Leading with quality: Data sharing

Only through real and meaningful data sharing can the field of genetics reach its full potential. At Invitae, we’re dedicated to improving medicine not just by sharing segments of our data, but by sharing all variants, classifications and evidence. That’s not yet the industry standard—but it is at Invitae.

Among other activities, Invitae has played a leading role in ClinVar and ClinGen, two NIH-supported programs dedicated to sharing clinical genetic testing data and knowledge in order to advance patient care. For the past three years, Invitae has consistently been one of the top data contributors to ClinVar.

Why should labs like Invitae share genetic data?

The American College of Medical Genetics (ACMG) recently stated that the sharing of de-identified genetic data is “crucial” to the advancement of personalized medicine. The ACMG joins the American Medical Association (AMA), the National Society of Genetic Counselors (NSGC), and other professional societies in making this strong practice recommendation.

The sharing of data through ClinVar is unique in that it allows ongoing:

  • inter-laboratory quality control
  • detailed peer review of variant classifications
  • consensus classification by the global community of experts

No other mechanism, including published scientific papers, solves these important problems.

What is Invitae’s approach to data sharing?

Invitae submits all clinically reported variants, their classifications (i.e., pathogenic, benign, VUS, etc.) and the underlying evidence for and against pathogenicity to ClinVar.

Invitae regularly updates these submissions. All data in ClinVar are freely available to the global community to use for any purpose. Details are available in our FAQs.

What is the long-term benefit of sharing data?

Expert variant curation teams have been set up by the ClinGen consortium to review these public data and work toward consensus interpretation where there is disagreement. In addition, these data are used to to help improve variant interpretation guidelines for the entire medical genetics community. These public data are essential for ongoing quality improvement in personalized medicine.

Test your testing providers

We encourage you to ask the following important questions of your lab:

  • Does the lab share all clinically observed variants and their classifications?
    • Some labs limit sharing only to variants with “high confidence” classifications, perhaps to avoid having their less confident interpretations scrutinized by outside experts. Invitae submits all clinically reported variants.
  • Does the lab place their data in an open, free and unrestricted public database, like ClinVar?
    • Many databases do not meet this important standard.
  • Does the lab submit detailed evidence underlying each classification?
    • There are many labs that do not submit detailed evidence underlying all of their classifications. At Invitae, we realize how important this is and make sure all underlying evidence is submitted to ClinVar.
  • How often does the lab share data and update previous submissions?
    • Invitae regularly submits new data and updates our existing data. We realize the benefits of sharing this information with the global community.
  • Have you reviewed the lab’s written policy on data sharing?
    • You can access Invitae’s policy here.

If you have any questions about Invitae’s approach to data sharingor about our overall dedication to high quality testingplease don’t hesitate to contact Client Services. We look forward to hearing from you.