GeneEQUAL

Respectful, accessible and inclusive genomic health care for people with intellectual disability

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Project name

GeneEQUAL: Respectful, accessible and inclusive genomic health care for people with intellectual disability

Project overview

The GeneEQUAL program is designed to enable the development and delivery of a world-leading respectful and inclusive genomic model of care for people with intellectual disability.

We have adopted an innovative inclusive research approach by including co-researchers with intellectual disability as members of the research team (Strnadová et al., 2017; 2018). We use co-design and co-production principles (Strnadová et al., 2020, 2022) that are becoming widely accepted as crucial to responsible research.

The program of research centers on the knowledge, perspectives and experiences, education needs and preferences of people with intellectual disability accessing genomic services within NSW Health, as communicated directly by themselves. People with intellectual disability are important but neglected ‘end users’ of genomic services.

We engage with all relevant stakeholders and partners meaningfully and extensively.

For example, we have established with the NSW Ministry of Health, health service providers, and self-advocacy and rare genetic condition support organisations, a multistakeholder advisory group which has met quarterly.

Strnadová, I., Dowse, L., & Watfern, C. (2020). Doing research inclusively: Guidelines for co-producing research with people with disability. DIIU Sydney.

Strnadová, I., Dowse, L., & Garcia-Lee, B. (2022). Doing Research Inclusively: Co-Production in Action. DIIU Sydney.

Strnadová, I., Nevinne, S., Scully, J. L., & Palmer, E. (2022). The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review. Genetics in Medicine, 24, 535-548. doi: https://doi.org/10.1016/j.gim.2021.11.013.

Strnadová, I. & Walmsley, J. (2018). Peer-reviewed articles on inclusive research: Do co- researchers with intellectual disabilities have a voice? Journal of Applied Research in Intellectual Disabilities, 31(1), 132-141. doi:10.1111/jar.12378.

Our vision:

Genomic health care that respects, values and includes all people with intellectual disability.

Genomic health care that is a true partnership between people with intellectual disability, their support people and health care professionals.

We believe people with intellectual disability of all ages should have high quality genomic health care - just like everyone else!

Our goals

Our work aims to:

  • Empower people with intellectual disability to make decisions about their genomic health care
  • Support genomic health care workers to be respectful and to provide accessible and inclusive health care to people with intellectual disability
  • Support schools-based educators to engage people with intellectual disability with accessible information and resources about genomics in health

What do we do

Our research spans health, disability and education sectors.

GeneEQUAL Health

We have been funded by the NSW Department of Health, because the Department is very committed to making genomic health care respectful, accessible and inclusive of people with intellectual disability.

We have generated qualitative data from interviews and focus groups with 18 people with intellectual disability and 10 support people, varying in age, gender, and ethnicity across metropolitan, regional and rural NSW.

The data analysis provided information about:

  • The knowledge, perspectives, and experiences of people with intellectual disability of genetic testing and counselling in NSW Health,
  • Existing gaps in education and point-of-care resources,
  • Perceptions of improved ways to support delivery of genomic services,
  • Considerations for a more inclusive approach by health professionals.

The research questions guiding this part of our research program were:

  1. What are the knowledge, perspectives and experiences of people with intellectual disability of current practices of genetic testing and genetic counselling (‘genomics healthcare services’) across New South Wales (NSW)?
  2. What are the education needs and preferences of people with intellectual disability on genetic testing in general and NSW genomics healthcare services specifically?
  3. What are the facilitators and barriers of providing equitable and accessible genomics healthcare services for people with intellectual disability in NSW?

Our newsletters contain more information about the research process of GeneEQUAL Health.

GeneEQUAL Schools

We are now moving to additional stages of the program including qualitative research in schools, to understand NSW teachers’ perspectives on teaching genomic health literacy content to students with intellectual disability, and also to co-producing point of care genomic resources for people with intellectual disabilities and clinician education.

Genomic education provided in NSW school syllabuses, including Stage 4 – 6 Science courses, can build foundational genomic literacy for all students, including students with intellectual disability.

Genetic testing is becoming increasingly popular. It can identify underlying genetic conditions, and their causes, which informs treatment options. Genomic literacy is about being able to understand, process and apply the genomic information involved with tests and their results.

Building genomic literacy in students with intellectual disability helps them navigate genetic testing and empowers them to achieve improved health outcomes through precision medicine, individualised interventions and informed choices.

