Genomics 100,000 Project Flashcards
(16 cards)
What was the purpose of the 100,000 Genomes Project?
To explore how whole genome sequencing can improve personalised care, especially in cancer treatment.
What are the two types of DNA sequenced in the 100,000 Genomes Project?
Tumour DNA and constitutional (non-tumour) DNA.
What is the constitutional genome?
The inherited DNA present in nearly every cell of the body.
What benefit does comparing tumour and constitutional genomes offer?
It helps identify the genetic changes driving cancer.
What percentage of brain tumour samples had identifiable genetic changes in the study?
Over 90%.
What percentage of lung and colon cancer samples had actionable genetic changes?
Over 50%.
What proportion of ovarian cancers were linked to inherited variants?
Over 10%.
What proportion of high-grade serous ovarian cancers were linked to inherited variants?
0.3
What clinical value do inherited variants in the constitutional genome provide?
They can inform family risk and support preventive strategies.
What is the main clinical benefit of whole genome sequencing (WGS) in cancer care?
Personalised treatment planning and avoidance of ineffective treatments.
How does WGS help clinicians manage patient expectations?
By enabling more accurate outcome predictions and tailored care.
Which organisations led the study published inʎature Medicine?
NHS England, Genomics England, Queen Mary University of London, Guyճ and St ThomasՠNHS Foundation Trust, and the University of Westminster.
Who is Dr Nirupa Murugaesu?
Oncology consultant and cancer genomics lead at Guyճ and St ThomasՠNHS Foundation Trust.
What did Dr Murugaesu say about the 100,000 Genomes Project?
It is beginning to realise the promise of precision oncology envisioned ten years ago.
What role does the 100,000 Genomes Project play in the NHS Genomic Medicine Service?
It acts as a forerunner and continues to inform its development.
What did Prof. Dame Sue Hill say about the study?
It builds the evidence for genomic testing to deliver precise diagnoses and treatments.
