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

Abstract

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.

“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare

“…Children with intellectual disability form the majority of those currently seen by genomic healthcare services, yet our recent systematic literature review showed their opinions and preferences about genomic healthcare have not been assessed at all (5). Effective inclusive qualitative research with children with intellectual disability has been demonstrated by our group and others (8).…”

“…Genomics is revolutionising understanding of the underlying causes of over 50% of intellectual disability in high income countries (2,3), and can improve overall health outcomes through precision medicine, empowerment, and reproductive choice (4). People with intellectual disability risk exclusion from these opportunities through inequitable, non-inclusive genomic healthcare and lack of data on their experiences, opinions, and preferences (5). This situation breaches their rights under the United Nations Convention on the Rights of Persons with Disability (2006) (6) and Australia's Charter of Health Care Rights (7).…”

Genetic Testing on Patients with Developmental Delay: A Preliminary Study from the Perspective of Physicians

“…Factors that should be considered while conducting genetic testing of patients with developmental delay were discussed in previous studies [ 13 , 14 , 15 , 16 , 17 ]; the researchers developed the questionnaire items based on these findings [ 13 , 14 , 15 , 16 , 17 ]. The respondents’ level of concern for each factor was rated on a 5-point Likert scale (1 = not concerned at all; 5 = very concerned).…”

“…The implementation items were developed based on previous studies [ 13 , 14 , 15 , 16 , 17 ] by considering the steps the physician needed to perform while conducting genetic testing on patients with developmental delay. The 25 physicians who recommended genetic testing to patients with developmental delay in the past year responded to the items evaluating the degree to which each step was implemented when conducting genetic testing.…”

“…In order to investigate the obstacles faced by doctors and their process of performing genetic tests on patients with disabilities, a questionnaire was developed based on a review of previous studies [ 13 , 14 , 15 , 16 , 17 ]. It comprised 30 items, including eight open-ended items on “general characteristics” and three items on medical specialization, clinical experience, and the “experience of providing medical service on genetic testing”.…”