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Further ongoing and new work in the area of dental the Scottish Genomes Partnership (SGP), we began
care is being used to develop methods for embedding a research project ‘Should Scotland provide whole
the results of discrete choice experiments (DCEs) in genomic sequencing for diagnosis of rare disorders?
trial based economic evaluations. Examples include A health economic analysis’ which also incorporates
the recently completed ‘INTERVAL’ trial which is the results of a DCE into a decision model.
expected to publish in 2020, and the newly funded
Further detail on the theme’s research can be found
‘SCRIPT’ trial mentioned above. Funded by the Health
at www.abdn.ac.uk/heru/research/assessment-of-
Improvement, Protection and Services Committee of
technologies/
the CSO, and in collaboration with the Department of
Medical Genetics at the University of Aberdeen and

Should Scotland provide whole

genomic sequencing for diagnosis
of rare disorders? A health
economic analysis
HERU investigators: Mandy Ryan, Lynda
McKenzie, Rodolfo Hernández, Michael Abbott
Taken together, rare disorders are common and
affect 6-8% of the Scottish population. Most are
severe and life-threatening with a profound impact
upon the quality of life and wellbeing of the individual and their family. The typical journey to diagnosis,
the ‘diagnostic odyssey’, can take many years, with numerous hospital visits, costly and invasive tests,
several misdiagnoses, and shattered hopes and expectations; many families never receive a diagnosis.
As 80% of rare disorders have a genetic origin, increasing access to genetic diagnosis offers a potential
solution. Standard genetic testing is limited to examination of DNA from single gene variants to smaller
gene panels and is triggered by specialist clinical suspicion. Next generation sequencing (Whole Genome
Sequencing (WGS) and Whole Exome Sequencing (WES)) is expected to increase diagnostic yield and
enable quicker diagnosis. Potential benefits to patients and families include improved diagnostic
yield, reduced length and scope of the diagnostic odyssey, reduced need for clinical attendance and
investigative tests, and information for family planning and clinical management. However, little is known
about how patients and families value such aspects of comprehensive DNA sequencing. The financial
implications are also unclear.
Building on our Scottish Genomes Partnership (SGP) funded work, this study will address the evidence
gap around the benefits to service users (patients and families) and assess the resource implications of
different genomic testing pathways.
This two-year project in collaboration with Professor Zosia Miedzybrodzka, Dr Lynne Mennie and Caroline
Clark (Medical Genetics, University of Aberdeen), and the Scottish Genomes Partnership (SGP).

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