Khái niệm về thông báo các phát hiện di truyền bổ sung trong chẩn đoán y khoa và nghiên cứu

E. Fisher1, S. Achilles1, H. Tönnies1, J. Schmidtke2
1Geschäftsstelle der Gendiagnostik-Kommission, Robert Koch-Institut Berlin, Berlin, Deutschland
2Institut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Deutschland

Tóm tắt

Phân tích gen toàn bộ với công nghệ giải trình tự gen cao thông lượng hiện đã đạt đến trình độ kỹ thuật cao và đang được xem xét như một phương pháp thay thế ít tốn kém hơn so với các phương pháp phân tích có mục tiêu khác trong chẩn đoán lâm sàng các bệnh di truyền. Mặt khác, trong các giải trình tự gen hoặc exom, có khả năng cao phát hiện được các phát hiện bổ sung không liên quan đến mục tiêu chính của nghiên cứu. Bài viết này cố gắng cung cấp cái nhìn tổng quan về tình trạng khoa học và kỹ thuật hiện tại của giải trình tự gen và exom cũng như các khuyến nghị quốc gia và quốc tế về việc xử lý các phát hiện di truyền bổ sung, những điều này chủ yếu đã có sẵn trong bối cảnh nghiên cứu và ít hơn trong bối cảnh lâm sàng.

Từ khóa

#giải trình tự gen #phát hiện di truyền bổ sung #chẩn đoán y khoa #nghiên cứu di truyền #khuyến nghị quốc tế

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