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Personalised whole genome sequencing doubles rare disease diagnosis

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Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, a new study from University College London (UCL) has found.

The department of health announced an NHS Genomic Medicine Service in 2018.

The service allows patients with rare diseases to have their entire genetic code read in the hope of providing a much-needed diagnosis.

However, the data can be incredibly difficult to interpret and many people with complex, rare genetic diseases still do not receive a molecular answer to the cause of their problems.

In the study, researchers at The London Mitochondrial Centre at UCL Queen Square Institute of Neurology and UCL Great Ormond Street Institute of Child Health aimed to offer such patients an improved chance of receiving a genetic diagnosis.

The researchers tested how using a genomic medicine team of specialist doctors, bioinformaticians, and scientists could boost the capabilities of NHS diagnostic laboratories beyond the standard semi-automated analysis of data.

The team at UCL re-evaluated undiagnosed cases to identify clues that might help direct further, more personalised analysis.

They then applied additional bioinformatic approaches, using advanced computer technologies to identify genetic alterations in a patients’ DNA which may be causing disease but had been overlooked during routine testing.

The work included a total of 102 undiagnosed patients, suspected of having a primary mitochondrial disease.

This large group of incurable genetic disorders that affect children and adults is associated with a broad spectrum of medical problems, severe disabilities, and reduced lifespan.

All the patients had undergone whole genome sequencing via the NHS’s 100,000 Genomes Project.

This personalised approach increased the diagnostic rate from 16.7 per cent to 31.4 per cent and also detected potential disease-causing variants in a further 3.9 per cent of patients.

Lead author, Dr Robert Pitceathly (co-lead for the London NHS Highly Specialised Service for Rare Mitochondrial Disorders and a research group leader at UCL Queen Square Institute of Neurology), said:

“The NHS has invested heavily in advanced genetic technologies. Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing.

“That said, some people with rare genetic diseases remain without a molecular diagnosis after their genome is analysed.

“We believe investing in specialist genomic medicine teams is crucial, ensuring equitable access to dedicated multidisciplinary expertise and maximising diagnoses.

“On average, patients in our study waited over 30 years for a diagnosis – we now have the capability to solve such cases but need adequate workforce planning to support NHS diagnostic genetic laboratories in achieving this goal.”

Receiving a genetic diagnosis enables patients to receive access to family planning, specialised IVF, and drugs trials.

The diagnosis can also permit targeted screening of known disease complications and access to drug studies.

Co-author, Dr James Davison (Metabolic Medicine Department at Great Ormond Street Hospital and chair of the British Inherited Metabolic Diseases Group), said:

“The journey to reaching a diagnosis for children and adults with rare, complex, medical conditions can be a very long process, and genomic medicine provides a transformative and powerful tool in helping reach that goal.

“This study highlights the importance of the collaboration between specialist clinicians and genetic scientists in interpreting the results of genome sequencing to maximise the opportunity of reaching a diagnosis which can then help guide medical management and treatment options.”

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