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Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program.

ABSTRACT: Background:Pancreatic cancer (PC) is an aggressive disease with a dismal 5-year survival rate. Surveillance of high-risk individuals is hoped to improve survival outcomes by detection of precursor lesions or early-stage malignancy. Methods:Since 2011, a national high-risk cohort recruited through St Vincent's Hospital, Sydney, has undergone prospective PC screening incorporating annual endoscopic ultrasound, formal genetic counselling and mutation analysis as appropriate. PancPRO, a Bayesian PC risk assessment model, was used to estimate 5-year and lifetime PC risks for familial pancreatic cancer (FPC) participants and this was compared to their perceived chance of pancreatic and other cancers. Genetic counselling guidelines were developed to improve consistency. Follow-up questionnaires were used to assess the role of genetic counselling and testing. Results:We describe the Australian PC screening program design and recruitment strategy and the results of the first 102 individuals who have completed at least one-year of follow-up. Seventy-nine participants met the FPC criteria (? two first-degree relatives affected), 22 individuals had both a BRCA2 pathogenic variant and a close relative with PC and one had a clinical diagnosis of Peutz-Jeghers syndrome. Participants reported a high perceived chance of developing PC regardless of their genetic testing status. PancPRO reported FPC participants' mean 5-year and lifetime PC risks as 1.81% (range 0.2-3.2%) and 10.17% (range 2.4-14.4%), respectively. Participants' perceived PC chance did not correlate with their PancPRO 5-year (r?=?-?0.17, p?=?0.128) and lifetime PC risks (r?=?0.19, p?=?0.091). Two-thirds felt that current genetic testing would help them, and 91% of tested participants were glad to have undergone genetic testing. Overall, 79% of participants found genetic counselling to be helpful, and 88% reported they would recommend counselling to their relatives. Conclusions:Participants reported multiple benefits of genetic counselling and testing but continue to seek greater clarification about their individual PC risk. Extension of PancPRO is required to enable personalised PC risk assessment for all high-risk sub-groups. More detailed discussion of PC risk for BRCA2 pathogenic variant carriers, providing a written summary in all cases and a plan for genetics review were identified as areas for improvement.

SUBMITTER: Dwarte T

PROVIDER: S-EPMC6813120 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program.

Dwarte Tanya T McKay Skye S Johns Amber A Tucker Katherine K Spigelman Allan D AD Williams David D Stoita Alina A

Hereditary cancer in clinical practice 20191023

<h4>Background</h4>Pancreatic cancer (PC) is an aggressive disease with a dismal 5-year survival rate. Surveillance of high-risk individuals is hoped to improve survival outcomes by detection of precursor lesions or early-stage malignancy.<h4>Methods</h4>Since 2011, a national high-risk cohort recruited through St Vincent's Hospital, Sydney, has undergone prospective PC screening incorporating annual endoscopic ultrasound, formal genetic counselling and mutation analysis as appropriate. PancPRO, ...[more]

PMID: 31666883

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Project description:Scientific reports suggest that women at risk for familial breast cancer may benefit from prophylactic mastectomy. However, few data are available about how women decide upon this clinical option, and in particular, what role an objective risk assessment plays in this. The purpose of the present study is to assess whether this objective risk information provided in genetic counselling affects the intention for prophylactic mastectomy. Additionally, the (mediating) effects of breast cancer worry and perceived risk are investigated. A total of 241 women completed a questionnaire before and after receiving information about their familial lifetime breast cancer risk in a genetic counselling session. Path analysis showed that the objective risk information had a corrective effect on perceived risk (beta=0.38; P=0.0001), whereas the amount of breast cancer worry was not influenced by the counselling session. The objective risk information did not directly affect the intention for prophylactic mastectomy. The intention was influenced by perceived risk after counselling (beta=0.23; P=0.002), and by the precounselling levels of perceived risk (beta=0.27; P=0.00025) and breast cancer worry (beta=0.32; P=0.0001), that is, higher levels of perceived risk and breast cancer worry imply a stronger intention for prophylactic mastectomy. A personal history of breast cancer did not directly influence the intention for prophylactic mastectomy, but affected women who had undergone a mastectomy as surgical treatment were more positively inclined to have a prophylactic mastectomy than women who had had breast-conserving therapy. The impact of objective risk information on the intention for prophylactic mastectomy is limited and is mediated by perceived risk. Important determinants of the intention for prophylactic mastectomy were precounselling levels of breast cancer worry and perceived risk, suggesting that genetic counselling is only one event in the entire process of decision making. Therefore, interventions aimed at improving decision making on prophylactic mastectomy should explicitly address precounselling factors, such as personal beliefs and the psychological impact of the family medical history.

