ORCID Profile
0000-0002-2493-6394
Current Organisation
Garvan Institute of Medical Research
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Publisher: Elsevier BV
Date: 06-2013
DOI: 10.1038/GIM.2012.154
Abstract: The generation of clinically significant genetic data during research studies raises a number of ethical issues about the feedback of this information to research participants. Little is known about research participants' experiences of this practice. This qualitative interview study investigated research participants' (n = 10) or their nominated next of kin's (relatives) (n = 15) experiences of receiving BRCA1 and BRCA2 genetic test information following participation in the Australian Ovarian Cancer Study. Interviewees had mixed responses to receiving feedback. The participants of the Australian Ovarian Cancer Study were more positive about receiving feedback, acknowledging that the genetic information may be useful for their kin. Relatives frequently described themselves as initially distressed at receiving feedback, particularly those who were unaware of the participation of their mothers in the Australian Ovarian Cancer Study. The participants of the Australian Ovarian Cancer Study and their relatives expressed an intention to disseminate the information to relatives following confirmation of the result. We suggest that research participants be encouraged to discuss their participation with family members from the outset. We also outline a number of different strategies for providing feedback to research participants and their next of kin that may lessen the immediate negative impact of receiving feedback of research results.
Publisher: American Society of Clinical Oncology (ASCO)
Date: 20-06-2022
DOI: 10.1200/JCO.21.02108
Abstract: Tubo-ovarian cancer (TOC) is a sentinel cancer for BRCA1 and BRCA2 pathogenic variants (PVs). Identification of a PV in the first member of a family at increased genetic risk (the proband) provides opportunities for cancer prevention in other at-risk family members. Although Australian testing rates are now high, PVs in patients with TOC whose diagnosis predated revised testing guidelines might have been missed. We assessed the feasibility of detecting PVs in this population to enable genetic risk reduction in relatives. In this pilot study, deceased probands were ascertained from research cohort studies, identification by a relative, and gynecologic oncology clinics. DNA was extracted from archival tissue or stored blood for panel sequencing of 10 risk-associated genes. Testing of deceased probands ascertained through clinic records was performed with a consent waiver. We identified 85 PVs in 84 of 787 (11%) probands. Familial contacts of 39 of 60 (65%) deceased probands with an identified recipient (60 of 84 71%) have received a written notification of results, with follow-up verbal contact made in 85% (33 of 39). A minority of families (n = 4) were already aware of the PV. For many (29 of 33 88%), the genetic result provided new information and referral to a genetic service was accepted in most cases (66% 19 of 29). Those who declined referral (4 of 29) were all male next of kin whose family member had died more than 10 years before. We overcame ethical and logistic challenges to demonstrate that retrospective genetic testing to identify PVs in previously untested deceased probands with TOC is feasible. Understanding reasons for a family member's decision to accept or decline a referral will be important for guiding future TRACEBACK projects.
Publisher: Wiley
Date: 11-10-2021
DOI: 10.1002/PON.5556
Publisher: Wiley
Date: 23-10-2017
DOI: 10.1111/CGE.12868
Abstract: Evidence suggests that a significant proportion of in iduals referred to cancer genetic counselling (GC) do not attend, and thus may not be engaged in adequate cancer risk management. We aimed to review the literature to better understand barriers to accessing GC and how they may be overcome. We conducted a systematic literature search for articles examining factors influencing cancer GC uptake as well as motivators and barriers to GC attendance. Factors were categorised as sociodemographic, psychosocial or clinical. The literature search identified 1413 citations, 35 of which met the inclusion criteria. GC uptake ranged from 19% to 88%. With the exceptions of education level, socioeconomic status, cancer-specific distress, personal cancer diagnosis and actual and perceived risk of cancer, support was lacking for most sociodemographic, clinical and psychosocial factors as predictors of GC uptake. Cost and logistical barriers, emotional concerns, family concerns and low perceived personal relevance were reported as important considerations for those declining GC. We conclude that there is poor understanding of GC and a lack of decision support among those referred to GC. Research into ways of providing education and support to referred in iduals will be important as the scope and availability of GC and genetic testing broaden.
