Why is Genomic Sequencing Important? (Blog via AKU Society)

Why is Genomic Sequencing Important?

Wednesday, July 09, 2014

Yesterday we attended the Genetic Alliance UK Annual Conference and General Meeting in London. The theme of the conference was ‘Genomic Sequencing; why is it important and how can it help you?’ In today’s blog we give an overview of the day, and an insight in to the future of genomics in England.

Recently Genetic Alliance UK have been conducting a research project called ‘My Condition, My DNA’. The aim of this has been to find out the opinions of real patients on whole genome sequencing, and its potential use as a diagnostic tool on the NHS in the future. The Annual Conference this year focused on this theme.

The first speaker was science journalist and broadcaster, Vivienne Parry, who gave us a whirlwind tour of the history of diagnosis from astrology to genome sequencing. This included the landmark discovery of the first genetic disease- alkaptonuria! Vivienne explained that Archibald Garrod was obsessed with urine, and soon realised that alkaptonuria was caused by an inborn error of metabolism.

However, at the time he was largely ignored, as he linked his work to that of Gregor Mendel, whose inheritance theories were not widely accepted. Despite this, their discoveries form the basis of much of our genetic understanding today. She ended her talk by highlighting that it is the rare that provides insight in to the common, and that is why genome sequencing should focus on rare diseases.

Mark Bale from the Department of Health continued the day with a summary of the100,000 Genome Project run by Genomics England and why it is important both for rare disease patients and the scientific development of the UK. This project aims to analyse the genetic makeup of 100,000 people in England, diagnosing them and feeding in to a research database.

After lunch Edward Sherley-Price told us his own personal story of getting a diagnosis for his daughter. When she was just 2 years old she was diagnosed with Global Developmental Delay. Although this sounds like a solid diagnosis, it is really just a general category meaning that a child has developmental or learning difficulties. 50% of those put in this category don’t get a proper diagnosis.

It wasn’t until Syndromes Without A Name (SWAN) ran an identification project that a genetic fault was found. Edward said that getting a diagnosis immediately relaxed them, as they finally knew what it was. More importantly for them, however, they knew what it wasn’t. Despite still not having a treatment for their daughter, Edward and his family say that getting a diagnosis was such a big starting point, and also made health professionals more responsive and understanding.

The 100,000 Genome Project aims not only to conduct research in to the nature of the genome and what it can tell us, but it also aims to give people with rare and undiagnosed diseases a chance to identify the cause. The next session of the day explored everyone’s thoughts and concerns about the project with an interactive survey on our phones and tablets. Saskia Sanderson led the session, and brought the live results of the survey up on the screen to prompt further discussion.

75% said they would be willing to have their genome sequenced as part of their clinical care, with 82% saying they would be willing to have it done for the 100,000 Genome Project. When asked whether we would want to know all of the incidental findings from our sequencing, the results were almost evenly split between wanting to know all of the findings, just some of the findings, and not being sure.

The truth is, as Vivienne Parry and Mark Bale pointed out during the discussion, that much of the data from genomic sequencing will not be entirely understood. Genetic patterns are complex and often heavily tied in with environment and lifestyle issues that cannot be completely separated from genetic prevalence or tendency.

This means we may not be able to learn all of our incidental findings, as they are not all understood! The project will hopefully start to develop this understanding for the future, but there is much still to learn.


Thank you for this interesting article, Alan. As is stated at the end, there is still much to be learned but let us look at the bright side: it has taken many years to get to what is understood but with new technologies, it might not take so long anymore to understand the rest.

I was there too.. and was very pleased that the chair, Vivienne Parry - Famous Journalist and Broadcaster, mentioned ATAXIA!

The event was "live" via twitter #geneticconf

ASAP photos and slides will be available via Genetic Alliance UK http://www.geneticalliance.org.uk/

I have been elected to the UK Raredisease Patient Empowerment Group (to input and oversee the raredisease Strategies

Good for you Alan ! Congratulations !
Glad to hear that ATAXIA was mentioned. With you at the helm, no doubt we will get there.

Thank you for your dedication. You are an inspiration!