The field of genetics is constantly evolving as new data emerges linking genes and disease. As your partner in genetic testing, we’re working to gather the most up-to-date resources in one central location: this Genetics Resource Hub.
The hub also includes resources to help educate the rest of your patients’ healthcare team—and your patients themselves.
This resource page includes:
You see patients all day long, but what about the patients that are not getting referred to you or another genetics professional?
We have developed template letters that you can share with ordering clinicians in your clinic or institution that highlight the importance of genetic testing, the types of patients who should be referred, and space to add a personal note and your contact information.
The future of genetic testing: Making genetic information affordable and accessible to all
Randy Scott, PhD, discusses the future of genetic testing and how we can make genetic information affordable and accessible to all
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria
Keith Nykamp, PhD, discusses Invitae’s innovative approach to genetic variant classification, published in the October 2017 issue of Genetics in Medicine.
How to test a test
Steve Lincoln discusses the questions you should be asking of your genetic testing provider
Mosaic genetic variants in hereditary germline genetic testing: the expected and the unexpected
Anne Deucher, PhD, discusses mosaicism in germline genetic testing
Full PMS2 at Invitae: Cheaper, faster, better
Dan Kvitek discusses Invitae’s methodology in sequencing the full PMS2 gene, including exons 12-15.
These templates can help patients inform family members about their test results, including next steps those family members may want to take themselves.