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 has also partnered with PatientCrossroads to make GenomeConnect possible. PatientCrossroads recently joined forces with Invitae Corporation, a genetic testing company. Both Invitae and PatientCrossroads share common commitments: patients own their data; permission-based sharing of patient data can be valuable to improving patient outcomes; patients should decide what's best for them; and disrupting the traditional models removes barriers to diagnosis and treatment. Participation in the GenomeConnect registy will not change because of this merger.
Do you have a social media presence?
- Yes! GenomeConnect has a Facebook page and also a Twitter handle @GenomeConnect. We even have a Pinterest account!
- 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.
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.
Is enrollment only for US patients?
We welcome participants from any country in the world! GenomeConnect is open to adults (age 18 and older) and minors under the age of 18 who have the consent of a parent or legal guardian meeting at least one of the following criteria:
- Have already had genetic testing
- Are considering genetic testing
- Are a family member of someone who has had genetic testing
How do you make sure genetic variant data isn’t duplicated in databases?
- Duplication may sometimes happen, but we minimize this by notifying labs when a person has joined GenomeConnect.
- We alert labs using test-specific “accession numbers” listed on test reports rather than information like name or date of birth.
Is health information reported by patients accurate?
- It is the belief of the GenomeConnect team that patients 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 institution.
- We are currently working to validate the GenomeConnect health survey with a subset of GenomeConnect participants at two separate institutions. Although we will not validate the survey for each GenomeConnect participant, these studies will allow us to evaluate the effectiveness of our health survey in capturing health history.
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 they can’t register for GenomeConnect?
- For now, we encourage providers to learn about GenomeConnect so they can notify their patients and encourage them to enroll.
- We are in early discussions about how we might allow providers to give information to GenomeConnect with the permission of patients already enrolled, or contribute variant data directly to databases.
- ClinGen is also investigating other possible avenues for including individual providers who want to help contribute variant data to genomic databases like ClinVar.
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.
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 patient-friendly information available at clinicalgenome.org, including:
- Written language that can be copied and pasted into a patient letter
- A place to request a packet of printed materials for handing out to patients
- A printable one-page PDF document to share.
Staying involved in the data-sharing movement and encouraging laboratories to share variant data are the most valuable contributions of providers!
And, of course, if you have had genetic testing and are interested in sharing your health information, you are welcome to join GenomeConnect!
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 where they wish.
I have had exome or genome sequencing. Can I share my report?
Yes! We will accept your clinical or research exome report.
What we will not accept:
- We are not able to accept “raw data” data files from exome and genome sequencing. “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.
When did you launch and how many participants do you have?
- GenomeConnect was launched in October 2014. As of August 2017, we have over 1250 participants that have consented to be a part of GenomeConnect!