Low Referral Rates for Genetic Assessment of Patients With Multiple Adenomas in United Kingdom Bowel Cancer Screening Programs.

BACKGROUND: Approximately 1 in 20 cases of colorectal cancer are caused by monogenic syndromes. Published guidelines recommend that patients with 10 or more adenomas be referred for genetic testing, based on evidence that colorectal cancer risk is associated with adenoma multiplicity. OBJECTIVE: The aim of this study was to determine adherence to guidelines on referral for genetic screening in patients with 10 or more adenomas. DESIGN: A cross-sectional study was performed of prospectively collected data from the UK Bowel Cancer Screening Programme between May 2007 and June 2018. Only histologically confirmed adenomas were included. Clinicopathological data were recorded from patient records, and referrals to clinical genetics services were ascertained. SETTING: Data were obtained from 3 centers in London, United Kingdom. PATIENTS: A total of 17,450 subjects underwent colonoscopy following an abnormal fecal occult blood test. MAIN OUTCOME MEASURES: We quantified patients with 10 or more adenomas and the proportion referred for genetic screening. RESULTS: The adenoma detection rate was 50.6% among 17,450 patients who underwent colonoscopy (8831 had 1 or more adenomas). Three hundred forty-seven patients (2.0%) had 10 or more adenomas. Patients with 10 or more adenomas were more likely to be male than those with fewer than 10 adenomas (76.9% vs 53.4%; p < 0.0001). A family history was collected in 37.8% of the multiple adenoma population. Of 347 patients with 10 or more adenomas, 28 (8.1%) were referred for genetic assessment. LIMITATIONS: All 3 screening centers were in a single city. No genetic outcome data were available to permit analysis of actual rates of inherited cancer syndromes in this population. CONCLUSIONS: In this study, almost 1 in 50 patients had 10 or more adenomas. Despite guidelines advising genetic testing in this group, referral rates are low. A referral pathway and management strategies should be established to address this patient population. See Video Abstract at http://links.lww.com/DCR/B630. TASAS BAJAS DE DERIVACIN PARA LA EVALUACIN GENTICA DE PACIENTES CON ADENOMAS MLTIPLES EN LOS PROGRAMAS DE DETECCIN DEL CNCER DE INTESTINO DEL REINO UNIDO: ANTECEDENTES:Aproximadamente uno de cada veinte casos de cáncer colorrectal son causados por síndromes monogénicos. Las pautas publicadas recomiendan que los pacientes con diez o más adenomas sean derivados para pruebas genéticas, basándose en la evidencia de que el riesgo de cáncer colorrectal está asociado con la multiplicidad de adenomas.OBJETIVO:El objetivo de este estudio fue determinar la adherencia a las guías de derivación para cribado genético en pacientes con diez o más adenomas.DISEÑO:Se realizó un estudio transversal de datos recolectados prospectivamente del Programa de Detección de Cáncer de Intestino del Reino Unido entre mayo de 2007 y junio de 2018. Solo se incluyeron los adenomas confirmados histológicamente. Los datos clínico-patológicos se registraron a partir de los registros de los pacientes y se determinaron las derivaciones a los servicios de genética clínica.AJUSTE ENTORNO CLINICO:Los datos se obtuvieron de tres centros en Londres, Reino Unido.PACIENTES:Un total de 17.450 17450 sujetos pacientes se sometieron a una colonoscopia después de una prueba de sangre oculta en heces anormal positiva.PRINCIPALES MEDIDAS DE RESULTADO VOLARACION:cuantificamos los pacientes con diez o más adenomas y la proporción remitida para cribado genético.RESULTADOS:La tasa de detección de adenomas fue del 50,6% entre 17.450 17450 pacientes que se sometieron a colonoscopia (8.831 8831 tenían uno o más adenomas). 347 pacientes (2,0%) tenían 10 o más adenomas. Los pacientes con 10 o más adenomas tenían más probabilidades de ser hombres que aquellos con menos de 10 adenomas (76,9% frente versus a 53,4%; p <0,0001). Se recogieron antecedentes familiares en el 37,8% de la población de adenomas múltiples. De 347 pacientes con 10 o más adenomas, 28 (8,1%) fueron remitidos para evaluación genética.LIMITACIONES:Los tres centros de detección se encontraban en una sola ciudad. No se disponía de datos de resultados genéticos que permitieran el análisis de las tasas reales de síndromes de cáncer hereditario en esta población.CONCLUSIONES:En este estudio, casi uno de cada cincuenta pacientes tenía diez o más adenomas. A pesar de las pautas que recomiendan las pruebas genéticas en este grupo, las tasas de derivación son bajas. Se debe establecer una vía de derivación y estrategias de manejo para abordar esta población de pacientes. Consulte Video Resumen en http://links.lww.com/DCR/B630.

