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Genetics and the Risk of Colorectal Cancer

CCCF Research

There is growing concern about the increasing rate of colorectal cancer (CRC) among younger people. As a result, the recommended age for screening has been lowered to 45 years. The American Cancer Society estimates that there will be approximately 106,590 new cases of colon cancer in the United States, with 54,210 cases in men and 52,380 cases in women. Additionally, there will be about 46,220 new cases of rectal cancer, with 27,330 cases in men and 18,890 cases in women. Since the mid-1990s, there has been a 1% to 2% increase in the number of CRC cases in people younger than 55 years of age. A study has shown that millennials (those born between the early 80s and late 90s) are twice as likely to develop CRC compared to those born in 1950. Furthermore, millennials are less likely to undergo early screening for CRC.

Genetics and Poor Health Outcomes

Various factors contribute to poor health outcomes. Common risk factors for disease include:

  • Diet 
  • Environment
  • Socioeconomic status
  • Education
  • Lifestyle and,
  • Genetics

Genetics is a significant risk factor for many diseases, including CRC. According to one study, about 30% of CRC cases are inherited, with Lynch Syndrome being the most common cause of hereditary CRC.

 Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer or HNPCC, is an inherited disorder that elevates the risk of several types of cancer, including colorectal and uterine cancers. Approximately 4,300 colorectal and 1,800 uterine cancers per year are attributed to Lynch syndrome. It is estimated that 1 in 279 individuals in the United States have a variant associated with Lynch syndrome. Lynch syndrome raises the risk of developing cancer before the age of 50.

 Early detection of Lynch syndrome through genetic testing can help identify CRC at an early stage. While genetic testing may not determine the cause of hereditary CRC, it can indicate if an individual has polyps and is at risk of developing CRC. This information allows for early colonoscopy and lifestyle changes that may reduce the risk and prevent late recognition of CRC.

Barriers to Genetic Testing

Common types of genetic testing includes;

  • Single gene testing, which examines changes in only one gene
  • Panel testing, which examines changes in many genes in one test
  • Large scale testing: this could be genome sequencing (which examines a person’s entire DNA) or exome sequencing (which focuses solely on the genes associated with medical conditions).

There are various reasons why people may be hesitant to undergo genetic testing:

1. Concerns about privacy breaches, stigmatization, and discrimination by healthcare providers.

2. Lack of trust in the healthcare system, particularly among Black Americans, due to historical instances of unethical research targeted at Black individuals.

3. Limited awareness or knowledge about the benefits of genetic testing.

4. Worries about potential health insurance discrimination based on genetic testing results.

 These concerns act as barriers that prevent individuals from receiving necessary help and contribute to mortality rates related to CRC.
Genetic testing is recommended in the following situations:

1. If you have had CRC.
2. If you have a family member with Lynch syndrome or a history of CRC.
3. If you have had uterine cancer before the age of 50.
4. If your tumor screening results show abnormalities.

 It is advisable to undergo genetic screening as soon as possible if there is a family history of cancer, regardless of your age. In addition, couples planning to have children should consider getting screened to identify potential health risks for future generations. As always, consult with your doctor for guidance.

 

Emmanuel Olaniyan is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

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Cystic Fibrosis and CRC: A Surprising Connection

By Parker Lynch

According to the Mayo Clinic, cystic fibrosis (CF) is a disorder in which there is severe damage to the lungs and other organs in the body. This condition presents itself differently in each patient when comparing manifestations of symptoms; however, wheezing, difficulty breathing, exercise intolerance, constant lung infections, and recurrent sinusitis are all very common among individuals with CF. People with cystic fibrosis are very strong and admirable, as their condition can be very arduous in terms of treatment and monitoring: the need for consistent medication (bronchodilators, mucus thinners), using special devices and techniques to assist with breathing, monitoring what they eat, etc. 

Though it seems like CF and colorectal cancer (CRC) wouldn’t even be remotely related, adults with CF actually have a 5-10 times higher risk of developing CRC as opposed to adults without CF. On top of this, individuals with CF who receive lung transplants (or any other solid organ transplant, for that matter) are 20 times more likely to develop CRC, which requires them to complete their preventative screenings at the age of thirty rather than the standardly-recommended age of forty-five.

You can read about a CF patient’s experience with her surprise diagnosis of CRC. 

Where is This Connection Coming From?

As with any other condition or diagnosis, researchers aren’t completely certain of what the singular cause is of a CF patient’s higher chance of developing CRC. However, it is believed that mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene may have a role to play. Mutation in the CFTR gene not only leads to the development of CF, but can also lead to the development of CRC, though more research needs to be done on this topic to be able to analyze the strength of the correlation between the two. 

