ORCID Profile
0000-0002-1529-3833
Current Organisation
Garvan Institute of Medical Research
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Publisher: Springer Science and Business Media LLC
Date: 22-09-2021
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: Hindawi Limited
Date: 16-01-2018
DOI: 10.1111/ECC.12820
Abstract: Clinical trials of adjuvant endocrine therapy in women with early breast cancer have consistently reported that genitourinary symptoms are common. However, little is known about women's experiences of genitourinary symptoms, their views about the symptoms and how they impact on their lives. The aim of this study was to explore knowledge, attitudes and experiences of genitourinary symptoms among women receiving adjuvant endocrine therapy for early breast cancer. Thirty-two semi-structured interviews were conducted and subjected to a rigorous qualitative analysis. Genitourinary symptoms were commonly reported to negatively impact on personal, social and physical activities, were often attributed to anxiety and stress and were a source of embarrassment. Women also commented on the limited information available or provided regarding the potential genitourinary adverse effects of adjuvant endocrine therapy. There was a general lack of awareness that their symptoms could be associated with or exacerbated by adjuvant endocrine therapy. Women indicated a preference to receive information and advice about potential management options from either their general practitioner or specialist. These findings underscore the importance of improving communication and increasing awareness among both clinicians and patients about the potential impact of adjuvant endocrine therapy on genitourinary symptoms.
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: Elsevier BV
Date: 08-2023
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: Wiley
Date: 25-09-2015
DOI: 10.1002/PD.4493
Publisher: Springer Science and Business Media LLC
Date: 09-12-2021
DOI: 10.1038/S41523-021-00360-3
Abstract: Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently required. Most prior research has been based on women selected for high-risk features and more data is needed to make inference about breast cancer risk for women unselected for family history, an important consideration of population screening. We tested 1464 women diagnosed with breast cancer and 862 age-matched controls participating in the Australian Breast Cancer Family Study (ABCFS), and 6549 healthy, older Australian women enroled in the ASPirin in Reducing Events in the Elderly (ASPREE) study for rare germline variants using a 24-gene-panel. Odds ratios (ORs) were estimated using unconditional logistic regression adjusted for age and other potential confounders. We identified pathogenic variants in 11.1% of the ABCFS cases, 3.7% of the ABCFS controls and 2.2% of the ASPREE (control) participants. The estimated breast cancer OR [95% confidence interval] was 5.3 [2.1–16.2] for BRCA1 , 4.0 [1.9–9.1] for BRCA2 , 3.4 [1.4–8.4] for ATM and 4.3 [1.0–17.0] for PALB2 . Our findings provide a population-based perspective to gene-panel testing for breast cancer predisposition and opportunities to improve predictors for identifying women who carry pathogenic variants in breast cancer predisposition genes.
Publisher: Springer Science and Business Media LLC
Date: 04-10-2022
Publisher: Springer Science and Business Media LLC
Date: 11-09-2018
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Amanda Willis.