Die demokratische Revolution in der Biomedizin

SEATTLE – Sehr bald wird es wirtschaftlich machbar sein, in der medizinischen Praxis standardmäßig menschliche Genome zu sequenzieren und enorme Mengen an unterschiedlichen Gesundheitsdaten zu sammeln. Schon jetzt gibt es bemerkenswerte Beispiele, wie diese genetischen Daten unser Denken im Hinblick auf  Krankheit und Diagnose verändern.

Man erinnere sich an die 1996 im kalifornischen San Diego geborenen Zwillinge der Familie Beery. Die beiden litten an chronischem Erbrechen, Krampfanfällen sowie Muskelschwäche und standen gemeinsam mit ihren Eltern am Anfang einer Odyssee aus medizinischen Untersuchungen und Tests. Die erste Diagnose lautete zerebrale Kinderlähmung. Später wurde Dystonie, eine seltene neurologische Erkrankung, festgestellt. Doch mit der Behandlung auf Grundlage der Diagnosen konnten die Symptome der Kinder nicht gelindert werden.

Enttäuscht ließen die Eltern die Genome der Zwillinge sequenzieren. Die Ergebnisse zeigten, dass die vorherigen Diagnosen der Zwillinge unvollständig waren. Ihre zuvor festgestellte Dystonie wurde durch eine genetische Mutation ausgelöst, die den Neurotransmitter Serotonin beeinträchtigt. Die Ärzte der Zwillinge fanden heraus, dass die Dystonie mit einem leicht verfügbaren Serotonin-Ersatz gut behandelt werden konnte.

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