The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review

Iva Strnadová; Suzanne M Nevin; Jackie Leach Scully; Elizabeth E Palmer

doi:10.1016/j.gim.2021.11.013

The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review

Genet Med. 2022 Mar;24(3):535-548. doi: 10.1016/j.gim.2021.11.013. Epub 2021 Nov 20.

Authors

Iva Strnadová¹, Suzanne M Nevin², Jackie Leach Scully³, Elizabeth E Palmer⁴

Affiliations

¹ School of Education, UNSW Sydney, Sydney, New South Wales, Australia; Disability Innovation Institute, UNSW Sydney, Sydney, New South Wales, Australia.
² School of Women's and Children's Health, UNSW Medicine, Randwick, New South Wales, Australia; Sydney Children's Hospitals Network, New South Wales, Australia.
³ Disability Innovation Institute, UNSW Sydney, Sydney, New South Wales, Australia.
⁴ School of Women's and Children's Health, UNSW Medicine, Randwick, New South Wales, Australia; Sydney Children's Hospitals Network, New South Wales, Australia. Electronic address: elizabeth.palmer@unsw.edu.au.

PMID: 34906474
DOI: 10.1016/j.gim.2021.11.013

Abstract

Purpose: 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.

Methods: A search of 5 online databases (from year of database creation to 2021) yielded 1162 articles. Seven articles met the inclusion criteria. We assessed the quality, accessibility, and inclusivity of each study and extracted the data. Deductive content analysis was performed.

Results: Most study participants showed both the desire and the capability to learn more about genetic conditions and genetic tests. Participants expressed a wide variety of opinions about genetic tests, similar to the range of opinions of the general population. All studies were small and were from a limited number of countries, and analysis showed limited evidence of inclusivity or accessibility.

Conclusion: This review highlights major gaps in the understanding of the opinions, experiences, and preferences of people with intellectual disability regarding genetic counselling and testing. There is urgent need for research to codesign a more inclusive genomic model of care to address this failure in health care accessibility and equity.

Keywords: Accessibility; Genomics; Inclusive research; Intellectual disability.

Publication types

Research Support, Non-U.S. Gov't
Review
Systematic Review

MeSH terms

Attitude
Genetic Testing
Humans
Intellectual Disability* / diagnosis
Intellectual Disability* / genetics