Sunday, July 3, 2022
No Result
View All Result
Medical Finance
  • Home
  • News
  • Interviews
  • Mediknowledge
  • Insights From Industry
  • Thought Leaders
  • Coronavirus
  • Whitepapers
  • Home
  • News
  • Interviews
  • Mediknowledge
  • Insights From Industry
  • Thought Leaders
  • Coronavirus
  • Whitepapers
No Result
View All Result
Medical Finance
No Result
View All Result
Home News

Whole-genome sequencing can help provide an accurate diagnosis of severely ill infants

by Medical Finance
in News
Phico Therapeutics establishes Scientific Advisory Board
9
SHARES
99
VIEWS
Share on FacebookShare on Twitter

Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care.

But whole-genome sequencing (WGS), carried out rapidly, can provide an accurate diagnosis and therefore lead to improvements in their clinical care. Results from an Australian study of such a use of WGS presented to the annual conference of the European Society of Human Genetics today (Sunday) show how the integration of genomic, transcriptomic, and functional data can accelerate rare disease diagnosis on a national scale.

The evidence of diagnostic, clinical, and family benefit of rapid genomic testing in critically ill children is overwhelming. This type of testing should become the standard of care for these patients. And rapid genomic diagnosis programs should continue to drive improvement, innovation, and discovery more broadly.”


Zornitza Stark, Professor and Clinical Geneticist, Victorian Clinical Genetics Services and Australian Genomics, European Society of Human Genetics

The researchers carried out nationwide ultra-rapid WGS in 290 critically ill pediatric patients with rare disease between January 2020 and January 2022. They aimed to have diagnoses in less than five days. “We wanted the program to serve as an exemplar of how genomics can improve diagnostic and clinical outcomes in pediatric disease in real time,” says Prof Stark. “We have now incorporated RNA sequencing and, through close collaboration with clinicians and researchers, optimized the use of functional data to secure additional diagnoses.”

Ultra-rapid WGS resulted in a diagnosis in 136 patients, with an average time to diagnosis of just under three days. Of the 154 patients who were not diagnosed by standard WGS analysis, RNA sequencing, functional assays and other tests led to an additional 20 diagnoses. New disease-causing genes were also identified through international matchmaking efforts, and studies are underway to find further diagnoses.

Although the cost of genomic testing remains high compared with other diagnostic investigations, particularly when delivering results in rapid turnaround times, its use provides substantial savings to healthcare systems in the longer term. Complex, time-critical tests such as ultra-rapid WGS are best delivered by a multi-disciplinary team, and that means that both capacity and capability in the clinical and laboratory genetics workforce need to be grown, says Prof Stark.

“Our approach can serve as a model in other healthcare systems, although it will need to be adapted to local circumstances and to evolve over time. For example, Australia has a very geographically dispersed population, which is relatively small compared to the land area. It made sense for us to have a central sequencing laboratory for this study, with a lot of attention paid to sample transport logistics and to including local teams in analysis through virtual meetings. Different models will be needed in countries with high population density.

“Undoubtedly, there are also adults with rare diseases who would have benefited from ultra-rapid genomic diagnosis but were excluded from the study,” Prof Stark says. Clinical genetics services have traditionally been much more involved in providing consultation in neonatal and pediatric intensive care units, facilitating the identification of patients who would benefit from rapid genomic testing, so raising awareness of genomics in the adult intensive care setting will be a challenge in extending access.

Ethical questions are involved too, especially around consent. Families are overwhelmed and distressed when their child is critically ill, so how to best facilitate informed consent is a problem? Indeed, is consent always necessary? Can it be withheld? How should the diagnosis of a genetic condition influence decisions by treating clinicians and by families? Is rapid genomic testing a fair use of resources? All these are important and difficult questions.

“There are still many challenges to be faced, not least finding a way to quickly transition succcessful research programs into the clinical setting, but we believe our work has shown that ultra-rapid WGS has diagnostic, clinical, and economic benefit on a national level,” says Prof Stark. “We hope that our approach will soon become part of mainstream diagnostic practice not just in Australia, but also further afield.”

Source:

European Society of Human Genetics

Total
0
Shares
Share 0
Tweet 0
Pin it 0
Share 0
Medical Finance

Medical Finance

Related Posts

Horizontal gene transfer between viruses and hosts plays a major role in driving evolution

Chemical-based sequencing method to efficiently study DNA methylation

by Medical Finance
July 3, 2022
0

One way cells can control the activities of their genes is by adding small chemical modifications to the DNA that...

Dr. Annette Rinck appointed as President of Leica Microsystems

Dr. Annette Rinck appointed as President of Leica Microsystems

by Medical Finance
July 3, 2022
0

Leica Microsystems, a leading manufacturer of microscopes and scientific instruments, has announced the appointment of Dr. Annette Rinck as its...

What are the benefits of Irish Life Sciences’ new 2.2 mL square well ‘V’ bottom plate?

INTEGRA launches voice-activated pipettes

by Medical Finance
July 3, 2022
0

INTEGRA Biosciences has created the future of pipetting with the release of voice-activated pipettes. Initially available for VOYAGER pipettes and...

Manipulating voltage patterns in tumor cells reduces breast cancer metastasis in animal models

Yale researchers identify accelerated genetic aging in breast tissue adjacent to tumors

by Medical Finance
July 3, 2022
0

An analysis by Yale Cancer Center researchers identified accelerated genetic aging in breast tissue adjacent to breast cancer tumors. Their...

Ultra-rapid genome sequencing technology can detect rare genetic diseases in eight hours

First complete, gapless sequence of a human genome published

by Medical Finance
July 3, 2022
0

Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced...

RNA-chopping enzyme Dicer stabilizes mammalian chromosomes with the help of BRD4 activator

UW Medicine scientists contribute to the publication of first complete, gapless genome sequence

by Medical Finance
July 3, 2022
0

UW Medicine genome scientists were among the leading contributors to the publication of the first complete, gapless sequence of a...

Next Post
Dog brains can detect speech and show different activity patterns to many languages

Pioneering technique uses a magnetic device to stimulate touch sensitive brain glial cells

Study: Towards SARS-CoV-2 serotypes? Image Credit: Fit Ztudio / Shutterstock.com

Should SARS-CoV-2 Omicron be considered a serotype?

0 0 votes
Article Rating
Subscribe
Login
Notify of
guest
guest
0 Comments
Inline Feedbacks
View all comments

Support

  • Contact
  • Disclaimer
  • Home
  • Privacy Policy
  • Terms And Conditions

Categories

  • Coronavirus
  • Insights From Industry
  • Interviews
  • Mediknowledge
  • News
  • Thought Leaders
  • Whitepapers

More News

  • Chem Lab c618f8c3be2845828afd242b15eaaa94 620x480
    Sugar-decorated proteins in mucus could prevent SARS-CoV-2 viruses from spreading from surfaces
  • Study: SARS-CoV-2 Omicron-neutralizing memory B-cells are elicited by two doses of BNT162b2 mRNA vaccine. Image Credit: Kateryna Kon/ Shutterstock
    Memory B cells induced by mRNA vaccine may help generate antibodies against Omicron
  • Home
  • Privacy Policy
  • Contact
  • Disclaimer
  • Terms And Conditions

© 2022 Medical Finance - Latest Financial and Business News

No Result
View All Result
  • Interviews
  • Mediknowledge
  • News
  • Insights From Industry
  • Coronavirus
  • Thought Leaders
  • Whitepapers
wpDiscuz
0
0
Would love your thoughts, please comment.x
()
x
| Reply