Genetic Information: More valuable when shared

Collaboration among patients, advocacy groups, and biopharma companies through genetic testing and patient engagement programs can remove barriers to genetic testing and simplify the diagnosis of rare disease

Invitae programs and partnerships highlighted during panel discussion at the World Orphan Drug Congress USA 2018

There are as many as 30 million rare disease patients in the US alone, many of whom face barriers in obtaining accurate diagnoses and information about the treatment and management of their conditions. Patients and their caregivers commonly spend years on diagnostic odysseys seeking answers from multiple specialists and receiving ineffective treatments. Accessing genetic testing early not only simplifies and shortens diagnostic journeys but also guides testing for at-risk relatives and informs decisions about treatment. Providing access to high-quality, low-cost genetic testing coupled with education on its utility is key to achieving these outcomes.

For example, Invitae partnered with BioMarin to launch the Behind the Seizure program to provide rapid, no-charge epilepsy gene panel testing to 2- to 4-year-olds who have a first unprovoked seizure after the age of 2 years. This program, and others like it, can play a pivotal role in the diagnosis and management of rare disease by removing barriers to genetic testing.

Once patients receive a correct diagnosis, mobilizing engagement among rare disease communities can improve understanding of rare diseases and allow for quicker patient recruitment into research and clinical trials. Invitae’s Patient Insights Networks (PINs) are registries that allow patients to share de-identified data and connect to information from biopharma companies, researchers, and advocacy groups. PINs improve the understanding of rare disease by collecting patient-reported outcomes and perspectives on the burden and natural history of disease. Through PINs, biopharma sponsors can collect customized patient-reported outcomes data and selectively notify patients of research or trial opportunities for which they might be eligible. Shared data provide new insight into rare disease, guide the selection of endpoints in clinical trial design, and help match patients with appropriate trials and therapeutics.

Another example of our partnership work started in early 2015, when Blueprint Medicines was preparing to initiate a Phase 1 clinical trial of avapritinib (formerly BLU-285), a highly selective investigational inhibitor of KIT and PDGFRA in development for patients with advanced systemic mastocytosis (SM). SM is often underdiagnosed, and there is a shortage of effective treatment options. These dynamics created challenges with both recruiting patients into clinical trials and research and developing a thorough understanding about the burden of disease on patients. To address these challenges, Invitae and Blueprint Medicines launched Mast Cell Connect in December 2015. Mast Cell Connect is a PIN for patients with mastocytosis that was created to advance understanding of disease, its impact on patients, and to facilitate development of new therapies.

Genetic testing programs and PINs are successful as stand-alone programs to accurately diagnose and help rare disease patients manage their conditions. However, combining these approaches has the potential to further empower patients, improve care, and accelerate the development of new therapies.

Panel: Genetic testing and patient engagement: faster time to diagnosis and access to research and treatments
Location: Gaylord National Harbor Hotel, Oxon Hill, MD
Date/Time: Thursday, April 26, 2018, 11:30 am Eastern
Moderator: Daniel Anderson
Panel Members:

  • Catherine Pajak, BioMarin
  • Jordanna Mora, Alnylam
  • Mark Dant, The Ryan Foundation