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Biesecker and Green developed a primer for clinicians on how to approach clinical genome and exome sequencing (CGES). The comprehensive summary provides a technical overview and discussion of limitations of CGES, summarizes indications for ordering and evaluation, interpretation and communication of results, and how to address incidental findings. Additionally there is an interactive graphic overviewing the technology and providing guidance to providers in clinical context.

Biesecker LG and Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med 2014; 370(25):2418-25. doi: 10.1056/NEJMra1312543.

Have you been looking for concise, up-to-date, evidence-based information sheets on genetic disorders, technologies or other current genomic topics? Ones that are written for healthcare providers? Ones that may have an accompanying point of care tool?

Look no further! The GEC-KO on the runcollection is written by a genetic counsellor with input from a geneticist and family physician. They are evidence-based and referenced, and feature a ‘Bottom line’ with recommendations. They were developed as a ‘spin-off’ of the successful Gene Messengers which were part of the GenetiKit project. Findings from this study were published and can be found in Carroll JC, Wilson BJ, Allanson J, Grimshaw J, Blaine SM, Meschino WS, Permaul JA, Graham ID. GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians. Fam Pract 2011; 28(6): 615-23.

A recent commentary in Genetics in Medicine (Haga et al., 2014) highlighted a barrier for primary care use of genomic services – access. Do you know that many Canadian genetics centres have a genetic counsellor or geneticist on-call? Often part of this role is to answer questions from other clinicians and the community about genetics. You can connect with your local genetics specialist who is happy to answer your questions about appropriate referrals or genetic testing. Click here to find your local centre and connect with your local specialist.

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Latest News

The GEC-KO team will be presenting at the 2021 University of Ottawa’s Annual Refresher Course

Have some questions about how Canada’s genetic non-discrimination act works and what it means for your practice?

Check out this 2022 article in Canadian Family Physician

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