Moving Forward With This Information

Patients with CF are recommended to receive regular colonoscopies beginning at the age of 40 (which is five years younger than typically recommended among the adult population). Those who have received lung transplants are recommended to get their screenings at the age of 30, due to the aforementioned risks that come with organ transplantation and CRC development. 

Outside of preventative screenings, monitoring CF and CRC requires collaborative efforts among different healthcare providers as well as the individual themselves. The important factor here is that CF patients are made aware of their increased risk of getting CRC, and have a support system in navigating appointments, physician communication, screenings, etc. 

Monitoring one condition alone is extremely stressful and taxing on an individual, let alone having to deal with two. The American Cancer Society has a list of psychosocial resources for individuals who need support with navigating their healthcare, while also helping provide financial assistance, individual therapy, and group therapy. Health concerns are never easy to deal with, and it is always okay to reach out for help. 

 

Parker Lynch is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

Image credit: Gordon Johnson from Pixabay

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Colon Cancer Risk in Cystic Fibrosis: A Patient Shares Her Experience

By Anna Payne

Thank you to the Cystic Fibrosis Research Institute for letting us share this blog with our audience!

Last year, at the age of 34, I was living in a place of hope. I was thriving on Trikafta, working full time, serving as elected Supervisor for Middletown Township in Bucks County Pennsylvania, and acting as Vice-Chair of the Pennsylvania Rare Disease Advisory Council. For the first time in a long time, I had hope for a future of a “healthy” life. I had big dreams and a lot of things I wanted to accomplish. But then I found a mass in my groin, and after a long, painful and circuitous diagnostic journey, that included numerous invasive tests and long waits between them, I received the news no one wants to hear. “You have Stage 4 colon cancer.”

Known as the “silent cancer,” colorectal cancer remains the third leading cause of cancer-related deaths in the U.S. among the general population. Those with cystic fibrosis have a significantly higher risk of colon cancer than the general population. For those with CF who have not had a transplant, their risk of colon cancer is five to ten times higher, while individuals with CF post-lung transplant have twenty times the risk as the general population.

What makes us especially vulnerable is that colon cancer symptoms can and often do mimic issues that we CF survivors experience daily. More research is needed to determine exactly why we’re at such elevated risk for the disease, but it’s believed to be linked to a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

The most effective tool for preventing this silent disease is a colonoscopy. Colon cancer always starts in the form of polyps, which if found early can be removed prior to becoming malignant. Colonoscopies are recommended for the general population at 45, yet despite our highly elevated risk, the current recommendation for a first screening colonoscopy for a person with CF is 40. That’s too late and must change. Screenings can prevent about 60 percent of colorectal cancer deaths.

I was 34 years old when diagnosed; I had few symptoms and no known family history. Colon cancer grows slowly, and it’s possible it’s been in me for years. I initially sensed that something was wrong when I had minor digestive issues. They persisted, but I second-guessed myself. Then I found a mass in my groin about the size of a dime.

After an inconclusive ultrasound, and while waiting for an appointment with a general surgeon, the lump grew to the size of a walnut. I went to my CF team for help. They found a bowel blockage, a common condition for those with cystic fibrosis known as Distal Intestinal Obstruction Syndrome, or DIOS. We hoped a colon cleanse would clear the blockage, but deep down I knew it was something more serious.

After a CAT scan and a biopsy of the groin mass, came the bad news. Cancer. I burst into tears. A PET scan then revealed the cancer had spread to other organs, including my ovaries, liver – which had 14 lesions – and lymph nodes.

After thriving on modulators, I have been transformed by cancer back into that sick, little vulnerable girl with CF who spent many nights curled up in a hospital bed, unsure of her future. I am now undergoing aggressive chemotherapy, requiring me to be outfitted with a take-home pump. Five times a week, I’m hooked up to an IV pole at home, on fluids to help me re-hydrate. Chemotherapy leaves me fatigued and immunocompromised, susceptible to infections and viruses that can be deadly.

Naturally, that’s required me to adjust my social life, relying on a network of friends. Work has taken a backseat to the battle at hand, but my supportive employer allows me to work remotely — as much as I’m able. My wonderful colleagues have carried the load in my absence. I miss them. I’ve even come to miss the 45-minute commute to my office with a stop to get a hot tea at Dunkin’.

Simple joys like eating — which most of us take for granted — are now a chore. I eat for calories, not pleasure. My diet changed drastically, and I no longer enjoy foods I’d grown up eating, such as macaroni and cheese and steak. If you looked in my cabinets now, you’d mainly find massive amounts of Fruit Loops and Apple Jacks.

