Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions

Abstract

The genetics care pathway experienced by families affected by autism spectrum disorder (ASD) around the time of diagnosis is currently uncharacterized and potentially variable across contexts. The lack of consensus on outcome measures to capture the impact of genetic services for these families shows a gap in understanding and optimizing this genetics care pathway. The Genetic Counseling Outcome Scale (GCOS‐24) is a validated outcome measure of clinical genetics services. The current study aims to adapt and validate the GCOS‐24 as an outcome measure in the context routine genetic testing in ASD and related conditions. Families seen for their child’s developmental evaluation for ASD and related conditions were invited to participate in a genomics cohort between 2016 and 2018. Families (n = 111) completed the mGCOS‐24 (modified GCOS‐24), adapted from the original GCOS‐24 by clinicians working in the target population’s routine care pathway. The mGCOS‐24 has acceptable internal consistency (Cronbach’s α = 0.84) and high test–retest reliability (ICC = 0.88). It also inversely correlates with stress as measured by Perceived Stress Scale (PSS‐10) and distress, as measured by the Distress Thermometer, rs ≥ 0.39, ps < 0.001. The mGCOS‐24 had adequate readability, as supported by cognitive interviews completed by a sub‐sample of five mothers of a child with ASD. Together, our findings show that the mGCOS‐24 has good validity for the target population. Preliminary characterization of the genetics care pathway in this population revealed remarkable variability in pre‐test counseling and limited post‐test counseling. The use of the mGCOS‐24 as an outcome measure is useful in filling some of these gaps by offering a way to assess, and in the future, optimize the genetics care pathway for families affected by autism and related neurodevelopmental conditions.

Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing

“…Psychometric analysis of the GCOS‐24, in a population of individuals with genetic conditions, revealed good internal consistency, test–retest reliability, sensitivity to change, and evidence of construct validity (McAllister, Wood, et al, 2011 ). For the purpose of our study, we utilized an adapted version of the GCOS‐24, the mGCOS‐24, as previously described (Yusuf, Peltekova, Savion‐Lemieux, Frei, Joober, et al, 2020 ). Higher scores indicate greater degree of empowerment.…”

“…First, we assessed diagnostic yield (clinical utility) in a population‐based sample of families with an affected child, as they underwent diagnostic assessment. Second, we examined empowerment of parents (personal utility) around the time of clinical genetic testing for the child, using a modified version of the GCOS‐24 (mGCOS‐24) that we recently adapted and validated for use in parents of children with NDDs (Yusuf, Peltekova, Savion‐Lemieux, Frei, Joober, et al, 2020 ). Finally, we explored child, family, and health services factors proposed as potential predictors of empowerment in the context of genetic testing for ASD and related NDD (Kasparian et al, 2014 ).…”

Modern Biomarkers for Autism Spectrum Disorder: Future Directions

“…Furthermore, only a portion of individuals with prevalent genetic abnormalities such as Down or Fragile X syndrome are co-diagnosed with ASD [3], demonstrating the lack of specificity of a genetic diagnosis. The lack of good-quality outcome studies for using a structural genetic analysis in the clinical ASD field is emphasized by the need for quantitative outcome measures [26]. Although clinical improvements in management are possible with this information, this usually requires an experienced geneticist to comprehensively interpret complex genetic information [27].…”

Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring

“…Prior research has suggested several complexities related to genetic testing and counselling. Family members have reported, for instance, wide variations in experiences of pre‐test counselling and extents of post‐test counselling concerning autism (Yusuf et al, 2021). Patients in Ireland with rare diseases, for example, often experienced delays in obtaining timely genetic counselling to assist with psychosocial stresses.…”