An Assessment of “Empowerment” As a Measure of the Impact of Genetic Results on Families Affected By Autism and Related Neurodevelopmental Conditions

Background:  Genetic tests are standard of care for children with neurodevelopmental conditions. However, genetic results entail significant complexity. Qualitative studies suggest that genetic results have variable effects on families. However, little has been done to measure the impact of genetic results on families affected by autism and related neurodevelopmental conditions, due to the lack of validated and relevant tools. Recent research in patient reported outcome measures (PROMs) has established the construct of “empowerment” to describe patient benefits from genetic services. It suggests that individuals undergoing genetic counseling have “decisional”, “cognitive”, and “behavioral” control, “emotional regulation” and “hope”. A novel PROM, the Genetic Counseling Outcome Scale (GCOS)-24, has been developed to measure empowerment in genetics. To date, there are no studies that specifically examine empowerment in families affected by neurodevelopmental conditions.

Objectives:  Our goal is to assess the validity of a novel tool, the GCOS-24, which measures empowerment, in families of children with autism and related neurodevelopmental conditions undergoing genetic testing.

Methods:  Data were drawn from the ongoing prospective cohort study “ASD Genome to Outcome”, assessing genetic results impact on families with autism and related conditions. Parents are invited to the study because their child has been referred for clinical genetic testing, as part of his/her routine evaluation in the context of a neurodevelopmental diagnosis, like autism. In addition to other questionnaires, parents completed the GCOS-24, as well as a measure of parental stress, the Perceived Stress Scale (PSS), and distress, the Distress Thermometer (DT), prior to receiving genetic results for their affected child.

Results:  Data is available on 28 families: 22 (78.6%) children have autism and 6 (21.4%) have developmental delay or intellectual disability. On average, children were 5.82 (SD = 3.31) years of age at entry into the study. Caregiver-reported empowerment, as measured by the GCOS-24, was significantly associated with parent stress, measured using the PSS (r = -0.404, p = 0.033), but not with distress, measured using the DT (r = -0.267, p = 0.169). Empowerment was not moderated by maternal education, family income or the child’s diagnosis.

Conclusions: Consistent with findings from other studies assessing empowerment in the context of routine health services, we have validated the use of the GCOS-24 for autism and related neurodevelopmental disorders. However, this measure of “empowerment” was only moderately associated with parental stress, suggesting that the GCOS-24 may also be capturing a unique construct from stress. This is the first study exploring the validity of empowerment as a measure in biomedical research of autism. It offers a methodology for the systematic evaluation of the impact of genetic results on families affected by neurodevelopmental conditions.