I was shocked when my platinum blonde hair – with blue streaks – fell out in clumps. Losing hair is traumatic – it’s about body image, one’s sense of self, and feeling normal. Many have told me not to worry, that it will grow back, but I have no idea how long I will be on chemo, and whether that is true. While I have multiple wigs that allow me to feel like a different superstar each day, and a wide array of knitted hats, I often scrap these so I can emulate my idol, the Rock.

As a little girl, I spent a lot of time inpatient at St. Christopher’s Hospital for Children in Philadelphia. Watching the Rock on the weekly Smackdown was a great escape. Amazingly, the Rock learned about my diagnosis and sent me a heartfelt video wishing me luck in my fight. It’s been viewed millions of times on his Instagram page, and has allowed me to feel less isolated, with a virtual connection to countless people who channel their positivity toward me.

Prior to my diagnosis with colon cancer, I planned to travel across the globe. I wanted to hold a koala bear in Australia and visit Costa Rica. I planned to run for higher elected office. I had hopes and dreams that have been put on pause. I live in a world of uncertainty. Once again, I am learning to be comfortable living in the uncomfortable.

As science improves and evolves, so should our thinking. Cancer screenings must become a normal routine for cystic fibrosis adults, and the sooner the better. My hope is that the recommended age for a first colonoscopy will be lowered to 25 years for those with CF.

But you don’t have to wait for that to happen. If you have symptoms, don’t write them off as the usual CF GI issues. Go and get screened. You may end up saving your own life.

 

Image credit: David Sánchez-Medina Calderón from Pixabay
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IGNITE-TX Study Aims to Identify Individuals for Genetic Testing for Familial Cancer

By Alexa Kanbergs, MD-ScM, MS

What is IGNITE-TX?

Have you been diagnosed with Lynch Syndrome or a BRCA1 or BRCA2 genetic mutation? Do you have family members who have not yet undergone genetic testing? If yes, then this study may be for you! The IGNITE-TX study explores ways to increase genetic testing for family members of those diagnosed with Lynch Syndrome or a BRCA1 or BRCA2 genetic mutation. This is also known as cascade genetic testing.

What the Study Involves

Individuals eligible for the study will be granted access to the IGNITE-TX website. The website contains information about their genetic mutation and how to share information with family members. Participants and their family members will be placed at random into four groups:

  • Group 1: Standard of care, which is receiving a letter with information on their specific hereditary cancer syndrome that they can share with their relatives
  • Group 2: Free genetic counseling and testing
  • Group 3: The IGNITE-TX intervention, which gives family members access to the website and education modules as well as access to a study navigator
  • Group 4: The IGNITE-TX intervention and free genetic counseling and testing.

All participants (including family members enrolled in the study) will be asked to complete a baseline survey and then follow-up surveys at 6 and 12 months. Participants will receive a $10 gift card after completion of each survey.

Why Should I Enroll? 

There are good reasons to join the IGNITE-TX Study. First, you get to help others. By joining, you can help test your family members, and it also helps us learn better ways to conduct genetic testing for people whose family has a history of cancer. Additionally, everyone who takes part in the study will be compensated for their time.

How Do I Know if I am Eligible to Enroll?

You are eligible to participate in this trial if:

  • You are 18 years of age or older
  • You or your family member has a positive genetic test result  for the BRCA1/BRCA2 mutation or Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM mutation)
  • You have an email address and/or a U.S. cell phone number
  • You speak English or Spanish

You are not eligible to participate if:

  • You do not have any relatives
  • You do not have one of the genetic conditions listed above or only have been told you have a variant of uncertain significance

Study Locations

We are targeting enrolling patients throughout the U.S.

Study Contact Information

J. Alejandro Rauh-Hain, PI

Heidy Bosch Study Coordinator

Study specific contact information: [email protected], Phone: 713 792 9155

 

Clinicaltrials.gov identifier:

NCT05677048 (https://clinicaltrials.gov/show/NCT05677048)

 

Alexa Kanbergs, MD-ScM, MS, is a Gynecologic Oncology Fellow, MD Anderson Cancer Center.

Photo credit: Rajiv Perera on Unsplash

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Colorectal Cancer in Young Adults: What Are We Learning?

By Deepthi Nishi Velamuri

Colorectal cancer (CRC) is a disease that typically affects older adults, but it is becoming increasingly common in young adults. In fact, data indicate that 15% of patients diagnosed with CRC in the U.S. are under the age of 50 years and the mean age at diagnosis is 42.5 years.

