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Genetic factors play an important role in the development of colorectal cancer (CRC). Some people have inherited genetic syndromes that increase their risk for colon cancer. Genetic testing looks for these inherited syndromes along with changes in DNA that are associated with a greater likelihood of developing cancer. 

What is Genetic Testing for CRC?

Genetic testing looks for changes in your DNA that are known to be associated with an increased risk of cancer. Generally, there are two ways that genetic testing may be used: 

  • Before a person develops cancer to determine their level of risk
  • Following a cancer diagnosis to see if genetic changes may have contributed to the cancer

According to the American Cancer Society, genetic tests can help show if members of certain families have inherited a high risk of CRC due to inherited cancer syndromes such as Lynch syndrome (also known as hereditary non-polyposis colorectal cancer, or HNPCC) or familial adenomatous polyposis (FAP).

Who is Considered “High-Risk”?

Those with a family history of CRC may benefit from speaking to their primary care physician, oncologist, or surgeon about the importance of genetic testing to identify if there was a mutated gene that predisposes them to cancer. You may be a good candidate for genetic testing for CRC if you have:

  • Close family members, such as parents, children, or siblings, who have been diagnosed with CRC
  • Many people on one side of your family who’ve been diagnosed with CRC
  • A personal or family history of CRC diagnosis at a young age
  • A personal or family history of an inherited genetic syndrome that increases CRC risk
  • A personal or family history of multiple cancers
  • A strong family history of CRC or other cancers that are associated with an inherited genetic syndrome
  • More than 10 adenomatous polyps found during CRC screening

What Can I Expect With the Procedure?

If your doctor believes that you’re a good candidate for genetic testing, they’ll likely refer you to a genetic counselor. Genetic testing is typically done using a blood sample. However, it may also use a sample of saliva, cheek cells, or skin. This sample will be sent to a specialized lab that will run the test. After a few weeks, your results will be sent over to your doctor or genetic counselor and you’ll be contacted to discuss your test results and next steps.

How Much Does Genetic Testing for Colon Cancer Cost and is it Covered by Insurance?

Genetic testing can be expensive and can cost between $100 to over $2,000, depending on the nature and complexity of the test. Many insurance providers will cover the cost of genetic testing and genetic counseling if it’s considered medically necessary. 

  • Most private health insurers cover genetic counseling and testing with low- or no out-of-pocket costs for people who meet certain personal or family cancer history criteria.
  • Medicare covers genetic testing for people with a cancer diagnosis who meet certain criteria; you must have a cancer diagnosis to qualify for coverage of genetic testing for an inherited mutation.
  • Medicaid programs cover BRCA genetic counseling and testing for qualifying individuals, including those with a known mutation in the family, or specific personal and/or family history of cancer for all but two states: Alabama and Rhode Island.

Nevertheless, always check with your insurance provider to see what’s covered before getting tested. For additional information about insurance coverage, please visit: Paying for Genetic Services.

 

Kitty Chiu is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

As we emerge from the initial waves of COVID-19, patients may have been reluctant to take more time out of their life for a colonoscopy prep, procedure, and recovery. Fortunately, non-invasive stool-based screening tools, such as fecal immunochemical tests (FIT) and multi-target stool DNA (mt-sDNA or Cologuard), are practical options that allow patients to provide a sample in the comfort of their home and could address access and care gap issues as they are less expensive. 

According to a new study presented during the Scientific Forum at the American College of Surgeons Clinical Congress 2022, these non-invasive stool-based screening methods are equally effective for screening for early-stage colorectal cancer (CRC). Pavan K. Rao, MD, a general surgery resident at Allegheny Health Network in Pittsburgh, Pennsylvania, presented study results that evaluated 117,519 enrollees within the Highmark claims database who underwent CRC screening in 2019. The researchers found:

  • About 60% of patients taking either the fecal immunochemical test or the DNA test at home instead of having a routine colonoscopy had early-stage cancer, but a FIT detected it at one-fifth the cost. 
  • The total annual costs for the tests were $6.47 million—$1.1 million for a FIT (about $24 per test) and $5.6 million for mt-sDNA (about $121 per test). Costs were calculated using Medicare reimbursement rates.
  • Transitioning all non-invasive CRC screening to FIT would result in $3.9 million in savings annually in the study population. 

