Lynch syndrome (LS) is the most common cause of hereditary colorectal cancer (CRC), and national guidelines recommend screening patients with CRC for LS. However, there is a paucity of data related to Lynch syndrome in the underserved population, in which unique issues of access, cultural beliefs regarding cancer, language barriers, immigration status, and financial restraints exist. We performed a descriptive, retrospective review of a selective LS screening protocol at an urban safety net hospital between 2009 and 2014 with the aim of describing the detected prevalence of LS as well as reporting the high quality and suboptimal screening rates. A total of 154 cases of CRC were identified over the 5-year period, of which 57 met selective LS screening criteria. Eleven patients had a positive screen, and three patients were diagnosed with LS, leading to an overall detected LS prevalence of 1.9 %. The rate of high quality screen was greater than 90 %, consistent with prior studies. Thus, we show that screening for LS in a safety net hospital can be successful in achieving high quality screening and provide an example for other public hospitals considering implementation of hereditary cancer screening.

Rationale, aims and objectives

Specialty care referrals have doubled in the last decade. Optimization of the pre-referral workup by a primary care doctor can lead to a more efficient first specialty visit with the patient. Guidance regarding pre-referral laboratory testing is a first step towards improving the specialty referral process. Our aim was to establish consensus regarding appropriate pre-referral workup for common gastrointestinal and liver conditions.

Methods

The Delphi method was used to establish local consensus for recommending certain laboratory tests prior to specialty referral for 13 clinical conditions. Seven conditions from The University of Michigan outpatient referral guidelines were used as a baseline. An expert panel of three PCPs and nine gastroenterologists from three academic hospitals participated in three iterative rounds of electronic surveys. Each panellist ranked each test using a 5-point Likert scale (strongly disagree to strongly agree). Local panellists could recommend additional tests for the initial diagnoses, and also recommended additional diagnoses needing guidelines: iron deficiency anaemia, abdominal pain, irritable bowel syndrome, fatty liver disease, liver mass and cirrhosis. Consensus was defined as ≥70% of experts scoring ≥4 (agree or strongly agree).

Results

Applying Delphi methodology to extrapolate externally developed referral guidelines for local implementation resulted in considerable modifications. For some conditions, many tests from the external group were eliminated by the local group (abdominal bloating; iron deficiency anaemia; irritable bowel syndrome). In contrast, for chronic diarrhoea, abnormal liver enzymes and viral hepatitis, all/most original tests were retained with additional tests added. For liver mass, fatty liver disease and cirrhosis, there was high concordance among the panel with few tests added or eliminated.

Conclusions

Consideration of externally developed referral guidelines using a consensus-building process leads to significant local tailoring and adaption. Our next steps include implementation and dissemination of these guidelines and evaluating their impact on care efficiency in clinical practice.

Background

Studies on colorectal cancer (CRC) screening and incidence among American Indian/Alaska Natives (AI/AN) are few.

Aims

Our aim was to determine CRC screening prevalence and to calculate CRC incidence among AI/AN receiving care within the Indian Health Service (IHS).

Methods

A retrospective cohort study of AI/AN who utilized IHS from 1996 to 2004. AI/AN who were average-risk for CRC and received primary care within IHS were identified by searching the IHS Resource Patient Management System for selected ICD-9/CPT codes (n = 142,051). CRC screening prevalence was calculated and predictors of screening were determined for this group. CRC incidence rates were ascertained for the entire AI/AN population ages 50-80 who received IHS medical care between 1996 and 2004 (n = 283,717).

Results

CRC screening was performed in 4.0% of average-risk AI/AN. CRC screening was more common among women than men (RR = 1.6, 95% CI 1.4-1.7) and among AI/AN living in the Alaska region compared to the Pacific Coast region (RR = 2.5, 95% CI 2.2-2.8) while patients living in the Northern Plains (RR = 0.4, 95% CI 0.3-0.4) were less likely to have been screened. CRC screening was less common among patients with a greater number of primary care visits. The age-adjusted CRC incidence among AI/AN ages 50-80 was 227 cancers per 100,000 person-years.

Conclusions

CRC was common among AI/AN receiving medical care within IHS. However, CRC screening prevalence was far lower than has been reported for the U.S. population.

