Silvia Borras of NHS Grampian – part of the Scottish Strategic Network for Genomic Medicine – writes for Pathology in Practice, describing her laboratory’s experience of scaling up and automating its genetic testing for familial hypercholesterolaemia.
Familial hypercholesterolaemia (FH) is an inherited condition characterised by significantly elevated levels of low-density lipoprotein cholesterol (LDL-C), substantially increasing the risk of early coronary heart disease. With an estimated prevalence of around 1 in 250 worldwide, accurate and efficient genetic testing is crucial for early diagnosis, treatment optimisation, and family screening.
At NHS Grampian, our genetics laboratory is part of the Scottish Strategic Network for Genomic Medicine, delivering diagnostic testing for rare and inherited disorders and cancer for the local population of north-east Scotland, Orkney, and Shetland, and also providing a range of genomic services nationwide. Annually, we handle approximately 14,000 samples, of which more than 1,000 are referred specifically for FH screening, one of our national service responsibilities.
Scaling up: our move to NGS
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