I’m leading the establishment of a Master of Genetic Counselling at UTS in Sydney using co-design principles and engaging the profession, innovative learning designers and other key stakeholders in the program development. We welcomed the inaugural cohort of students in February 2019.
During 2017 to present I have been an active member in the working group that drove the application for professional regulation for genetic counsellors in Australia and Aotearoa New Zealand. Implementation is now underway and I am a member of the Implementation Committee.
Prior to moving to UTS, I was a Senior Genetic Counsellor in Wellington, Aotearoa New Zealand. I’ve held leadership roles in the Australasian Society of Genetic Counsellors and the Human Genetics Society of Australasia, with a particular focus on the education and certification of genetic counsellors.
Professional Leadership and Memberships
- Member, HGSA Implementation for Genetic Counsellor Regulation, Sept 2018 – ongoing
- Honorary Secretary, Human Genetics Society of Australasia, August 2016-August 2018
- Member, HGSA Professional Issues for Genetic Counsellors Working Group, June 2017-Sept2018
- Chair of the Australasian Society of Genetic Counsellors, August 2014-August 2016
- Chair of HGSA panel to accredit Masters of Genetic Counselling programs, 2013
- Member Health Workforce NZ Science and Technical Workforces Working Group, October 2012-2014
- Chair, Oversight Committee, Human Genetics Society of Australasia Board of Censors for Genetic Counselling Committee (2008-2010)
- Chair of the Human Genetics Society of Australasia Board of Censors for Genetic Counselling (July 2008-October 2011; Board member until 2013)
Can supervise: YES
- Online delivery of genetic and genomic education
- Co-design of curricula
- Models of genetic counselling
- Experiences of genetic counselling and genetic testing
Crook, A, McEwen, A, Fifita, JA, Zhang, K, Kwok, JB, Halliday, G, Blair, IP & Rowe, DB 2019, 'The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling.', Amyotrophic lateral sclerosis & frontotemporal degeneration, vol. 20, no. 5-6, pp. 310-316.View/Download from: UTS OPUS or Publisher's site
C9orf72 hexanucleotide repeat expansions are the most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Genetic testing for C9orf72 expansions in patients with ALS and/or FTD and their relatives has become increasingly available since hexanucleotide repeat expansions were first reported in 2011. The repeat number is highly variable and the threshold at which repeat size leads to neurodegeneration remains unknown. We present the case of an ALS patient who underwent genetic testing through our Motor Neurone Disease Clinic. We highlight current limitations to analysing and interpreting C9orf72 expansion test results and describe how this resulted in discordant reports of pathogenicity between testing laboratories that confounded the genetic counselling process. We conclude that patients with ALS or FTD and their at-risk family members, need to be adequately counselled about the limitations of current knowledge to ensure they are making informed decisions about genetic testing for C9orf72. Greater collaboration between clinicians, testing laboratories and researchers is required to ensure risks to patients and their families are minimised.
Nisselle, A, Martyn, M, Jordan, H, Kaunein, N, McEwen, A, Patel, C, Terrill, B, Bishop, M, Metcalfe, S & Gaff, C 2019, 'Ensuring Best Practice in Genomic Education and Evaluation: A Program Logic Approach.', Frontiers in genetics, vol. 10.View/Download from: UTS OPUS or Publisher's site
Targeted genomic education and training of professionals have been identified as core components of strategies and implementation plans for the use of genomics in health care systems. Education needs to be effective and support the sustained and appropriate use of genomics in health care. Evaluation of education programs to identify effectiveness is challenging. Furthermore, those responsible for development and delivery are not necessarily trained in education and/or evaluation. Program logic models have been used to support the development and evaluation of education programs by articulating a logical explanation as to how a program intends to produce the desired outcomes. These are highly relevant to genomic education programs, but do not appear to have been widely used to date. To assist those developing and evaluating genomic education programs, and as a first step towards enabling identification of effective genomic education approaches, we developed a consensus program logic model for genomic education. We drew on existing literature and a co-design process with 24 international genomic education and evaluation experts to develop the model. The general applicability of the model to the development of programs was tested by program convenors across four diverse settings. Conveners reported on the utility and relevance of the logic model across development, delivery and evaluation. As a whole, their feedback suggests that the model is flexible and adaptive across university award programs, competency development and continuing professional development activities. We discuss this program logic model as a potential best practice mechanism for developing genomic education, and to support development of an evaluation framework and consistent standards to evaluate and report genomic education program outcomes and impacts.