Publisher: Springer Science and Business Media LLC
Date: 05-11-2019
Publisher: Springer Science and Business Media LLC
Date: 10-08-2019
Publisher: MDPI AG
Date: 07-07-2022
DOI: 10.3390/JPM12071112
Abstract: Background Research identifying and returning clinically actionable germline variants offer a new avenue of access to genetic information. The psychosocial and clinical outcomes for women who have received this ‘genome-first care’ delivering hereditary breast and ovarian cancer risk information outside of clinical genetics services are unknown. Methods: An exploratory sequential mixed-methods case-control study compared outcomes between women who did (cases group 1) and did not (controls group 2) receive clinically actionable genetic information from a research cohort in Victoria, Australia. Participants completed an online survey examining cancer risk perception and worry, and group 1 also completed distress and adaptation measures. Group 1 participants subsequently completed a semi structured interview. Results: Forty-five participants (group 1) and 96 (group 2) completed the online survey, and 31 group 1 participants were interviewed. There were no demographic differences between groups 1 and 2, although more of group 1 participants had children (p = 0.03). Group 1 reported significantly higher breast cancer risk perception (p 0.001) compared to group 2, and higher cancer worry than group 2 (p 0.001). Some group 1 participants described how receiving their genetic information heightened their cancer risk perception and exacerbated their cancer worry while waiting for risk-reducing surgery. Group 1 participants reported a MICRA mean score of 27.4 (SD 11.8, range 9–56 possible range 0–95), and an adaptation score of 2.9 (SD = 1.1). Conclusion: There were no adverse psychological outcomes amongst women who received clinically actionable germline information through a model of ‘genome-first’ care compared to those who did not. These findings support the return of clinically actionable research results to research participants.
Publisher: Wiley
Date: 18-04-2018
DOI: 10.1111/CGE.13253
Abstract: Children and young people are increasingly likely to receive information regarding inherited health risks relevant to their genetic relatives and themselves. We reviewed the literature to determine what children and young people (21 years and younger) understand about inherited conditions and their attitudes towards genetic testing. We screened 1815 abstracts to identify 20 studies representing the perspectives of 1811 children and young people between the ages of 6 and 21 years (1498 children or young people at general population-level risk from 9 studies, 313 affected/at risk from 15 studies). Children and young people at general population-level risk demonstrated a basic understanding that disease predisposition can be inherited within families. Those affected by or at risk of genetic conditions inferred their genetic status from observable, relational characteristics within their family and the results of personal genetic testing if it had occurred, but some misunderstandings of important genetic concepts were evident. Children and young people expressed interest in and a willingness to undertake personal genetic testing, but also articulated concerns about the limitations and risks of testing. Paediatric patients require developmentally-sensitive genetic counselling and support in navigating the unique landscape of their condition.
Publisher: Springer Science and Business Media LLC
Date: 18-07-2017
Publisher: Elsevier BV
Date: 04-2018
Publisher: Mary Ann Liebert Inc
Date: 12-2021
Publisher: Elsevier BV
Date: 08-2023
Publisher: Elsevier BV
Date: 09-2016
Publisher: Springer Science and Business Media LLC
Date: 26-05-2015
Publisher: Wiley
Date: 22-11-2017
DOI: 10.1007/S10897-017-0162-Z
Abstract: Genome wide association studies have identified a number of common genetic variants - single nucleotide polymorphisms (SNPs) - that combine to increase breast cancer risk. SNP profiling may enhance the accuracy of risk assessment and provides a personalized risk estimate. SNP testing for breast cancer risks may supplement other genetic tests in the future, however, before it can be implemented in the clinic we need to know how it will be perceived and received. Semi-structured qualitative interviews were conducted with 39 women who had previously had a breast cancer diagnosis and undergone BRCA1/2 testing, participated in the Variants in Practice (ViP) study and received personalized risk (SNP) profiles. Interviews explored their understanding and experiences of receiving this SNP information. Women reported feeling positive about receiving their personalized risk profile, because it: provided an explanation for their previous diagnosis of cancer, vindicated previous risk management decisions and clarified their own and other family members' risks. A small group was initially shocked to learn of the increased risk of a second primary breast cancer. This study suggests that the provision of personalized risk information about breast cancer generated by SNP profiling is understood and well received. However, a model of genetic counseling that incorporates monogenic and polygenic genetic information will need to be developed prior to clinical implementation.
