Genomic data has emerged as a promising way to enable researchers to make novel discoveries about human disease, and methods of treatment. However, large amounts of diverse data sets are necessary to ensure scientific rigor.
In addition to the need for large cohorts, there is the need for research to immediately remedy the lack of participant diversity in racial, ethnic, and other markers of demography.
The Mount Sinai Million study is the first million-person genomics-led longitudinal program in close collaboration between a health system, pharma and a digital health company. The initiative aims to gather and build a repository of molecular and clinical data (as well as a repository of biospecimens) from one million racially and ethnically diverse Mount Sinai Health System patients.
By building these data and biospecimen biorepositories, the study will promote a new wave of biomedical research, one which will have the capability to accelerate discoveries into the nature and treatment of human disease.
The primary aim of the Mount Sinai Million program is to establish a data repository that links genotypic and phenotypic data on one million individuals, over the course of six years.
The data and biospecimens in these repositories will be used by multiple researchers for multiple purposes, enhancing the utility of the data and biospecimens. Ultimately, Mount Sinai Million will spearhead a new approach to large-scale population genetic research with the potential to affect the medical care of millions of individuals.
This Mount Sinai research team will recruit 1,000,000 participants over the next 6 years, according to the eligibility criteria:
Participants will be recruited at any Mount Sinai Health System site including Mount Sinai Hospital, Mount Sinai West, Mount Sinai Morningside, Mount Sinai Beth Israel, New York Eye and Ear Infirmary of Mount Sinai, Mount Sinai Queens, and Mount Sinai Brooklyn.
Participants to be enrolled
Years enrollment period
The Mount Sinai Million study team determined to collaborate with Vibrent Health to develop a study infrastructure that would accelerate eConsent and data collection for participants. As part of this collaboration, Vibrent implemented a highly secure and privacy preserving participant portal and eConsent experience built on Vibrent’s Participant Experience Manager and Research Cloud products.
The study uses the following methods of data collection:
All participants can create an account for themselves on the participant portal for the Mount Sinai Million initiative. This portal, available as a web or mobile application, runs on the Participant Experience Manager, and provides participants access to surveys, data collection, their user account details, return of results and more information.
Vibrent Research Cloud provides a secure, decentralized eConsenting platform for the Mount Sinai Million program through its website features. Participants watch an educational study video on the Vibrent’s platform, then review the consent. Research Cloud also enforces a baseline level of informedness for consent, as participants must answer at least 3 out of 5 consent questions correctly to demonstrate study understanding before signing. If after 3 attempts a participant cannot demonstrate study understanding, the participant is not allowed to self-consent and a member from the study will contact them to review and sign consent.
Data and EHR Verification
Verification that the participant is a Mount Sinai Health System patient takes place on the secure Participant Experience Manager platform. Participants provide a few specific details about themselves and this information is matched against Mount Sinai Health System records automatically.
EHR Data Collection
The Mount Sinai Million program collects participant electronic health record data (EHR) and combines it with phenotypic data for the study, including survey data for use in a broad range of research. EConsent for this data collection is also acquired through the participant portal, running on Vibrent’s Participant Experience Manager. Data types collected from the EHR include:
Participant-Generated Data & Surveys
The study obtains information from participants through optional surveys, also run through Participant Experience Manager. Surveys are sent electronically to participants multiple times per year until they withdraw participation or the study ends. The data collection in these surveys includes:
Biospecimen Sample Collection
Biological specimens are obtained from consented participants using:
The Mount Sinai research study team performs outreach to potential participants through study coordinators, MSHS clinicians and staff, and IRB-approved educational study materials disseminated through different platforms and technologies – in-person, phone, brochures, pamphlets, flyers, advertisements, social media, emails, mail, QR codes, and MyChart notifications and messages.
To identify patients who have already consented, previously refused to participate, or withdrew to ensure that they are not approached again for consent, the study team uses EPIC, as well as Vibrent Health’s Research Cloud. Potential participants may be contacted using one of the following features of Research Cloud:
For all methods of recruitment, interested individuals are directed to the study website, built through Vibrent Research Cloud. The website includes introductory information about the study, FAQs, and links to the study consent form.
Email and SMS recruitment
Study staff reach potential participants through personalized email and SMS messages to existing lists of contacts, including those within the Mount Sinai Health System patient data repository. Potential participants can select their preferred method of communication.
All adult patients seen within Mount Sinai Health System who meet the eligibility criteria will be asked to participate. Study team members and clinicians pre-check for eligibility and prior consent using Research Cloud, and then can enroll and assist with eConsent using forms within Research Cloud. Interested individuals can also download the mobile app or navigate to the web application on their own mobile device on which they can review the audiovisual content and provide eConsent.
Participants can be engaged on an ongoing basis by receiving communications via email, push notifications or SMS messaging, including notices of completion of activities (e.
,g. consent, specimen collection), reminders that action is needed or availability of new surveys, and when errors or problems occur (e.g. locked out of account, forgot password).
In addition to outbound messages, participants are engaged through the participant portal, run on Vibrent’s Participant Experience Manager. Participants can access the portal through the web or mobile application, and gain access to information about their participation, including:
The Mount Sinai Million study team aims to enable a wide range of critical discoveries with this ambitious research program. Potential outcomes could include novel therapeutics to treat, cure, and ultimately prevent disease.
The study also aims to promote a newfound understanding of what health itself means at the genetic level. The ethnic and racial diversity of Mount Sinai’s patients is a large contributing factor to the scientific value of this research, and Mount Sinai Million aims to dramatically expand the knowledge of the biological basis of all common diseases that affect people across the globe.
The Mount Sinai Million program marks the first time a health system of this size and diversity has integrated genomic analysis into routine clinical decision-making to understand the impact of genetic variations on human health and disease.