Background

Current guidelines recommend offering genetic testing for Lynch syndrome to individuals whose tumors suggest this condition and to relatives of affected individuals. Little is known, however, regarding how patients view the prospect of such testing. In addition, data on preferences (utilities) for the potential outcomes of testing decisions for use in cost-effectiveness analyses are lacking.

Methods

Time tradeoff utilities were elicited for 10 potential outcomes of Lynch syndrome testing decisions and 3 associated cancers from 70 participants, representing a range of knowledge about and experiences with Lynch syndrome.

Results

Highest mean utilities were assigned to scenarios in which only the assessor's sibling had Lynch-associated colorectal cancer (ranging from 0.669 ± 0.231 to 0.760 ± 0.220). Utilities assigned to scenarios in which the assessor had Lynch-associated colorectal cancer ranged from 0.605 ± 0.252 to 0.682 ± 0.246, whereas the lowest mean utilities were assigned to 2 of the general cancer states (0.601 ± 0.238 and 0.593 ± 0.272 for colorectal and ovarian cancer respectively). Only 43% of the sample assigned higher values to undergoing Lynch testing and receiving negative results versus forgoing Lynch testing, whereas 50% assigned higher values to undergoing rather than forgoing surgery to prevent a subsequent cancer.

Conclusions

Genetic testing for Lynch syndrome, regardless of results, can have profound effects on quality of life; the utilities we collected can be used to incorporate these effects into cost-effectiveness analyses. Importantly, preferences for the potential outcomes of testing vary substantially, calling into question the extent to which patients would avail themselves of such testing if it were offered to them.

Introduction

The coronavirus disease 19 (COVID-19) pandemic has disrupted healthcare delivery including elective endoscopy. We aimed to determine the prevalence of endoscopy cancellations in the COVID-19 era and identify patient characteristics associated with cancellation due to the pandemic.

Methods

Medical charts were reviewed for adults who cancelled an outpatient endoscopic procedure from 5/2020 to 8/2020. The association of patient characteristics with cancellation of endoscopy due to COVID-19 was assessed using logistic regression.

Results

There were 652 endoscopy cancelations with 211 (32%) due to COVID-19, 384 (59%) due to non-COVID reasons, and 57 (9%) undetermined. Among COVID-19 related cancellations, 75 (36%) were COVID-19 testing logistics related, 121 (57%) were COVID-19 fear related, and 15 (7%) were other. On adjusted analysis, the odds of cancellation due to COVID-19 was significantly higher for black patients (OR 2.04, 95% CI 1.07-3.88, p = 0.03), while patients undergoing EGD (OR 0.56, 95% CI 0.31-0.99, p = 0.05) or advanced endoscopy (OR 0.18, 95% CI 0.07-0.49, p = 0.001) had lower odds of cancellation. The odds of cancelling due to COVID-19 testing logistics was significantly higher among black patients (OR 3.12, 95% CI 1.03-9.46, p = 0.05) and patients with Medi-Cal insurance (OR 2.89, 95% CI 1.21-6.89, p = 0.02).

Conclusion

Black race is associated with an increased risk of COVID-19 related cancellation. Specifically, black patients and those with Medi-Cal are at increased risk of cancellation related to logistics of obtaining pre-endoscopy COVID-19 testing. Racial and socioeconomic disparities in access to endoscopy may be further amplified by the COVID-19 pandemic and warrant further study.

MUTYH-associated polyposis (MAP) is a hereditary cancer syndrome that is caused by biallelic pathogenic variants in the MUTYH gene and should be evaluated for in patients with an attenuated colonic polyposis phenotype. Monoallelic pathogenic variants in MUTYH are associated with a moderate increased risk of colorectal cancer but not with the polyposis phenotype. We present a case of a patient presenting with multiple colonic adenomatous polyps, whose germline testing revealed a heterozygous pathogenic variant in MUTYH in exon 13, c.1187G > A (p.Gly396Asp) as well as a heterozygous variant of unknown significance (VUS) in MUTYH in exon 14, c.1379T > C (p.Leu460Ser). We interpret the VUS as pathogenic in light of the patient's phenotype; the fact that the VUS was in trans with a known pathogenic variant; and because all the in silico predictors suggested, it was likely to be deleterious. This case highlights the importance of a gastroenterologist recognizing the indication for genetic testing in a patient with greater than ten adenomas, the importance of a genetic counselor in interpretation of results, and is the first report of the specific variant in the literature with clinical information to suggest that it is likely pathogenic.

