There are major gaps in the understanding of the opinions, experiences, and preferences of people with a learning disability regarding genetic counselling and testing, according to a new study.

The study concluded that 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.

Genetic testing is frequently conducted on people with intellectual disability. This systematic literature published in Genetics in Medicine 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.

The researchers conducted a search of five online databases (from year of database creation to 2021) and yielded 1,162 articles. Seven articles met the inclusion criteria. They assessed the quality, accessibility, and inclusivity of each study and extracted the data. Deductive content analysis was performed.

The aim was to address the following two research questions:

  • What are the experiences of people with intellectual disability of genetic counselling and testing?
  • What are the opinions of people with intellectual disability about genetic counselling and testing?

Participants expressed a wide variety of opinions about genetic tests

They found that 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.

The researchers said: "The most striking finding of this systematic literature review was the paucity of research on the opinions and experiences of people with intellectual disability about genetic counselling and testing. This lack of research is in stark contrast with the scale of genetic testing conducted on people with intellectual disability and that of prenatal screening or testing for genetic causes of intellectual disability.

"The current paucity of inclusive research on the opinions and experiences of people with intellectual disability in genetic counselling and testing represents a profound failure of health care accessibility and equity that future research must urgently address."