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

Participant Enrollment (pre-test):

This system component enables the participant to start the process prior to the visit by enabling the participant to enter his/her personal information into the DGA system. This step is estimated to takes approximately ten minutes and is expected to save valuable time should they need to come for a genetic counseling session. Using this component, the medical questionnaire will self-adjust to address the clinical scenario related to each participant. This component will allow the attending physician to receive virtually all required information about the participant prior to their meeting, thereby improving communication with the participants, and potentially referring them to relevant tests even prior to their meeting. In the face-to-face meeting between the participants and the medical professional, most of the report summarizing treatment and family history, which the medical professional would have usually spent precious time filling, will be automatically ready, allowing for easy editing and finalization.

Next, the participant is guided through an on-line introductory personalized video explaining the genetic test and its implications tailored to the medical information that the participant entered in the questionnaire. The participant's understanding of the information presented in the personalized introductory video is tested by three questions. The participant must accurately answer the three questions. If the participant makes two mistakes the application opens the video in the relevant section and then asks the participant again. Following a successful completion of this step the participant is invited to sign an electronic Informed Consent to carry out the routine CarrierScan screening test (which is not a part of this study). The participants will re-sign a hard copy Informed Consent upon arrival to the Sheba Genetic Institute. A dedicated dashboard enables medical staff to monitor the progression of a participant along the process.

Step 1. Registration: During the initial phone call with potential participants, qualified staff that are part of the study will explain the process and extend an invitation to participated in the study. The DGA process will begin when the Sheba Medical Center (MC) Genetics Institute will send potential participants a link following the initial phone call between them. This link will enable the participant a secure connection to the DGA system. During the initial registration to the system the participant will undergo authentication using the standard two-factor authentication method based on phone number and the last four digits of the ID number of the participant. At the end of this process a new user will be created in the system.

Step 2. Interactive medical questionnaire: The interactive medical questionnaire is defined as the process of gathering personal information relevant to the specific clinical genetic scenario (e.g. personal information, personal and family medical information). The interactive medical questionnaire incorporated in the Enrollment app is based on Ministry of Health (MOH) guidelines for carrier screening. The questionnaire is dynamic and is interactively adapted based on live information supplied by the participant. In addition, the questionnaire is taking advantage of "natural language form", a user experience technique for drafting the questions, for a higher compliance rate. The questionnaire was approved by the Sheba MC PI.