We evaluated diagnostic work-up for Lynch syndrome in a large cohort of CRC patients diagnosed in an integrated health care system. Information needed to evaluate risk for Lynch syndrome was missing in nearly half of these patients (48.9%), and referral for genetic evaluation was made in only 7% of those meeting Bethesda guidelines. We found under-recognition of Lynch syndrome involved patients with clear criteria (such as age<50, presence of synchronous and metachronous and/or extracolonic Lynch syndrome associated tumors) as well as subtle ones (detailed family history of cancer). Considerable information was missing from family history notably the age of 1st degree relative affected with Lynch syndrome related malignancy, and the mention of Lynch syndrome related malignancy 2nd degree relative.
Our study addresses the low recognition of Bethesda guidelines beyond family history of cancer.9
For instance, the 49 patients who met non-family history related Bethesda criteria also had low documented suspicion, genetic referral and testing. All study patients were seen by multiple specialists in course of their treatment, including primary care, gastroenterologists, oncologists and surgeons. One explanation of this observation is “availability” heuristic”17
or mental shortcut which refers to the tendency to recognize a diagnosis because of ease in recalling a past similar case. Providers who have not previously seen or encountered (i.e., availability) a case of missed or delayed Lynch syndrome diagnosis may be unlikely to think of it as a possibility, or stated differently “out of sight, out of mind”. This is especially relevant in that VA users undergoing colonoscopy are mostly older than 50 years where prevalence of Lynch syndrome is likely to be low. Another possible reason for the low referral rate for genetic counseling and testing could have been the providers’ knowledge that non-family history criteria for MSI testing are less predictive of a positive genetic test for Lynch syndrome in population with low prevalence for this syndrome.18
Nevertheless, strategies to improve recognition require further understanding of the precise cognitive errors19,20
that lead to missed Lynch syndrome diagnosis.
Our study confirms that family history continues to be poorly documented even in the presence of electronic health records that potentially facilitate such documentation. Our work thus builds on previous work which shows low referral rates for genetic evaluation for CRC syndromes because of non-recognition of familial cancer risk.1,15,16
However, we also found specific areas where family history assessment needs improvement. For instance, documentation of age of affected relatives, and documentation of information on second degree relatives was mostly lacking, and both are essential details pertaining to evaluation of risk for Lynch Syndrome. Efforts to improve family history assessment21,22
might need to specifically focus on this area.
The study provides insight on potential interventions to improve Lynch syndrome recognition. Multifaceted strategies to improve family history documentation in EHR systems are required. Currently this information is available in free-text format, often dispersed throughout the EHR in individual notes, and hence not easily accessible. This could be overcome by designing a structured stand-alone field in the EHR, where it would be possible for the family history to be documented, retrieved and updated by other providers.23
Recognition of possibility of Lynch syndrome could also be improved by better computerized clinical decision-support in the EHR.24
For instance, diagnosis of CRC in a patient less than 50 year of age could initiate an electronic reminder to future providers to pursue further diagnostic work-up for Lynch syndrome, or a trigger for more detailed personal and family history of cancer. Moreover, web-based models to assess risk for MMR mutations can be potentially incorporated into the EHR.25,26
Lastly, our findings strengthen the need for specific programs on cancer genetics in the medical education curriculum.21
Most of the 14 Western European countries recently surveyed on strategies to identify individuals at high risk for CRC did not have such a program for such type of physician training.21
Similar deficits are likely to be present in the United States.
Our study was conducted in a single VA facility with mostly male patients, and hence our findings may not be generalizable to other settings. However, given the existing literature on lack of family history recognition in other settings and cancers, we believe under-recognition of Lynch syndrome is likely pervasive in other clinical settings. It is possible that some veterans may have sought care outside the VA system and obtained this counseling elsewhere; this information would not have been captured by this study. However, being a relatively closed system, only few veterans with cancer diagnosed in the VA generally obtain outside care. Moreover, we searched the medical record extensively for such documentation. The absolute numbers of study patients affected are likely small. Although we may have missed patients that might potentially be recognized in the few settings that perform micro-satellite instability testing on all CRC patients, the strategy we used to identify potential cases may also over represent patients with Lynch syndrome, given the low 2-5% prevalence of Lynch syndrome in this population. Finally, it is not clear whether the deficits in the “process” of searching for Lynch syndrome-related cancer were necessarily linked to adverse outcomes, such as missed diagnoses of Lynch syndrome in relatives, or improved survival in the proband.
In summary, under-recognition of Lynch syndrome is quiet common and it involves cognitive errors related to clinicians’ missing both family history and non-family history related clinical clues. The reasons and consequences of this under-recognition need to be further examined. This study provides insights on several potential multifaceted strategies to harness EHR capabilities to improve Lynch syndrome recognition.
Lynch syndrome is under-recognized, even when patients have clear criteria unrelated to family history. Multifaceted strategies focused on reducing providers’ cognitive errors and harnessing EHR capabilities to improve recognition of Lynch syndrome are needed.