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Greater need for pre-test genetic counselling, survey reveals

Researchers from Stanford University in America have conducted a survey on the experiences of those involved in genetic testing.

Researchers from Stanford University in America have conducted a survey on the experiences of those involved in genetic testing


Misapprehension and lack of knowledge have a negative affect on treatment choices in patients
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Misapprehension about genetic risk for breast cancer and genetic test results, in both surgeons and patients, may negatively affect the choice of appropriate treatment and management, suggesting a need for greater comprehension of such information.

In this American study, researchers from Stanford University conducted a survey of the experience of genetic testing in over 3,000 women diagnosed with breast cancer; data from 666 racially diverse tested patients were analysed. Similarly, a survey was undertaken of surgeons’ perception, position and confidence on the incorporation of genetic testing into their management and decision making processes.

Despite guidelines suggesting the need for pre-test genetic counselling, less than one fifth of all patients reported that a counsellor ordered their test. Approximately one quarter of surgeons referred patients to appropriate counselling; surgeons who saw the fewest number of patients, and were the least confident about conferring with the patient about testing, were the least likely to refer.

The paper reported a lack of knowledge among some surgeons about the difference between pathogenic mutation and negative results, or genetic variants of unknown significance, and how that should predicate management, particularly the discussion about and undertaking of bilateral mastectomy.


Kurian A W, Hamilton A S, Ward K C et al (2017) Gaps in incorporating germline genetic testing into treatment decision-making for early stage breast cancer. Journal of Clinical Oncology doi: 10.1200/JCO.2016.71.6480

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