There are a number of factors that may contribute to the rising risk of CRC in young adults. These include:

  • Changes in diet and lifestyle: Young adults are more likely to eat a diet high in processed foods and red meat, and to be less physically active than previous generations. These factors can increase the risk of developing CRC. Young adults with CRC are more likely to be obese. This suggests that obesity may be a modifiable risk factor for the disease in young adults.
  • Genetics: Some people have a genetic predisposition to CRC. If you have a family history of the disease, you are at an increased risk.
  • Inflammatory bowel disease: People with inflammatory bowel disease, such as ulcerative colitis or Crohn’s disease, are also at an increased risk of CRC.

Prevention, Genetics, and Disease Outcomes

The good news is that CRC is often preventable. If you are at an increased risk, you should talk to your doctor about getting screened for the disease. Screening can help identify polyps, which are growths that can develop into cancer. If polyps are found, they can be removed before they have a chance to turn cancerous.

Young adults diagnosed with CRC are more likely to have advanced-stage disease at the time of diagnosis. This suggests that young adults are less likely to be screened for the disease—often despite showing symptoms such as rectal bleeding, abnormal or changing bowel patterns, fatigue, etc—which can lead to later-stage diagnosis and poorer outcomes.

A number of genetic mutations associated with CRC in young adults have been identified. These mutations can help identify people who are at an increased risk of the disease, and they can also be used to develop new targeted therapies.

Need for Improved Management of Young Adults

While we are still trying to understand the mechanism of CRC development in young adults, it is clear that this is a serious and growing problem. By understanding the risk factors for the disease and getting screened, young adults can protect themselves from CRC.

Here are some tips to reduce your risk:

  • Eat a healthy diet that is low in processed foods and red meat
  • Get regular exercise
  • Maintain a healthy weight
  • Don’t smoke
  • Limit your alcohol intake
  • Talk to your doctor about getting screened for CRC if you are at an increased risk

 

Deepthi Nishi Velamuri is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

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Genetic Disparity May Contribute to Worse CRC Outcomes Among African-Americans

Health disparities are present in a multitude of different health issues and drive inequity among populations. These populations can be defined by factors like race, income, gender, or even geographic location. Improving access to colorectal cancer screening involves addressing these populations. Researchers can utilize data to identify geographic disparities, but understanding racial disparities becomes more complicated due to sociodemographic and cultural considerations. Yet, scientists at the Memorial Sloan Kettering Cancer Center (MSKCC) may have discovered reasons for these disparities on a microscopic level.

MSKCC researchers analyzed DNA sequencing data of over 4,000 patients at the hospital over the course of 8 years and compared it to ancestry information. They found that patients with African ancestry had shorter median survival post-diagnosis, had less accurately predicted outcomes, and were less likely to have the genetic mutations needed to be considered for immunotherapy. Overall survival  for the African ancestry group was only 45.7 months post-diagnosis compared to 67.1 months for the European ancestry group.

Mutations in the adenomatous polyposis (APC) gene, which is a known tumor suppressor, are associated with better CRC outcomes. However, this mutation appeared to make no difference in survival for Black patients while improving survival rates among European, East Asian, and South Asian CRC patients.

Disparity in Treatment Response

When it came to treatment, the African ancestry group had less genetic markers for effective immunotherapy treatment as defined by the FDA. While the European ancestry group had a 20.4% qualification rate, the African ancestry group had only 13.5%. Even compared to those who did not qualify for immunotherapy treatments based on FDA guidelines, those with African ancestry still experienced less actionable genetic alterations than the European group (5.6% and 11.2% respectively). Researchers propose that this may be due to fewer BRAF V600E mutations in the African ancestry group. Patients who carry this mutation typically respond well to certain targeted treatments.

A limitation of this study is its exclusion of environmental and lifestyle factors that are important in CRC outcomes.

Addressing health disparities in screening and treatment benefits researchers and community efforts by identifying how and where to implement interventions. This study suggests that these large-scale issues may have solutions hidden within the population of interest itself.

 

Kaylinn Escobar is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

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Expanding Multigene Panel Testing Criteria for Colorectal Cancer Patients

Multigene panel testing (MGPT) is a tool to identify genetic mutations that can increase an individual’s risk of a disease such as cancer. MGPT can also be used to develop a treatment plan or to help predict whether cancer will spread to other parts of the body. A recent study examined colorectal cancer (CRC) patients and found that 14.2% of patients carried at least one pathogenic germline variant (PGV), with more than one PGV identified in 1.4% of patients. 

