Personal Genome Project

How it Works

Step 1: Informed Consent

Informed consent is a process where individuals gain an understanding of relevant information in order to make a thoughtful decision about whether to voluntarily enroll in a research project. For the PGP, the informed consent process involves three activities:

1) Education: Prospective participants familiarize themselves with all aspects of the PGP, including benefits, risks, and study protocols. Individuals make a determination of whether any personal factors exist, such as strict privacy preferences, that may influence their decision to participate.

2) Assessment: The PGP is developing an online exam that will assess a prospective volunteer's comprehension of concepts relevant to providing informed consent to participate in the PGP. This exam will include concepts such as potential risks of participating, project protocols, and basic genetics.

3) Consent: To enroll, invididuals must submit a signed legal document called a consent form. The consent form will need to be signed in the presence of a licensed health care professional, such as a family physician.



Step 2: Participant Profile

Individuals enrolled in the PGP will create a participant profile that contains many different types of personal information. This information will be collected from questionnaires, tissue sample analyses, and medical record submissions:

1) Questionnaires: To create a participant profile, volunteers will be asked to complete online questionnaires that will include topics such as allergies, immunizations, medical history, medications, physical traits and measurements, diet, ancestry, lifestyle, and environmental exposures. Participants will be asked to periodically update and add to this information.

2) Tissue samples: Volunteers will be asked to submit a tissue sample (either a blood sample, saliva sample, or cheek cells collected by swabbing inside the mouth). The tissue sample submitted will permit PGP scientists to perform DNA sequencing and other biological measurements. The data generated from these procedures, such a genome sequence, will be added to the participant profiles. Tissue samples will be collected by a licensed health care professional, such as a family physician.

3) Medical records: In order to confirm or extend information in a participant's profile, the PGP may ask participants to voluntarily submit electronic medical records if they are available. Participants will be able to redact any information in their medical records that they do not wish to share.



Step 3: Disclosure

Access to the information in a participant profile is controlled by the individual participant. They can choose from three levels of access described below. While some levels do limit access to specific groups of individuals, participants should understand that anonymity and confidentiality cannot be guaranteed at any level.

1) Default Access: Only the participant him/herself and a small number of researchers who have obtained PGP security clearance will be granted access to participant profiles. The names of all people with access will be approved by the participants in advance. This is the default level of access for all participant profiles.

2) Controlled Access: Participants can opt-in to have their participant profiles accessible to researchers generally, screened via NIH dbGAP or similar mechanisms.

3) Public Access: Participants can opt-in to have their participant profile made available on a publicly accessible website.



Step 4. Communication

The PGP is an prospective study that will collect information from participants for a period of 25 years, although participants can leave the study at any time. Over the course of the research study, participants will communicate and engage with the PGP in at least the following ways:

1) Safety monitoring: The PGP has a Data Safety Monitoring Board (DSMB) that monitors the impacts of the PGP on enrolled participants. Every three months, participants are required to respond to an email from the DSMB that asks whether any adverse events have occured as a result of participation in this research study.

2) Profile updates: Participants may receive invitations to voluntarily submit additional types of personal information and tissue samples as the study progresses.

3) Project updates: The PGP will keep participants informed about achievements, new initiatives, and other project related activities.