Questions from Participants
Is enrollment only for US patients?
We welcome participants from any country in the world! At this time, the consent form is only available in English, so potential participants need to be able to read and understand English. GenomeConnect is open to both adults (age 18 and older) and minors under the age of 18 who have the consent of a parent or legal guardian who have had genetic testing. Although participants are welcome from around the world, the GenomeConnect team is unable to process and submit data from participants in the European Union due to recent changes to the General Data Protection Regulation (GDPR).
I have had exome or genome sequencing. Can I share my report?
Yes! We will accept your clinical or research exome report that provides information about genetic changes that were found and their relation to health/disease.
I have had direct to consumer or ancestry testing. Can I share my report?
We are not able to share infomration from “raw data” data files from direct to consumer testing, ancestry testing, or exome/genome sequencing. Participants are still welcome to upload these reports since our ability to share may change in the future. “Raw data” means that the genetic information has not be interpreted by the laboratory. These types of genetic results may be known as a raw data file or VCF file and include thousands of lines of your genetic information usually in the letters A, T, G, and C. “Raw data” files often need to be requested from the testing laboratory.
My gene is not listed in the Participant Matching Feature? Can it be added?
In the GenomeConnect Participant Matching feature, we use the uploaded genetic testing reports from participants to create the searchable gene list. Once a participant uploads their report, our team of genetic counselors review the report and any genes listed are added to the searchable gene list. To help ensure that your gene is added to our searchable list, we ask that you upload a copy of your genetic testing report to your online account. Please be sure to include all pages of the report. Including all of the pages and all four corners of each page helps the GenomeConnect staff make sure that we can collect all of the information about the genetic testing results. A short video on how to upload his results can be found here. If you no longer have a copy of your report, our team can help you request one.
My diangosis is not an option in the "Health Reason for Registration" field. Can you add it? What do I put?
The "diagnosis" field during registration is only one small piece of data that is collected by GenomeConnect. The diagnoses listed are based on a structured list of clinical and genetic diagnoses from MONDO; we do not set these ourselves, but we do use them as they are a recognized standard in the field. These standardized identifiers allow us to communicate computationally within our own databases and with other groups. We recognize that not all individuals and families enrolling GenomeConnect will have a diagnosis that corresponds to one of these MONDO terms. Because of that, we encourage families that do not find an appropriate term to select “Other disease or health condition.” This option exists so that families do not have to select a diagnosis that does not apply to them. As I mentioned, this diagnosis field is just one way that genetic and/or health data is collected through GenomeConnect. Much more detailed health information is collected through the health survey completed by individuals and families and genetic information is collected directly from the genetic testing reports that participants upload to their accounts.