Publisher: Wiley
Date: 19-01-2021
DOI: 10.1002/JGC4.1384
Abstract: Polygenic risk scores (PRS) are personalized assessments of disease risk based on the cumulative effect of common low‐risk genetic variants. PRS have been shown to accurately predict women's breast cancer risk and are likely to be incorporated into personalized breast cancer risk management programs. However, there are few studies investigating the in idual impact of receiving a breast cancer PRS. Existing studies have not demonstrated significant changes in perceived risk or risk management behaviors after receipt of polygenic risk information. The aim of this qualitative study was to explore how women with a family history of breast cancer construct breast cancer risk perceptions after receipt of a breast cancer PRS. Unaffected women with a family history of breast cancer who had not previously received genetic counseling regarding their breast cancer risk were invited to participate in this study. In‐depth, semi‐structured interviews were conducted with 20 women who attended a familial cancer clinic in the Australian states of Victoria and Tasmania. Data were analyzed using an inductive thematic approach. Women's lived experience played a significant role in the construction and maintenance of their breast cancer risk perception. Women's pre‐existing risk perceptions were informed by their family history and their knowledge that breast cancer is a multifactorial disease. Knowing that breast cancer is a multifactorial disease enabled most women to integrate genetic information with their pre‐existing notions of risk. Women reported that the information they received was consistent with their existing notions of personal risk and screening advice. Therefore, the PRS did not lead to a change in perceived risk or risk management behaviors for most women. The results of this study provide insight into how polygenic risk information is integrated with pre‐existing notions of risk, which will inform its implementation into clinical practice.
Publisher: Springer Science and Business Media LLC
Date: 24-09-2019
DOI: 10.1007/S10689-018-0104-4
Abstract: The inclusion of polygenic risk scores in breast cancer risk prediction models provides a more personalised and accurate prediction of breast cancer risk for women with and without breast cancer, who would otherwise receive negative results from traditional testing of moderate- and high-risk genes. This study aimed to develop, and pilot test a leaflet with a s le of women participating in a large prospective cohort study. The leaflet aimed to provide information about polygenic risk to assist women to decide whether or not to learn results from genomic testing for common risk variants associated with breast cancer risk. A prototype of the leaflet was developed based on published literature and with the expertise from a multidisciplinary team. The acceptability of the leaflet was assessed by self-report questionnaire among 29 women participating in the prospective cohort study. More than 80% participants stated that the leaflet was clear, informative and easy to understand and increased their understanding of polygenic risk information. While low to moderate levels of distress/worry were reported around implications of the test results for the next generation, 71% felt reassured and agreed that the information provided in the leaflet had helped them cope. Pilot-test results indicate the leaflet is acceptable to the participants and the revised leaflet can be used as an information tool for women undergoing genomic testing. This educational leaflet will become a useful information source to meet the information needs of women undergoing genomic testing.
