A participant first completes a detailed consent form, which clearly explains the study and how the data are to be used. A research assistant is available to answer any questions or provide more explanation.
After completing the content form, a participant donates a blood sample that is drawn during routine medical care. In most cases the sample is no more than one or two tablespoons.
Participants also consent to researchers accessing relevant information from their medical records. This is information excludes personal information so that a participant cannot be identified.
Participants' samples may undergo targeted sequencing (reading of only specific genomic regions of interest), exome sequencing (reading the coding regions of the genome) or genome sequencing (reading of the whole genome). Over a period of months to years, the researchers will compare the genetic information against medical histories. This will allow researchers to uncover new associations between genetic variants and diseases, disorders, and medical conditions. New discoveries that may impact medical care will only be reported publicly on a group basis - ensuring the privacy of participants.
Anticipated Research Findings
Geisinger and Regeneron hope that further studies using this data may lead to new preventive treatments and therapies for a broad range of diseases and conditions.
Geisinger will report research findings through this website, through general and medical literature, and through news announcements, as appropriate.
It is possible that researchers will identify a medical condition or genetic variant that might call for further testing, monitoring, or treatment for a specific patient. When the results are "medically actionable" (i.e., could be addressed through preventive measures, treatment, etc.), then the patient's physician and the patient will be notified. Geisinger experts will be available to assist the physician and the patient with the results. Educational materials and care guidelines will be made available as needed.
At this time, Geisinger will not return information concerning untreatable conditions. In the future Geisinger may develop Institutional Review Board- approved research protocols for sharing other types of results with participants, with the goal of ensuring participant benefit.