Guinness World Record highlights progress in faster genetic diagnosis

Charlotte Edwards 16 March 2018 (Last Updated March 16th, 2018 16:13)

A new Guinness World Records title for the fastest genetic diagnosis has been achieved by Rady Children’s Institute of Genomic Medicine (RCIGM) in San Diego.

Guinness World Record highlights progress in faster genetic diagnosis
The collaborative project led by Rady Children’s Institute of Genomic Medicine will speed up diagnoses for critically ill new-borns. Credit: Daniel.

A new Guinness World Records title for the fastest genetic diagnosis has been achieved by Rady Children’s Institute of Genomic Medicine (RCIGM) in San Diego.

RCIGM worked on the project to speed up diagnoses for critically ill new-borns in collaboration with Illumina, Alexion, Clinithink, Edico Genome, Fabric Genomics and Diploid.

It enabled scientists at RCIGM to compress the time needed to decode rare genetic disorders through DNA sequencing to 19.5 hours. The previous speed record of 26 hours was also set by RCIGM in 2015 by president and CEO of the institute Dr Stephen Kingsmore. He aims to pioneer the rapid turnaround and delivery of genetic test results to neonatal and paediatric intensive care physicians.

Kingsmore said: “Our evolving ability to find the answers to medical mysteries through rapid Whole Genome Sequencing is providing hope for babies and children with rare, genetic diseases. By speeding delivery of genomic insights, we are equipping physicians with the information they need to provide precision care for the youngest and most fragile patients.”

RCIGM has optimised an ultra-rapid, accurate and scalable process to decode human genomes by integrating several time-saving technologies. Key components come from Illumina, the global leader in DNA sequencing, including Nextera DNA Flex library preparation and whole genome sequencing via the NovaSeq 6000 and new S1 flow cell format.

Illumina president and CEO Francis deSouza said: “We believe Dr Kingsmore and his team are prototyping the future of paediatric care through their research and use of whole genome sequencing to accelerate diagnosis and reduce suffering.”

Other pipeline elements include Clinithink’s natural language processing platform that quickly combs through a patient’s electronic medical record to extract crucial phenotype information and Edico Genome’s highly accurate DRAGEN Bio-IT Platform that performs ultra-rapid sequence alignment and variant calling.

Clinithink CEO Dr Chris Tackaberry said: “We are absolutely delighted that our patented CLiX natural language processing solution played a key role in this success. Not only did this exciting project prove the value of our technology, the humbling reality is that this pioneering work can help save the lives of children with rare diseases. We are extremely proud of the contribution our solution can make to the care of those children.”

Interpretation capabilities are provided by Fabric Genomics’ clinical decision support software, OPAL, enabling rapid diagnosis by helping to pinpoint the source of genetic disease out of hundreds of possibilities.

Alexion’s rare disease and data science expertise enabled the translation of clinical information into a computable format for guided variant interpretation. The team also used Diploid’s autonomous gene variant interpretation software, MOON, to provide provisional diagnosis.

The entire RCIGM workflow is engineered to speed and scale up genomic data interpretation to reduce the time and cost of whole genome sequencing. By sequencing a blood sample, just one test can screen for thousands of diseases and quickly identify the root causes of a child’s condition to facilitate medical decision making.

Early intervention may avoid unnecessary treatment and invasive surgery and reduce hospitalisation time, ultimately reducing suffering, bringing down the cost of care and improving quality of life for affected babies and children.

RCIGM is now focused on building a research-to-bedside pipeline which they hope to extend to children’s hospitals nationwide.

Kingsmore said: “Our hope is that paediatric genomic medicine will one day become routine so that ultimately all children who need it can have access to this life-saving technology.”