Publisher: Cold Spring Harbor Laboratory
Date: 17-02-2023
DOI: 10.1101/2023.02.16.23286057
Abstract: Polygenic risk scores (PRS) for breast and ovarian cancer risk are increasingly available to the public through clinical research and commercial genetic testing companies. Healthcare providers frequently report limited knowledge and confidence using PRS, representing a significant barrier to evaluation and uptake of this technology. We aimed to develop and evaluate the impact of a novel online educational program on genetic healthcare providers (GHP) attitudes, confidence and knowledge using PRS for breast and ovarian cancer risk. The educational program was informed by adult learning theory and the Kolb experiential learning model. The program was comprised of two phases: i) an online module covering the theoretical aspects of PRS and ii) a facilitated virtual workshop with pre-recorded role plays and case discussions. A pre-and post-education survey was administered to evaluate the impact of the educational program on GHP attitudes, confidence, knowledge, and preparedness for using PRS. Eligible participants were GHP working in one of 12 familial cancer in Australia registered to recruit patients for a breast and ovarian cancer PRS clinical trial and completed the education program. 124 GHP completed the PRS education, of whom 80 (64%) and 67 (41%) completed the pre- and post-evaluation survey, respectively. Pre-education, GHP reported limited experience, confidence and preparedness using PRS. GHP frequently recognized potential benefits to PRS, most commonly that this information could improve access to tailored screening (rated as beneficial/very beneficial by 92% of GHP pre-education). Completion of the education program was associated with significantly improved attitudes (p= .001), confidence (p= .001), knowledge of (p= .001) and preparedness (p= .001) using PRS. Most GHP indicated the education program entirely met their learning needs (73%) and felt the content was entirely relevant to their clinical practice (88%). GHP identified further PRS implementation issues including limited funding models, ersity issues, need for clinical guidelines and ongoing updates given the rapid pace of PRS research. Delivery of a novel education program can improve GHP attitudes, confidence, knowledge, and preparedness using PRS. Careful consideration of healthcare providers’ learning needs is required to support PRS research and clinical translation.
Publisher: Wiley
Date: 17-02-2018
DOI: 10.1007/S10897-018-0223-Y
Abstract: Germline genomic testing is increasingly used in research to identify genetic causes of disease, including cancer. However, there is evidence that in iduals who are notified of clinically actionable research findings have difficulty making informed decisions regarding uptake of genetic counseling for these findings. This study aimed to produce and pilot test a decision aid to assist participants in genomic research studies who are notified of clinically actionable research findings to make informed choices regarding uptake of genetic counseling. Development was guided by published literature, the International Patient Decision Aid Standards, and the expertise of a steering committee of clinicians, researchers, and consumers. Decision aid acceptability was assessed by self-report questionnaire. All 19 participants stated that the decision aid was easy to read, clearly presented, increased their understanding of the implications of taking up research findings, and would be helpful in decision-making. While low to moderate levels of distress/worry were reported after reading the booklet, a majority of participants also reported feeling reassured. All participants would recommend the booklet to others considering uptake of clinically actionable research findings. Results indicate the decision aid is acceptable to the target audience, with potential as a useful decision support tool for genomic research participants.
Publisher: American Society of Clinical Oncology (ASCO)
Date: 20-03-2016
Publisher: Springer Science and Business Media LLC
Date: 25-01-2017
DOI: 10.1007/S10689-016-9964-7
Abstract: Germline TP53 mutation carriers are at high risk of developing a range of cancers. Effective cancer risk management is an important issue for these in iduals. We assessed the psychosocial impact in TP53 mutation carriers of WB-MRI screening as part of the Surveillance in Multi-Organ Cancer (SMOC+) protocol, measuring their unmet needs, anxiety and depression levels as well as cancer worry using psychological questionnaires and in-depth interviews about their experiences of screening. We present preliminary psychosocial findings from 17 participants during their first 12 months on the trial. We found a significant reduction in participants' mean anxiety from baseline to two weeks post WB-MRI (1.2, 95% CI 0.17 to 2.23 p = 0.025), indicative of some benefit. Emerging qualitative themes show most participants are emotionally supported and contained by the screening program and are motivated by their immediate concern about staying alive, despite being informed about the current lack of evidence around efficacy of screening for people with TP53 mutations in terms of cancer morbidity or mortality. For those that do gain emotional reassurance from participating in the screening study, feelings of abandonment by the research team are a risk when the study ends. For others, screening was seen as a burden, consistent with the relentless nature of cancer risk associated with Li-Fraumeni syndrome, though these patients still declared they wished to participate due to their concern with staying alive. Families with TP53 mutations need ongoing support due to the impact on the whole family system. These findings suggest a comprehensive multi-organ screening program for people with TP53 mutations provides psychological benefit independent of an impact on cancer morbidity and mortality associated with the syndrome. The benefits of a multi-organ screening program will be greater still if the screening tests additionally reduce the cancer morbidity and mortality associated with the syndrome. These findings may also inform the care of in iduals and families with other multi-organ cancer predisposition syndromes.
