Blood Test Spots Rare Inherited Diseases

By Robert Preidt
Health Day reporter

MONDAY, November 8, 2021 (HealthDay News) – Whole genome sequencing of blood samples improves detection of rare genetic diseases called mitochondrial disorders, UK researchers report.

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

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

“Definitive genetic diagnosis can really help patients and their families, giving them access to personalized information on prognosis and treatment, genetic counseling and reproductive options, including preimplantation genetic diagnosis or prenatal diagnosis,” Study author Katherine Schon said in a statement from the University of Cambridge. Release. She is a researcher in the mitochondrial biology unit of the university’s MRC.

Current genetic tests fail to diagnose around 40% of patients, which can have serious consequences for them, their families and health care providers.

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

The researchers found that they could make a 31% definitive or probable genetic diagnosis by sequencing an entire genome from a single blood test. Standard tests, which are often more invasive, have failed to make these diagnoses, the authors said.

The results – published on November 3 in the BMJ – is consistent with plans in Britain to create a full genome sequencing program to provide faster diagnostics.

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

“All patients would need to do is have a blood test, which means it could be offered across the country on a fair basis,” he said in the statement. “People wouldn’t have to travel long distances to get 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, the researchers say.

More information

The United Mitochondrial Disease Foundation has more information on mitochondrial disease.

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

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