Skip to main content
bioRxiv
  • Home
  • About
  • Submit
  • ALERTS / RSS
Advanced Search
New Results

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

Angela George, Daniel Riddell, Sheila Seal, Sabrina Talukdar, Shazia Mahamdallie, Elise Ruark, Victoria Cloke, Ingrid Slade, Zoe Kemp, Martin Gore, Ann Strydom, Susana Banerjee, Helen Hanson, Nazneen Rahman, for the Mainstreaming Cancer Genetics (MCG) Programme
doi: https://doi.org/10.1101/044024
Angela George
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London
2Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London
3The Gynaecological Cancer Unit, The Royal Marsden NHS Foundation Trust, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Daniel Riddell
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sheila Seal
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London
4TGLclinical, The Institute of Cancer Research, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sabrina Talukdar
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London
4TGLclinical, The Institute of Cancer Research, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Shazia Mahamdallie
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London
4TGLclinical, The Institute of Cancer Research, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Elise Ruark
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Victoria Cloke
4TGLclinical, The Institute of Cancer Research, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ingrid Slade
5Oxford University NHS Hospital Trust, Oxford
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Zoe Kemp
2Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Martin Gore
3The Gynaecological Cancer Unit, The Royal Marsden NHS Foundation Trust, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ann Strydom
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London
4TGLclinical, The Institute of Cancer Research, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Susana Banerjee
3The Gynaecological Cancer Unit, The Royal Marsden NHS Foundation Trust, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Helen Hanson
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London
2Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Nazneen Rahman
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London
2Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London
4TGLclinical, The Institute of Cancer Research, London
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Abstract
  • Full Text
  • Info/History
  • Metrics
  • Supplementary material
  • Preview PDF
Loading

SUMMARY

Background: Advances in DNA sequencing have made gene testing fast and affordable, but adaptation of clinical services to capitalise on this for patient benefit has been slow. Ovarian cancer exemplifies limitations of current systems and potential benefits of increased gene testing. Approximately 15% of ovarian cancer patients have a germline mutation in BRCA1 or BRCA2 (collectively termed ‘BRCA’) and this has substantial implications for their personal management and that of their relatives. However, in most countries implementation of BRCA testing in ovarian cancer has been inconsistent and largely unsuccessful.

Methods: We developed a mainstream pathway in which BRCA testing was undertaken by cancer team members after 30 minutes online training. Patients with a mutation were sent a genetic appointment with their results. Cascade testing to relatives was performed via standard clinical genetic procedures.

Findings: 207 women with ovarian cancer were offered gene testing through the mainstream pathway and all accepted. 33 (16%) had a BRCA mutation. The result informed management of 79% (121/154) women with active disease including 97% (32/33) women with a mutation. All mutation-positive women and ~3.5 relatives per family have been seen in genetics. Patient and clinician feedback was very positive. >95% found the pathway to be simple and effective. The pathway offers considerable reduction in time (~5-fold) and resource requirements (~13-fold) compared to the traditional genetic pathway. We estimate it would deliver £2.6M NHS cost savings per year, and would allow implementation of national testing recommendations with existing infrastructure.

Interpretation: Mainstream genetic testing is effective, efficient and patient-centred and offers a mechanism for large-scale implementation of BRCA gene testing in cancer patients. The principles could be applied in many other countries and to many other areas of genomic medicine.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
Back to top
PreviousNext
Posted March 16, 2016.
Download PDF

Supplementary Material

Email

Thank you for your interest in spreading the word about bioRxiv.

NOTE: Your email address is requested solely to identify you as the sender of this article.

Enter multiple addresses on separate lines or separate them with commas.
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients
(Your Name) has forwarded a page to you from bioRxiv
(Your Name) thought you would like to see this page from the bioRxiv website.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Share
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients
Angela George, Daniel Riddell, Sheila Seal, Sabrina Talukdar, Shazia Mahamdallie, Elise Ruark, Victoria Cloke, Ingrid Slade, Zoe Kemp, Martin Gore, Ann Strydom, Susana Banerjee, Helen Hanson, Nazneen Rahman, for the Mainstreaming Cancer Genetics (MCG) Programme
bioRxiv 044024; doi: https://doi.org/10.1101/044024
Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
Citation Tools
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients
Angela George, Daniel Riddell, Sheila Seal, Sabrina Talukdar, Shazia Mahamdallie, Elise Ruark, Victoria Cloke, Ingrid Slade, Zoe Kemp, Martin Gore, Ann Strydom, Susana Banerjee, Helen Hanson, Nazneen Rahman, for the Mainstreaming Cancer Genetics (MCG) Programme
bioRxiv 044024; doi: https://doi.org/10.1101/044024

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Subject Area

  • Genetics
Subject Areas
All Articles
  • Animal Behavior and Cognition (2440)
  • Biochemistry (4803)
  • Bioengineering (3340)
  • Bioinformatics (14724)
  • Biophysics (6658)
  • Cancer Biology (5188)
  • Cell Biology (7455)
  • Clinical Trials (138)
  • Developmental Biology (4378)
  • Ecology (6904)
  • Epidemiology (2057)
  • Evolutionary Biology (9943)
  • Genetics (7357)
  • Genomics (9550)
  • Immunology (4583)
  • Microbiology (12730)
  • Molecular Biology (4960)
  • Neuroscience (28422)
  • Paleontology (199)
  • Pathology (810)
  • Pharmacology and Toxicology (1400)
  • Physiology (2031)
  • Plant Biology (4521)
  • Scientific Communication and Education (980)
  • Synthetic Biology (1305)
  • Systems Biology (3922)
  • Zoology (731)