Autism Genomics Sweden - Genetic Guidance and Information Trial (AuGeS-GV)

Autism Genomics Sweden - AuGeS - Genetic Information and Guidance in Autism and Related Psychiatric Conditions Trial

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.

Study Overview

• Status: Completed
• Conditions: Anxiety; Autism Spectrum Disorder; Autism; Depression Anxiety Disorder; Depression - Major Depressive Disorder; ADHD - Attention Deficit Disorder With Hyperactivity
• Intervention / Treatment: Behavioral: Genetic counselling; Behavioral: Leaflet

Detailed Description

The goal of this observational clinical study is to assess whether receiving genetic information about the origins of autism and related neuropsychiatric disorders, either at a population level or as individual information after genetic testing, can improve understanding of their condition, well-being, and empowerment in adolescents and young adults with autism spectrum condition (ASC). The main questions to answer are:

• Does a genetic counseling session improve participants' understanding of autism and its origins, well-being, and empowerment as measured by the modified Genetic Counseling Outcome Scale (mGCOS-24)?
• Is the outcome modified by mental health indicators such as anxiety and depression measures, and does the information improve these?
• We will also assess how genetic knowledge and beliefs before the genetic information session affect the main outcome of the mGCOS-24 change.

The comparison will be made between the group receiving a 1.5-hour genetic counseling session with a clinician and a group receiving general genetic information via leaflet by email to see if the genetic information session by the clinician leads to greater improvements in understanding, empowerment, and well-being.

Participants will:

• Answer basic demographic questionnaire as well as a questionnaire about genetic knowledge and beliefs
• Be randomized to receive a 1-1.5 hour genetic counseling session in person or online, or general genetic information via leaflet.
• Complete pre- and post-intervention questionnaires, including the mGCOS-24, GAD-7, and PHQ-9.

• Study Type: Interventional
• Enrollment (Actual): 63
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Sweden
  • Stockholm, Sweden
    • Karolinska Institutet

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• 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.

Exclusion Criteria:

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Health Services Research
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Active Comparator: Clinician led genetic information session; 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; Behavioral: genetic counselling
Active Comparator: Leaflet genetic information; The participants receive a leaflet with genetic information without in-person contact	Behavioral: Leaflet; Genetic information as a form of a leaflet

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Generalised Anxiety Disorder Questionnaire (GAD-7)	We will monitor the change in GAD-7 from pre to post.	Pre - Post (1-2 weeks)
Patient Health Questionnaire (PHQ-9)	Evaluates changes in participants' depression symptoms	Pre - Post (1-2 weeks)

Collaborators and Investigators

• Sponsor: Karolinska Institutet
• Investigators: Principal Investigator: Kristiina Tammimies, PhD, Karolinska Institutet

Study record dates

Study Major Dates

• Study Start (Actual): June 15, 2024
• Primary Completion (Actual): June 30, 2025
• Study Completion (Actual): July 31, 2025

Study Registration Dates

• First Submitted: December 14, 2024
• First Submitted That Met QC Criteria: December 14, 2024
• First Posted (Actual): December 18, 2024

Study Record Updates

• Last Update Posted (Actual): August 11, 2025
• Last Update Submitted That Met QC Criteria: August 5, 2025
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Keywords: rare variants; genetic knowledge; genetic counselling; genetic information; polygenic scores
• Additional Relevant MeSH Terms: Mental Disorders; Behavioral Symptoms; Mood Disorders; Neurodevelopmental Disorders; Child Development Disorders, Pervasive; Attention Deficit and Disruptive Behavior Disorders; Autism Spectrum Disorder; Anxiety Disorders; Depression; Depressive Disorder; Autistic Disorder; Depressive Disorder, Major; Attention Deficit Disorder with Hyperactivity
• Other Study ID Numbers: 2023-06737-01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: The data dictionary will be shared openly; however, the individual-level data will be restricted to necessary clearance from the Karolinska Institutet and the Swedish Ethical Review Authority through the KI Data Repository.
• IPD Sharing Time Frame: March 2025 -
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ANALYTIC_CODE

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No