New Study Highlights Need for Improved Genetic Counselling Outcome Measures in Autism in Sweden

September 25, 2026 2 Min Read

Introduction to Genetic Counselling Outcome Measures

Genetic counselling plays a crucial role in supporting individuals and families by providing information and guidance related to genetic conditions. To evaluate the effectiveness of such counselling, outcome measures like the Genetic Counselling Outcome Scale (GCOS-24) have been developed and adapted for various clinical settings.

Development of a Swedish Autism-Specific Measure

While a Swedish version of the GCOS-24 exists, there had been no autism-specific adaptation until recently. Researchers have now created a Swedish autism-specific version of the modified GCOS-24 (mGCOS-24), based on the English adaptation designed for autism contexts. This new tool aims to better capture the unique outcomes relevant to autistic individuals receiving genetic counselling.

Evaluation Using Rasch Analysis

The study applied Rasch analysis, a statistical method used to assess the measurement properties of questionnaires, to both the newly developed Swedish autism mGCOS-24 and the existing Swedish general GCOS-24. This approach helps identify issues such as whether the instrument measures a single underlying concept, how well the response categories function, and whether items are independent of each other.

Key Findings

Both the autism-specific and general Swedish versions showed structural challenges, including multidimensionality, meaning they may be measuring more than one concept.
There were disordered thresholds, indicating some response options may not work as intended.
Local item dependence was observed, suggesting some questions might be too closely related.
Issues with invariance were noted, meaning the scales might not perform consistently across different groups.

Despite these challenges, the researchers identified subscales within the Swedish autism mGCOS-24 that demonstrated acceptable measurement properties. However, applying similar structural adjustments to the general Swedish GCOS-24 did not sufficiently address its broader limitations.

Implications for Families and Genetic Counselling Practice

This research marks the first Rasch-based evaluation of any Swedish GCOS-24 or mGCOS-24 instrument and introduces the first autism-specific version for Sweden. The findings suggest that while the autism-specific tool shows promise, there remains a need for further refinement or possibly the development of new measures to accurately assess genetic counselling outcomes for autistic individuals.

For families and practitioners, this underscores the importance of using validated and context-appropriate tools to evaluate counselling effectiveness, ensuring that the unique needs and experiences of autistic people are adequately captured.

Limitations and Future Directions

The study’s findings are preliminary and highlight structural issues that require attention before these tools can be broadly recommended. Further research is needed to refine these instruments and confirm their reliability and validity in diverse Swedish populations, including autistic individuals.