Similarly, these results support previous studies out of Japan and the Netherlands that found FIT was more cost-effective than other types of non-invasive CRC screening tests. This provides our healthcare system with an efficient alternative at a reduced cost that maintains patient outcomes without compromising the quality of care. 

Colorectal cancer (CRC) screening is a vital preventative method to detect and remove a polyp and to diagnose cancer before it advances to an incurable stage. CRC screening options include endoscopy and stool-based testing. Now a new study that surveyed unscreened individuals at average risk for CRC has found that people have a preference for the stool-based screening option. 

The third most diagnosed cancer in the U.S., over 5 million people worldwide currently live with CRC. One method of CRC screening is a colonoscopy, which detects swollen, abnormal tissues, polyps, or cancer in the large intestine (colon) and rectum. Another form of CRC screening is the fecal immunochemical test (FIT). FIT is one of the most widely used CRC screening methods globally and is an affordable screening tool for studying large populations. FIT detects hidden blood in stool, a potential early sign of cancer, and it has an overall 95% diagnostic accuracy for CRC. 

It is estimated that 106,180 new colon cancer cases and 44,850 new rectal cancer cases will be diagnosed in the U.S. in 2022. With the screening age for CRC for average-risk adults lowered to 45 years, we need a better understanding of what the various age groups may prefer as a screening option to improve compliance and screening rates. 

The new study that was published has found that individuals in the 40-49 age group and those ≥50 years prioritized test modality above effectiveness when choosing their screening test. The findings of this study demonstrate that:

  • Both 40-49-years-old and ≥50-year-old age groups preferred FIT-fecal DNA every three years
  • The second preferred test for both age groups was a colon video capsule, or capsule endoscopy, every five years 
  • Regarding only the USPSTF tier 1 tests, both age groups preferred an annual FIT over a colonoscopy every ten years
    • 68.9% of 40-49-year-olds and 77.4% of ≥50-year-old participants preferred an annual FIT

These results conflict with current CRC screening approaches in the U.S., where colonoscopy is the screening test customarily used. Furthermore, these findings prompt the modification of current CRC screening guidelines and suggest that healthcare providers consider sequential-based screening procedures where FIT is offered before colonoscopy. The results, however, are consistent with a 2007 study, which supports the effectiveness of providing FIT before colonoscopy—the percentage of patients that were up-to-date with screening increased by almost 50% between 2000 and 2015 when they were offered direct-to-patient annual FIT outreach with colonoscopy. 

Scheduling delays and longer waiting times for colonoscopies have increased as millions of newly eligible individuals need a colonoscopy, all of which can strain resources and delay access and early screening for patients, especially for those at greater risk for CRC. Sequential approaches for CRC screening, such as those that offer FIT before colonoscopy, can help acknowledge and adjust to the increased need for screening and the lack of resources and help prioritize access to colonoscopy for those at greater risk for CRC.

 

Sahar Alam is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

Early-stage colon cancer is treatable and has a very promising survival rate. However, less than 40% of new colon cancer diagnoses are early-stage disease. Now, a new study has identified an association of distance, region, and insurance coverage with advanced colon cancer at initial diagnosis. Utilizing the Nation Cancer Database, patients 18 years or older diagnosed with colon cancer as a primary diagnosis between 2010 and 2017 were compared in terms of distance to their medical facility, region of residence, and insurance coverage. 

The study found that patients at an increased risk of advanced pathologic disease:

  • Traveled a greater distance to their medical facility
  • Lived in the Northeast, Mountain, or Central regions of the United States
  • Only had Medicaid or did not have insurance coverage

 

Sahar Alam is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

Colorectal cancer (CRC) is the third most common cancer diagnosis and the second most common cause of cancer death globally. The American Cancer Society estimates that there will be 106,180 new colon cancer cases and 44,850 new rectal cancer cases in the United States in 2022. Early detection and consistent screening reduce CRC incidence and mortality. A recent randomized controlled trial that analyzed the feasibility, adherence, yield, and related costs of various screening modalities found that a risk-adapted approach is feasible and cost-favorable for population-based screening. 

Current guidelines recommend standardized screening plans for specific age groups, with colonoscopy recommended every 10 years and a fecal immunochemical test (FIT) between 1-3 years. Implementation of risk-stratified screening can potentially allow for more frequent screening and earlier detection of CRC at a population level. This would especially be beneficial for individuals who are at higher risk of CRC. Additionally, risk-stratified screening can help health practitioners detect and introduce plans for CRC treatment at earlier stages.

