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30/11/2012

Credit: Photograph of fetus/Science Photo Library; Schematic adapted from Fig 2B in Lo et al; by Allen Chan & Leong Woo Yan

Prenatal DNA Test for Down’s Syndrome

Progress on a Cambridge-Hong Kong genomics collaboration designed to improve prenatal diagnosis of Down’s syndrome – and potentially other conditions – will be unveiled to a UK summit on Tuesday, December 4.

 

Professor Dennis Lo, of the Chinese University of Hong Kong, will provide an update on his research into non-invasive prenatal diagnosis for Down’s syndrome using foetal DNA in maternal plasma.

 

It is one of the highlights of a thought leadership event organised by Cambridge think tank the PHG Foundation at Robinson College, Cambridge.

 

Leading international research scientists will discuss the next big step in public health - how practically to use cutting-edge science to reduce over-diagnosis and help patients make better-informed choices about screening and treatment.

 

The PHG Foundation is currently working with Prof Lo as he leads the world’s first formal clinical trial taking his scientific discovery a step closer to reality.

 

The result could be simpler and earlier genetic analysis of the foetus, which could ultimately replace more invasive techniques that carry a risk of miscarriage.

 

In the late 1990s Prof Lo made a breakthrough with the discovery of cell-free fatal DNA and RNA in the blood plasma of pregnant women. This technology - non-invasive prenatal diagnosis (NIPD)- is very effective in confirming the sex of a foetus – crucial for families with sex-linked genetic disorders.

 

It could also be used to identify the blood group of the foetus (important for identifying pregnancies at risk of problems due to blood group incompatibility between mother and baby) and to diagnose some specific serious genetic diseases.

 

Thanks to the work of the PHG Foundation and its partners, the Government is now making substantial investment in clinical trials. The PHG Foundation is working with Prof Lo on the clinical trial he is running in China.

 

This research is now sufficiently advanced to make NIPD a real prospect for clinical application and the PHG Foundation is asking whether society is ready for the ethical and legal challenges such science presents.

 

The Cambridge event takes on a debate sparked by a recent report from Cancer Research UK about breast cancer screening, which highlighted the importance of providing better information to enable individuals to make decisions about whether or not to be screened and potentially undergo treatment.

 

As part of a European-wide collaboration, the PHG Foundation has been investigating how genomics can be used to reduce harm from screening programmes and improve the guidance given to individuals who have been offered screening for cancer.

 

The topic will be up for discussion at the PHG conference, ‘Translating genomics: Making science work for health,’ when leading experts will be speaking on how we can use genomics to improve prevention and treatment for the ‘big’ public health concerns: cancer, heart disease, diabetes and obesity.

 

The Foundation’s director Dr Hilary Burton said: “The conference marks a turning point in the PHG Foundation’s mission. Over the last 15 years we have been successful in raising the profile of genomics in mainstream medicine but the challenge is still to make sure that everyone can access services that utilise the best of 21st century science wherever they live.

 

“The next big thing for us is the prospect of personalised medicine, and the hugely exciting possibilities it presents for ‘stratified prevention’ to improve the efficiency and effectiveness of public health programmes – and to minimise the potential harms.”

[Original source: News on 30 November 2012, Business Weekly Website http://www.businessweekly.co.uk/academia-a-research/14861-prenatal-dna-test-for-downs-syndrome]

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