There are no publicly available resources or professional develop to support the teaching of genomic literacy to students with intellectual disability. There is also limited research on the use of evidence-based practices to build genomic literacy.

High school teachers who have taught science to students with intellectual disability within the last ten years will be interviewed. Other school staff, including learning and support teachers and School Learning Support Officers (SLSOs) who have assisted these science teachers will also have the opportunity to share their experiences.

This study seeks to understand:

  • The barriers and enablers to school-based education about genomics for students with intellectual disability
  • What strategies are used to support these students

School staff preferences for additional resources and training in genomic education.

Who we are

  • Dr Emma Palmer (PhD, FRACP, MBBS, BA (HONS I OXON), DIP. RANZCOG, DIP. TROP. MED. & HYG. (RCP), MRCPCH, AFHEA)

    Clinical Geneticist, Sydney Children’s Hospitals Network

    Clinical Lecturer, Sydney, School of Medicine and Health

    E:elizabeth.palmer@unsw.edu.au

    Dr Palmer has more than 20 years’ medical experience and has worked in Clinical Genetics for over 10 years. She is a clinical academic and clinical geneticist at Sydney Children’s Hospital Network (SCHN), Randwick, and a lecturer at the University of New South Wales.

    She has an excellent track record in with over 60 journal articles and two book chapters. She leads international research and has delineated six novel genetic causes of intellectual disability, published in world-leading medical journals such as Cell, American Journal of Human Genetics and Molecular Psychiatry. She leads a 7-person interdisciplinary team , investigating how best to support patients, families and clinicians of children with rare genomic conditions, and is coordinating principal investigator of Gene2Care. She leads state-wide, national, and international research programs, and is scientific advisor to international intellectual disability patient advocacy groups. She is an expert for the World Health Organisation regarding strengthening health services for people with rare genomic conditions.

    Dr Palmer has extensive teaching experience at both the pre- and post-graduate level and has developed educational resources on genomics for clinicians and patients as part of national and international collaborations. She convenes the short course which has been designed to provide medical practitioners with the pecialized knowledge, skills and confidence to successfully integrate genetics and genomics into their daily practice. She also leads RArEST, a national program of education and research to improve the model of care for people with rare disease, and a program of research across Sydney Children’s Hospital Network (40 investigators) with national and international collaborators, that aims to improve the patient journey for individuals with genomic conditions.

    Find out more information about

  • Professor Iva Strnadová (Doc., PhDr., Mgr., PhD)

    Professor in Special Education and Disability Studies

    Sydney, School of Education

    E: i.strnadova@unsw.edu.au

    Professor Strnadová has a longstanding research expertise in the well-being of people with intellectual disability; life transitions of people with disability (particularly intellectual disability and autism); parents with intellectual disability; and inclusive research methods. She has an excellent track record in with 19 books, 64 book chapters, 96 journal articles, which have been cited over 2,300 times (Google Scholar, h-index 25).

    Professor Strnadová’s work in Australia and beyond focuses on giving voice to people with intellectual disability who have been traditionally marginalised. Professor Strnadová is currently leading a world-wide cutting-edge trial in collaboration with the NSW Department of Education. In this co-designed and co-produced process, an alternative to (a state-wide survey for students) for students with moderate and high support needs has been developed and trialled in 24 schools, with a plan to be rolled out across the whole state.

    Professor Strnadová is a world-recognised leader in inclusive research, in which people with intellectual disability have a role as researchers. She is a passionate advocate for co-design and co-production in matters relevant to people with intellectual disability and autism. She led the development of the Disability Innovation Institute’s , which were launched in August 2020, and guidelines launched in May 2022.

    Professor Iva Strnadová has strong community engagement. She is the Vice-President of the . She is also on the , an organisation run by people with intellectual disability.

    Find out more information about Professor Strnadová

  • Jackie Boyle (RN, BHSc, Grad Cert Child & Family Health, MBioethics)

    Clinical Nurse Consultant and Genetic Counsellor

    Genetics of Learning Disability Service, NSW Health

    E: jackie.boyle@health.nsw.gov.au

    Jackie is a genetic counsellor and Clinical Nurse Consultant working for the NSW Genetics of Learning Disability (GOLD) service in Australia. She has seventeen years of clinical experience working within the specialty of inherited intellectual disability. As a member of many collaborative research teams during this time, Jackie has also gained a range of experience in different research settings.

