February 28 is the eighth annual Rare Disease Day, but raising awareness for rare disease shouldn’t be confined to just one day. Here are a few of the ways that Invitae supports rare and genetic disease communities and research year round.
We partner with and support some of the world’s leading rare disease patient advocacy organizations, including:
• Global Genes
• Jack Pribaz Foundation
• National Society of Genetic Counselors
• Primary Ciliary Dyskinesia Foundation
• Society of Gynecologic Oncology
At Invitae, we believe genetic information is more valuable when it’s shared. By advancing collective knowledge about the impact of genetic variants on disease, scientists and researchers will improve healthcare for everyone.
To that end, we fully support the Free the Data movement and the efforts of the ClinVar project to centralize all of the world’s known relationships between genetic variants and disease. To help the community, we built Clinvitae, a freely available database of clinically observed variants that were aggregated from ClinVar and several other publicly available databases.
Read more about our support of the open-access revolution and its impact on patients.
As part of our genetic testing services, Invitae provides free genetic counseling to support clinicians and patients through the testing process.
Read our latest blog post from guest author Benjamin Helm, MS, CGC, about the important role that genetic counselors hold in the lives of patients and families who look to genetic testing to provide answers during their lengthy and challenging “diagnostic odysseys.”
Invitae captures and shares the stories of patients such as Debbi to help others understand the impact that genetic testing can have on those struggling to find a diagnosis for rare diseases.
Invitae regularly participates in meetings and conferences that showcase data and leaders impacting rare disease research and communities, such as the American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting and National Society of Genetic Counselors Annual Education Conference.
Invitae is making genetic information more accessible to patients and clinicians. Invitae offers high-quality, affordable genetic testing for inherited genetic disorders that are associated with a variety of medical disciplines, including cardiology, hereditary cancers, neurology, pediatric medicine, and hematology. View our test catalog to learn more about our testing.
We also developed the Invitae Family History Tool in collaboration with genetic counselors and customers. This free app helps providers and patients better understand and capture their family history—a key part of understanding genetic health.
Invitae’s mission is to bring affordable, accessible genetic testing services to patients with rare disease so that everyone has an opportunity to find a diagnosis. This is at the heart of our company’s purpose, and even though we celebrate Rare Disease Day in February, we live this mission every day.