New Genetics Test for Hereditary Breast Cancer Using Roche Platform

NewGene‚ a specialist molecular diagnostic company jointly owned by Newcastle Hospitals NHS Foundation Trust and Newcastle University‚ has developed an advanced gene sequencing process to successfully identify all mutations in the coding regions of two genes associated with inherited breast cancer – BRCA1 and BRCA2.

In the first application of its type‚ NewGene is successfully using the Roche 454 GS-FLX platform for complete sequencing of all BRCA genes. The breakthrough follows two years of assay development work with specially developed data analysis software to enable high volume testing of gene sequences to be undertaken at a level not previously possible.

This technology platform represents a much faster and higher capacity DNA sequencing process than is associated with the traditional Sanger technique used for this type of testing. The availability of the advanced test to UK and European healthcare providers will mean the earlier identification of family members at risk of developing breast cancer.

In addition‚ by reducing the cost of testing‚ health trusts will be able to extend hereditary breast cancer screening to those who may not currently qualify for gene sequencing. The NewGene technique makes the identification of mutations less labour intensive‚ reducing costs and producing faster reporting times.

As a result the test service can be provided at around half the cost of current NHS breast cancer hereditary testing and has a results turnaround time of as low as 4 weeks. The current NHS target for hereditary breast cancer testing is 8 weeks and actual timescales can be longer.

The new breast cancer test has already been successfully used in gene testing work carried out for the Northern Genetics Service‚ an NHS regional clinical genetics service serving NHS trusts across the North of England.

Dr. Michael Wright, Assistant Medical Director of Newcastle Hospitals NHS Foundation Trust and a Director of NewGene said:

“This test opens the way for NHS Trusts to significantly improve the speed and quality of the service that they provide to patients and their families whilst halving the cost per test at the same time. This will ensure more efficient use of the financial resources that are available to diagnose and treat heritable disease.

“Existing NHS breast cancer gene testing uses 20 year old technology that is both time consuming and costly. At a time when NHS budgets are under severe pressure the development of this new test is therefore an exciting breakthrough.

“Through our partnership with NHS organisations we have access to clinical patient samples which have enabled us to validate our testing and ensure identification of all mutations.

“As a result‚ compared to what is currently available‚ our new hereditary breast cancer gene sequencing test offers a step change in the ability to identify individuals who are mutation carriers.

“The lower costs and faster reporting times associated with the new test will increase the number of patients for whom breast cancer genetic testing has clinical utility so improving equity of access. This is particularly important as new drug therapies for patients with breast cancer become available.”

The new hereditary breast cancer test is the first of a planned series of new molecular diagnostic tests that are due to be introduced by NewGene for other complex genetic conditions and disorders.

Dr. Paul Brennan, Clinical Director of the Northern Genetics Service, said, “NewGene is an example of how the NHS can use new technologies to improve the quality and at the same time reduce the cost of patient care. By working in partnership with NewGene, we plan to deliver the benefits of next generation sequencing to our patients across various cancer genes.”