David Atkins, PhD, CEO of Congenica, a provider of the diagnostic decision support platform, Sapientia, which enable clinicians to interrogate the human genome to identify disease-causing variants.
80% of rare diseases are thought to have a genetic component, and patients wait an average of 4.7 years, and typically see 7.3 different clinical specialists, before getting a diagnosis. Genome sequencing and variant interpretation facilitate speedier diagnoses and better clinical management and support.
A diagnosis removes the fear of the unknown, allowing a patient’s family to deal with the known and make informed decisions. There is also the potential for healthcare savings by avoiding unnecessary appointments, tests and interventions.
