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This article is about interpreting unexpected results from whole genome testing.

In a Genetic Counselling consultation, it could be easy to get immediately caught up in the significance of the BRCA2 result.

This result is unexpected and therefore could be causing a large amount of anxiety for Beata and Roman. Of course, the way the Genetic Counsellor manages the clinic will depend on how Beata and Roman react to the news and what they want to know. In this case a Genetic Counsellor might decide to outline first what the results of the micro-array mean in terms of the reason Tomek was referred (i.e. his developmental delay). As this does not explain his developmental delay, the Genetic Counsellor could then explain that there could still be a genetic/inherited cause for Tomek’s learning disability that could be explored using other tests, such as whole genome sequencing.

The Genetic Counsellor could then move on to the significance of the BRCA2 result, explaining that this has implications for Tomek in the future but doesn’t affect his health now, as a child. They could explain that there are three possibilities for this result: Tomek could have inherited it from Mum, Dad, or this could be a variation that has arisen for the first time in Tomek (i.e. a “de novo” variation). As such Beata and Roman could have genetic testing to see if either of them carry the same alteration in BRCA2.

At this point, as a Genetic Counsellor, you would want to explore with Beata and Roman if there is any history of cancer in either side of their family. When you ask this they tell you that there is very little cancer on Roman’s side of the family. Beata comes from quite a small family; she was an only child, as was her mother. Her father only had one brother and she has no cousins.

You decide to make the following plan: you offer Beata and Roman predictive genetic testing for the alteration in BRCA2. You make a referral for them to see a consultant clinical geneticist who can review Tomek to see if there is any further genetic testing that would be appropriate. You arrange another appointment in 2 months’ time when you can see Roman and Beata to discuss the results of their predictive genetic test for BRCA2.

© Wellcome Genome Campus Advanced Courses and Scientific Conferences
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What is Genetic Counselling?

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