An NHS-owned genetics diagnostics firm has developed DNA-sequencing methods that significantly reduce the turnaround time and cost of a test for the identification of hereditary breast cancer risks.
Newgene, a genetic testing 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.
The current NHS target for hereditary breast cancer testing is eight weeks and actual timescales can be longer.
The new test method means hereditary breast cancer test turnaround times can be cut to as low as four weeks.
In addition, the new test can be provided at around half the cost of current NHS hereditary breast cancer testing.
The breakthrough follows two years of assay development and validation on a high-throughput next-generation DNA-sequencing platform, combined with specially designed data-analysis software.
This approach makes the identification of mutations significantly less labour intensive, which reduces costs and facilitates faster reporting times than the traditional Sanger technique currently offered by many NHS genetics laboratories.
The 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 East and north Cumbria.
The availability of the advanced test to all NHS trusts and private healthcare providers will mean the earlier identification of family members at risk of developing hereditary 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 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 genetic conditions and disorders.
