Congenica are excited to announce their ASHG Corporate Satellite Event

The Important of Early Diagnosis in Rare Disease

Wednesday, October 17 | 12:30 – 13:45 | Room: 28C, Upper Level, San Diego Convention Center, San Diego, CA92101

Rare diseases, whilst individually rare, collectively affect 1/17 people, approximately 350 million worldwide. In many of these cases, an early diagnosis can mean a better prognosis, better clinical outcomes, and a reduction in unnecessary tests and costs; yet with traditional methods, rare disease patients wait, on average, 4.7 years for a diagnosis.

New advances in genomic analysis have allowed clinicians to make faster and more accurate diagnoses than ever before, so what once took years can now be done in a matter of days. Companies such as Congenica are at the forefront of this innovation, and using Congenica’s diagnostic decision support platform, Sapientia, a diagnosis can take as little as 30 minutes.

In this corporate satellite, three speakers will discuss their experiences and innovations from three sides of the diagnostic process; from the ground-breaking advances from the 100,000 Genomes Project, to the implementation of genomics into clinical care, to a patient and participant’s perspective on the other side of the diagnostic journey.

Each speaker will highlight the role that everyone has to play in the diagnostic journey, and the importance of an early diagnosis for all patients suffering from a rare disease.

Speakers Include

  • The 100,000 Genomes Transforming Patient Care in the UK
    Prof. Mark Caulfield, FMedSci, Chief Scientist

    Genomics England
  • The Implementation of Rapid & Accurate Genome Diagnostics at St George’s Hospital, London
    Dr Meriel McEntagart, MD, Consultant Clinical Geneticist & Physician

    St George’s University Hospital NHS Foundation Trust
  • The 100,000 Genomes Project: A Parent & Participant’s View
    Jillian Hastings Ward

    Chair, Participant Panel, 100,000 Genomes Project