Last week, the UK charity Breakthrough Breast Cancer published a report, 'Testing Times: waiting for genetic test results', calling on the Government to end the long delays some women face to find out if they carry the faulty genes associated with hereditary breast cancer.
The report recognises that progress in science and genetics promises major advances not just in the diagnosis and management of certain conditions, but also in the prediction and ultimate prevention of disease.
Where there is a strong family history of breast cancer, it is possible to take a genetic test to help predict the chance of healthy family members developing the disease. The majority of breast cancer genetic testing looks for faults or changes in the breast cancer genes BRCA1 and BRCA 2. Women who carry the defective genes have a lifetime risk of developing breast cancer of up to 85 per cent. The result of this genetic test enables these women to make informed decisions regarding whether to have preventative surgery and early screening.
In its 2003 white paper 'Our Inheritance, Our Future - Realising the Potential of Genetics in the NHS' (June 2003) the Government made a commitment to reducing waiting times for the results of genetic tests to within two or eight weeks, depending on the type of test taken, by 2006. However, as Breakthrough's report highlights, these targets have yet to be met. Bringing together both the latest lab audit results and the experiences of patients and genetic counsellors, the report also reveals the devastating impact that long waits can have on the lives of those tested and their families.
Despite the white paper identifying 2006 as the deadline for meeting the waiting times, the latest lab audit results show that the average waiting time for a BRCA diagnostic genetic test result has increased over the last three years to six and a half months. Genetic testing waiting times are extremely variable across the UK and some women are waiting for two years or longer for their result. In some cases, women are having preventative surgery without receiving their genetic test result, simply because they are too worried to wait any longer. Other people decide to go for private testing rather than wait for extended periods of time.
This situation is not exclusive to those affected by breast cancer. Other patients, including those with other inherited cancer conditions, are also waiting a long time for their genetic test results.
The report acknowledges the laboratories responsible for genetic testing are working hard to meet the waiting times set by the white paper and identifies a number of remaining challenges including: setting up new laboratory equipment, clearing sample backlogs, and reconfiguring services.
The genetic counsellors surveyed by Breakthrough suggested a lack of adequate laboratory resources and staff as the main reason for the current lengthy waiting times. Nevertheless, approximately 70 per cent of the genetic counsellors surveyed also said they have been made aware of improvements that may occur in the next year as laboratories rise to meet the hurdles outlined above.
Breakthrough's report calls for a fulfilment of the Government's vision, as set out in the Genetics white paper. One of the main recommendations is for the Government to establish a taskforce, chaired by a Minister, responsible for setting out a timetable for action aimed at ensuring everyone receives their genetic test results within two or eight weeks, depending on the type of test taken.
Breakthrough is also calling for the Government to ensure that the existing backlog of samples is cleared, if necessary through a specific backlog management exercise. Lastly, the Government must ensure a long-term strategy is developed to improve and support NHS genetics services, placing UK patients at the forefront of the genetics healthcare revolution. Patients want to receive high quality genetic test results in a timely fashion, and with a concerted effort the NHS should be able to provide the services patients need and expect.
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Women left waiting in limbo for genetic test results