New rare disease gene tool launched – PanelApp

PanelAppGenomics England has developed a unique resource, the ‘PanelApp’. It is a new crowdsourcing tool for the scientific community, allowing knowledge of rare disease genetics to be shared and evaluated. This will create comprehensive evidence-based gene panels for rare diseases. The resource is publically available for anyone who would like to view and download the gene panels. Experts can register as a reviewer to make evaluations of the gene panels.

 We are encouraging those with an expertise in rare disease genetics to register to be a reviewer. We’d like experts to help finalise the list of genes that can be used to help diagnose a rare disease

Dr Ellen McDonagh, Lead Scientific Curator at Genomics England said: “We’ve developed the PanelApp to crowd source knowledge of genetic testing for rare diseases and provide a tool for experts to utilise. We are encouraging those with an expertise in rare disease genetics to register to be a reviewer. We’d like experts to help finalise the list of genes that can be used to help diagnose a rare disease. The PanelApp also allows evidence for research grade genes to be collected, which may eventually be promoted to clinical grade as more evidence emerges. Currently gene panels differ from place to place; PanelApp is an opportunity to encourage standardisation of gene panels throughout the scientific community, based on expert knowledge and guidelines.”

The 100,000 Genomes Project is recruiting patients with 122 different rare diseases. For these patients the underlying genetic cause of their rare disease is not known, or is not certain. By looking at a person’s genome it is hoped that the likely genetic change that is causing their rare disease will be identified, and that they will be provided a diagnosis for the first time. In some cases this will help guide treatment to slow or halt progression of the disease.

There are millions of genetic variations between people. To help identify the genetic change that may be causing a rare disease, genome analysts use a variety of tools and techniques to narrow their search. One of these tools is a list of genes known to be involved in the rare disease. This separates the genetic changes in these genes from the rest of the genome, as they may be more likely to cause the disease.

For each rare disease that is a part of the 100,000 Genomes Project, a list of potential genes for each condition has been gathered – a gene panel. Four publicly available resources were used to create the panels. The role of some genes is understood and the effects they have on cells and the body has been discovered. Some of these genes are already tested for by the NHS to diagnose disease. For other genes, their function is less clear. Expert reviewers are being asked to assess the panels and provide evidence that a specific gene is involved in the disease.

Reviewers are asked to give each gene a rating on a scale of green = high evidence i.e. the gene is very likely be the cause of the disease and can be reported back to patients, to red = low evidence for a role in disease, or not suitable for clinical diagnosis at this time. Their ratings can be based on clinical or research-acquired knowledge. Reviews will then be consolidated based upon criteria established by Genomics England. Experts can also add new genes to the panel, and it is expected that the gene panels will be updated as we learn from the 100,000 Genomes Project data.

The wider clinical and scientific community are able to access and review the panels, and over time this will improve understanding of diseases.

Visit the PanelApp, or view the videos for a guide and demonstration.


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