Completed Pregnancy, Children & Inherited Conditions Genetics & Molecular Biology

Using Genetics in Mainstream Medicine to Deliver Personalised Care for Cancer Patients.

Funder Wellcome Charity-funded
Recipient organisation Institute of Cancer Research
Funding £2.7M
Period Oct 2012 — Mar 2018

In plain English

AI plain-English summary

Hundreds of women with ovarian or breast cancer are currently denied NHS genetic testing for BRCA genes, even though knowing their genetic status could guide their treatment. The problem is that existing testing methods are expensive and laborious, so the NHS restricts access to only a handful of cancer predisposition genes. More than half of known cancer-related genes are never tested at all. This means patients miss out on personalised care—such as targeted therapies or preventive surgeries—that could improve their outcomes. The researchers are building a next-generation sequencing test called the CaPS panel, which will analyse all germline genetic variants relevant to cancer in a single, cheaper assay. They are also developing the analytical and clinical infrastructure needed to roll it out through mainstream NHS medicine. If successful, the CaPS panel could transform cancer genetics from a restricted, specialist service into a routine part of cancer care. More patients would learn their genetic risks and receive treatments tailored to their specific mutations, without the current lottery of eligibility.

View original technical description
Knowledge of the germline genetic variants associated with cancer causation and treatment has considerable clinical impact and is increasingly essential for the optimal management of people with cancer. However, currently, cancer gene testing is severely restricted; there is no NHS gene test for over 50% of known cancer predisposition genes and there are tight restrictions on access to gene testing. For example, hundreds of women with ovarian and/or breast cancer are not eligible for NHS testing of BRCA genes, despite their proven benefit in cancer management. The current restrictions are due to the expensive, laborious testing methods employed. Next-generation sequencing offers a solution as it will allow screening of many more genetic variants in many more people, at much lower cost. We will develop a next-generation sequencing assay (the CaPS panel) that analyses all germline genetic variants of relevance to cancer. We will also develop the necessary analytical and clinical infrastr ucture required for its NHS implementation through mainstream medicine. The availability of CaPS panel testing will rapidly increase the number of people able to benefit from cancer gene testing.

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Researchers

Nazneen Rahman (EPMC Awardee)

Related Research

Grants with similar aims, by meaning.

Direct to Patient Testing at Cancer Diagnosis for Precision Prevention-2
Breast Cancer Risk after Diagnostic Gene Sequencing (BRIDGES)
Precision Medicine in the prostate cancer care pathway: an evaluation of integrating germline genetic testing into the management of men at risk of / living with prostate cancer.
Novel approaches to integrate medical genomic data with extensive local electronic healthcare data: improving diagnostic rates and patient health through targeted treatment.
CANGENE-CANVAR: data resources, clinical and educational tools to leverage cancer susceptibility genetics for prevention and early detection of cancer

Original classification

Strategic Award - Science

Plain English summaries and category classifications on this site are generated by AI and may not perfectly reflect the original research.