Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

• Published in: Journal of community genetics Vol. 6; no. 3; pp. 275 - 283
• Main Authors: Ashton-Prolla, Patrícia, Goldim, José Roberto, Vairo, Filippo Pinto e, da Silveira Matte, