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Access to genetic testing and the role of effective genetic counselling

Although it is widely accepted that genetic testing is an important tool to aid early diagnosis in some patient cohorts, studies have shown that substantial numbers of eligible patients are not being tested. Making genetic testing ‘mainstream’ by incorporating germline genetic testing into routine cancer care via non-genetic healthcare professionals (HCP) has shown to significantly increase uptake. For example, mainstream genetic testing initiatives for women with Epithelial ovarian cancer (EOC) have been successfully implemented in several countries, with positive experiences among patients and HCPs (Bokkers et al., 2022).

Ovarian cancer is the fifth most common cause of cancer death for women in the UK. Up to 18% of cases can be attributed to germline mutations in BRCA1 and BRCA2 genes. Identifying patients who carry a BRCA mutation provides important information about potential response to treatment and eligibility for therapies such as poly ADP ribose polymerase (PARP) inhibitors. Implementation of systematic genetic testing of patients with ovarian cancer via oncology clinics (mainstreamed genetic testing, MGT) is increasing to improve patient outcomes.

Studies have shown that offering training in genetic counselling to health care professionals can greatly increase the volume of mainstream genetic testing and therefore improve patient outcomes.

In an in-depth study, HCPs were asked before undertaking the training module what their main reasons were for not ordering genetic testing. The most common reason given by health care professionals for not discussing a genetic test was that they had forgotten to do so. Some felt that it might be too time-consuming and some felt that they did not have sufficient experience and tools to discuss genetic testing. After completing the training module, all of the HCPs remembered to discuss and also felt capable of discussing genetic testing. This study showed that given appropriate training, the number of genetic tests ordered can be increased thus increasing the chances of positive patient outcomes.

At Edinburgh Genetics, we offer healthcare and consumer testing providers customised direct-to-patient and direct-to-consumer sequencing solutions, from our range of egSEQ standard and customised panels to full bioinformatics solutions and reporting with customised training plans for training non-genetic trained professionals to promote the use of genetic testing with optimised processes for ordering genetic testing. Get in touch with us today to discuss your needs and find out how we can support you.

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Tarno, H., Qi, H., Endoh, R., Kobayashi, M., Goto, H., & Futai, K. (2011). Types of frass produced by the ambrosia beetle Platypus quercivorus during gallery construction, and host suitability of five tree species for the beetle. Journal of Forest Research, 16(1), 68-75.


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