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:
A complimentary risk assessment and pedigree tool for all clinicians.
Each week, Invitae develops and shares a clinic note for a not-so-common gene.
Our team of genetic counselors shares well-referenced clinic notes.
Targeted treatments for the genetic epilepsies: Clinical cases
Katie Angione, MD, CGC, and Lacey Smith, MD, CGC, discuss clinical cases in the management and targeted treatment of genetic childhood epilepsies.
Panels and exomes: Diagnostic yield and detection of childhood epilepsy
Joseph Sullivan, MD, and Swaroop Aradhya, PhD, discuss diagnostic yield in the detection of childhood epilepsy.
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.
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.
A diagnostic odyssey: Why early and accurate genetic testing in epilepsy is so important
Brenda Porter, MD, PhD, and Kim Nye discuss the importance of early and accurate genetic testing in epilepsy.
Next-generation sequencing (NGS)-based detection of deletions and duplications in heritable cardiovascular conditions
Matteo Vatta Ph.D., FACMG, discusses how next-generation sequencing (NGS) can detect both del/dup events and sequence alterations, assesses the advantages of NGS-based del/dup detection, including improved coverage compared to traditional techniques, and describes the frequency of del/dup events in heritable cardiovascular conditions.
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.
Claudine J. Isaacs, MD
Claudine J. Isaacs, MD; Adam M. Brufsky, MD; Harold J. Burstein, MD, PhD
Harold J. Burstein, MD, PhD; Adam M. Brufsky, MD; Claudine J. Isaacs, MD