Lynch syndrome, an inherited cancer syndrome, affects approximately one in every 279 individuals in the US, or about 1.2 million people[1]. Each year, as many as 4,200 colorectal cancers and 1,800 uterine cancers are caused by the genetic condition, according to the CDC.
National Comprehensive Cancer Network (NCCN) guidelines recommend that genetic testing be offered to anyone with a Lynch Syndrome-associated cancer before age 50, along with their close relatives. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group, a panel established to develop a systematic process for assessing validity and utility of genetic tests and genomic technology for clinical practice, indicates that genetic counseling and testing for Lynch syndrome may be appropriate for patients who have been diagnosed with colorectal cancer in the past, have been diagnosed with endometrial cancer (especially before age 50), or have several family members with colorectal, endometrial, or other Lynch syndrome-associated cancers.
And yet, less than 1.2% of individuals with Lynch Syndrome[2] have been identified in the general population. Why is it that so few people with Lynch Syndrome know it, given that it is a condition that confers an 80% lifetime risk for colorectal cancer and a 60% lifetime risk for endometrial cancer,[3] along with increased risk of cancers ranging from stomach to ovarian to brain cancer?
As a genetic counselor, I believe this is in large part due to the fact most primary care physicians do not do an annual comprehensive family history screening which could identify high-risk patients in their practice. I would also argue that part of the problem is the lack of continuity between primary care and oncological and other specialized care.
I also understand that primary care physicians are pressed for time and have to prioritize their focus, particularly as the profession is navigating a season of workforce shortages.
Here, genetic counselors can provide a much-needed link. Indeed, recent studies reveal that referrals to genetic counselors are underutilized in US patients with hereditary cancer syndromes,[4] even though a referral to a genetic counselor to help assess personal and family risk is a critical step in access to genetic testing.
Genetic counselors can be a useful resource to both healthcare providers and patients in navigating genetic counseling referrals and genetic testing. Identifying patients and their relatives who have Lynch syndrome can help improve health outcomes, as it allows for closer surveillance to reduce risk for cancer and can lead to early detection of cancer should it develop. Regular colonoscopies initiated at an earlier age have been shown to reduce incidence of colorectal cancer and reduce mortality in patients with Lynch syndrome, proving there is a clinical benefit to identify at-risk individuals.[5]
Given the benefits to diagnosing Lynch syndrome at an earlier age and the existing guidelines that support testing and reimbursement, there are three key steps physicians can take to help address existing barriers that contribute to testing underutilization and improve access for patients.
1. Primary care providers can help improve communication around family health history
Because primary care providers (PCPs) are often the first step in healthcare visits for Americans and frequently serve as a gateway to other more specialized areas of medicine, PCPs play a critical role in encouraging discussion of family health history with patients.
Family health history is one of the greatest indicators in determining whether someone should seek genetic counseling and genetic testing for Lynch syndrome, including if there are multiple relatives with Lynch-associated cancers, one or more family members who have had more than one type of cancer or who had cancer prior to age 50, or multiple generations with the same type of cancer. If family health history is not part of the dialogue between a patient and a healthcare provider, it eliminates a key tool a provider uses to help identify potential links between health history and disease risk.
A PCP can use existing tools to engage patients and help guide them on how to accurately collect their family health history. These include the HHS My Family Health Portrait tool and the Hereditary Cancer Risk Quiz offered by Quest, a guideline-based quiz designed to help patients identify whether they have personal or family history that indicates a risk for hereditary cancer. Helping patients understand the importance of family health history information and how genetics can impact their cancer risk, along with connecting them to resources that allow them to play an active role in their own health risk assessment, can be a good first step in opening the lines of communication.
To further put this in perspective, a nationwide survey conducted in 2004 found only one third of respondents had ever collected their family health history; a 2015 study found that there was little change in Americans’ knowledge and use of family health history one decade later.[6] Another study published in Hereditary Cancer in Clinical Practice found that half of patients who received a referral for a genetic evaluation were not offered genetic evaluation, and only 31% received genetic testing, with the biggest barrier being completion of a family health history form that was sent to patients after referral.[7]
This highlights a real need to open the dialogue about the importance of family health history in cancer syndrome risk assessment and is something that healthcare providers can take a more active role in, leveraging existing tools and resources to help maximize their time.
2. Integrate genetic counseling referrals into the primary care setting
Genomic medicine is rapidly evolving, and its technologies are becoming increasingly complex. Many primary care providers lack both confidence and skill in genetic testing due to a lack of experience and training in this area.[8]
It is understandable that a PCP may not be well-versed in genetic testing and genomic medicine. However, they can be a conduit to connecting patients to genetic counselors, if appropriate, and PCPs can, and should, lean on genetic counselors to advise them when they feel that they don’t have the resources or the time to adequately address the expanse of genomic medicine. Genetic counselors can be an invaluable resource for providers, whose expertise can aid in guiding processes from appropriate test selection to results interpretation to helping patients and providers navigate next steps based on their results.
At Quest Diagnostics, PCPs and specialists can reach one of our board-certified genetic counselors or other experts through our genomics client services group to gain insights into genetic testing for their patients. They can also assist in connecting patients with resources to find a genetic counselor who can provide comprehensive counseling services and risk assessment.
3. Address disparities in access to genetic testing and counseling
This is perhaps the most complex in a web of complicated issues and barriers we must navigate to help increase access to genetic counseling and testing, and therefore increase testing for Lynch syndrome and other hereditary cancer syndromes.
The CDC has cited that many people with genetic disorders and inherited conditions like Lynch syndrome face barriers to health equity that are related to social determinants of health.[9] Among PCPs, common barriers to genetic services referrals include provider concerns about costs to patients and uncertainty of when a genetic referral is appropriate.[10]
There are patient barriers as well, like limited awareness and knowledge about genetic counseling/testing, concerns about cost, confidentiality, stigma, and discrimination, and the impact on the family.[11],[12]
Education of both patients and healthcare providers may reduce culturally and racially based obstacles to genetic testing. When deemed medically appropriate, advanced genetic testing technologies are supported by expert medical specialists, board-certified genetic counselors and covered by payers.
