Subscribe to the BioNews newsletter for free

Login
Advanced Search

Search for
BioNews

Like the Progress Educational Trust on Facebook


The Fertility Show


 

First use of whole genome scan to tailor medicine and lifestyle choices

04 May 2010

By Dr Sophie Pryor

Appeared in BioNews 556

Whole genome analysis has been used for the first time to gather clinically-useful information about the risk of developing diseases later in life. Stephen Quake, an apparently healthy, middle-aged professor of bioengineering at Stanford University in California, volunteered to have his entire genetic code screened. He was found to be at increased risk of developing diabetes, some cancers and of having a heart attack. The study was carried out by Dr Euan Ashley and colleagues at Stanford University and was published in The Lancet.

Professor Quake, who sequenced and published his own genome last year, first received genetic counselling to prepare him for the possibility that the analysis could reveal a serious disease. His genome sequence was then scanned for DNA variations, which are known to be associated with 55 medical conditions. The researchers combined his 'genetic map', age and other clinical information to produce a combined risk assessment.

The results showed Quake has a higher than expected risk of developing type two diabetes, obesity and some tumours, but a reduced risk of Alzheimer's disease. Focusing on his family history of heart problems, the researchers found an increased likelihood of coronary heart disease and identified rare genetic variations associated with sudden heart failure. The analysis also revealed information about his predicted response to the blood thinning drug warfarin, which has potential implications for future treatment. Dr Ashley explained how this approach would allow medical decisions to be made 'by taking into account both genetic risk and predisposition to response to medications we're going to use'.

Commenting on the experience, Professor Quake said: 'It's certainly been interesting. I was curious to see what would show up. But it's important to recognise that not everyone will want to know the intimate details of their genome, and it's entirely possible that this group will be the majority.' He added that the study marks 'the dawn of a new age in genomics', when doctors will be able to provide personalised medical advice based on precise tests of patients' genetic make-up.

Dr Philippa Brice, from the Foundation for Population Health Genomics, said in the Guardian that: 'prompt action is needed to consider how health services should be preparing for the onset of whole genome-sequencing as a clinical tool, including such areas as the development of the necessary bioinformatic and IT systems, wider societal and regulatory issues related to the more extensive use and storage of personal genomic information, and the development of a health professional workforce with the necessary knowledge and skill'.

Furthermore, she said, it was important to distinguish: 'between genuinely useful and irrelevant, misleading or even harmful genetic information'. In an accompanying article, Professor Nilesh Samani from the University of Leicester warned that ethical questions, such as who should have their genome sequenced and who should have access to the data, also needs to be addressed before such genetic testing can become a feasible clinical tool.

SOURCES & REFERENCES
WebMD | 29 April 2010
 
Medpage Today | 29 April 2010
 
Nature blogs | 29 April 2010
 
The Guardian | 04 May 2010
 
The Daily Telegraph | 30 April 2010
 
BBC news | 04 May 2010
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

25 March 2013 - by Nina Chohan 
The American College of Medical Genetics and Genomics has published a report recommending that patients who have their genomes sequenced should automatically be told of incidental genetic findings....
20 June 2011 - by Ruth Pidsley 
US scientists have reported possibly the first example of using one person's genetic sequence to refine a diagnosis and provide personalised medical treatment. Whole-genome sequencing (WGS) helped pinpoint defects in the DNA of 14-year-old fraternal twins Noah and Alexis Beery causing their rare neurological condition, dopamine-responsive dystonia (DRD)...
18 October 2010 - by Ken Hanscombe 
Twelve members of the Genomes Unzipped project have made their personal genetic data publicly available online. By sharing their genetic data, the project aims to guide discussion about the risks, benefits, and limitations of genetic information, and the issue of genetic privacy...
12 July 2010 - by Dr Vivienne Raper 
Before Dr Julian Huppert was elected MP for Cambridge in May this year, he was a computational biologist at Cambridge University studying the structure and function of DNA. Now, he's one of only two scientists with PhDs in parliament. BioNews quizzed him about science funding, synthetic biology and the shortage of scientists in politics...
28 June 2010 - by Seil Collins 
The Food and Drug Administration (FDA) has told five US companies that the genetic tests they sell directly to consumers are unapproved....

22 February 2010 - by Maren Urner 
A fast, low cost DNA test that can reveal a person's chances of developing certain inherited diseases could soon be a reality, scientists in Scotland have said. The test involves testing a patient's saliva to identify disease-related variations in their genetic code and is faster and cheaper than conventional methods, according to the study published in the journal Angewandte Chemie....
07 December 2009 - by Antony Blackburn-Starza 
As our understanding of genetics and associated disorders has developed, many genetic tests performing functions - from predicting certain genetic predispositions and identifying rare monogenetic disorders, to ancestry and other 'novelty' tests - have been introduced to the healthcare market. Many geneticists are concerned about the regulation of these tests, which are performed by the NHS, the private sector, or distributed directly to consumers. Experts are calling for more transparent eval...
15 June 2009 - by Adam Fletcher 
The age of affordable genome sequencing is inching ever closer, spurred on last week by the announcement that San Diego biotech firm Illumina is launching its personal sequencing service for under $50,000. Speaking at the Consumer Genetics Show in Boston, Massachusetts, US, Jay Flatley - the president and CEO of Illumina - unveiled a service that represents the first time that an individual's genome can be sequenced so thoroughly, for such a (relatively) low price....

HAVE YOUR SAY
Be the first to have your say.

You need to or  to add comments.

By posting a comment you agree to abide by the BioNews terms and conditions


- click here to enquire about using this story.

Published by the Progress Educational Trust

CROSSING FRONTIERS

Moving the Boundaries of Human Reproduction

Public Conference
London
8 December 2017

Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Jacques Cohen

Dr Anna Smajdor

Dr Andy Greenfield

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross


BOOK HERE

Good Fundraising Code

Become a Friend of PET HERE and give the Progress Educational Trust a regular donation