ORCID Profile
0000-0003-0918-7820
Current Organisations
Garvan Institute of Medical Research
,
Prince of Wales Hospital Cancer Services
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Publisher: Springer Science and Business Media LLC
Date: 23-10-2019
DOI: 10.1186/S13053-019-0129-1
Abstract: Pancreatic cancer (PC) is an aggressive disease with a dismal 5-year survival rate. Surveillance of high-risk in iduals is hoped to improve survival outcomes by detection of precursor lesions or early-stage malignancy. 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. We describe the Australian PC screening program design and recruitment strategy and the results of the first 102 in iduals who have completed at least one-year of follow-up. Seventy-nine participants met the FPC criteria (≥ two first-degree relatives affected), 22 in iduals 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. Participants reported multiple benefits of genetic counselling and testing but continue to seek greater clarification about their in idual 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.
Publisher: Wiley
Date: 15-12-2018
DOI: 10.1002/JGC4.1053
Abstract: Facilitating informed decision-making regarding genetic testing is a core component of genetic counseling practice. Internationally, genetic testing is shifting toward gene panels and genomic testing, including whole exome and whole genome sequencing to improve diagnostic yield and cost-effectiveness. This study explored genetics practitioners' current experience with panels and genomic tests and the associated evolution of genetic counseling practice. Genetics practitioners with genomic testing experience, were purposively invited to participate in a semi-structured telephone interview and to snowball the invitation to colleagues. Interviews conducted with participants residing in Australia (n = 9) and the UK (n = 5) were transcribed and analyzed using an inductive thematic approach. Three themes emerged: (a) Role delineation: current roles, future roles, and the influence of increasing complexity (b) The evolving spectrum of practice: blurred boundaries between research and clinical services impact on facilitation of informed consent and return of results strategies and (c) Policy and governance needs: equality of access achieving consistent variant interpretation, reporting, and responsibility for review managing incidental findings and professional regulation for Australian genetic counselors. These exploratory data highlight that genetic counseling practice and the essential role of facilitating informed consent are evolving but remain patient-centered, with core skills underpinning practitioners' capacity to adapt.
Publisher: Springer Science and Business Media LLC
Date: 16-08-2021
DOI: 10.1186/S13053-021-00190-1
Abstract: The Australian Pancreatic Cancer Screening Program (APCSP) offers endoscopic ultrasound surveillance for in iduals at increased risk of pancreatic ductal adenocarcinoma (PDAC) with all participants requiring assessment by a Familial Cancer Service before or after study enrolment. In iduals aged 40–80 years (or 10 years younger than the earliest PDAC diagnosis) were eligible for APCSP study entry if they had 1) ≥ two blood relatives with PDAC (at least one of first-degree association) 2) a clinical or genetic diagnosis of Hereditary Pancreatitis or Peutz-Jeghers syndrome irrespective of PDAC family history or 3) a known PDAC predisposition germline pathogenic variant ( BRCA2, PALB2, CDKN2A, or Lynch syndrome) with ≥one PDAC-affected first- or second-degree relative. Retrospective medical record review was conducted for APCSP participants enrolled at the participating Australian hospitals from January 2011 to December 2019. We audited the genetic investigations offered by multiple Familial Cancer Services who assessed APCSP participants according to national guidelines, local clinical protocol and/or the availability of external research-funded testing, and the subsequent findings. Descriptive statistical analysis was performed using Microsoft Excel. Of 189 kindreds (285 participants), 50 kindreds (71 participants) had a known germline pathogenic variant at enrolment ( BRCA2 n = 35, PALB2 n = 6, CDKN2A n = 3, STK11 n = 3, PRSS1 n = 2, MLH1 n = 1). Forty-eight of 136 (35%) kindreds with no known germline pathogenic variant were offered mutation analysis 89% was clinic-funded, with increasing self-funded testing since 2016. The relatively low rates of genetic testing performed reflects initial strict criteria for clinic-funded genetic testing. New germline pathogenic variants were detected in five kindreds (10.4%) after study enrolment ( BRCA2 n = 3 kindreds, PALB2 n = 1, CDKN2A n = 1). Of note, only eight kindreds were reassessed by a Familial Cancer Service since enrolment, with a further 21 kindreds identified as being suitable for reassessment. Germline pathogenic variants associated with PDAC were seen in 29.1% of our high-risk cohort (55/189 kindreds 82/285 participants). Importantly, 10.4% of kindreds offered genetic testing were newly identified as having germline pathogenic variants, with majority being BRCA2 . As genetic testing standards evolve rapidly in PDAC, 5-yearly reassessment of high-risk in iduals by Familial Cancer Services is warranted.
No related grants have been discovered for Tanya Dwarte.