Aim

To determine the prevalence of gastrointestinal neoplasia among dermatomyositis patients who underwent an esophagogastroduodenoscopy and/or colonoscopy.

Methods

A cross-sectional study examining the results of upper endoscopy and colonoscopy in adults with dermatomyositis at an urban, university hospital over a ten year period was performed. Chart review was performed to confirm the diagnosis of dermatomyositis. Findings on endoscopy were collected and statistical analyses stratified by age and presence of symptoms were performed.

Results

Among 373 adult patients identified through a code based search strategy, only 163 patients had dermatomyositis confirmed by chart review. Of the 47 patients who underwent upper endoscopy, two cases of Barrett's esophagus without dysplasia were identified and there were no cases of malignancy. Of the 67 patients who underwent colonoscopy, no cases of malignancy were identified and an adenoma was identified in 15% of cases. No significant differences were identified in the yield of endoscopy when stratified by age or presence of symptoms.

Conclusion

The yield of endoscopy is low in patients with dermatomyositis and is likely similar to the general population; we identified no cases of malignancy. A code based search strategy is inaccurate for the diagnosis of dermatomyositis, calling into question the results of prior population-based studies. Larger studies with rigorously validated search strategies are necessary to understand the risk of gastrointestinal malignancy in patients with dermatomyositis.

Background

Emerging trials suggest fecal microbiota transplantation (FMT) is a promising treatment for ulcerative colitis; however, there is a paucity of data in Crohn disease (CD).

Objective

The objectives of this article are to determine whether single-dose FMT improves clinical and endoscopic outcomes in CD patients and to identify meaningful changes in the microbiome in response to FMT.

Methods

We performed a prospective, open-label, single-center study. Ten CD patients underwent FMT and were evaluated for clinical response (defined as decrease in Harvey-Bradshaw Index score ≥3 at one month post-FMT) and microbiome profile (16S ribosomal RNA sequencing) at one month post-FMT.

Results

Three of 10 patients responded to FMT. Two of 10 patients had significant adverse events requiring escalation of therapy. On microbiome analysis, bacterial communities of responders had increased relative abundance of bacteria commonly found in donor gut microbiota.

Conclusions

Single-dose FMT in this cohort of CD patients showed modest effect and potential for harm. Responders tended to have lower baseline alpha diversity, suggesting baseline perturbation of microbiota may be an indicator of potential responders to FMT in this patient population. Controlled trials are needed to further assess the efficacy and safety of FMT in CD and determine whether FMT is a viable option in this patient population.Clinicaltrials.gov number: NCT02460705.

A number of agents, including aspirin, nonsteroidal antiinflammatory drugs, cyclooxygenase-2 inhibitors, folic acid, calcium, and vitamins, have been evaluated for their potential in chemoprevention of sporadic colorectal adenomas or cancer. Preclinical data suggest that 5-aminosalicylates also may have a chemopreventive effect. To investigate chemoprevention of colonic polyps with balsalazide, a 5-aminosalicylate prodrug. In this randomized, double-blind, placebo-controlled study, adults diagnosed with small polyps in the rectosigmoid colon were treated with either balsalazide 3 g/d or placebo for 6 months. Follow-up lower endoscopy was performed, and all polyps were measured and analyzed histologically. The primary endpoint was reduction in mean size of the largest polyp per subject. Among 241 participants screened, 86 were randomized to treatment, with 75 subjects evaluable. Balsalazide 3 g/d (n = 38) did not significantly reduce the mean size of the largest colonic polyp or the number of polyps compared with placebo (n = 37). Although not significant, post-hoc analysis revealed that total adenoma burden per subject, calculated as the sum of the volumes of all adenomas in mm3, increased by 55% in the balsalazide group compared with 95% in the placebo group. Although balsalazide did not have significant chemopreventive effects on established colonic polyps, these results can aid in designing future prospective studies.