GeneEQUAL
Respectful, accessible and inclusive genomic health care for people with intellectual disability
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 UNSW Sydney.
Strnadová, I., Dowse, L., & Garcia-Lee, B. (2022). Doing Research Inclusively: Co-Production in Action. DIIU UNSW 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:
- 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)?
- What are the education needs and preferences of people with intellectual disability on genetic testing in general and NSW genomics healthcare services specifically?
- 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
Publications
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 Karen-Maia Jackaman (k.jackaman@student.unsw.edu.au, opens in a new window)
- Download the above information as a Flyer with QR code, opens in a new window
- Download Participant Information Statement and Consent Form, opens in a new window
Contact us
Dr Emma Palmer (Elizabeth.palmer@unsw.edu.au, opens in a new window)
Professor Iva Strnadová (i.strnadova@unsw.edu.au)
GeneEQUAL website: https://www.geneequal.com/
Resources
Government policy
Plan for integrating genomics into NSW Health to enhance disease management and prevention
NSW Health Genomics Strategy: Implementation Plan 2021-25, opens in a new window
National charter
Poster version of Charter which outlines the rights that consumers can expect when receiving health care
Australian Charter of Healthcare Rights, opens in a new window
Research resource
Easy Read versions of guidelines that discuss practical strategies for undertaking co-designed research with people with disability
Doing Research Inclusively: Co-Production in Action, opens in a new window
Language resource
Language guide developed by People with Disability Australia to encourage the respectful use of language around disability
What do I say? A guide to language about disability, opens in a new window
Foundation
A non-profit organisation seeking to raise positive awareness of genetic differences
My XXY Chromodiversity Foundation, opens in a new window
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.