Genetics and molecular biology · 2026
Toward the establishment of best practice guidelines for human research in Genomic Medicine in Brazil.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Ludwig Fernanda Sperb, Artigalás Osvaldo, Rodrigues Nureyev Ferreira, Prolla Patricia Ashton, Matte Ursula da Silveira, Saute Jonas Alex Morales
Аннотация
Many countries lack their guidelines for best practices in genomic medicine, whether for clinical practice or research. For the construction of these national guidelines or institutional policies in human genomics research several key criteria must be observed. The determination of variant pathogenicity has become more refined, with specific global recommendations being adopted. A well-conducted consent process, managed by qualified professionals, ensures the protection of research participants' rights. Pre-established sequencing and data analysis parameters are crucial for ensuring reliable results, and clear guidelines must be provided on whether or not to disclose findings to participants. Data storage remains a challenge due to both the size and sensitivity of the generated files. This work discusses these critical aspects and represents an initiative to propose the best practice recommendations for genomic medicine in human research. These recommendations were developed by a working group of experts and were further refined through discussions with members of the scientific community in genetics and genomic medicine.