Updated: May 11
On Friday 7 February we welcomed program staff, investigators and collaborators to London for our Annual Pan Program meeting. Here we introduce a key theme from the meeting and share what each of our speakers presented on.
Variants and Risk - Resources for Clinical Laboratories
Some of the genetic data from UK labs (discussed in our previous session) is already being utilised within CGCV to help interpretation of cancer genetic variants. Over the next session, Clinical Scientist, Miranda Durkie (Sheffield Teaching Hospitals NHS Trust) and researchers from the Institute of Cancer Research shared the challenges around variant interpretation and introduced the resources helping to overcome these.
Miranda very cleverly built the picture of variant interpretation being like a puzzle, with clinical scientists having to piece together information from a variety of sources in order to establish whether a single variant identified in a patient is cancer causing (pathogenic) or not (benign). However, much of the evidence needed to build a full picture is not always available and, despite the development of guidelines by the American College of Medical Genetics, there is still considerable disparity in interpretation of variants. Therefore, more work is required to build better evidence bases to ensure that there is consensus across the clinical genetics community and consistent management of individuals/families with cancer genetic variants.
The UK Cancer Variant Interpretation Group (CanVIG) has been established in response to this need and CGCV Clinical Fellow, Dr Alice Garrett, gave an overview of the aims and outputs of this group. A multidisciplinary network with more than 100 members from across the UK that meet on a monthly basis through teleconference to discuss cancer genetic variants and establish a UK-wide consensus classification for each variant discussed.
CanVIG share their consensus classifications with wider communities through platforms such as ClinVAR and a CGCV developed platform, CanVAR.
Bioinformatician, Cankut Cubuk, gave a demonstration of the platform that pulls together information from a variety of resources at individual variant level and links to external sources. Accessible by members and non-members alike, CanVAR is already being utilised by UK clinical laboratories to aid interpretation of variants.