The Use of Digital Genetic Assistant (DGA) for Expanded Carrier Screening

NCT04014114 | Unknown

• 1 other identifier: 007241
• Study Type: observational
• Target: 600
• Locations: 0 countries
• Sites: N/A

Brief Summary

The DGA provides an end-to-end digital solution to the preconception carrier screening process from participant registration to receipt of the test results and their interpretations. These steps are provided using personalized animated videos.

Conditions

Genetic Disease

Outcome Measures

Primary Outcomes (1)

• Change in the number of post-test face-to-face/telephone genetic counseling sessions

  The investigators expect a significant change in the number of post-test face-to-face/telephone genetic counseling sessions. The current practice of expanded carrier screening provides a genetic counseling session to each couple who one of them is found to be a carrier of a genetic disease. Following the CarrierScan, expanded carrier screening test, \~60% of the couples are expected to be carriers of at least one disease. Using the DGA, the investigators expect that in the vast majority of the cases (\>95%), when low risk is identified, the couple will be informed by the DGA without requiring a face-to-face/telephone session. The investigators expect that some of the low risk couples that received digital report will still request further counseling. The investigators estimate this fraction to be 10-20% of the low risk participants.

  One year

Interventions

Digital Genetic Assistant OTHER

An end-to-end digital solution to the carrier screening process from participant registration to receipt of the test results and their interpretations. These steps are provided using personalized animated videos.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Couples (Male + Female) that plan to have children together.

You may qualify if:

• Participants willing to undergo expanded preconception carrier screening (CarrierScan Screening Test).
• Participants willing to use the DGA as part of their genetic screening.
• Participants willing to fill up questionnaires about their experience and understanding of the genetic counseling and share their clinical and DGA usage data with the study personnel.
• Fluent in Hebrew.
• Couples (Male + Female) that plan to have children together.
• Age above 18.

You may not qualify if:

• Individuals that undergo bone marrow transplantation.
• Participants refusing to participate in the study.

Sponsors & Collaborators

• Igentify Ltd: lead
• Sheba Medical Center: collaborator

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Elon Pras, Prof.

  Sheba Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ayala Lagziel, PhD

CONTACT

+972 54 444 3074; ayala.lagziel@igentify.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 4, 2019
• First Posted: July 10, 2019
• Study Start: April 1, 2020
• Primary Completion: April 1, 2021
• Study Completion: April 1, 2022
• Last Updated: January 29, 2020

Record last verified: 2019-07

Data Sharing

• IPD Sharing: Will not share