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RiffReporter der Woche: Deutschland startet neue Gendiagnostik Zum Inhalt springen Filter
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Riffreporter diese Woche: Deutschland startet neue Gendiagnostik
Wissenschaftsjournalist Rainer Kurlemann Liebe Leserinnen, liebe Leser, viele neue Verordnungen tragen schreckliche Namen. Das können wir JournalistInnen nicht ändern. Deshalb vorweg meine Bitte: Lesen Sie weiter, auch wenn es im heutigen Newsletter um das Modellvorhaben Genomsequenzierung geht. Hinter dem sperrigen Begriff steckt die deutschlandweite Einführung eines Gentests, der das komplette Erbgut des Menschen in eine Computerdatei übersetzt. Die Daten sollen den Millionen Menschen helfen, die mit einem Gendefekt leben, der eine seltene Erkrankung oder Tumore auslösen kann.
In dieser Woche ist das wichtig, weil … … viele Erkrankungen durch eine einzige Veränderung in den Genen ausgelöst werden. Das ist gar nicht so selten, wie Sie vielleicht glauben mögen. Die Bezeichnung dieser Gendefekte als „seltene Erkrankung“ führt in die Irre: Jede einzelne Erkrankung kommt zwar selten vor, aber es gibt so viele davon, dass in der Summe zum Beispiel in Deutschland vier Millionen Menschen betroffen sind.
Hinzu kommen zehntausende Familien, die damit leben müssen, dass in ihrer engsten Verwandtschaft Krebserkrankungen besonders häufig vorkommen, weil sie vererbt werden können. Das Modellvorhaben Genomsequenzierung wurde für diese Menschen geschaffen. Dahinter steht ein großes Netzwerk von Uni-Kliniken und Forschungseinrichtungen, koordiniert durch das Bundesinstitut für Arzneimittel und Medizinprodukte (BfArM). Es soll den Betroffenen den Zugang zu besserer Diagnostik und wirksamen Therapien erleichtern.
Warum wir uns dafür interessieren müssen Gendiagnostik hat in Deutschland häufig noch immer ein schlechtes Ansehen. Das liegt sicher auch an den schrecklichen Taten in der NS-Zeit: Ein diktatorisches Regime wollte Menschen anhand ihrer familiären Herkunft in gut oder schlecht einteilen.
Die moderne Gendiagnostik hat damit überhaupt nichts zu tun. Ganz im Gegenteil: Die Forschung am menschlichen Erbgut zeigt eindrucksvoll, was die Entwicklung der Menschheit seit Jahrtausenden prägt und vorangetrieben hat: Es ist die Migration. Die ständige Migration des Menschen hat zu einer weltweiten Durchmischung des menschlichen Erbguts geführt. Das mag in der heutigen Zeit nicht allen gefallen, aber es ist eine der Botschaften der Genomforschung: Die Migration ist ebenso tief im Menschen verwurzelt wie seine eigene Individualität.
Was mich dabei persönlich beschäftigt Die meisten Menschen, die an einer seltenen Erkrankung leiden oder bei denen sich familiärer Krebs häuft, freuen sich über die neuen Möglichkeiten der Analytik. Ich erinnere mich an Interviews mit der inzwischen verstorbenen Wissenschaftlerin Jeanette Erdmann. Sie erforschte den Einfluss der Gene auf Herz-Kreislauf-Erkrankungen. Gleichzeitig war Erdmann selbst von einem seltenen Gendefekt betroffen. Eine angeborene Muskelerkrankung beeinträchtigte ihr Leben.
„45 Jahre lang gab es keine eindeutige Diagnose“, erzählte sie mir. Dann bezahlte sie die vollständige Entzifferung ihres Genoms aus eigener Tasche und nutzte (für die Interpretation des Ergebnisses) ihr eigenes Wissen über Gene. Die Diagnose habe viel verändert. „Endlich kann man verstehen, was mit einem vorgeht, was im eigenen Körper passiert“, sagte sie. Jeanette Erdmann konnte Kontakt aufnehmen zu anderen Menschen mit der gleichen seltenen Erkrankung. „Ohne Diagnose ist man allein“ , sagte sie.
Mit dem Modellvorhaben Genomsequenzierung eröffnet sich für alle Betroffenen die Chance auf eine bessere Diagnostik . Das geschieht natürlich freiwillig. Wer nichts wissen will, kann die Genomanalyse ablehnen.
Was als Nächstes passieren muss Jeanette Erdmann hat mit drei Kollegen vor ein paar Jahren eine Initiative gestartet, die auf das Problem der unzureichenden Gendiagnostik aufmerksam machen wollte. Ich habe für RiffReporter im Februar 2019 darüber berichtet. Die Initiative der Forschenden hatte Erfolg.
Viele meiner Kolleginnen und Kollegen bei RiffReporter sehen es als ihre Aufgabe, regelmäßig über die Themen zu berichten, die in der aktuellen Nachrichtenflut übersehen werden oder untergehen. Nur wer gut informiert ist, kann eine Haltung zu Entscheidungen entwickeln, die vielleicht erst in der Zukunft von Bedeutung sein werden. In der Gendiagnostik wird beispielsweise darüber diskutiert, ob man das Erbgut aller Neugeborenen zukünftig auf Krankheiten hin untersuchen sollte.
Es grüßt Sie herzlich
Rainer Kurlemann
Mehr zum Autor Rainer Kurlemann schreibt für uns über Wissenschaftsthemen und ihre Auswirkung auf die Gesellschaft. Seine Schwerpunkte sind Genetik und Biowissenschaften.
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