The National Health Service Breast Screening Programme (NHSBSP) recently investigated the potential benefits, costs, and effectiveness of risk-stratified breast cancer screening with BC-Predict, a platform that collects self-reported risk factor information for breast cancer, analyzes the self-reported information, and invites high-risk or moderate-risk women to a conversation about prevention and early detection options. BC-Predict was found to have the potential to reduce breast cancer mortality due to early screening. It also reduced screening in women who are at lower risk, minimizing the number of false positive test results in lower-risk women. The results from this analysis are pertinent to risk-stratified screening for CRC and support the implementation of a risk-adapted approach in CRC screening.

What Did the Study Find?

More than 19,000 participants in the TARGET-C trial conducted in six cities in China were placed into one of the screening arms in a 1:2:2 ratio: 

  • One-time colonoscopy (n=3,883)
  • Annual fecal immunochemical test (FIT) (n=7,793)
  • Annual risk-adapted screening (n=7,697).

The detection rate of advanced colorectal neoplasia, CRC, and advanced precancerous lesions were the main outcomes that were monitored. The follow-up to trace the rate of advanced colorectal neoplasia for all participants was conducted over a 3-year study period. 

Over three screening rounds, the participation rates for colonoscopy, FIT, and risk-adapted screening arms were 42.4%, 99.3%, and 89.2%, respectively. The costs to the for detecting one advanced neoplasm, presented as both Chinese Yuan (CNY) and US dollar, using a package payment format were:

  • CNY6,928 ($1,004) for one-time colonoscopy
  • CNY5,821 ($844) for annual fecal immunochemical test (FIT)
  • CNY6,694 ($970) for annual risk-adapted screening.

These findings underscore the value of a risk-adapted approach for CRC screening for feasibility and cost-effectiveness, as well as for allowing for more frequent screening and earlier detection of CRC for individuals with a high or moderate risk for CRC.

 

Sahar Alam is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

In May 2021, the US Preventive Services Task Force (USPSTF) revised the colorectal cancer (CRC) screening age for average-risk adults to 45 years. However, stakeholders are concerned about the lack of awareness, access, and motivation among the younger age group to get screened. Now, a new research study has found that the prevalence of CRC screening remained lowest for individuals ages 50 to 54 years old and young adults (age<50) experienced smaller increases in screening prevalence over time, regardless of race, ethnicity, education, income, and insurance coverage. 

An investigation using population-based data from the National Health Interview Survey (NHIS), an annual, cross-sectional survey of the U.S. population conducted by the National Center for Health Statistics at the U.S. Centers for Disease Control and Prevention, studied CRC screening participation using surveys from multiple years. A sample of 80,220 participants ages 50 to 75 years old was analyzed for CRC screening participation. For each survey year, the prevalence of CRC screening was estimated for age, race, ethnicity, educational attainment, family income, and health insurance.

Racial, ethnic, and socioeconomic disparities influence screening rates. Despite the prevalence of CRC screening increasing from 36.7% in 2000 to 66.1% in 2018, screening prevalence was observed to be the lowest for:

  • Participants ages 50 to 54 years old
  • Hispanic populations (56.5%)
  • Asian populations (57.1%)
  • Participants with less than a high school degree (53.6%)
  • Participants from low-income families (56.6%)
  • Participants without insurance (39.7%) 

This may be the result of a lack of concern for cancer and cancer screening among younger adults and their healthcare providers, limited access to healthcare, absence of or limited insurance coverage, and other priorities for young adults, such as work and family. Disparities in screening rates can potentially extend to adults ages 45 to 49 as the new USPSTF recommendations are implemented. Multilevel barriers, such as patient-, provider-, and system-level factors, impact the completion of CRC screening for young adults (age<50), creating disparities and inequities in CRC screening. The administration of new CRC screening guidelines must acknowledge and account for multilevel disparities in screening programs to ensure all populations have equal access to CRC screening and benefit from CRC screening, especially newly eligible adults ages 45 to 49 years old. 

The benefits and outcomes of the updated USPSTF guidelines to extend CRC screening to ages 45 to 49 years old have been debated by clinicians and researchers. Concerns about the updated guidelines include redirecting endoscopic resources away from higher-risk and older patients, resulting in a more significant exacerbation of health disparities. Another criticism is that adults ages 45 to 49 years old who participate in screening may be less likely to belong to groups at higher CRC risk. 

