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Maureen Watt MSP learns about clinical demand for genetic testing at NHS Grampian Genetics laboratory 

"As set out in the Scottish policy for Rare Diseases, the Scottish Government is committed to improving the lives of individuals and families with rare conditions."

Maureen Watt, SNP MSP for Aberdeen South and North Kincardine

30th March 2018

Maureen Watt MSP visits the SGP team in Aberdeen

Maureen Watt, MSP for Aberdeen South and North Kincardine, visited the Foresterhill Health Campus in Aberdeen to learn more about how NHS Scotland clinical genetics services are delivered and the possible future impact of genomic testing.

Although Maureen was visiting as a local MSP, she is also the Minister for Mental Health and was particularly interested to learn more about how children with severe developmental disorders may benefit from the research being carried out through the Scottish Genomes Partnership (SGP).

During the visit, Maureen heard how work carried out in the NHS Scotland regional genetics laboratories underpins the diagnosis, treatment and management of a variety of rare and common conditions. She also learned that as we find out more about the genetic basis for such diseases, the demand for genetic tests within the NHS is increasing at an exponential rate.

Maureen Watt MSP visits University of Aberdeen and NHS Grampian, Zosia Miedzybrodzka, Mandy Ryan

Maureen Watt was welcomed to the University of Aberdeen and NHS Grampian by Zosia Miedzybrodzka (Professor of Medical Genetics and Honorary Consultant Clinical Geneticist) and Mandy Ryan (Professor of Health Economics)

Maureen Watt MSP visits University of Aberdeen and NHS Grampian, Zosia Miedzybrodzka, Dawn O'Sullivan

Senior NHS clinical scientist Dawn O’Sullivan explains the variety of genetic tests that are performed within NHS Grampian genetics laboratories, and the laboratory processes that must be followed to confidently make clinical decisions based on the test results.

Maureen decided to visit after hearing a presentation by Professor Zosia Miedzybrodzka at the 2018 Rare Disease Day event held at the Scottish Parliament. This presentation had highlighted the collaborative work being done through SGP to trial the use of whole genome sequencing for diagnosis in families with rare genetic conditions. This research, which is being carried out across Scotland, is led from the NHS Grampian study centre.

Information presented during the visit by the University of Aberdeen's Health Economics Research Unit also highlighted SGP research to explore better ways of measuring the health costs and benefits of whole genome sequencing, as a way to support future decision-making about when such tests should be used in routine NHS Scotland care.

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