The advantages of whole-genome testing for inherited eye disease

University of Leicester researchers have outlined the advantages of whole-genome testing for inherited eye disease in a new study published in NPJ Genomic Medicine.

A research team led by Dr Mervyn Thomas and Dr Mahmoud Fassad examined whole-genome sequencing data relating to 473 individuals across 388 families with inherited eye disease.

Using this data, they were able to identify the genetic causes of eye conditions in 46% of individuals.

They found that 45 families had mutations in genes that would be missed in standard diagnostic tests.

The scientists determined that a pattern in the TYR gene was the most common cause of disease in the study group – however, this is frequently overlooked in standard tests.

Fassad noted that the findings suggest full genome testing can provide a quicker path to diagnosis for families with complex eye conditions.

“Knowing the exact gene involved can alert doctors to related health issues,” he highlighted.

“It means that patients can be checked and supported earlier and families get clearer information about inheritance and the chances of the condition occurring in future children,” Fassad said.

Thomas observed that the genetic architecture of infantile nystagmus and albinism is far more complex than previously appreciated.

“Standard gene panels are simply not enough,” he said.

“The breadth of diagnoses found, including rare syndromes and dual diagnoses, makes a compelling case for whole-genome sequencing as the first-line diagnostic tool,” Thomas emphasised.

Funding support for the study came from the National Institute for Health and Care Research, the Ulverscroft Foundation, Fight for Sight and the Medical Research Council.