Who is supporting GenomeConnect?
GenomeConnect is a not-for-profit project developed by the Clinical Genome (ClinGen) Resource to engage patients as partners in data sharing efforts. ClinGen, including GenomeConnect, is primarily funded by the National Human Genome Research Institute (NHGRI), through the following three grants:
- Baylor/Stanford U24HG009649 (with co-funding from the National Cancer Institute)
- Broad/Geisinger - U24HG006834
- UNC/Kaiser - U24HG009650
Researchers and clinicians from many different institutions are collaborating as a part of ClinGen, a project designed to create tools and resources that help us understand how genetic changes affect human health. GenomeConnect is one ClinGen effort. The GenomeConnect registry is governed by the Geisinger institutional review board and is built on the Tempus Dynamics platform.
Do you have a social media presence?
Yes! GenomeConnect has a Facebook page, a Twitter handle @GenomeConnect and a Linkedin Account - GenomeConnect. ClinGen also has a Youtube channel with a GenomeConnect playlist! Follow us, “like” us, re-tweet our tweets, and tell your friends and family about us. The more people who know about GenomeConnect and participate, the more knowledge we will gain about the human genome, and the sooner we will be able to help make desired connections between similar participants, and between genetic researchers and participants.
Steps to Participant?
- Sign-up at GenomeConnect.org. As you sign-up, we will ask you some questions about yourself and tell you important details about GenomeConnect.
(If you want to enroll your child, please complete “Create new account” form and “Registration” survey with your name, date of birth, and additional details. You will be able to add children/dependents later in the registration process.) - Share a copy of your genetic testing results. We use individuals' genetic testing reports to collect important information about the genetic change(s) that may have been found through genetic testing. Learn how to share.
- Complete a health survey questionnaire in your registry account to capture a snapshot of your overall health. View a sample health survey.
- Connect with other participants, learn about other research opportunities, and potentially receive updates about your genetic test results. Learn more
Who is eligible to enroll?
We welcome participants from any country in the world who have completed genetic testing! At this time, the consent form is only available in English and Spanish, so potential participants need to be able to read and understand English or Spanish. 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 currently unable to process and submit data from participants in the European Union (EU), European Economic Area (EEA), and United Kingdom (UK) due to provisions in the General Data Protection Regulation (GDPR).
GenomeConnect Changes as of September 2024
What has changed?
GenomeConnect switched registry platforms to Tempus Dynamics in August 2024. Tempus Dynamics is a medical informatics technology solutions company that specializes in designing and hosting HIPAA compliant patient registries. The GenomeConnect account dashboard may look different. Participation in GenomeConnect has not changed – participants are asked to consent, upload their genetic test results, and share health history via surveys.
How does this impact me?
If you previously enrolled in GenomeConnect on our prior platform, you are still enrolled in GenomeConnect. There are a few steps needed to update your account on the new platform. You will be prompted to complete these steps when you login.
For Individuals that enrolled themselves before August 2024:
- Reset your password on the new platform
- Go to the GenomeConnect login page: https://research.genomeconnect.org/login
- Select "Forgot Password"
- Enter the email address you previously registered with, then select "Reset Password"
- A password reset email will be sent with a link to reset your password
- Email will be sent from GenomeConnect Registry Coordinator: info@genomeconnect.org
- Select the link provided in the password reset email and enter a new password
For Individuals that Enrolled Children and/or Dependents before August 2024:
- Reset your password on the new platform
- Go to the GenomeConnect login page: https://research.genomeconnect.org/login
- Select "Forgot Password"
- Enter the email address you previously registered with, then select "Reset Password"
- A password reset email will be sent with a link to reset your password.
- Email will be sent from GenomeConnect Registry Coordinator: info@genomeconnect.org
- Select the link provided in the password reset email and enter a new password.
- If you enrolled your children and/or dependents and did not also enroll, you will be asked to complete a GenomeConnect consent and update your own account details so that we have them on file.
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- On the dashboard, you can update account details such as date of birth, email, contact preferences.
- Required consent forms will be assigned, if not already assigned.
What happened to my data from the previous registry?
If you enrolled in GenomeConnect before August 2024, you are still enrolled. All your data will be transferred over to our new platform. At this time, you may not see any previously completed surveys or uploaded reports as we are working on transitioning your data. GenomeConnect will continue to share information about additional research opportunities and provide updates about genetic results with interested participants. You also can complete additional steps you have not completed like uploading your genetic test results and sharing your health history via surveys.
I am experiencing issues registering my child/dependent.
GenomeConnect is designed to allow individuals to enroll their dependents (for example children under the age of 18 or adult for whom they can make medical decisions). If an individual wants to enroll a dependent, first, they create an account for themselves. If you want to enroll your child, please complete “Create new account” form and “Registration” survey with your name, date of birth, and additional details. You will be able to add children/dependents later in the registration process.
I am unable to enter a date of birth.
During the registration process, the date of birth format is month, day, year. However, the default year is the current year. To enter a date birth, start by changing the year field to the birth year. Then modify the month and day to the participant's date of birth.
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. I see that you have not yet uploaded your genetic testing report to your account. 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 results. If you no longer have a copy of your report, our team can help you request one:
What information will be shared?
By participating in this registry, you will be sharing the following information:
- Your Genetic Test Results
- If more than one genetic change was found and reported, these are called “linked variants” and may be shared together (“linked”) in some databases.
- For example, if you have had a test looking for changes in a particular gene, and you upload that test result, information on that test result will be shared.
- Your Health Information
- It is the belief of the GenomeConnect team that individuals are often the best historians at their (or their child’s) health history, often with a more complete history than any one doctor or the electronic health record at one medical institution.