Taylor, S, Rodrigues, M, Poke, G, Wake, S & McEwen, A 2019, 'Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?', Journal of Genetic Counseling, vol. 28, no. 5, pp. 1029-1041.View/Download from: Publisher's site
© 2019 National Society of Genetic Counselors Family communication about genetic information enables informed medical and reproductive decision–making. The literature suggests that a significant proportion of genetically at-risk family members remain uninformed about genetic risk information as a result of non-disclosure. This study explored the experiences of New Zealand families communicating about a diagnosis of type 1 myotonic dystrophy (DM1). Eligible individuals were identified and recruited from the New Zealand (NZ) MD Prev study, a nationwide study which aimed to determine the prevalence, impact, and costs of genetic muscle disorders across the lifespan. Twelve qualitative semi-structured interviews were conducted with 17 participants. The findings demonstrate diversity among and within families, with several distinct family narratives described. Most participants reported a motivation to tell relatives about their diagnosis to promote autonomy. Women were pivotal throughout communication processes and this was often tied to the concept of maternal responsibility and a desire to promote relatives’ reproductive autonomy. The diagnosis of DM1 and the subsequent family communication decisions altered relationships for many, with both positive and negative impacts described. The findings demonstrate that individuals require time to explore the impact of a diagnosis of DM1 on self, family and intimate partner relationships to anticipate unique communication challenges. Genetic counselors can use these findings to inform their approach to counseling families with DM1. Longitudinal genetic counseling may be beneficial as a way to provide individuals with life stage specific support as they communicate with their relatives about a diagnosis of DM1.
Amor, DJ, Kerr, A, Somanathan, N, McEwen, A, Tome, M, Hodgson, J & Lewis, S 2018, 'Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors.', Reproductive Health, vol. 15, no. 26, pp. 1-10.View/Download from: UTS OPUS or Publisher's site
Gamete and embryo donors undergo genetic screening procedures in order to maximise the health of donor-conceived offspring. In the era of genomic medicine, expanded genetic screening may be offered to donors for the purpose of avoiding transmission of harmful genetic mutations. The objective of this study was to explore the attitudes of donors and recipients toward the expanded genetic screening of donors.Qualitative interview study with thematic analysis, undertaken in a tertiary fertility centre. Semi-structured in-depth qualitative interviews were conducted with eleven recipients and nine donors from three different cohorts (sperm, egg and embryo donors/recipients).Donors and recipients acknowledged the importance of genetic information and were comfortable with the existing level of genetic screening of donors. Recipients recognised some potential benefits of expanded genetic screening of donors; however both recipients and donors were apprehensive about extended genomic technologies, with concerns about how this information would be used and the ethics of genetic selectivity.Participants in donor programs support some level of genetic screening of donors, but are wary of expanding genetic screening beyond current levels.
Collis, S, Gaff, C, Wake, S & McEwen, A 2018, 'Genetic Counsellors and Private Practice: Professional Turbulence and Common Values', Journal of Genetic Counseling, vol. 27, no. 4, pp. 782-791.View/Download from: UTS OPUS or Publisher's site
© 2017 National Society of Genetic Counselors, Inc. Genetic counsellors face tensions between past and future identities: between established values and goals, and a broadening scope of settings and activities. This study examines the advent of genetic counsellors in private practice in Australia and New Zealand from the perspectives of the small numbers working in this sector and those who have only worked in public practice. Semi-structured interviews were conducted with 16 genetic counsellors who had experience in private practice, and 14 genetic counsellors without private sector experience. Results demonstrated that circumstantial and personal factors can mitigate the challenges experienced and the amount of support desired by those who had established a private practice, and those who were employed by private companies. Notably, most participants with private sector experience perceived themselves to be viewed negatively by other genetic counsellors. Most participants without private sector experience expressed concern that the challenges they believed genetic counsellors face in private practice may impact service quality, but wished to address such concerns by providing appropriate support. Together, our results reinforce that participants in private and public sectors are strong advocates for peer support, multidisciplinary team work, and professional development. These core values, and seeking understanding of different circumstances and support needs, will enable genetic counsellors in different sectors to move forward together. Our results suggest supports that may be acted upon by members of the profession, professional groups, and training programs, in Australia, New Zealand, and overseas.