  • Professor Jackie Leach Scully (PhD)

    Professor in Bioethics and Director of the Disability Innovation Institute

    Sydney

    E: jackie.leach.scully@unsw.edu.au

    Professor Scully is an internationally recognised bioethicist focusing on ethical issues in disability and genomics. With a background in molecular genetic research prior to her move into biomedical regulation and bioethics, she also has several years’ experience of public engagement and producing health information for a variety of audiences.

    The author of Professor Scully is widely acknowledged as a pioneer in the understanding of ethical issues in healthcare from the perspective of people with disability. Her past 20 years of empirical bioethics research uses a variety of methods of stakeholder consultation and engagement, and the development of methods of public deliberation to examine challenging and sensitive ethical issues in healthcare. Her research has also had a focus on the experiences of marginalised and hard to reach communities, including people with disability.

    Professor Scully’s current funded research is in an ARC-funded , focusing on ADM in disability services, and two ARC-funded Discovery projects looking at the experiences of people with disability with prenatal genetic screening and with epigenetic counselling. She therefore has a wide network of relevant academic and community contacts for dissemination and impact.

    Professor Scully has wide experience in providing guidance to national healthcare policies, e.g., in the United Kingdom on the (2018), and She is currently Chair of NSW Health’s Health Ethics Panel and a member of the Australian Health Ethics Committee. She is a and (UK), of the Royal Society of New South Wales, and of the .

  • Julie Loblinzk

    Self Advocate

    Adjunct Lecturer, Sydney, School of Education

    E: julie@sasinc.com.au

    Julie Loblinzk is best positioned to be included as a co-researcher in this project, as she is a Self Advocacy Coordinator and has worked for Self Advocacy Sydney Inc. for the past 20+ years. She has been involved with the service in various paid staff and Board roles and has well established links with people with intellectual disability and their organisations across NSW. Her skills are critical to the effective involvement people with intellectual disability as key members of the research team to ensure that the voice of people with intellectual disability is included from the start, thereby building credibility in the research and ongoing trust among the community.

    Julie Loblinzk is also an Adjunct Lecturer at the School of Education, and an experienced researcher, with three s.

  • Joanne Danker (JD) (PhD)

    Senior Lecturer in Special Education

    Sydney, School of Education

    E: j.danker@unsw.edu.au

    Dr Danker is a lecturer in special education at , Sydney. Her research aims to enable the voices of people with developmental disabilities through the use of accessible methods. She is also a committee member of the NSW chapter of the Australian Association of Special Education.

    Find out more about Dr Danker

  • Bronwyn Terrill

    Manager in Education and Communication

    Garvan Institute of Medical Research

    E: b.terrill@garvan.org.au

    Bronwyn is an educator and researcher focusing on DNA and genetics. She works at the Garvan Institute of Medical Research, Sydney and Australian Genomics. She is passionate about engaging different audiences with genetic research and genomic medicine and has done this for many years through writing, exhibitions, educational activities and online media. She collaborates on research into: what makes people ‘literate’ in genetics; genomics education in healthcare, universities and schools; and community engagement with genomics.

  • Skie Sarfaraz

    New Leaders and Peer Support (LAPS) Program Officer (Blacktown)

    Self Advocacy Sydney

    E: skie@sasinc.com.au

    Skie is a self-advocate who brings her lived experience of having intellectual disability and experience of supporting other people with disability. Skie is an early career Indigenous researcher, who is well connected to various networks of families who have a child with intellectual disability and/or on the autism spectrum, some of which are from the culturally and linguistically diverse backgrounds.

  • Karen-Maia Jackaman (Ba.BEd., MComm)

    Project Coordinator in Disability Strategy Team

    NSW Department of Education

    E: karen-maia.jackaman@det.nsw.edu.au

    Karen-Maia is currently the Project Coordinator within the NSW Department of Education’s Disability Strategy. Karen-Maia has extensive experience as a Head Teacher Wellbeing and Learning Support in NSW public schools, and over twenty years experience teaching and supporting students with disability. She is completing her Masters of Special Education at , with a minor thesis in genomic education for students with intellectual disability.