- For example, if you report that you have had a heart defect requiring surgery, you have been diagnosed with autism, and you have diabetes, this information will be shared.
- For example, if you report that you have had a heart defect requiring surgery, you have been diagnosed with autism, and you have diabetes, this information will be shared.
- It is the belief of the GenomeConnect team that individuals are often the best historians at their (or their child’s) health history, often with a more complete history than any one doctor or the electronic health record at one medical institution.
What information will NOT be shared?
- Your Personal Identifying Information
- Information such as your name, date of birth, or email address will NEVER be shared with anyone other than registry staff without your permission.
- Information such as your name, date of birth, or email address will NEVER be shared with anyone other than registry staff without your permission.
How is information shared?
GenomeConnect is approved by the Geisinger institutional review board (IRB). GenomeConnect will share the deidentified health and genomic data you provide with approved users and databases. The current approved users and databases are detailed below:
- The Clinical Genome Resource (ClinGen): ClinGen is a project funded by the NIH that is focused on understanding the role that genetic changes play in human health and development. This includes GenomeConnect staff, who will need access to this information to perform their job duties. ClinGen is the guardian of the information contained within the registry and is responsible for collecting, storing and sharing the data. Clinical Genome Resource (ClinGen) staff authorized by ClinGen may also have access to individuals' deidentified genetic and health data for ClinGen related activities.
- ClinVar: ClinVar is a publicly available database of genetic changes and their reported relationship to human health. ClinVar is maintained by the National Center for Biotechnology Information (NCBI), a group within the NIH and is available to anyone with internet access, though the most common users are doctors, researchers, and other genetics professionals. This is the main database where individuals' deidentified information is shared. Data shared never includes identifiers like name, birthday, or email address
- Other public and controlled access databases: The information you submit (WITHOUT your personal identifying information) will also be shared with different databases. This is to allow different members of the scientific community and general public to learn from your deidentified health and genetic information. We will NEVER share your personal contact information with any database. See a list of approved databases here.
- Geisinger Institutional Review Board: The committee that oversees this project
How is privacy protected?
GenomeConnect is approved by the Geisinger institutional review board (IRB). GenomeConnect is very serious about protecting the privacy of participants. GenomeConnect is on the Tempus Dynamics platform. Tempus Dynamics has tight security measures in place to protect the servers where your information is stored. These safeguards have achieved standards for compliance with the Health Insurance Portability and Accountability Act (HIPAA), a federal act that aims to protect individuals’ privacy.
Who will have access to the data contributed by GenomeConnect participants?
- Any data that gets transferred out of GenomeConnect is deidentified, meaning personal information like name, date of birth, etc. is removed.
- The only people with access to identifiable information about participants such as name, date of birth, etc are a limited group of registry staff.
Do you give out patient contact information?
- We never share any identifying information including your email address.
- Access to email addresses is limited to a small group of registry staff that will only use your email address to get in touch with you about your participation in GenomeConnect, provide you with information about additional research opportunities and surveys that may apply to you.
What is the best way for providers to be involved with GenomeConnect?
Sharing information with patients about GenomeConnect and encouraging participation are the best ways for a provider to help with efforts at this time. We have resources to help inform patients about GenomeConnect. Resources including language that can be copied and pasted into a patient letter and a printable one-page PDF document to share (English/Spanish) can be found under documents. You also can request free informational postcards to share with your patients by emailing info@genomeconnect.org.
Can healthcare providers (like genetic counselors and doctors) contribute variant data to GenomeConnect?
If a healthcare provider has had genetic testing and wishes to share their own health and genetic information, they are welcome to join GenomeConnect.
Registering for an account and providing health and variant data to GenomeConnect is confined to participants at this time.
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Healthcare providers can inform patients about GenomeConnect, assist patients in registering for an account at genomeconnect.org, provide their patients with electronic versions of their test reports, and help them upload their test reports to their accounts.
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Providers should NOT register for a GenomeConnect account, unless they have had genetic testing themselves and wish to participate.
How can healthcare providers help share their patient’s variant data if their patient cannot register for GenomeConnect?
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There is an option for clinical providers to contribute variant data to genomic databases like ClinVar. Review data sharing resources for clinicians.
A patient contacted me indicating that they received an email from GenomeConnect suggesting that there may be an update to their genetic testing result. Why did GenomeConnect reach out to this patient?
Genetic test results may list one or more genetic changes, each with an “interpretation” (what the laboratory thought each change meant in terms of health). Over time, as we learn more about genetic changes, interpretations may change. For example, a genetic change once classified as a “Variant of Uncertain Significance” can be changed to “Pathogenic,” or disease-causing based on new evidence.
When results are updated, some genetic testing laboratories will issue a new report to the doctor or genetic counselor that ordered the testing. Not every laboratory does this, however, and some healthcare providers ask that patients check-in regularly about their results. Patients should always follow-up with a healthcare provider to discuss any updates to genetic testing and how this may impact their care. GenomeConnect recognizes, however, that remembering to do this can be difficult.
GenomeConnect may learn through interaction with publicly available databases that the genetic testing report your patient shared with us has a variant interpretation that may be out of date. Individuals enrolled in GenomeConnect are given the option to receive such updates. If they elect to receive updates and the interpretation has been updated at the testing/performing laboratory, they are sent an email summarizing this and encouraging them to reach out to their provider that ordered testing or a genetics provider in their area. Next, you can reach out to the genetic testing laboratory that performed your patient’s testing to discuss any updates to their results and, if applicable, to request an updated testing report.