Publisher: Wiley
Date: 25-12-2020
DOI: 10.1111/CGE.13687
Abstract: Polygenic risk scores (PRSs) are increasingly being implemented to assess breast cancer risk. This study aimed to assess and determine factors associated with uptake of PRS among women at increased risk of breast cancer for whom genetic testing to date had been uninformative. Participants were recruited from the Variants in Practice study from which breast cancer PRS had been calculated. Four hundred women were notified by letter of the availability of their PRS and invited to complete a self-administered survey comprising several validated scales. Considering non-participants, uptake of PRS was between 61.8% and 42.1%. Multivariate logistic regression identified that women were more likely to receive their PRS if they reported greater benefits (odds ratio [OR] = 1.17, P = .011) and fewer barriers to receiving their PRS (OR = 0.80, P = .007), had completed higher level education (OR = 3.32, P = .004), and did not have daughters (0.29, P = .006). Uptake of breast cancer PRS varied according to several testing- and patient-related factors. Knowledge of these factors will facilitate the implementation of polygenic testing in clinical practice and support informed decision making by patients.
Publisher: Springer Science and Business Media LLC
Date: 05-04-2018
Publisher: Springer Science and Business Media LLC
Date: 22-09-2021
Publisher: Elsevier BV
Date: 2022
DOI: 10.1016/J.GIM.2022.09.008
Abstract: This study aimed to systematically review current models for communicating polygenic scores (PGS) and psycho-behavioral outcomes of receiving PGSs. Original research on communicating PGSs and reporting on psycho-behavioral outcomes was included. Search terms were applied to 5 databases and were limited by date (2009-2021). In total, 28 articles, representing 17 studies in several disease settings were identified. There was limited consistency in PGS communication and evaluation/reporting of outcomes. Most studies (n = 14) presented risk in multiple ways (ie, numerically, verbally, and/or visually). Three studies provided personalized lifestyle advice and additional resources. Only 1 of 17 studies reported using behavior change theory to inform their PGS intervention. A total of 8 studies found no evidence of long-term negative psychosocial effects up to 12 months post result. Of 14 studies reporting on behavior, 9 found at least 1 favorable change after PGS receipt. When stratified by risk, 7 out of 9 studies found high PGS was associated with favorable changes including lifestyle, medication, and screening. Low-risk PGS was not associated with maladaptive behaviors (n = 4). PGS has the potential to benefit health behavior. High variability among studies emphasizes the need for developing standardized guidelines for communicating PGSs and evaluating psycho-behavioral outcomes. Our findings call for development of best communication practices and evidence-based interventions informed by behavior change theories.
Publisher: Springer Science and Business Media LLC
Date: 08-04-2019
Publisher: Springer Science and Business Media LLC
Date: 17-02-2020
DOI: 10.1186/S13058-020-01260-3
Abstract: Polygenic factors are estimated to account for an additional 18% of the familial relative risk of breast cancer, with those at the highest level of polygenic risk distribution having a least a twofold increased risk of the disease. Polygenic testing promises to revolutionize health services by providing personalized risk assessments to women at high-risk of breast cancer and within population breast screening programs. However, implementation of polygenic testing needs to be considered in light of its current limitations, such as limited risk prediction for women of non-European ancestry. This article aims to provide a comprehensive review of the evidence for polygenic breast cancer risk, including the discovery of variants associated with breast cancer at the genome-wide level of significance and the use of polygenic risk scores to estimate breast cancer risk. We also review the different applications of this technology including testing of women from high-risk breast cancer families with uninformative genetic testing results, as a moderator of monogenic risk, and for population screening programs. Finally, a potential framework for introducing testing for polygenic risk in familial cancer clinics and the potential challenges with implementing this technology in clinical practice are discussed.
