There is a clear move away from a ‘one size fits all’ approach to medicine and instead a new personalized medicine strategy is becoming more important. Mike Furness explains more about multiomics.
It has been known for a while that people with different genotypes respond to drugs differently. Knowledge gained from studying rare genetic disease has improved understanding of important biological pathways, creating the opportunity for more effective treatments.
For early developmental diseases this has meant that each symptom is investigated in isolation, by a specialist in that area. The patient is sent from one clinician to another. On average a child with a rare genetic disease will been seen by seven physicians over a five year period before a diagnosis may be found. For many of these children there will be no diagnosis but recent advances in genomics will address this problem.
It was against this background that the Discovering Development Disease (DDD) project was established between the NHS and the Wellcome Trust Sanger Institute. It has so far genotyped around 14,000 children with undiagnosed conditions and their parents, providing diagnoses for around 40% of these families, and identifying clusters of affected children that had similar clinical characteristics and shared damaging genetic variants in the same gene. Many of these genetic diseases are so rare that a clinician may see only one or two cases in a career; so being able to compare their patient’s genetics to this growing body of knowledge is a major step forward in helping consultants determine a definitive diagnosis.
Read more: A personal interpretation
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