Project description:ImportanceThe US Preventive Services Task Force recommends that individuals at high risk for lung cancer consider benefits and harms before pursuing lung cancer screening. Medical centers develop websites for their lung cancer screening programs, but to date little is known about the websites' portrayal of benefits and harms or what next steps they recommend for individuals considering screening.ObjectiveTo assess the presentation of potential benefits and harms and recommended next steps on lung cancer screening program websites.Design, setting, and participantsCross-sectional content analysis of 162 lung cancer screening program websites of academic medical centers (n = 81) and state-matched community medical centers (n = 81) that were randomly selected from American College of Radiology lung cancer screening-designated centers was conducted. The study was performed from December 1, 2018, to January 31, 2019.Main outcomes and measuresWebsite presentation of screening-associated benefits and harms was the primary outcome. Benefit was defined as any description related to the potential reduction in lung cancer mortality. Harms were based on the US Preventive Services Task Force recommendations and included false positives, false negatives, overdiagnosis, radiation exposure, and incidental findings. The secondary outcome was next steps that are recommended by websites.ResultsOverall, the 162 lung cancer screening program websites described the potential benefits more frequently than they described any potential harms (159 [98%] vs 78 [48%], P < .01). False-positive findings were the most frequently reported (72 [44%]) potential harm. Community centers were less likely than academic centers to report any potential harm (32 [40%] vs 46 [57%], P = .03), potential harm from radiation (20 [25%] vs 35 [43%], P = .01), and overdiagnosis (0% vs 11 [14%], P < .01). One hundred nineteen websites (73%) did not explicitly recommend that individuals personally consider the potential benefits and harms of screening; community centers were less likely than academic centers to give this recommendation (15 [19%] vs 28 [35%], P = .02). Most institutions (157 [97%]) listed follow-up steps for screening, but few institutions (35 [22%]) recommended that individuals discuss benefits and harms with a health care professional.Conclusions and relevanceInformation on public-facing websites of US lung cancer screening programs appears to lack balance with respect to portrayal of potential benefits and harms of screening. Important harms, such as overdiagnosis, were commonly ignored in the sites evaluated, and most of the centers did not explicitly guide individuals toward a guideline-recommended, shared decision-making discussion of harms and benefits.

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Project description:New methods are needed to improve health behaviors, such as adherence to colorectal cancer (CRC) screening. Personalized genetic information to guide medical decisions is increasingly available. Whether such information motivates behavioral change is unknown.To determine whether individualized genetic and environmental risk assessment (GERA) of CRC susceptibility improves adherence to screening in average-risk persons.2-group, randomized, controlled trial. (ClinicalTrials.gov: NCT0087360).4 medical school-affiliated primary care practices.783 participants at average risk for CRC who were not adherent to screening at study entry.Participants were randomly assigned to usual care or GERA, which evaluated methylenetetrahydrofolate reductase polymorphisms and serum folate levels. On the basis of prespecified combinations of polymorphisms and serum folate levels, GERA recipients were told that they were at elevated or average risk for CRC.The primary outcome was CRC screening within 6 months of study entry.Overall screening rates for CRC did not statistically significant differ between the usual care (35.7%) and GERA (33.1%) groups. After adjustment for baseline participant factors, the odds ratio for screening completion for GERA versus usual care was 0.88 (95% CI, 0.64 to 1.22). Within the GERA group, screening rates did not significantly differ between average-risk (38.1%) and elevated-risk (26.9%) participants. Odds ratios for elevated- versus average-risk participants remained nonsignificant after adjustment for covariates (odds ratio, 0.75 [CI, 0.39 to 1.42]).Only 1 personalized genetic and environmental interaction and 1 health behavior (CRC screening) were assessed.In average-risk persons, CRC screening uptake was not positively associated with feedback from a single personalized GERA. Additional studies will be required to evaluate whether other approaches to providing GERA affect screening utilization differently. These findings raise concern about the effectiveness of moderately predictive assessment of genetic risk to promote favorable health care behavior.National Institutes of Health.

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Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program.

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Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program.

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