Disclosures: Hampel reports being on the scientific advisory board for scientific advisory boards for Genome Medical, Invitae and Promega and Karlitz reports being an advisor for Exact Sciences.

March 26, 2021
5 min read

Q&A: Partnership streamlines genetic counseling, testing to identify hereditary GI cancer

Disclosures: Hampel reports being on the scientific advisory board for scientific advisory boards for Genome Medical, Invitae and Promega and Karlitz reports being an advisor for Exact Sciences.

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GI OnDEMAND has recently partnered with Ambry Genetics to integrate online genetic counseling and testing services into gastroenterology practices in the United States to better identify hereditary gastrointestinal cancer syndromes.

According to a press release, GI OnDEMAND will offer the CARE (Comprehensive, Assessment, Risk, and Education) program through the partnership. The program automates the process for genetic screening by sending to patients that are being seen in GI practices an electronic family history assessment tool in order to risk stratify them for the need for genetic testing. If patients meet criteria, an automated genetic testing cascade will ensue.

The program also offers education to patients on genetic testing and links test ordering and results delivery into one online platform so that both patients and providers have easy access to results. These services are provided at no cost to GI providers. Importantly, the platform offers direct genetic counseling to patients so that abnormal results can be reviewed, and clear clinical plans implemented. This process can help alleviate some of the strain on GI providers by streamlining the acquisition of family history information, automating the genetic testing process and providing reliable genetic counseling services and interpretation of results. Furthermore, as a single custom gene panel has been created that covers multiple GI malignancies there is no uncertainty regarding which type of testing needs to be ordered.

Healio Gastroenterology spoke with Jordan J. Karlitz, MD, FACG, chief medical officer, Gastro Girl, and director of clinical operations, GI OnDEMAND, and Heather Hampel, MS, LGC, senior director, Genetic Services, GI OnDEMAND, about the partnership perspective from a GI physician and genetic counselor, respectively.

Healio: What does this partnership mean?

Karlitz: It’s going to allow streamlined genetic testing and counseling services for patients. This is going to be incredibly valuable to the GI community. I led a study about 2 years ago that was published in Clinical and Translational Gastroenterology wherein we surveyed GI providers across the country to try to find out what the barriers are to implementing a genetics workup for colorectal cancer. We found that two of the most important were unfamiliarity interpreting test results and unavailable genetic counseling.

After we did further analysis, some barriers seemed to cluster in rural and non-academic settings. This study showed that there’s a need to enhance genetic testing and counseling services for providers across the country. Based on these results I felt that GI OnDEMAND would be the ideal modality to help maximize genetic evaluations in GI practices throughout the United States. It’s nice to see a direct translation between research, finding out what barriers to care might exist, and then finding a way to implement change and overcome these barriers. By partnering with a large, high quality genetic testing company like Ambry, we’re going to be able to reach a lot of patients and providers and enhance and streamline the testing process for them. Essentially, we are going to be able to bring tertiary level genetics care to any GI practice in the country.

Hampel: This partnership will allow GI practices around the United States to participate in the Ambry CARE Program, which will obtain family history and provide risk assessment to all their patients for potential hereditary cancer susceptibility syndromes. For practices that choose to participate, their upcoming patient schedule will upload to the Ambry CARE platform.

Healio: Can you further discuss the CARE program?

Hampel: The CARE program uses chatbot technology to communicate with patients about their family history and cancer risk. The patients will receive a text or an email which includes their doctor’s name and practice branding asking them to provide this information prior to their appointment. It will take their family history of cancer and polyps, and then it will perform a risk assessment using the most current National Comprehensive Cancer Network, or NCCN, guidelines for hereditary cancer syndromes. Patients will be informed if they meet the guidelines for genetic testing and if they are interested, they can learn more about the risks, benefits, and limitations of genetic testing. The education portion is self-directed so the patients can choose to get more or less information through various learning styles including visual aids, written text, and short videos.

Then when the patient comes in for their appointment, the GI will know if the patient meets guidelines and whether or not they have completed the education portion about genetic testing. They can answer any remaining questions and order testing. Blood can be drawn in the clinic or a saliva kit can be sent to the patient’s home. All patients found to have a hereditary cancer syndrome will receive free post-test genetic counseling by telehealth. Patients who test negative or have a variant of uncertain significance can also have free genetic counseling by request.

Healio: How will this change patient care?

Karlitz: It’s going to allow both providers and patients access to services that they may have had difficulty accessing in the past. Genetic counselors are invaluable for the genetic testing process and unfortunately there is a real shortage of genetic counselors in the United States. There may also be a geographic mismatch between where GI practices are located and where genetic counselors and those with genetic expertise might be in place. By making this a virtual program and circumventing geographic barriers, it’s going to allow providers and patients to match more easily with genetic counselors. It’s going to allow tertiary care genomic services to be implemented in any GI practice regardless of their geographic location.

Hampel: There are a lot of people with hereditary cancer syndromes who currently are going unidentified. And as a result, the patients aren't getting their cancer screening at the right ages, or the right intervals. It will benefit everyone if we can identify all of our patients with Lynch syndrome for example, since they need a colonoscopy, every 1-2 years starting at age 20-25 or 30-35 depending on the responsible gene. This will enable every patient being seen in GI for whatever indication to have a consistent family history obtained and a consistent risk assessment performed to ensure that the patients with hereditary cancer syndromes are identified.

Healio: What is a GI’s role in the CARE program and do you have any final messages?

Karlitz: We are in the process of introducing the partnership through the ACG. In the next few weeks and months, we will have educational materials available that will show GI practices what services are available and what the work flow will look like in their practices. As a GI provider myself, I think a key final message is that GI providers are already seeing patients with hereditary cancer syndromes, but unbeknownst to them they just have not been identified yet. These patients may have GI issues like GERD, IBD, IBS etc. but their genetic syndromes have yet to be detected because proper tools have not been easily and reliably available to identify them. In the U.S. 1 in 279 people are Lynch syndrome mutation carriers (which amounts to over 1 million people) but the overwhelming majority have not yet had a genetics evaluation to identify the syndrome. Lynch syndrome is associated with very high rates of colorectal cancer and other cancer types as well. Because it is autosomal dominant it can also affect many family members which creates a web of risk.