Genetic testing is often a question for the whole family. An individual’s test results may not only have an impact on them, but on their relatives too. Identifying a disease-causing genetic variant in a patient may make it possible to confirm a molecular diagnosis for blood relatives who are similarly affected, or even to identify family members at risk of developing disease. Family member testing can also be a game-changer when clarifying a variant of uncertain significance, sometimes leading to the reclassification of the variant and confirmation of a molecular diagnosis. But in exactly what situations is it valuable to test family members, who might you test, and what will the results actually mean?
In this webinar, Senior Geneticist Dr Kirsty Wells will talk through the different scenarios of when genetic testing for family members is potentially valuable. Case examples will be presented to illustrate how familial testing can make a crucial difference to the genetic testing outcome.
- Describe the situations when family member testing may be worthwhile if a disease-causing variant has been identified in the family, including for diagnostic, predictive, and carrier testing purposes
- Explain how segregation analysis to clarify a variant of uncertain significance is performed, and discuss which and how many family members to test
- Demonstrate the power of performing whole exome sequence analysis as a family duo or trio, to clinch the molecular diagnosis in one step
Kirsty Wells, PhD, is a Senior Geneticist at Blueprint Genetics, specializing in interpretation of ophthalmology panel and whole exome sequence data. She has a background in both research and diagnostics. Before joining Blueprint in 2018, Kirsty completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. Kirsty is a UK-certified Clinical Scientist.
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