Illumina supports genetic disease diagnosis in critically ill children

GERMANY – Illumina, Inc. a world leader in array-based and DNA sequencing technologies, has announced an agreement with the Hannover (Medizinische Hochschule Hannover (MHH)) in Germany to implement the use of whole genome sequencing (WGS) in seriously ill children suspected of having a genetic or rare disease.

The project, led by the Department of Human Genetics at MHH, will evaluate the use of WGS in neonatal and pediatric intensive care unit settings to demonstrate the positive impact of earlier diagnosis and treatment for hospitalized children.

At least 100 children in intensive care with suspected genetic disorders will be tested, whenever possible as a trio (affected child and their parents), to assess the diagnostic performance of rapid whole genome sequencing (rWGS).

The results of the study will be used to challenge existing inclusion and exclusion criteria for rWGS eligibility in intensive care settings and will help establish adequate evidence for early use of rWGS in the German healthcare system.

Recent studies in Canadian, UK and US healthcare systems on rapid WGS (trio) in critically ill children have shown that it has great clinical value for pediatric precision medicine due to its high diagnostic rate and short time. leading up to diagnosis.


Time is critical for children in intensive care with suspected genetic disease, and through this study we hope to lead the way in applying cutting-edge genomics to improve healthcare and bring peace of mind to families,” said Bernd Auber, MD, Human Geneticist at Hannover Medical School, whose team is leading the study.

“Our aim is to implement whole-genome sequencing as a decision-making tool in neonatal and pediatric intensive care units, ideally replacing routine diagnostic tests currently used. We are grateful to Illumina for their support.”

Rare diseases, of which over 7,000 are known, are major causes of infant hospitalization and mortality. A rare disease affects about 2-6 percent of the global population, and while 80 percent of these have a genetic component, many patients struggle to find a diagnosis. On average, the diagnostic odyssey can take five to seven years.

The project will also capture the clinical utility of rWGS in terms of changes in patient care and management.

Additionally, it will analyze the health economic impact on the hospital by comparing the costs of rWGS versus the existing diagnostic pathway for a critically ill child with a suspected genetic disorder.

Illumina is supporting the project by providing reagents for the library preparation of DNA and sequencing reagents for the WGS samples.

The German study will contribute to a growing body of evidence generated in other countries — including Australia, Canada, the United Kingdom and the United States — showing that WGS offers significant benefits for diagnosis of genetic disease in critically ill infants.

Similar studies to evaluate the role of WGS in critically ill children are underway in other countries such as Dubai’s Al Jalilah Children’s Specialty Hospital, and Israel’s national pilot program in neonatal intensive care units.

WGS is the most comprehensive method for genetic disease testing and allows identification of pathogenic variants in non-coding regions as well as unprecedented detection of disease-causing single nucleotide variants, small insertions and deletions, and copy number and structural variants, among others.

WGS can accelerate time to diagnosis for patients with suspected genetic diseases, ending the long and painful odysseys for patients and their families, helping optimize treatment and management.

Use of rWGS for diagnosing genetic conditions in critically ill children in intensive care settings requires fast turnaround of results (in less than 10 days), enabling timely provision of optimal care.

Current diagnostic options are based solely on conventional approaches such as single gene tests, gene panels, and chromosomal microarray.

Illumina is improving human health by unlocking the power of the genome. The company’s focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical and applied markets.

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