Abstract
The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid...
Highlights
For people with familial or early-onset disease, a molecular genetic diagnosis may minimise the need for further investigation, allow accurate counselling on inheritance and familial risk and increasingly define eligibility for therapeutic trials such as antisense oligonucleotide therapy directed towards the underlying genetic cause
The advent of high- throughput parallel DNA sequencing means that these potential genetic causes can be rapidly evaluated, and the patient’s DNA sequence can be determined accurately and reasonably cheaply when compared with tests like magnetic resonance scanning
The frequency of the DYT1 GAG deletion can be estimated to be 0.02% with 30 pathogenic alleles seen in ~140 000 genomes/exomes
Summary
From the neurologists’ standpoint it is worthwhile emphasising that the clinician’s role is essential in ensuring that the phenotype has been correctly defined, evaluating further family members for segregation, and in helping the diagnostics laboratory to evaluate the likely role of pathogenic mutations identified in genome sequencing—the genome cannot be interpreted without the clinical data. The results of risk factor gene analysis, for variants that confer a relatively low risk (eg, ApoEe4) or genes for which there is currently no therapeutic intervention (eg, Huntington’s disease gene pathogenic expansion), are not fed back to patients as additional findings It is important for the patient and the clinician not to assume that a test, for example, for ataxia, will cover all other genetic conditions. When it comes to evaluation and counselling of the wider family and consideration of predictive/antenatal testing, this can only be carried out in specialist genetics/ neurogenetics clinic setting, with appropriate counselling and support, and onward referral to a specialist clinic should be considered for all patients
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