Translation, cross-cultural adaptation, and preliminary validation of a patient-reported outcome measure for genetic counseling outcomes in Sweden

Rebecka Pestoff; Henrik Danielsson; Marion McAllister; Peter Johansson; Cecilia Gunnarsson

doi:10.1002/jgc4.1896

Translation, cross-cultural adaptation, and preliminary validation of a patient-reported outcome measure for genetic counseling outcomes in Sweden

J Genet Couns. 2024 Apr 26. doi: 10.1002/jgc4.1896. Online ahead of print.

Authors

Rebecka Pestoff^{1

2

3}, Henrik Danielsson⁴, Marion McAllister⁵, Peter Johansson⁶, Cecilia Gunnarsson^{1

2

7}

Affiliations

¹ Centre for Rare Diseases in Southeast Region of Sweden, Linköping University, Linköping, Sweden.
² Division of Community Medicine, Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.
³ Department of Clinical Genetics, Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
⁴ Department of Behavioural Sciences and Learning, Linköping University, Linköping, Sweden.
⁵ Centre for Medical Education, School of Medicine, Cardiff University, Cardiff, UK.
⁶ Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden.
⁷ Department of Clinical and Experimental Science, Linköping University, Linköping, Sweden.

PMID: 38665117
DOI: 10.1002/jgc4.1896

Abstract

Genetic counseling is key for understanding the consequences of hereditary and genetic diseases and, therefore, crucial for patients, their families, and healthcare providers. Genetic counseling facilitates individuals' comprehension, decision-making, and adaptation to hereditary diseases. This study focuses on the Swedish adaptation of the Genetic Counseling Outcome Scale-24 (GCOS-24), an internationally validated, patient-reported outcome measure (PROM) for quantifying patient empowerment in genetic counseling. This study aimed to translate and cross-culturally adapt the GCOS-24 to measure patient-reported outcome from genetic counseling in Sweden. The adaptation process was meticulously conducted, adhering to international guidelines, with cross-cultural adaptation, translation, and back translation, to ensure semantic, conceptual, and idiomatic equivalence with the original English version. Face validity and understandability was assured using qualitative cognitive interviews conducted with patient representatives, and by a committee of experts in the field. The psychometric properties of the Swedish version of GCOS-24 (GCOS-24swe) were evaluated using a robust sample of 374 patients. These individuals received genetic counseling by telephone or video, necessitated by the constraints of the COVID-19 pandemic. Participants responded to GCOS-24swe both before and after genetic counseling. The GCOS-24swe demonstrated face validity, good internal consistency (Cronbach's alpha = 0.86), significant responsiveness (Cohen's d = 0.65, p < 0.001), and good construct validity. The study's findings underscore the GCOS-24swe's potential as an effective instrument in both clinical practice and research within Sweden. It offers a valuable means for assessing patient empowerment, a key goal of genetic counseling. Additional psychometric assessment of test-retest reliability and interpretability would further enhance the utility of GCOS-24swe.

Keywords: clinical genetics; genetic counseling; outcome measures; patient empowerment.