  • Michelle Tso (BA BEd(Sec)(Hons))

    PhD candidate; Research Assistant

    Sydney, School of Education

    E:m.tso@unsw.edu.au

    Michelle is a PhD student at the University of New South Wales. Her PhD thesis is on the peer interactions of high school students girls on the autism spectrum. She is supervised by Professor Iva Strnadová, Dr Joanne Danker and Dr Sue O’Neill. Her research interests are in inclusive and special education, and especially in supporting students on the autism spectrum to have increased well-being in the school environment and beyond. She is a research assistant on projects at the University of New South Wales (School of Education, and the Disability Innovation Institute).

    Find out more information about

  • Manjekah Dunn (MD, BMed Honours)

    Master’s in Research candidate; Research Assistant

    Sydney, School of Education

    E: manjekah.dunn@unsw.edu.au

    Manjekah is a junior doctor at Hornsby Hospital with an interest in clinical genetics and patient advocacy. She is currently conducting a Research Masters project at in the Faculty of Medicine examining informed consent and the co-design of Easy Read resources about genetic testing for people with an intellectual disability. She also previously completed an Honours degree in paediatric endocrinology, examining prevention of Type 1 Diabetes in children using autologous umbilical cord stem cells. Manjekah is the Masters Postgraduate Student Representative in the School of Clinical Medicine Board, representing and advocating for research students in the School of Clinical Medicine. She is currently completing the Sydney Child Health Program and recently finished the Practical Medical Genomics Short Course. Manjekah also has an interest in teaching and the biological sciences, with over seven years' experience teaching students at a secondary and tertiary level.

  • Sierra Classen (BA (hons), MTeach)

    Master's in Special Education candidate; Research Assistant

    Sydney, School of Education

    E: s.classen@student.unsw.edu.au

    Sierra is a Masters student and a research assistant in special and inclusive education at the University of NSW. She currently works as a primary school teacher with the NSW Department of Education. Sierra is passionate about supporting children with a disability and Aboriginal and Torres Strait Islander children and families to know their rights and have a strong voice in their own educational journeys.

Publications

Genetic testing is frequently conducted on people with intellectual disability. This systematic literature review sought to assess what research has been conducted with people with intellectual disability to investigate their opinions and experiences of genetic counselling and testing.
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Recruitment

Research invitation for school staff who teach science to students with intellectual disability

We would like to invite you to take part in a critical research study to better understand how genomic education is delivered to students with intellectual disability in Stage 4, 5 and 6.

Genomic education provided in NESA Stage 4 – 6 Science courses can build foundational genomic literacy.

Genetic testing is becoming increasingly popular. It can identify underlying genetic conditions, and their causes, which informs treatment options. Genomic literacy is about being able to understand, process and apply the genomic information involved with tests and their results.

Building genomic literacy in students with intellectual disability helps them navigate genetic testing and empowers them to achieve improved health outcomes through precision medicine, individualised interventions and informed choices.

This study seeks to understand:

  • The barriers and enablers to school-based education about genomics for students with intellectual disability
  • what strategies you use to support these students and,
  • your preferences for additional resources and training in genomic education.

We are looking for school staff who want to take part in this research who are:

  • High school teachers who have taught science to students with intellectual disability within the last ten years
  • Learning and support teachers or School Learning Support Officers (SLSOs) who have supported science teachers to teach science to students with intellectual disability within the last ten years
  • Teachers currently working in mainstream NSW schools, including support units within mainstream school

If you were to participate your involvement would include

  • 1 x 30-60 minute interview or focus group

This can be conducted face to face, online or via phone.

For more information

Contact us

Dr Emma Palmer (Elizabeth.palmer@unsw.edu.au)

Professor Iva Strnadová (i.strnadova@unsw.edu.au)

GeneEQUAL website:

Resources


Government policy

Plan for integrating genomics into NSW Health to enhance disease management and prevention

National charter

Poster version of Charter which outlines the rights that consumers can expect when receiving health care

Research resource

Easy Read versions of guidelines that discuss practical strategies for undertaking co-designed research with people with disability

Language resource

Language guide developed by People with Disability Australia to encourage the respectful use of language around disability

Foundation

A non-profit organisation seeking to raise positive awareness of genetic differences

Article

An informative article with figures describing potential health problems for people with intellectual disability and how to support their access to healthcare

Blog

A resource-rich blog written by people with disability for people with disability, their loved ones, carers, teachers, and any caring professional.