for individuals of Caucasian descent. Currently, we cannot provide testing for other ethnicities. We will provide updates as we continuously improve our test and add fully validated models for additional ethnicities.

Additional Risk Factors

The following colorectal cancer risk factors are not included in GeneType for Colorectal Cancer, but are worth discussing with your patient:

  • High BMI
  • Sedentary behavior
  • Diet that is high in fat, red meat and processed foods
  • Smoking
  • Consumption of more than one alcoholic beverage per day
  • Type 2 diabetes
  • Inflammatory bowel disease
  • Prior history of adenomatous or sessile serrated polyps

GeneType for Colorectal Cancer identifies risk of sporadic colorectal cancer by combining clinical risk factors with an analysis of specific genetic markers to provide a clinically validated risk stratification for men and women 30 years of age or older.

Caucasian men
and women aged 

30 or older

Who is a candidate
for testing?

  • Caucasian men and women who have not been previously diagnosed with colorectal cancer
  • Individuals who are 30 years of age or older
  • Individuals who do not meet diagnostic criteria for a rare hereditary form of colorectal cancer or who carry a pathogenic germline variant in a colorectal cancer susceptibility gene*
* GeneType for Colorectal Cancer is not appropriate for patients who have a clinical diagnosis of Hereditary Non-Polyposis Colorectal Cancer (HNPCC, also called Lynch syndrome) or Familial Adenomatous Polyposis (FAP), or have a pathogenic mutation in EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2 or APC.

Personalized screening
and prevention.

While guidelines for screening and prevention vary between medical bodies, GeneType for Colorectal Cancer can help you and your patient develop a personalized plan.

For more information on standard colorectal health options for patients, please see the recommendations from ACS, USPSTF, ACG and NCCN.

Disclaimer: GeneType for Colorectal Cancer is not a diagnostic test. Results will not indicate whether your patient has colorectal cancer today or whether the patient definitely will or will not develop colorectal cancer in the future.

Everything you need is in the box.

GeneType for Colorectal Cancer is easy to integrate into a routine consultation.Your patient may initiate the process by asking us to forward a test kit to you.

The test is conducted at our CLIA certified laboratoryand results are delivered to you for discussion with your patient.

  • 1.
    Complete the Test Requisition
    Form and ask your patient to
    sign the consent form for your records.
  • 2.
    Swab your patient’s
    cheek and label
    the sample.
  • 3.
    Enclose the sample, along
    with the Test Requisition
    Form, in the pre-paid
    envelope provided and
    mail it to GeneType.

Billing

GeneType for Colorectal Cancer is a patient self-pay test. A credit card authorization form will be included in the test kit that list they payment options.

If you would like to
keep GeneType test
kits on hand at your
practice, please contact
our support team

When to Rescreen

Risk assessment scores are dynamic over time. While your patient’s polygenic risk score will not change (until more disease-associated SNPs are discovered), some risk factors will change. Your patient’s age, for example, will always alter his/her risk score to some degree.

If your patient experiences a significant change in any of his/her risk factors, or if he or she has new family history information, we suggest a reassessment of your patient’s absolute risk.

You can also consider re-evaluating your patient every five years to ensure that he/she is receiving the optimal screening and prevention care. We have a program designed for re-evaluation of patient risk scores. Please contact us at support@genetype.com for more information.

Our Science.

 

The bottom line.

Our risk assessment model improves on current clinical models by streamlining the test to accommodate clinical practice without losing discriminatory power. GeneType for Colorectal Cancer does this by integrating the most impactful colorectal cancer risk factors: polygenic risk, age, ethnicity and family history

The history behind Polygenic Risk

Polygenic risk was enabled by large data generated in genome-wide association studies (GWAS). Large datasets comparing individuals with colorectal cancer to those without colorectal cancer have allowed for the isolation of otherwise common DNA markers (single nucleotide polymorphisms, SNPs) that show statistically significant association within the case/control datasets. A list of relevant peer-reviewed publications can be found below.

Improving on clinical risk assessment models

Colorectal cancer risk assessment models incorporate many different clinical risk factors including a patient’s age, ethnicity, BMI, eating habits and activity level. Some of these factors are easy to assess, but some may be biased due to patient response. Incorporating PRS into a risk assessment model in place of some clinical factors removes the uncertainty of clinical responses, without losing discriminatory power. Our goal as a research community is to continuously improve upon the accuracy of these risk assessment models. A list of relevant peer-reviewed publications can be found below.

Provider Resource Library.

GeneType for Colorectal Cancer Posters/Publications/Whitepapers
PRS Publications
  • Le Marchand L: Genome-wide association studies and colorectal cancer. Surg Oncol Clin N Am 18:663-668, 2009
  • Jenkins MA, Makalic E, Dowty JG, et al: Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening. Future Oncol 12:503-513, 2016
  • Wang H, Schmit SL, Haiman CA, et al: Novel colon cancer susceptibility variants identified from a genome-wide association study in african americans. Int J Cancer 140:2728-2733, 2017
  • Win AK, Jenkins MA, Dowty JG, et al: Prevalence and penetrance of major genes and polygenes for colorectal cancer. Cancer Epidemiol Biomarkers Prev 26:404-412, 2017
  • Jenkins MA, Win AK, Dowty JG, et al: Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history. bioRxiv:267666, 2018
  • Huyghe JR, Bien SA, Harrison TA, et al: Discovery of common and rare genetic risk variants for colorectal cancer. Nat Genet 51:76-87, 2019
  • Schmit SL, Edlund CK, Schumacher FR, et al: Novel common genetic susceptibility loci for colorectal cancer. J Natl Cancer Inst 111:146-157, 2019
  • Weigl K, Hsu L, Knebel P, et al: Head-to-Head Comparison of Family History of Colorectal Cancer and a Genetic Risk Score for Colorectal Cancer Risk Stratification. Clin Transl Gastroenterol. 2019 Dec;10(12):e00106.
  • Archambault AN, Su YR, Jeon J, et al. Cumulative Burden of Colorectal Cancer-Associated Genetic Variants is More Strongly Associated With Early-onset vs Late-onset Cancer. Gastroenterology. 2019 Dec 19. pii: S0016-5085(19)41937-9. doi: 10.1053/j.gastro.2019.12.012.
Colorectal Cancer Screening and Prevention Publications
  • Hull MA, Sandell AC, Montgomery AA, et al: A randomized controlled trial of eicosapentaenoic acid and/or aspirin for colorectal adenoma prevention during colonoscopic surveillance in the NHS bowel cancer screening programme (the seAFOod polyp prevention trial): Study protocol for a randomized controlled trial. Trials 14:237-6215-14-237, 2013
  • Issa IA, Noureddine M: Colorectal cancer screening: An updated review of the available options. World J Gastroenterol 23:5086-5096, 2017
  • Dekker E, Rex DK: Advances in CRC prevention: Screening and surveillance. Gastroenterology 154:1970-1984, 2018 • Hull MA, Sprange K, Hepburn T, et al: Eicosapentaenoic acid and aspirin, alone and in combination, for the prevention of colorectal adenomas (seAFOod polyp prevention trial): A multicentre, randomised, double-blind, placebo-controlled, 2 x 2 factorial trial. Lancet 392:2583-2594, 2018
  • Abdel-Rahman O, Cheung WY: Population-based assessment of the performance of sigmoidoscopy in the detection of colorectal cancer: Implications for future screening recommendations. J Gastrointest Oncol 10:354-356, 2019
  • Serrano D, Bonanni B, Brown K: Therapeutic cancer prevention: Achievements and ongoing challenges – a focus on breast and colorectal cancer. Mol Oncol 13:579-590, 2019