European Human Genetics Conference - ESHG 2015

June 6 – 9, 2015, Glasgow, Scotland, UK

Official event website

By Emily Clarke, Genetic Counsellor 

The European Human Genetics Conference is a very exciting and dynamic event, which this year was held in the UK.  It is a forum for all workers in medical genetics to review the most recent advances in the field and develop research collaborations.  Over 3000 professionals attended and hundreds of presentations, workshops and educational sessions were delivered by leading clinicians and researchers from across the world.

The breadth of topics covered ranged from reproductive genetics and new diagnostic approaches, to population genetics and public services.  Unfortunately it was not possible to get to everything but some of the highlights from the sessions I was able to attend are below.

Genetic Diagnosis using Next Generation Sequencing (NGS) Technology

Series of presentations

The relatively new genetic technology of next generation sequencing (NGS) allows the simultaneous sequencing of numerous genes rather than the traditional approach of sequencing one gene at a time.  While the “gold standard” for sequencing is still Sanger sequencing, NGS has come down in cost, increased in accuracy and is considerably faster than traditional Sanger sequencing.  This technology is therefore broadening the scope and availability of genetic testing.

It is possible to use NGS to sequence the whole genome of a person (the entirety of their genetic make-up), but this is currently prohibitively expensive and impractical to do routinely.  Scientists have therefore been looking at innovative ways to utilise this technology in the clinical setting to improve diagnosis for patients.  Cambridge University Hospitals' Genomic Medicine Initiative (GEMINI) has investigated a type of NGS that analyses only the protein coding regions of the genome.  This is the part of our genetic make-up that contains our genes and is known as the exome.  The exome comprises only about 2% of our whole genome, but it is thought to be the region in which genetic changes (mutations) are more likely to cause disease.

The team in Cambridge have designed an affordable clinical exome sequencing test which analyses nearly 5000 known genes in a single test.  All 4813 genes are sequenced in a patient's sample but only the data from those genes relevant to the patient's clinical features are interpreted.  In this way the test can be personalised.  To date, a diagnostic yield of about 30% has been reported which, while still quite low, has enabled a genetic diagnosis for many people who may otherwise not have received one.

NGS technology is set to continue to progress, already being used by genetic laboratories across the country and, in time, it is expected to become routine within the NHS.

Non-Invasive Prenatal Testing (NIPT)

By Prof. Lyn Chitty

Non-invasive prenatal testing (NIPT) uses fragments of fetal DNA that are naturally present in the mother’s blood stream during pregnancy.  This fetal DNA can be isolated from the maternal DNA and used to test the pregnancy for certain major genetic conditions, such as Down syndrome.  The test involves a blood sample from the mother after 10 weeks of pregnancy (as confirmed by ultrasound scan).  Results take 5-10 working days to come back and give either a highly likely or highly unlikely probability that the pregnancy has Down syndrome.  Occasionally samples fail and a new blood sample is needed.  As the test only requires a blood sample from the mother, there is no associated risk of miscarriage making NIPT a very safe test for the pregnancy. 

Professor Chitty presented the findings of the Reliable Accurate Prenatal non-Invasive Diagnosis (RAPID) Study evaluation of the possibility of integrating NIPT into the established NHS screening programme for Down syndrome. 

The evaluation involved 2500 women and found that NIPT for Down syndrome is 99% accurate and reduced the need for invasive tests, such as amniocentesis, by more than 80%.  However the need for invasive testing is not completely eliminated by NIPT as a high risk result still requires final confirmation by amniocentesis. 

The aim of NIPT is to promote informed autonomous reproductive choices for parents.  The importance of careful pre and post test counselling was emphasised.  Women were found to be very positive about having the option of NIPT and many who would have declined amniocentesis due to the miscarriage risk chose to have the safer test to help them prepare.        

It was felt that NIPT could be integrated into the NHS Down syndrome screening pathway but this is a decision for the UK National Screening Committee with public consultation.

For more information visit

Research, the Clinic and Everyday Life: New Roles for Patients and Citizens

Workshop organised by Dr H. Kaariainen and Dr T. Virjenhook

This workshop was the first but not the last occasion during the conference that I heard the term “genetic revolution.”  Many feel that a revolution in genetics is underway as a result of technical innovations and patients becoming more active in developing services and producing health data.  Discussion focussed on the importance of patients, the public, researchers and clinicians working alongside one another to allow all to benefit from new developments and even start to direct them.

One presentation during the workshop, by Dr Kassim Javaid from the University of Oxford, outlined a project which is aiming to unite patients and researchers to investigate rare diseases.  As we know, rare diseases are under-researched despite there being about 3 million people with a rare disease in the UK.  Nationwide recruitment is required to obtain sufficient participant numbers and a challenge has been different hospitals all having their own procedures around recruitment.  Dr Javaid and his team have found a way around this, they have linked with national charities and support groups!  Their study, the Rare UK Disease of Bone, Joint and Blood Vessel Study (RUDY), uses a web-based platform to recruit and communicate with study participants.  The site is loosely based on Facebook with participants able to register online, set-up a health profile page, download study information sheets and consent forms and complete questionnaires.  The Rudy Study website can be found here and while rare diseases affecting bone, joints and blood vessels are currently prioritised, the number of diseases included is expected to expand as more researchers join the network.

This approach could be a way forward for rare disease research and builds on the idea of patient registries.

The CRISPR-Cas9 Genome Editing System

Educational session by Dr. Emmanuelle Charpentier

This session gave an overview of an emerging genetic technique which may, in the future, lead to treatments for human genetic disorders.  The technique is known as CRISPR-Cas9 and is a genome editing system.  It has the potential to edit our genetic make-up correcting any misprints (mutations) that cause disease. 

Through studying the immune systems of bacteria scientists came across a tool which can effectively perform gene surgery.  It works by homing in on a specific DNA target sequence, cutting the DNA at this location and allowing part of the sequence to be replaced by substitute DNA.  In other words, it cuts out the section of the gene that contains the genetic misprint and allows it to be replaced with a working copy of the gene sequence, thereby repairing the gene.  It is a precise genetic ‘find and replace’ tool.

While the development of this technique is very exciting and holds promise for the future, there are still a number of technical and safety challenges that need to be overcome before it can begin to be used in people.

Some Quotes from the Conference

“Don’t just cure mice, cure people – do research that matters!”

Mathieu Boudes, EURORDIS

“The strength and beauty of biology is in its variety.”