Diagnosing Undiagnosed Rare Disease Patients: Tools and resources to strengthen the voice of the undiagnosed Rare Disease Community

This is a conversation between Chris and Lauren Roberts of SWAN, during the 2020 European Conference on Rare Diseases and Orphan Products
15th May 2020

This conversation between Chris Patch and Lauren Roberts, Director of Support, Genetic Alliance UK, SWAN UK took place during session 0103, as a part of the conference's Theme: The Future of Diagnosis: New Hopes, Promises and Challenges

THEME DESCRIPTION:

Recent scientific and technological developments have meant that the diagnosis of rare diseases has improved considerably over the last few years.

In this theme we will closely examine the current landscape and also debate future trends and scenarios. We will present the current state of play in several national Newborn Screening (NBS) programmes, and discuss challenges to expanding NBS across Europe, highlighting impacts for patients and families. This theme will also explore how new technologies can be applied to accelerate and improve access to diagnosis, taking into account the implications, opportunities and challenges that are associated with Next Generation Sequencing and Artificial Intelligence by showcasing several platforms. The diagnostic odyssey is still very much a reality for a vast number of rare disease patients despite these recent technological advances. Relevant tools and services will be discussed to understand how to better support the undiagnosed rare disease community.

Genetic counselling represents a critical milestone in the search for a diagnosis and is integral to Genetic Health Services. A dedicated session will present how partnerships and innovative ways of working can benefit all involved and improve care delivery.

SESSION 0103: Friday 15th May 2020, 11:30 – 13:00
Diagnosing Undiagnosed Rare Disease Patients: Tools and Resources to strengthen the voice of the undiagnosed Rare Disease Community

Progress in the application of genomic and other technologies (including web-based), has increased the diagnostic rate of patients with rare disorders to 50%. This is a great success but still leaves unanswered questions for the other 50% of the rare disease community. This session will focus on providing updates on existing initiatives of interest to the undiagnosed rare disease community, including patients, families and healthcare professionals.

The first part focuses on the views and voices of the undiagnosed community, their expectations of and outlooks on rare patients and their families. The overall aims of the session are to empower the community with tools and resources to strengthen their voices alongside policy makers and researchers, and to support them in getting closer to finding a diagnosis.

Chair: Dr. Holm Graessner, Solve-RD and ERN-RND, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany

Speakers:

  • Prof. Christine Patch, Clinical Lead for Genetic Counselling, Genomics England
  • Dr. Holm Graessner, Solve-RD and ERN-RND, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany
  • Lauren Roberts, Director of Support, Genetic Alliance UK, SWAN UK
  • Prof. Olaf Riess, Head of the Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany
  • Stephanie Broley, Senior Genetic Counsellor and Program Coordinator of the Undiagnosed Diseases Program WA, Australia
  • Dr. Pablo Botas, Head of Science, Fondation 29, Spain
  • Prof. Peter Krawitz, Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Germany
  • Vanessa Lemarié, Lead Rare Disease Initiative, Business Development Life Sciences at Ada Health, Germany

Downloads:

Citation:

Patch C, Roberts L (2020). A conversation between Christine Patch of Genomics England and Lauren Roberts of SWAN. Session 0103: Diagnosing Undiagnosed Rare Disease Patients: Tools and Resources to strengthen the voice of the undiagnosed Rare Disease Community at the 10th European Conference on Rare Diseases & Orphan Products. Online, 15th May.