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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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Developing a Paired Whole Genome Sequencing Service for Children With Cancer.

L Sarkies1, P Thomas1, E A Edeko1

  • 1Cambridge University Hospitals NHS Foundation Trust, UK.

Clinical Oncology (Royal College of Radiologists (Great Britain))
|August 30, 2024
PubMed
Summary

Paired whole genome sequencing (PWGS) in pediatric oncology successfully identifies cancer predisposition syndromes. This approach ensures at-risk families receive genetic counseling and testing, improving cancer care equity.

Keywords:
GenomicsGermline cancer predispositionPaired WGSPediatrics

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Area of Science:

  • Genomic Medicine
  • Pediatric Oncology
  • Cancer Predisposition Syndromes

Background:

  • Paired (tumor and germline) whole genome sequencing (PWGS) is crucial for cancer diagnosis and management.
  • PWGS identifies oncogenic drivers, treatment targets, and hereditary cancer syndromes.
  • Identifying cancer predisposition syndromes has significant implications for patients and their families.

Purpose of the Study:

  • To describe the process of integrating PWGS into routine National Health Service (NHS) clinical care for pediatric cancer patients.
  • To share experiences and facilitate the establishment of similar services in other centers.
  • To lay the groundwork for future quantitative and qualitative research on PWGS in pediatric oncology.

Main Methods:

  • Descriptive article detailing the implementation of PWGS in clinical practice.
  • Audit of pediatric cancer patients with confirmed underlying cancer predisposition syndromes.

Main Results:

  • 100% of families identified at risk for cancer predisposition syndromes were offered clinical genetics referral.
  • 100% of at-risk first-degree relatives were offered predictive counseling and testing.
  • Improvement needed in documenting discussions on reproductive options (67% of families).

Conclusions:

  • Implementing audit recommendations will enhance the PWGS service.
  • Sharing experiences can encourage wider adoption of PWGS in pediatric oncology.
  • Further research is needed on long-term cancer risk reduction and psychosocial impact.