Whole-genome sequencing WGS increases the diagnosis of rare genetic diseases by nearly a third

Whole Genome Sequencing of a single blood test detected 31% more cases of rare genetic diseases than standard tests, shortening the "diagnostic Odyssey" that affects the family experience, and providing huge opportunities for future research

[A copy of the research paper can be accessed here: https://drive.

One out of every 4,300 people suffers from mitochondrial diseases, which can lead to progressive, incurable diseases

The current genetic testing system fails to diagnose about 40% of patients, which has a major impact on patients, their families and the health services they use

A new study published today in the British Medical Journal (BMJ) brings hope to undiagnosed families and supports the establishment of a national diagnostic plan based on whole-genome sequencing (WGS) in the UK for faster diagnosis and more accurate diagnosis.

Although previous studies based on small-scale, highly selective cohorts have shown that WGS can identify mitochondrial diseases, this is the first time that its effectiveness has been tested in the NHS, the national healthcare system

The study was led by researchers from the Mitochondrial Biology Unit of the British Medical Research Council and the University of Cambridge Clinical Neuroscience and Medical Genetics.

A total of 345 participants-ages from 0 to 92 years old, with an average age of 25-performed whole-genome sequencing

Surprisingly, 62.

Professor Patrick Chinnery from the MRC Mitochondrial Biology Research Group and the University of Cambridge Department of Clinical Neuroscience said:

“We recommend that whole-genome sequencing should be provided as early as possible before invasive tests such as muscle biopsy

Dr.

"A clear genetic diagnosis can really help patients and their families, allowing them to obtain customized information about prognosis and treatment, genetic counseling and reproductive options, including preimplantation genetic diagnosis or prenatal diagnosis

Among the researchers' diagnosis results, 37.

However, the majority of the team's diagnoses (62.

Chinnery said: "These patients are referred for suspected mitochondrial diseases, and traditional diagnostic tests are specifically for mitochondrial diseases

Therefore, a small number of newly diagnosed participants are already receiving treatment

Chinnery said: "The UK's diagnostic services are fragmented and unevenly distributed, which poses major challenges for patients with rare diseases and their families
.
" By implementing a national plan based on a genome-wide approach, everyone can be provided with the same level of service
.

Schon said: "If we can create a national platform for families with rare diseases, we can give them the opportunity to participate in clinical trials, so that we can get definitive evidence that new treatments are effective
.
"

The study pointed out that the number of patients who may be diagnosed is relatively high, which reflects the need to increase investment to analyze the functional impact of new gene variants that may cause disease, but it is not yet certain
.

It also believes that rapid trio whole-genome sequencing should be provided to all people who are acutely unwell and suspected of mitochondrial diseases, so that the results can help guide clinical management
.
Currently, in the UK, this is only available to severely ill children
.

Dr.
Ellen Thomas, Clinical Director and Quality Director of Genomics, UK said:

"We are very pleased to see that the data generously donated by 100,000 genome project participants has made such an important research possible
.
From these results, it is clear that they are very interested in a rich, important, and safe data set.
Our contribution is the key to how to promote genomic research, leading to these insights, which then have the potential to return to the NHS and their patients
.
We look forward to seeing how these findings support future care of patients with suspected mitochondrial diseases
.
"

refer to

KR Schon et al.
"Using whole-genome sequencing to determine the genetic basis of suspected mitochondrial diseases: a cohort study", British Medical Journal (2021)
.
bmj DOI: 10.
1136 /-2021-066288

funds

The National Institute of Health, the British National Health Service, Wellcome, the British Cancer Institute and the Medical Research Council within the UK Research and Innovation
.

Media contact:

Tom Almeroth-Williams, Communication Manager (Research), University of Cambridge: researchcommunications@admin.
cam.
ac.
uk / Tel: +44 (0)7540 139 444

Magazine

BMJ

DOI

10.
1136/bmj-2021-066288

Subject of research

people

Article title

Using whole-genome sequencing to determine the genetic basis of suspected mitochondrial diseases: a cohort study

Article publication date

3-November-2021