Whole Genome Sequencing for Rare Diseases

Whole Genome Sequencing for Rare Diseases

It takes on average 7.6 years for a Rare Disease patient to receive a diagnosis.  If you’ve seen our Facts posted daily on Twitter and Facebook, then you’ll know this period of time is called the, ‘Rare Disease Odyssey’. During this length of time patients go undiagnosed or misdiagnosed, and are termed, ‘medical refugees’. Instead of receiving a standard course of medicine, Rare Disease patients endure; repetitive rounds of testing, miss-interpretations of results, and tracking down specialists. However, this 7-year long Odessey has the potential to be shortened to months using a technology called ‘Whole Genome Sequencing’ (WGS).

80% of Rare Diseases are of a ‘genetic origin’. This means that within our 3 billion long, ATCG-coded genome, lies many of the answers as to why certain rare diseases or ‘unexplainable symptoms’ occur. If patients  are able to access their genomes, they could be able to understand what rare disease they harbour and begin to understand its’ genetic basis.

This is where WGS comes in.

WGS is a tool used by scientists to identify the order of  our ATCG-lettered genomes. Each person has a slightly different sequence of letters, which is what causes variation and, in some cases, Rare Diseases. Certain arrangements of these letters within our genome are associated with Rare Diseases. For example, variations of the lettered arrangement in  the ‘COL5A1’ gene, are thought to contribute to Ehlers Danlos. So where can you get WGS, to understand the sequence of your genetic code?

Phase 1 of  Dante Labs’ action plan to help tackle difficulties faced by undiagnosed/misdiagnosed patients is:

  1. To offer discounted WGS tests for Rare Disease patients (€259). To help those in need now of a diagnosis. However, we aren’t stopping at providing you with the data.

Phase 2 of our action plan for you is:

  1. To provide you with the services that can help to interpret the data and guide you through the diagnosis process  with our optional ‘Customized Report’ and our additional ‘Secondary Report’. Both Reports form part of our developed ‘’Two-Tiered’ approach.

This First Tier (the Customized Report) is an option that we provide (free of charge) to patients who have a specific interest for a specific condition or disease, for example Epilepsy, Periodic Paralysis).If you choose “Periodic Paralysis”, then we will generate a Periodic Paralysis Panel, containing all the variants. The variants found and interpreted  are recurrent and have been well-documented and associated with the symptoms  reported.

The Second Tier (our Secondary Report) includes variants with similar symptoms to your chosen disease of interest.  What we call an ‘expanded gene panel’. We have found from our experience of helping Rare Disease patients that with complex diseases, up to 20% of patients are misdiagnosed with the wrong disease. Therefore, this specially curated Secondary Report has proven to be a very useful tool for both patients and doctors to achieve a precise diagnosis, and prevent the ‘diagnostic odyssey’ experienced by Rare Disease patients.

The Third and Final Phase of our plan is:

  1. The opportunity you get to help a Rare Disease patient in the future. This is because proceeds raised during Rare Disease  Month will be used to fund free genetic testing to Rare Disease patients in need.

So if this list of benefits isn’t enough to get your whole genome sequenced at Dante Labs during Rare Disease Month, take a look at another of our articles.

But why not consider ‘bare-ing your rare’ today, to help yourself and help someone else.

#bareyourrare #showyourstripes