Improving Patient Outcomes Through Optimising Diagnostic Genetics Services

Abstract

The completion of mapping the human genome, coupled with advancements in sequencing technology, has significantly increased the value of clinical genetics. This resulted in a rapid growth in the demand for genetic tests, placing huge pressure on diagnostic genetics services. To continue delivering high quality services, these facilities maintain a continuous effort to improve and optimise routine operations. Here, we investigated three areas of improvement that may optimise workforce time and minimise the repetition of invasive tests within genomic healthcare facilities. Different approaches were used to address each area of improvement. An NHS work placement was conducted to measure the impact of outsourcing the task of primer design on alleviating the workload for the clinical staff. This showed promising potential to save significant time and cost for the NHS. To further reduce the staff’s workload, another approach aimed to develop the karyotyping skills of graduates entering the job market, to reduce the time spent by senior staff on training and supervising these graduates after their employment begins. Although the karyotype training applied in this project may have limited impact on alleviating the workload for the staff, it provided a model that could be beneficial if applied on a larger scale. To avoid unnecessary invasive tests, the last approach proposed a plan to validate a fluorescent in situ hybridisation probe with a previously reported poor performance issue. The proposal investigates alternative options that could reduce the fail rate of the probe and consequently minimise the need for invasive test repetition. Altogether, the approaches explored in this project could potentially improve patient outcomes with a promising significant impact if applied on a larger scale.