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 information 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. 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 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.
How is Information Shared?
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.
How is Privacy Protected?
GenomeConnect is very serious about protecting the privacy of participants. AltaVoice (also known as PatientCrossroads) 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) and the Federal Information Security Modernization Act (FISMA), two federal acts that aim 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.
What Information Will be Shared?
By participating in this registry, you will be sharing the following information:
- Your Genetic Test Results
- 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.
- If more than one genetic change was found and reported, these are called “linked variants” and may be shared together (“linked”) in some databases.
- 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.
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.
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 can be found under documents.
Are providers at risk for encouraging their patients to share copies of their genetic test reports?
Patients are a part of the healthcare team, and once they know their personal health information they are free to share it how and where they wish.
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.
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.
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?
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.
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. 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 built on the PatientCrossroads platform. PatientCrossroads is a subsidiary of Invitae.
Do you have a social media presence?
- Yes! GenomeConnect has a Facebook page and also a Twitter handle @GenomeConnect. ClinGen also have 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.
Does PatientCrossroads, a subsidiary of Invitae store the data “in the cloud”?
The data from GenomeConnect is hosted by AltaVoice (PatientCrossroads) using Amazon Web Services cloud-based services. The data is stored in a cloud database but this database is in private, secure network and is not accessible to those outside of the registry.