Integrating New Technologies for the Diagnosis of Rare Diseases

Introduction

Technological advances in the areas of metabolomics (which includes lipidomics, proteinomics, and glycomics), large-scale genomic sequencing and machine learning algorithms are being combined in research settings to increase the diagnostic yield in rare diseases.
Maximizing patient benefit beyond small research studies or specialized laboratories requires the establishment of diagnostic standards, which can take many years to be developed. When combined with a rapid technological pace of change, it is likely that the widespread adoption of combined metabolomics and genomic technologies will be relatively slow, due to high costs associated with developing diagnostic-grade assays, purchasing cutting edge equipment as well as the lack of a standardized diagnostic framework.
However, as has been demonstrated with the clinical adoption of whole exome sequencing, it is possible to move new technologies into mainstream diagnostic laboratories once the benefits have been clearly proven in the research setting.
This Task Force would aim to identify the most clinically beneficial combination(s) of metabolomic and genomic tests coupled with artificial intelligence methodologies, which would then be prioritized for development of diagnostic standards. This will ultimately lead to the more rapid adoption of new techniques/technologies and increase the benefit to patients above the current diagnostic algorithms.

Objectives

1. To identify new technologies in development or in experimental use which are likely to increase the diagnostic rate for patients with rare diseases.
2. To identify opportunities to enable the safe, widespread clinical adoption of the most elective technologies in a meaningful timeline.
3. Workshop to allow the development of a clinical framework/guidelines for implementation of the combined diagnostic approach of metabolomics/genomic/AI.

Plans and timeline

• Assembly of a Task Force team and a Chair and hold first meeting (Q1 2021).
• Develop the scope of the challenge and state-of-play document (Q2 2021)
• Develop an asset map; identification of the international research teams working on this challenge (Q2/2021).
• Identify a targeted workshop that addresses an area(s) of priority (Q3 2021).
• Development objectives and outcomes for a workshop focused on a specific challenge(s) to be held in (Q4 2021).
• Disseminate Workshop outcomes (Q4 2021).