Identification of pathogenic or likely PGVs in hereditary cancer predisposition genes can affect a patient’s treatment plan. While there is increased support for universal MGPT for certain forms of cancer, eligibility criteria for CRC are more restrictive: germline genetic testing for CRC is recommended only for a subset of patients with CRC who meet certain “high-risk criteria,” which include:

  • Diagnosis before 50 years 
  • Lynch syndrome–related cancers 
  • Having a family history of certain Lynch syndrome-related cancers 
  • Abnormalities in mismatch repair immunohistochemistry

The above mentioned study conducted MGPT across a diverse CRC population to determine whether genetic testing criteria for patients with CRC should be broadened. The results of the study found that of the 34,244 individuals who were tested:

  • 14.2% of individuals carried at least one PGV, with more than one PGV identified in 1.4% 
  • 11.9% of individuals carried a clinically actionable variant, including 9.1% carrying a PGV in a gene associated with an increased CRC/polyposis risk 
  • 5.7% of individuals carried Lynch syndrome–related PGVs 

This research study is the largest to date examining MGPT in CRC, and demonstrated high rates of clinically actionable variants detected, independent of the age at the time of testing, the number of genes on the panel, and race/ethnicity. These findings provide evidence to support the broadening of genetic testing criteria for patients with CRC, which in turn will have a significant impact on disease management, the treatment plan, and ultimately, disease outcome.

 

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What Do I Need to Know About Genetic Testing for Colorectal Cancer?

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.

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Clinical Decisions Support Systems May Exacerbate Healthcare Disparities

Clinical decision support systems (CDSS) are computer-based applications used to analyze data within electronic health records (EHRs). CDS algorithms are progressively being integrated into healthcare systems to expand patient care. However, research and development in ethical frameworks have uncovered that CDS applications can perpetuate bias in healthcare. A recent EHR quality improvement study has revealed significant differences in family history accessibility, availability, and comprehensiveness based on sex, race and ethnicity, and language preference. These findings propose that historically medically underserved populations are excluded from identification from CDS tools based on family history information, unintentionally reinforcing existing healthcare disparities and potentially creating more disparities in healthcare systems.

 

decision support system

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New NCCN Guidelines Recommend Genetic Testing for All CRC Patients

Colorectal cancer (CRC) is the third most diagnosed cancer and over 5 million people worldwide currently live with CRC. According to the American Cancer Society, the lifetime risk of developing CRC is 1 in 23 for men and 1 in 25 for women, and recent research indicates an increased incidence of CRC among individuals younger than 50 years of age.

Recent research has revealed that a significant number of CRC patients with heritable genetic mutations remain undiagnosed under past genetic testing guidelines, which limited testing to specific age groups and forms of cancer. Now, the National Comprehensive Cancer Network (NCCN) has announced new guidelines that recommend germline multigene panel testing for all individuals with CRC ages <50, as well as consideration for germline multigene panel testing for those with evidence of mismatch repair deficiency in their tumor or a family history of CRC. 

Robert Nussbaum, M.D., co-authored a letter to the NCCN to formally request universal germline testing for CRC patients to be added to the guidelines. He states, “As the medical community’s understanding of genetic links to cancer evolves, genetic testing guidelines must evolve with it.” Increased accessibility to multipanel genetic testing can extend the representation of medically underserved populations and reduce the exacerbation of existing disparities. Expanding guidelines for genetic testing for CRC can also help family members determine their risk for CRC, increase surveillance for early detection, discover curative treatments, and promote awareness of CRC for those at increased risk. 

Universal Versus Guideline-Directed Targeted Testing for Hereditary Cancer 

Genetic factors play a significant role in the risk of developing many forms of cancer. Identification of germline predisposition can notably determine and direct a more effective plan of care, treatment, risk-reducing interventions, cancer screening, and germline testing. A multicenter cohort study among 2,984 cancer patients compared universal genetic testing with guideline-directed targeted genetic testing based on clinical guidelines to examine the prevalence of pathogenic germline variants (PGVs) in cancer patients. One in eight patients had a pathogenic germline variant, but 48% of those cases would not have been identified with a guideline-based approach. This underscores the limitations of clinical and guideline-based risk assessment for genetic testing. The multigene panel was more efficient at identifying heritable variants compared to guideline-directed targeted genetic testing. 

Importantly, identifying PGVs in cancer patients can encourage their relatives to take earlier action for risk assessment and cancer prevention. However, financial barriers and lack of insurance coverage can limit patient participation in genetic screening. This study points to the effectiveness of multigene panel testing and its implications for cancer prevention and treatment.

 

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

 

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