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Meet Up with Drs. Taylor and Long - What are your thoughts on timely referrals for Lynch syndrome screening?

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Thanks for featuring our work on R2R for Colon Cancer Awareness Month! Here’s a question for other community members. We’d love to hear your thoughts.

 

We expected a simple trigger and action model of referral: a high-risk screening test result was the trigger and the referral was the action that followed on immediately. One of the issues we had was a perception that there was no rush to refer. Some clinicians thought it was Ok to leave the genetics discussion for a later follow-up, say at the 12 month colonoscopy check. It was argued that there were no immediate treatment decisions to make on the basis of the result (unlike in say, breast cancer).

What do others think about this?


Posts/Comments

An oncologist would be the

An oncologist would be the best person to answer Dr. Long’s question. But the short answer is that it’s not okay to wait for a few reasons:

  1. It could change the patient’s surgery or therapy. Colorectal cancer patients who know they have Lynch syndrome, might elect to have more/all of their colon removed at the time of their colorectal cancer surgery instead of just the area with the cancer because of their high risk for second primary colorectal cancers. They also may benefit from treatment with anti-PD1 or anti-PDL1 immunotherapy so the results can change their treatment.
  2. It could save one of their relative’s lives. It is standard to offer genetic counseling and testing to all the at-risk family members once a colorectal cancer patient has been diagnosed with Lynch syndrome. Some at-risk relatives have tested positive and had their first colonoscopy at which time they were diagnosed with a colorectal cancer themselves. If the clinician had waited a year to discuss the diagnosis with the first member of the family, the relative may have been diagnosed at a later stage and had a worse outcome.

Thanks for including me on

Thanks for including me on this discussion—I am glad to comment. I 100% agree with Heather’s comments but wanted to also add a few points.

It could change the patient’s surgery or therapy. Colorectal cancer patients who know they have Lynch syndrome, might elect to have more/all of their colon removed at the time of their colorectal cancer surgery instead of just the area with the cancer because of their high risk for second primary colorectal cancers. They also may benefit from treatment with anti-PD1 or anti-PDL1 immunotherapy so the results can change their treatment.

First, I agree that I have also encountered among colleagues/community docs a somewhat relaxed approach to follow-up of a positive tumor result. My impression is that this is multi-factorial. While this delay is sometimes the oncologist, I have found that delays to evaluate can also occur when a patient’s care crosses multiple facilities (e.g. perhaps IHC was done one a colonoscopy biopsy through the GI doctor’s office, which is a private practice that is unrelated to the oncologist’s practice; or the IHC or MSI was done at the community-based hospital at the time of colonoscopy or surgery, but the patient goes to see a private practice oncologist across town who may be unaware it was done (sometimes the info on tumor testing is in a different place in the pathology). There are also unfortunately some patients who are just overwhelmed by cancer and a cancer surgery and treatment. Sometimes extra trips into see a counselor, or the extra costs and time burdens of testing, are just too much, even among people who wholly appreciate the risks. As these are often younger people, they simply have to weigh the time needed for surgery, treatment, and other medical care with time needed to work to maintain their jobs, time for family, etc. More mobile/adaptable counseling and testing models (phone-based counseling, peri-surgical testing models) might be superior in these settings.

I also agree with Heather that there are situations where a +MMR screen on a tumor or biopsy is immediately relevant to care (e.g. surgery, PD-L1/1 treatment), but these are, in my experience, not the majority of CRC cases, but an important minority to recognize. Practice has generally shifted away from total proctocolectomy or colectomy with IRA at diagnosis except in the most severe cases—I think many docs and patients are preferring to at least try intensive colonoscopy screening as the best option first (even with known Lynch), with the exceptions being individuals getting intensive screening who still develop an interval cancer or multiple tiny high grade lesions, those presenting with a second primary after a first diagnosis and subtotal colectomy (or multiple synchronous primaries at first diagnosis) or individuals with family histories that are highly penetrant with high early mortality from colorectal cancer (basically people who are just scared to death of dying and will do anything to lower that risk).

As for immunotherapy eligibility, thankfully the tumor test result alone is adequate to guide use of PD-1/L1 therapy at this point—whether people with Lynch dMMR vs other causes of dMMR (MLH1 promotor methylation) have differential responses to immunotherapy stands to be seen but knowing germ-line status (versus a somatic cause of dMMR) is not critical at this point to starting these therapies.

It could save one of their relative’s lives. It is standard to offer genetic counseling and testing to all the at-risk family members once a colorectal cancer patient has been diagnosed with Lynch syndrome. Some at-risk relatives have tested positive and had their first colonoscopy at which time they were diagnosed with a colorectal cancer themselves. If the clinician had waited a year to discuss the diagnosis with the first member of the family, the relative may have been diagnosed at a later stage and had a worse outcome.

This response is right on the money—this is where delay, to me, offers the greatest possible disservice to a patient and family members—it is not infrequent that another family member is diagnosed with cancer or advanced pre-cancer once they find out they have Lynch and start screening. Delays lead to worse prognosis for these unaware relatives. The other side of this issue is the risk to women with a CRC causes by Lynch who could have elected prophylactic TAH-BSO at or around the time of CRC surgery rather than having a year or more of risk to potentially develop endometrial or ovarian cancer. I probably see 1-2 cases of synchronous GYN-CRC a year in patients with new diagnosis of Lynch—thankfully these are often in women with very astute docs who pursued the tumor testing quickly and recommended GYN evaluation only to low and behold find another cancer lurking.

I hope this helps and I am glad to give more input if any of this is unclear. 

Thanks Michael and good point

Thanks Michael and good point about the immune therapy!