Eastwood, A, Webster, D, Taylor, J, Mackay, R, McEwen, A, Sullivan, J, Pope-Couston, R & Stone, P 2016, 'Antenatal screening for aneuploidy-surveying the current situation and planning for non-invasive prenatal diagnosis in New Zealand', New Zealand Medical Journal, vol. 129, no. 1429, pp. 57-63.
© NZMA. AIMS: To gauge clinical opinion about the current system and possible changes as well as providing a forum for education about Non-Invasive Prenatal Testing (NIPT). METHODS: A series of workshops for doctors and midwives, supported by the National Screening Unit of the Ministry of Health and the Royal Australian and New Zealand College of Obstetricians and Gynaecologists, were held in the main centres of New Zealand. Following a brief education session, a structured evaluation of current screening and future possibilities was undertaken by questionnaire. RESULTS: One hundred and eight maternity carers participated in 5 workshops. Over 40% identified barriers to current screening. More than 60% would support NIPT in the first trimester. The majority of carers provided their own counselling support for women. CONCLUSIONS: The survey has shown general enthusiasm for the introduction of publically funded NIPT into prenatal screening in New Zealand. Barriers to utilisation of the current system have been identified and enhancements to screening performance with guidelines around conditions to be screened for would be supported.
Winter, H & Mcewen, A 2012, 'Cowden syndrome: Presenting as advanced breast cancer in a young woman with macrocephaly', Internal Medicine Journal, vol. 42, no. 10, pp. 1160-1161.View/Download from: Publisher's site
Harper, SJ, McEwen, AR & Dennett, ER 2010, 'Immunohistochemical testing for colon cancer - What do New Zealand surgeons know?', New Zealand Medical Journal, vol. 123, no. 1325, pp. 35-40.
Aim: 8-12% of colorectal cancers are associated with genetic syndromes. The most common of these is Lynch syndrome (also known as Hereditary Non-Polyposis Colorectal Cancer). Clinical criteria (Besthesda criteria) exist that can be used to identify colorectal cancer patients who may benefit from immunohistochemical screening of their tumour for Lynch syndrome. Treating surgeons need to know these criteria in order to request appropriate testing. The aim of this study was to assess the knowledge of New Zealand surgeons about the Bethesda criteria. Methods: We conducted a postal survey of all New Zealand General Surgical Fellows of the Royal Australasian College of Surgeons. Results: Of the surgeons returning surveys 88% knew screening using immunohistochemistry was available; 7% would not refer an abnormal result to a genetic service. Results of the practice based questions showed only 45% of respondents knew that a colorectal cancer diagnosed before the age of 50 was one of the Besthesda criteria. The correct response rates for the rest of the survey ranged from 32-96%. Questions about Lynch syndrome associated cancers returned fewest correct answers. In general, surgeons are poorly informed about cancers associated with Lynch syndrome. Conclusion: The study demonstrates limited awareness of the Besthesda criteria amongst New Zealand General Surgeons. Those treating colorectal cancer should be aware of the classic features of Lynch syndrome and test appropriately. ©NZMA.
Wiltshire, E, Davidzon, G, DiMauro, S, Akman, HO, Sadleir, L, Haas, L, Zuccollo, J, McEwen, A & Thorburn, DR 2008, 'Juvenile Alpers disease', ARCHIVES OF NEUROLOGY, vol. 65, no. 1, pp. 121-124.View/Download from: Publisher's site