Provider FAQs: Research and partnerships
Research and Partnerships
- What is the Invitae Patient Insights Network℠ (PIN)?
The Invitae PIN is an online platform where individuals can take surveys, upload medical records, track health outcomes, and learn about the latest research and clinical trials. Learn more by visiting our Invitae Patient Insights Network page.
- What sponsored testing programs does Invitae offer?
Click here to see a list of our sponsored testing programs.
- Who can I contact about possible partnerships?
If you are interested in partnering with Invitae, please send an email to genomenetwork@invitae.com.
Data sharing
- Does Invitae contribute to ClinVar?
Invitae believes knowledge is more valuable when shared. We currently contribute variants to ClinVar approximately every 6 months. It takes several months for ClinVar to process and post our submissions.
- Which variants does Invitae submit to ClinVar?
As a matter of policy, Invitae submits all clinically observed variants to ClinVar, with a few exceptions:
Benign common polymorphisms, observed in public population databases, have historically not been submitted to ClinVar. However we intend to add those in the near future in order to be complete. Only variants in clinically requisitioned genes are submitted.
- What information about variants does Invitae submit to ClinVar?
Invitae submits clinically observed variants with their pathogenicity classifications and the date of that classification. Importantly, a summary of the underlying evidence for and against pathogenicity is also provided for each variant, with some exceptions:
Evidence descriptions have not been included for most submitted benign or likely benign variants. We intend to add these descriptions in the near future. Some older classified variants do not have evidence descriptions submitted. Variants without classifications do not include evidence descriptions.
- Why does Invitae submit data to ClinVar?
Data sharing through ClinVar allows ongoing (a) inter-laboratory quality control, (b) detailed peer review, and (c) consensus interpretation for each and every variant classification by the global community of experts. Invitae submits data per recommendations of the American Medical Association (AMA), the National Society of Genetic Counselors (NSGC), and other groups.
These public data are essential for ongoing quality improvement in personalized medicine. Expert variant curation teams have now been set up by the ClinGen consortium, which are reviewing ClinVar classifications in their respective areas of expertise. Not only do these teams work towards consensus interpretation (particularly in cases where there is disagreement) but also they use this information to help improve variant interpretation guidelines for the entire medical genetics community.
- Have Invitae’s data submission practices been approved by an IRB?
Yes. Please contact us for details.