New Australian study to use genome testing for rare lung disease

5 February 2018 (Last Updated February 5th, 2018 10:43)

A new research study being conducted by the University of New South Wales (UNSW) is set to use next-generation genome testing for the early detection of interstitial and diffuse lung disease in children (chILD) in Australia.

A new research study being conducted by the University of New South Wales (UNSW) is set to use next-generation genome testing for the early detection of interstitial and diffuse lung disease in children (chILD) in Australia.

chILD is a group of about 200 rare chronic lung disorders characterised by lung tissue thickening that leads to symptoms such as rapid breathing, chronic coughing, and weight loss. It affects about one in every 100,000 children born in Australia.

Australian Genomics Health Alliance has provided $485,000 to support this study, which aims to improve healthcare through early diagnosis and treatment of the disease.

Named chILDRANZ, the study will select 120 children across Australia over a period of two years beginning in April. The children will undergo a whole exome sequencing test that simultaneously analyses numerous genes.

It is expected that the test will improve the chance of accurate diagnosis, standards of care, diagnostic awareness of child and referral practice, as well as standardise care management.

“We hope to discover more genes and be able to store genomic information that we can revisit for undiagnosed illnesses.”

UNSW School of Women’s and Children’s Health professor Adam Jaffe said: “Children with rare lung disease struggle to get an accurate diagnosis and often doctors have never heard of the disease.

“Using whole exome sequencing, we hope to discover more genes and be able to store genomic information that we can revisit for undiagnosed illnesses.

“There is an extraordinary change happening in genomics.”

The testing currently analyses known genes, leading to the detection of only 12% of rare lung diseases.

UNSW intends to use the new funding to build a registry of children with the lung disorders for providing a coordinated care approach and an option to participate in clinical trials.