Test-retest reliability of touchscreen DriveSafe DriveAware.

INTRODUCTION: This prospective study examines the test-retest reliability of touchscreen DriveSafe DriveAware (DSDA). In a future study, the authors intend assessing the usefulness of DSDA to measure progress of patients undergoing treatment for neurological conditions. Evidence of test-retest reliability is required first. METHODS: Australian adults with current driver's licences (N = 39) aged 20 to 91 years (Mage  = 58) recruited from a convenience sample were assessed with DSDA. The assessment was repeated 6 weeks, 6 months, and 12 months later to match planned assessments of patients undergoing neurosurgical treatment in future research. DSDA classification, DriveSafe subtest score, and DriveAware subtest scores were analysed as a whole sample, and in three age groups. RESULTS: DSDA classification and DriveAware scores were consistent over repeated tests. DriveSafe scores increased between test 1 and 2 (p = .006), and thereafter no significant change from test 2 to 4. DriveSafe scores of older participants (70+ years) increased between test 1 and 2 more notably than younger participants' scores. No DriveSafe scores decreased over time. CONCLUSION: DSDA classification and DriveAware scores demonstrated test-retest reliability for all age groups. DriveSafe scores did not demonstrate test-retest reliability between test 1 and 2 for participants 70+ years. However, DriveSafe scores demonstrated test-retest reliability after test 2, possibly indicating an initial learning effect for the DriveSafe score only. The authors posit that this result may have been influenced by older adults' reduced familiarity with iPad technology at first assessment. Further longitudinal research is required to confirm whether these results are consistent in a sample population with diagnosed cognitive impairment. Future research will assess whether repeated assessment of DSDA may be useful for monitoring and screening cognitive fitness to drive in patients who have undergone neurosurgical treatment and whether declining scores may indicate cognitive changes in ability to drive.

Age and sex distribution of the prevalence of Barrett's esophagus found in a primary referral endoscopy center.

BACKGROUND: Both the demographics underlying the sex ratio in the prevalence of Barrett's esophagus (BE) and the status of BE without intestinal metaplasia (IM) are unclear. AIMS: To establish the demographics of histologically proven BE, IM+ and IM-, over a 15-yr period from a primary referral, endoscopy unit. PATIENTS AND METHODS: For all BE patients aged 20-89 yr, identified between 1982 and 1996, IM+ or IM-, prevalences were calculated per 100 first endoscopies. RESULTS: A total of 492 cases of BE, 320 (248 IM+) in males, 175 (127 IM+) in females were identified in 21,899 first endoscopies (10,939 males, 10,960 females). Between ages 20 and 59 yr in males and 20-79 in females, IM+, IM- and all BE prevalences rose by +/-7.36% for each additional year of age (p= 0.92) with, however, a 20-yr age shift between the sexes, resulting in a male:female OR 4.15 95% CI 2.99-5.77. A declining rate of increase in over 59 males resulted in an overall male:female OR 2.14, 95% CI 1.77-2.58. Over the age of 79 yr, BE prevalences/100 first endoscopies fell from a maximum of 5.1 in males and 3.65 in females to 3.38 and 2.53, respectively. CONCLUSION: The 4:1 sex ratio and 20-yr age shift between males and females in the prevalence of BE, both IM+ and IM-, found in younger age groups, was the main cause of the overall BE 2:1 sex ratio. The very similar demographics of IM- and IM+ BE suggest they may be two consecutive stages in the same metaplastic process.

Lifestyle factors and Barrett's esophagus.

OBJECTIVE: We aimed to investigate lifestyle factors relevant to the development of Barrett's esophagus in the United Kingdom. METHODS: At Ninewells Hospital, Dundee, Scotland, medical records of 136 Barrett's esophagus patients were examined. At Wexham Park Hospital, Slough, Southern England, 50 male and 51 female Barrett's esophagus patients were matched for sex, age, and year of diagnosis (+/- 3 yr) with uncomplicated reflux esophagitis patients. Data were abstracted for tobacco consumption, alcohol intake, and weight. In Dundee, height was also recorded and body mass index calculated. Alcohol and tobacco intake were scored for each patient. RESULTS: In Dundee there is no difference in smoking or drinking habits between men and women under and over 50 yr of age. In Slough there is little difference in drinking or smoking habits between Barrett's esophagus and reflux esophagitis patients and between their mean weights. However, of the Dundee Barrett's esophagus patients younger than 50 yr, 31% of men and 71% of women have body mass indexes over 30 (obese), versus 11% and 13%, respectively, for the general population. In those older than 50 yr, 14% of men and 19% of women have body mass indexes over 30. CONCLUSIONS: There is no difference in smoking or drinking habits in younger and older Barrett's esophagus patients, nor between those with Barrett's esophagus and reflux esophagitis. Obesity is a risk factor for Barrett's esophagus in young people only.