Publisher: Wiley
Date: 05-04-2022
DOI: 10.1111/IMJ.15719
Abstract: Despite healthcare professionals (HCP) endorsing the clinical utility of pharmacogenomics testing, use in clinical practice is limited. To assess HCP' perceptions of pharmacogenomic testing and identify barriers to implementation. HCP involved in prescribing decisions at three hospitals in Sydney, Australia, were invited to participate. The online survey assessed perceptions of pharmacogenomic testing, including: (i) demographic and practice variables (ii) use, knowledge and confidence (iii) perceived benefits (iv) barriers to implementation and (v) operational and/or system changes and personnel required to implement on site. HCP were predominantly medical practitioners (75/107) and pharmacists (25/107). HCP perceived pharmacogenomic testing was beneficial to identify reasons for drug intolerance (85/95) and risk of side‐effects (86/95). Although testing was considered relevant to their practice (79/100), few HCP (23/100) reported past or intended future use (26/100). Few HCP reported confidence in their ability to identify indications for pharmacogenomic testing (14/107), order tests (19/106) and communicate results with patients (16/107). Lack of clinical practice guidelines (62/79) and knowledge (54/77) were identified as major barriers to implementation of pharmacogenomics. Comprehensive reimbursement for testing and clinical practice guidelines, alongside models‐of‐care involving multidisciplinary teams and local clinical ch ions were suggested as strategies to facilitate implementation of pharmacogenomic testing into practice. Pharmacogenomic testing was considered important to guide drug selection and dosing decisions. However, limited knowledge, low confidence and an absence of guidelines impede the use of pharmacogenomic testing. Establishment of local resources including multidisciplinary models‐of‐care was suggested to facilitate implementation of pharmacogenomics.
Publisher: Springer Science and Business Media LLC
Date: 23-04-2018
Publisher: Wiley
Date: 10-04-2019
DOI: 10.1002/JGC4.1110
Abstract: The practice of recontacting patients to provide new health information is becoming increasingly common in clinical genetics, despite the limited research to evidence the patient experience. We explored how men with Lynch Syndrome (LS) understand and experience being recontacted about a potential increased risk of prostate cancer. Sixteen men with LS (Meanage 51 years) were recruited from an Australian screening study to undergo a semi-structured interview. A modified grounded theory approach was used to guide data collection and thematic analysis. Qualitative coding was shared by the research team to triangulate analysis. The practice of recontact was viewed by participants as acceptable and was associated with minimal emotional distress. The majority of men understood that they may be above population risk of prostate cancer, although evidence was still emerging. Men reported high engagement with personal and familial health, including regular screening practices and familial risk communication. Findings suggest that men's carrier status and beliefs about the actionability of the new cancer risk information influence their response to recontact. Recontact practices that include the offer of risk management strategies may lead to improved patient outcomes (e.g., reduced cancer worry and increased health engagement), if perceived as valuable by recipients.
Publisher: Future Medicine Ltd
Date: 2018
Abstract: Aim: To compare Australian and French perceptions of genetics and preferences regarding the return of incidental findings. Methods: Participants from the International Sarcoma Kindred Study received a survey at intake to cancer referral units. A total of 1442 Australian and 479 French in iduals affected by sarcoma and their unaffected family members responded to four hypothetical scenarios depicting hereditary conditions of varying treatability and severity. Results: Australians’ preference for the return of incidental findings was consistently higher than French for all scenarios. Country group differences were significant for two scenarios when in idual characteristics were controlled through multivariable analyses. Conclusion: Findings support the need for guidelines that are sensitive to sociocultural context and promote autonomous decision-making.
Publisher: Springer Science and Business Media LLC
Date: 04-10-2022
Publisher: Springer Science and Business Media LLC
Date: 20-05-2020
Publisher: Springer Science and Business Media LLC
Date: 06-05-2021
No related grants have been discovered for Mary-Anne Young.