HUNTER-based pathologists are the first in Australia to use next generation sequencing technology to test for a new breast cancer gene.
The gene, PALB2, was discovered following a worldwide study carried out last year.
The study found mutations in the gene were as strongly linked to breast cancer as mutations in the previously identified BRCA1 and BRCA2 genes.
NSW Health’s Newcastle pathology (Pathology North) was the first pathology laboratory in Australia to receive national accreditation for diagnostic testing for mutations in BRCA1 and BRCA2 genes.
It is now the first to offer diagnostic screening for mutations in the PALB2 gene.
‘‘In the last four months alone the Pathology North team has analysed more than 500 samples for BRCA1 and 2 using the Next Generation sequencing equipment NSW Health Pathology Genomics Project Manager Dr Cliff Meldrum said.
‘‘Now that we can test for mutations in the PALB2 gene as well, we can provide more comprehensive testing at a much faster rate than ever before.’’
Pathology North has already significantly increased turnaround times since it started screening in for PALB2 in October 2014.
The new equipment allows six patients to be tested per day, compared to two using the older equipment.
It has also reduced the number of manual steps, improving turn-around times and significantly lowering the cost of testing by about 40 per cent.
‘‘About 12 per cent of the general population is at risk of developing breast cancer, but that risk rises to about 60 per cent for those with a family of cancer and a mutation in the PALB2 gene,’’ Dr Meldrum said.