Autism Genomics Sweden - Genetic Guidance and Information Trial

NCT06740760 | Completed

• 1 other identifier: 2023-06737-01
• Study Type: interventional
• Target: 63
• Locations: 1 country
• Sites: 1

Brief Summary

This observational clinical trial aims to evaluate whether providing genetic information about the origins of autism and related psychiatric disorders enhances understanding, well-being, and empowerment in adolescents and young adults with autism. The study will compare the outcomes of two groups: one receiving a 1.5-hour genetic counseling session with a clinician and the other receiving general genetic information via a leaflet. Participants will be assessed using pre- and post-intervention questionnaires, including measures of understanding of their condition (mGCOS-24) and mental health (GAD-7 and PHQ-9). The study also explores whether mental health factors like anxiety and depression influence the effectiveness of the interventions.

Conditions

Autism; Autism Spectrum Disorder; ADHD - Attention Deficit Disorder With Hyperactivity; Depression Anxiety Disorder; Depression - Major Depressive Disorder; Anxiety

Keywords

genetic information; polygenic scores; rare variants; genetic counselling; genetic knowledge

Outcome Measures

Primary Outcomes (1)

• modified Genetic Counselling Scale - 24 (mGCOS-24)

  Measures changes in empowerment, understanding, and ability to use genetic information. Additional information: The mGCOS has been translated into Swedish based on the GCOS-validated Swedish translation. Change in the primary outcome will be compared between the two groups of active interventions. Subgroup analyses will be performed based on those receiving their personal genetic information vs those receiving only general population-level information.

  At enrollment (pre), 1-2 weeks after intervention (post)

Secondary Outcomes (2)

• Generalised Anxiety Disorder Questionnaire (GAD-7)

  Pre - Post (1-2 weeks)

• Patient Health Questionnaire (PHQ-9)

  Pre - Post (1-2 weeks)

Study Arms (2)

Clinician led genetic information session

ACTIVE COMPARATOR

Clinician-led structured genetic information session in person or through an online video link. Participants with genetic information available (clinically significant rare variants from exome sequencing and copy number variant analysis, and polygenic scores (autism, ADHD, depression, and anxiety), these will also be communicated as the last part of the session.

Behavioral: Genetic counselling

Leaflet genetic information

ACTIVE COMPARATOR

The participants receive a leaflet with genetic information without in-person contact

Behavioral: Leaflet

Interventions

Genetic counselling BEHAVIORAL

Behavioral: genetic counselling

Clinician led genetic information session

Leaflet BEHAVIORAL

Genetic information as a form of a leaflet

Leaflet genetic information

Eligibility Criteria

• Age: 15 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Participants aged 15 - 30 years of age.
• Living in Sweden.
• Able to consent independently or with guardian consent if necessary.
• Understanding of Swedish-language questions.
• Interest in receiving genetic counselling information on autism.

You may not qualify if:

• Participants unwilling to complete pre- or post-intervention surveys.
• Participants unwilling to participate in either form of genetic counseling

Sponsors & Collaborators

• Karolinska Institutet: lead

Study Sites (1)

Karolinska Institutet

Stockholm, Sweden

Location

MeSH Terms

Conditions

Autistic Disorder; Autism Spectrum Disorder; Attention Deficit Disorder with Hyperactivity; Anxiety Disorders

Interventions

Genetic Counseling

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Attention Deficit and Disruptive Behavior Disorders

Intervention Hierarchy (Ancestors)

Genetic Services; Health Services; Health Care Facilities Workforce and Services

Study Officials

• Kristiina Tammimies, PhD

  Karolinska Institutet

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Docent (Associate Professor), Senior Researcher

Study Record Dates

• First Submitted: December 14, 2024
• First Posted: December 18, 2024
• Study Start: June 15, 2024
• Primary Completion: June 30, 2025
• Study Completion: July 31, 2025
• Last Updated: August 11, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ANALYTIC CODE
• Time Frame: March 2025 -

Locations

SE (1)