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Blood test spots Rarely inherited diseases

By Robert Preidt
HealthDay Reporter

MONDAY 8 Nov. 2021 (HealthDay News) – Whole genome sequence of blood samples improve the detection of rare genetic conditions called mitochondrial disorders, British researchers report.

These disorders are inherited and affect about 1 in 4 300 people, causing progressive, incurable diseases.

Although it is one of the most common inherited disorders, mitochondrial disorders are difficult to diagnose because they can affect many organs and may look like a number of other conditions.

“A definitive genetic diagnosis can really help patients and their families, and give them access to customized prognosis and treatment information, genetic counseling and reproductive options, including pre-implantation genetic diagnosis or prenatal diagnosis, “study author Katherine Schon said in a University of Cambridge news release. She is a researcher in the university’s MRC Mitochondrial Biology Unit.

Current genetic testing fail to diagnose about 40% of patients, which can have significant consequences for them, their families and healthcare providers.

This study 345 people in the UK included with suspected mitochondrial disorders.

The researchers found that they could make a definitive or probable genetic diagnosis for 31% by a whole genome sequence from a single blood test. Standard tests, which are often more invasive, did not yield these diagnoses, the authors said.

The findings – published November 3 in the BMJ – joins plans in the UK to create a whole genome sequencing program to provide faster diagnoses.

“We recommend that whole genome sequencing should be presented early and before invasive tests such as a muscle biopsy, “said study author Patrick Chinnery of the University of Cambridge’s MRC Mitochondrial Biology Unit.

“All patients will have to do is have a blood test, which means it can be offered in a fair way across the country,” he said in the release. “People would not have to travel long distances to multiple appointments, and they would get their diagnosis much faster.”

A more reliable genetic test for mitochondrial disorders could also improve research on these disorders, according to the researchers.

More information

The United Mitochondrial Disease Foundation has more left mitochondrial disease.

SOURCE: University of Cambridge, news release, 3 November 2021

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