Rare Disease Day: An opportunity to raise awareness

Stephanie Gandomi, MS, LCGC & Ed Esplin, MD, PhD, FACMG, FACP, Invitae

Stephanie Gandomi and Ed Esplin
Stephanie Gandomi and Ed Esplin

On February 29, 2016, we honor individuals living with rare diseases by raising awareness about Rare Disease Day. This year’s theme for World Rare Disease Day is “Patient Voice—Join Us in Making the Voice of Rare Diseases Heard.” The empowered patient can often be a key component of a successful diagnostic process, and an educated partnership between patient and clinician is ideal, especially when looking for difficult answers.

Rare disease patients have often struggled to find an accurate diagnosis, a process that can leave patients emotionally drained and in financial despair. On average, patients living with a rare disease wait 3.9 years to get a diagnosis.1 Along the way, they often undergo multiple tests and preliminary or incorrect diagnoses before the correct one is discovered. Financial barriers and limited access to genetic testing have unfortunately been primary elements contributing to these long, arduous diagnostic journeys.

Yet advances in genetic technology and understanding are enabling clinicians to take more definitive and effective diagnostic action. When coupled with a dedication to listening and responding to the voices of patients with rare disease, genetic knowledge empowers patients and their clinicians. Equally important, clinicians listening to the patient voice smooths the process, strengthens resolve, and bolsters hope for the patient whose diagnostic journey persists.
Rare disease infographic
Removing barriers to successful, clear communication between the patient and clinician is as important as pulling down the obstacles to effective diagnostic testing. Both are vital to a patient successfully completing their personal journey of discovery.

At Invitae, we strive to bring better testing options to the rare disease community. Through Invitae’s comprehensive, high-quality, and affordable testing options, we hope the clinicians and patients alike will be able to obtain the critical diagnostic information they seek.

As we move into the next year, Invitae is dedicated to strengthening our promise to the rare disease community by supporting our partnerships with advocacy organizations, research collaborators, registries, clinical trials, and clinical practices that serve patients with rare diseases. We also look forward to continuing to increase our test offerings to meet the ever-growing diagnostic needs of clinicians and their patients.

1Gandomi SK et al. Rare Disease Diagnosis Obstacles: Patient Perspective and Physician Findings; To be presented at the ACMG Annual Meeting, 2016 (Abstract #443).