One benefit of expanding CRC screening to the 45-49 age group is to increase the screening participation rate among older populations. Awareness of CRC screening may also increase, resulting in newly eligible adults having more time to schedule their first screening test. However, the impact of screening among those in the 45-49 age group on disparities, benefits, and participation of older adults may take several years to be fully recognized and understood, as the USPSTF’s effect on insurance coverage only occur in mid-2022.

Sahar Alam is a Colon Cancer Prevention Intern with the Colon Cancer Foundation.

The American Gastroenterological Association (AGA) has developed 8 position statementssolutions to eliminate colorectal cancer (CRC) screening barriers and reduce CRC burden. Evidence supports the existence of disparities in CRC screening: individuals with low income and lack of access to insurance coverage are disproportionately affected. Cost-sharing for preventive screening, in the form of deductibles and copayments, can be a financial barrier for some individuals. CRC screening programs and policies should cover all the steps following screening because each element is essential to the effectiveness of a screening program. Furthermore, these factors should not be subject to cost-sharing. Uniform, equitable delivery of screening programs will not only improve adherence and participation in CRC screening but also eliminate health disparities and reduce the burden of CRC in the United States. 

The following infographic details AGA’s approach:

The position statements have been published in Gastroenterology.

 

Photo credit: Clarissa Watson on Unsplash

Sahar Alam is a Colorectal Cancer Prevention Intern at the Colon Cancer Foundation.

With an observed increase of distant-stage colorectal cancer (CRC) among young patients in recent years, researchers have been searching for the reasons behind rising numbers and ways to counteract them. Carcinoids, a subtype of slow-growing cancer, have been found to contribute to the steadily rising incidence rate of early-onset colorectal cancer, which is diagnosed before the age of 50. This has created a need to assess the shifts toward distant-stage adenocarcinoma and its impact on public health.

Why Are We Seeing This Increase?

A study recently published in Cancer Epidemiology, Biomarkers & Prevention sought to understand how the proportions of distant-stage disease changed over time. Several studies have identified a significant increase (49%) in the average annual percent change for distant stage colorectal cancer in the 20-34 years age group. However, many of these studies do not report histological subtypes of CRC. 

With carcinoids increasing in younger patients, it is important to look at adenocarcinoma (most common cancer of the colon and rectum) staging independently from carcinoids (neuroendocrine tumors). Therefore, these researchers focused specifically on adenocarcinomas. Yearly adenocarcinoma incidence rates from the 2000-2016 Surveillance Epidemiology And End Results (SEER) data were stratified by stage, age, subsite, and race for 103,975 patients. Changes in the three-year annual incidence rate were calculated with the percent contribution of each cancer stage. Lastly, the subgroup with the highest proportion of distant-stage disease was determined.

The greatest percent increases were seen in distant-stage cancer when comparing data from 2000-2002 with 2014-2016. Here are a few significant findings of the study:

  • Colon-only distant adenocarcinoma increased most in 30-39-year-olds (49%)
  • Rectal-only distant-stage adenocarcinoma increased most in 20-29-year-olds (133%)
  • Based on race:
    • Distant stage proportions increased most for both colon- and rectal-only subsites in 20-29-year-old non-Hispanic Blacks (14% and 46%, respectively) 
    • The second most-impacted group was 20-29-year-old Hispanics with a 13% increase in the proportion of those affected by rectal-only, distant stage adenocarcinoma.

From these findings, we can conclude that the greatest burden of disease was on younger patients, highest in the non-Hispanic Black and Hispanic subgroups (despite relatively low absolute case counts). The researchers also uncovered that there is a decrease in early-stage disease in these early-onset groups. As we now know, younger patients are presented with higher risks, but the absolute incidence rates in the youngest subgroups remain relatively low.

These findings are important because they set a new precedent for patients under 50 who may not be aware that preventive screening for those at average risk of CRC starts at 45 years. Studies moving forward should also note that not all adenocarcinomas are categorized as early-onset CRC. Although this study is limited in its observational nature, it raises important questions in analyzing staging results, promoting screening opportunities, and keeping the general public aware of their risks. This study also presents potential solutions, including optimizing earlier screening and the risk-stratification of younger patients by family history and symptoms.

 

Juhi Patel is  Colon Cancer Prevention Intern.