SOW.pdf

Electronic Informed Consent (e-Consent) for eyeGENE® Initiative

Version 1.1

National Institutes of Health

National Ophthalmic Genotyping and Phenotyping Network (eyeGENE®)

6/6/2024

Contents

1. Introduction

1.1 Background

1.2 Scope

1.3 Objectives

2. Requirements

2.1 Tasks

2.2 Assumptions

3. Security REQUIREMENTS

1. Introduction

1.1 Background

The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) is a research venture created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH).

eyeGENE® aims to advance studies of eye diseases and their genetic causes by giving researchers access to DNA samples, clinical information, and patients looking to participate in research studies and clinical trials.

As of the December 31, 2015, eyeGENE® had accrued 6,400 participants’ clinical data and corresponding bio-samples. The original scope of consent that participants agreed to was to engage in studies of ‘eye disease’. This is generally assumed to limit the types of genetic testing and other potential cross-cutting research that may be proposed over time. As research methods have changed significantly since the beginning of the Program, eyeGENE® would like to consent participants to allow their information to be used in research that may not be strictly vision-related. For instance, recent advances towards gene discovery allows screening of an individual’s whole genome or whole exome. Many research requests have been made for eyeGENE® to allow this type of screening to further understand the genetic mechanism of disease. Yet, the American College of Medical Genetics and Genomics (ACMG) recommends reporting select secondary findings when whole genome or whole exome testing is performed. These secondary findings are not likely related to vision; therefore eyeGENE® samples cannot not to be used for this purpose. It is extremely desirable to allow this sort of expanded screening as thousands of eyeGENE® participants have not had the genetic cause of their disease identified.

For the limited eyeGENE® staff to individually consent 6,400 participants would be extremely burdensome, inefficient and costly, so the Program is planning to add an electronic consent and comprehension web-based option for consent. The application will not only allow for the participant to provide consent for expanded research use and allow the program to reconsent participants who were enrolled as minors when they reach the age of majority.

1.2 Scope

To fulfill its clinical research mission, eyeGENE® requires electronic informed consent capabilities to allow for re-consent of over 6,400 existing eyeGENE® participants (eyeGENE Stage 1 reconsent). This is necessary for changes in response to technology advances (e.g. whole genome/exome sequencing and the possibility of secondary findings, etc.) and in staying compliant with NIH’s evolving stance on genetics and clinical consents.

Version 1.1 Statement of Work (SOW) covers the implementation of an e-consent software solution. A web application is needed to provide participants the ability to review elements of the consent document(s), test participant consent comprehension and allow for electronic signature and the storage of consent records. The solution requirements are listed below in Section 2.

1.3 Objectives

Through this contract, the Company shall supply the Customer a solution which includes a hosted instance of the e-consent web platform, impersonation or test account services, implementation services (one-time setup) and professional services. The Customer solution shall be configured to include the following modules, end-points, capabilities, services and support.

Study Mobile Web Landing Page

Privacy Policy & Terms of Use

Coordinating Center Dashboard

Audit Log

Participant Registration e-Signature (Consent, Assent, LAR)

Comprehension Check (e-quiz)

REQUIREMENTS

2.1 Tasks

Task 1. Platform hosting and maintenance – The platform license is inclusive of platform hosting and maintenance as follows:

• High availability cloud hosting environment managed and monitored by Company

• Management of the solution, to include all necessary software and hardware maintenance

• Compliance with applicable standards, regulations and guidelines including those applicable to the federal government

• System training and platform user guides

• End user, site, and administer support

Task 2. Professional Service - Professional services in support of platform management, eConsent processing, distribution and management, content management and reporting. Professional Service are to be billed as time and materials. Platform Support Package includes:

• Copyright and Creative Support

• Language translations

• Managed Services

• Solution Enhancements

• Training

Task 3. System Requirements - The list of requirements for the application functionality are as follows:

• 21 CFR Part 11 compliance

• WCAG 2/508 compliance

• Compatible with screen reading software (i.e. JAWS)

• On-demand signed and countersigned consent access and download for Customer and

Participant users

• Participant structured data bulk download

• Application must support more than one consent process

• Customer access to Participant interface for demo use and system testing

• Ensures appropriate government encryption, security, etc. for both archive and retrieval.

• Application will have the ability to embed video content with closed captioning and transcription options.

• Application will include comprehension check (quiz) and record and report user question responses.

• Participant requirements for personal details to confirm their identity. If the participant has already completed the consent process, the user will be directed to a screen informing them that they have already completed the consent process.

• Opt in/opt out selections within consent form and Customer bulk participant response export options.

• Participant eSignature requirement to complete consent process.

• After eSignature, an automated email will be sent to the participant with a copy of the completed consent.

• Participants will be sent email reminders to complete their consent if incomplete.

• The application will include a ‘More Information’ link which will direct users to eyegene.nih.gov in a new browser tab.

• The application will specify to contact program administration with any questions throughout.

The application and all subsequent pages on the website will include contact info and links for the NIH Terms of Services, Privacy Policy, and Antispam Policy.

• Search functionality by participant name minimally. Preferred search function to include participant age, date of consent signature, and status (complete, incomplete, not started).

• Basic summary statistics available in administrative dashboard, including how many participants have completed consent.

• Ability to download all participant dashboard data in bulk and consent forms if application is retired or at the end of contract term. Vendor will be expected to comply with official NIH record retention policies.

• Application will send an automated email invitation to study participants for registration in the application.

2.2 Assumptions

• The company will not be held responsible for delays in the timetable due to unavailability of data or resources from Customer participating in the project. The target dates will be adjusted accordingly to account for those delays.

• Company will have reasonable and timely access to business and IT representatives from the eyeGENE® staff dedicated to the project.

• Company will help identify dependencies and possible areas where slippage might occur.

• Timelines will be dependent on the availability of eyeGENE® resources and outputs.

• No scope of work is implied unless explicitly addressed in this document.

• All dates and timelines referenced in this SOW are subject to change based upon modifications to Project scope and/or dates as approved by Customer, and mutually agreed to by both parties.

• All deliverables requested by eyeGENE® are completed in accordance with this SOW.

The eyeGENE® team will assign a single point of contact to support the team with setting the direction of the project, obtaining access to eyeGENE® information, scheduling meetings/interviews with key resources, and reviewing and approving deliverables. eyeGENE® Coordinating Center resources will support data conversion and Quality Assurance tasks for the project. eyeGENE staff will be responsible for submission of materials to the NIH Institutional Review Board.

SECURITY REQUIREMENTS

• 21 CFR Part 11 compliance

• WCAG 2/508 compliance

2. Security REQUIREMENTS