Clinical Trial Details
— Status: Not yet recruiting
Administrative data
| NCT number |
NCT04014114 |
| Other study ID # |
007241 |
| Secondary ID |
|
| Status |
Not yet recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
April 2020 |
| Est. completion date |
April 2022 |
Study information
| Verified date |
July 2019 |
| Source |
Igentify Ltd |
| Contact |
Ayala Lagziel, PhD |
| Phone |
+972 54 444 3074 |
| Email |
ayala.lagziel[@]igentify.com |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial 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.
Description:
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.
Please note that the essence of the DGA system is to enable to conduct genetically relevant
medical informatics processes in the context of digital sessions with secured and adaptive
systems. Such data collection, pedigree drawing, and risk calculation takes place during
face-to-face or over the phone meetings with medical staff using the currently practiced
genetics counseling paradigm.
Step 4. Sample submission and signing a hard copy Informed Consent for the CarrierScan test:
At the Sheba MC Genetic Institute, before the submission of buccal/saliva/blood samples to
the test, participants will be asked to sign a hard copy Informed Consent.
Note: The CarrierScan screening test in not part of this study. Step 5. Introductory
personalized animated video: A personalized and dynamic animated video is machine-generated
following a well-characterized medically supervised algorithm to tailor the video to each
participant. The algorithm that generates the personalized introductory video is approved by
the Sheba medical staff. Participants will receive a short-animated video summarizing the
medical process they are going through. The content of these videos is dynamic and in full
alignment with the Sheba MC requirements.
Following the dynamic video, the system will examine participants' understanding by a short
interactive quiz that summarizes the relevant topics presented in the video. If the user
answers wrong twice, he or she will be directed to the section in the video that provides the
information to answer correctly. It is important for the usability study to test the
responsiveness of the participant to sign the electronic Informed Consent following the
personalized introductory video. The investigators believe that this video will provide a
clear and, in most cases, more thorough explanation than the common face-to-face explanation.
e-Learning (general information on genetics and preconception): Provides education to the
participant on basic genetic principles and concepts by a series of short dynamic videos
making up an e-learning center.
On Board Dashboard for the Medical Staff:
A user-friendly dashboard will be accessible to relevant approved medical staff. It will
include all the information gathered from the participant during the completion of the
on-line registration and questionnaire process. Once the participant concludes the session of
Participant Enrollment (Pre-Test), all his/her data are presented on the medical staff
dashboard. A genetic counselor will be able to accept, reject, and/or revise the data. Next,
the genetic counselor will send the participant a signed summary letter (PDF) via the DGA
system, in a secured protocol (just as in the initial connection of the participant to the
Sheba MC application). This letter will present the information entered into the system by
the participant and invite him/her to perform the genetic test. Using the standard two-factor
authentication method based on phone number and the last four digits of the participants' ID
number, the participants will be able to view the report.
Counseling rationale - the logics of the DGA system (the "brain"):
This module processes participant information gathered during the participant enrollment
process in combination with the results of the CarrierScan screening test. Residual risk is
calculated automatically, and the system is ready to preset the medical staff with its
suggestion on how to proceed. The Genetic Counseling Dashboard presents the supervising
clinician with all relevant information for their approval or for further comments and edits.
The results of the genetic tests are uploaded to the Sheba MC secured cloud. All processes
described in this section also take place in the secure Sheba MC cloud.
Note: Only anonymization information of participants will be transferred to Igentify for
analysis, assessment and improvement of the system.
- DGA Algorithm: Next, the system utilizes its medically supervised genetic algorithm to
decide on the outcome of the genetic counseling (high or low risk). The algorithm takes
advantage of all relevant information in the system including the predictions of the
residual risk. The outcomes of the system are either a digital report generator (see
next section) or in the cases of couples that have been found to be at high risk, an
invitation to a face-to-face genetic counseling session.
- Genetic Counseling Dashboard (to medical staff in Sheba MC): Presents all the
information gathered from the participant to the relevant medical staff, enabling
decision-making regarding participant outcomes. The dashboard will enable the medical
staff to approve or reject the suggestion of the DGA algorithm with regards to the
participant's risk and the subsequent process. The system will raise flags in cases that
action is needed and will support the subsequent face-to-face/telephone genetic
counseling with reporting tools.
- Interface for genetic results: Enables the DGA to incorporate genetic results from
various genetic tests. In the current study, the DGA will work only with results of
tests done at the Sheba MC genetic lab for the expanded carrier screening (CarrierScan
and Fragile-X tests).
Counseling Summary Session:
Once the clinician approves the suggested decision of the DGA algorithm, this module is
responsible to generate two types of outputs. Low risk participants (namely couples that were
not found to be carriers of mutations in the same genes) are approved to receive an automated
digital report (personalized video), while high risk participants are urged to schedule a
face-to-face genetic counseling session. In high risk cases, the genetic counselor will have
the digital information provided by the participants and the genetic test results, to make
the counseling process more effective. The threshold of high/low risk assignment is
determined by the head of the Sheba Genetic Institute.
- Digital Genetic Counseling Report Generator: This component generates an animated,
personalized dynamic video and a hard copy report (in PDF format) summarizing the
genetic counseling provided to the participant online. Using the standard two-factor
authentication method based on phone number and the last four digits of the
participants' ID number, the participants will be able to view the personalized video
and download the reports.
- This module is responsible to coherently convey all personal and mandatory messages
compatible with the guidelines of the Sheba Genetic Institute. The report is
machine-generated and approved by medical personnel before its disclosure to the
participant.
Having the DGA video available to the participants will allow them to review it repeatedly,
until full understanding of the topic is achieved, as self-assessed by the participant. Each
review will be recorded for medico-legal purposes.
• Support for In-Person Genetic Counseling: Face-to-face genetic counseling for high-risk
participants will be aided by the system. The system dashboards will present the genetic
counselor with a full report containing all gathered information to-date, which will be
augmented with digital tools, such as pedigree editor and short self-explanatory animated
videos aimed to facilitate an effective session.
