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Risikoberechnungen in Familien

  • Chapter
Book cover Einführung in die Genetische Epidemiologie

Part of the book series: Statistik und ihre Anwendungen ((STATIST))

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In der genetischen Beratung fragen Mitglieder aus Familien nach dem Risiko füur das Auftreten einer Krankheit bei sich selbst oder bei zukünftigen Kindern, wenn in ihren Familien eine genetisch bedingte Krankheit vermutet wird. Falls bei einfachen monogenen Krankheiten eine Mutation im verantwortlichen Gen direkt nachgewiesen werden kann und aus dieser Mutation auch der Ausbruch der Krankheit folgt (vollständige Penetranz), sind klare Aussagen für jedes getestete Familienmitglied möglich. Bei unvollständiger Penetranz oder wenn keine molekulargenetische Untersuchung durchgeführt wurde, kann man nur eine unsichere Aussage in Form einer Krankheitswahrscheinlichkeit machen. Die Bestimmung dieser Wahrscheinlichkeit wird als Teil der genetischen Beratung aufgefasst (s. Exkurs 6, S. 293). In einfachen Situationen genügen Grundkenntnisse der Humangenetik zur Quantifizierung der Krankheitswahrscheinlichkeit. Schon bei wenigen verkomplizierenden Faktoren für monogene Krankheiten erfordern die Risikoschätzungen in der Regel umfangreiche Berechnungen. Dies ist der Fall, wenn

  • Ratsuchende mit den Kranken weitläufiger verwandt sind

  • Informationen über genetische Marker oder diagnostische Tests einbezogen werden müssen

  • Abweichungen vom klassischen Mendelschen Modell (s. Abschnitt 1.3.2) vorliegen.

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© 2007 Springer-Verlag Berlin Heidelberg

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(2007). Risikoberechnungen in Familien. In: Einführung in die Genetische Epidemiologie. Statistik und ihre Anwendungen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-33568-9_7

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  • DOI: https://doi.org/10.1007/978-3-540-33568-9_7

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-25616-8

  • Online ISBN: 978-3-540-33568-9

  • eBook Packages: Medicine (German Language)

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