University of Dundee, MSc Human Clinical Embryology and Assisted Conception - Apply now for September 2018
Page URL:

Whole-genome sequencing may improve cancer diagnosis

3 May 2011
Appeared in BioNews 605

Two US studies have demonstrated how whole-genome screening can help improve cancer treatment and diagnosis. The researchers claim to have taken a major step towards using this type of screening to help predict patients' responses to different treatment based on their genetics.

In one of the studies, researchers from the University of Alabama sequenced the genome of a woman with leukaemia using cells taken from her skin and bone marrow. Within six weeks, the technique revealed genetic defects that would have remained undetected by conventional diagnostic tests.

This led to the patient's treatment plan being changed from bone marrow transplantation to a targeted chemotherapy regime. The treatment proved successful and the patient is now in remission.

The second study looked at a woman who had died of breast cancer and ovarian cancer after a relapse. By obtaining the patient's genomic sequence, the researchers discovered she had several previously-undetected genetic traits. Her children can now be screened to see if they have inherited these traits so they can take preventative measures, such as pre-emptive mastectomy, if necessary.

Professor Boris Pasche, deputy director at the Birmingham Comprehensive Cancer Centre at the University of Alabama, and one of the lead scientists in the studies, explained: 'If patients have certain genes, they may not respond to certain treatments. But whole-genome sequencing gives a full picture of the genetic make-up of the tumour and the patient, and it may allow the physician to target a new treatment'.

Following completion of the Human Genome Project in 2003, some people believed that unlocking the human genome could lead to new cures for many diseases and personalised treatments. However, although a useful tool in pre-clinical research, the cost of whole-genome sequencing has been largely prohibitive.

As the technique becomes automated and more widely used in research, the cost of whole-genome sequencing may fall until it becomes a viable method for cancer diagnosis.

'Prices are still dropping very rapidly; in the next 10 years, it will cost less than US $10,000, and it certainly will be more affordable in the next five years', said Professor Pasche. He added: 'These cases of personalised genomic medicine are just some of the first examples of what will likely be commonplace in the near future'.

The studies were published in the Journal of the American Medical Association (JAMA).

Cancer 'MOT' to detect where disease may strike
Mirror |  20 April 2011
Expert predicts cancer advances
Press Association |  20 April 2011
Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML
Journal of the American Medical Association (JAMA) |  20 April 2011
Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene
Journal of the American Medical Association (JAMA) |  20 April 2011
Whole-Genome Sequencing: A step closer to personalized medicine
Journal of the American Medical Association (JAMA) |  20 April 2011
30 August 2016 - by Ebtehal Moussa 
A new genetic test could predict which patients with early-stage breast cancer patients would benefit from chemotherapy...
10 December 2012 - by Antony Blackburn-Starza 
The UK Government has announced plans that will allow 100,000 NHS patients to have their whole genome sequenced over the next three to five years, as part of a move to boost economic growth in the life sciences industry...
8 October 2012 - by Paola Quattroni 
A computer-based platform which looks to greatly speed up genetic analysis of tumours has been unveiled in the USA. Currently such analysis can take up to eight weeks, the new platform promises to deliver results in just 47 seconds...
8 May 2012 - by Sarah Norcross and Sandy Starr 
The conference 'Genomics in Society: Facts, Fictions and Cultures' marked the 10th anniversary of the Economic and Social Research Council's Genomics Network, and also the passing of nearly ten years since the completion of the Human Genome Project...
12 March 2012 - by Maren Urner 
A single tumour can have many different genetic mutations at various locations, cancer researchers have found. In a study, two thirds of the specific genetic faults identified in tumours were not repeated in the same tumour...
16 January 2012 - by Dr Zara Mahmoud 
A US biotechnology firm has unveiled an automated desktop DNA sequencer that can decode the sequence of the human genome in one day for as little as $1,000 (£650). Given its first public viewing at a consumer electronics show in Las Vegas, Life Technologies Corporation's Ion Proton sequencer uses microchips similar to those found in digital cameras...
5 December 2011 - by Sarah Pritchard 
Two gene rearrangements associated with prostate and lung cancer could also be behind five to seven percent of all breast cancers, according to US scientists...
14 November 2011 - by Dr Louisa Petchey 
A new genetic test that will help to tailor drugs to cancer patients' individual tumours has been successfully trialled in the US...
10 October 2011 - by Oliver Timmis 
The Faroe Islands is set to become the first region to sequence the genome of its entire population....
15 August 2011 - by Dr Zara Mahmoud 
Educational toys, brainy baby videos and flash cards – do these things help to develop intelligence? Or are the genes that you inherited from your parents the determining factor? The search for an 'intelligence gene' has intrigued scientists for decades. Now, an international team of scientists have added weight to the argument that intelligence does have a genetic basis, but that it comes from multiple genes working together...
15 August 2011 - by Dr Maria Teresa Esposito 
Scientists have discovered a rare genetic fault that raises a woman's risk of developing ovarian cancer six-fold. It has been hailed as the most important discovery in the field in the last ten years, and offers hope for new treatments...
8 August 2011 - by Dr Jay Stone 
Four-year-old Katie Warner from Oxford has become the first person in Britain to have her whole genome sequenced in order to locate the mutation that causes her skull abnormality...
1 August 2011 - by Dr Charlotte Maden 
Two new initiatives have been launched by Cancer Research UK, aiming to increase the understanding of prostate and oesophageal cancers which will speed up the development of personalised treatments for patients....
16 May 2011 - by Dr Kimberley Bryon-Dodd 
Screening for breast and prostate cancer based on genetic risk factors as well as age could reduce the number of people screened without a significant reduction in the number of cancers detected, a new study suggests....
4 April 2011 - by Maren Urner 
Researchers from the Wellcome Trust Sanger Institute have identified three different genetic mutations linked to acute myeloid leukaemia (AML), a cancer that is characterised by a rapid increase in abnormal white blood cells in the bone marrow....
7 March 2011 - by Dr Jay Stone 
Scientists at Queen's University, Belfast, have developed a new targeted gene therapy for the treatment of breast cancer....
14 February 2011 - by Victoria Kay 
A genetic screening test could help doctors to identify men with the most aggressive types of prostate cancer, UK scientists believe. The test could save men with milder forms of the disease from unnecessary surgery and its potentially serious side effects...
Log in to add a Comment.

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

Syndicate this story - click here to enquire about using this story.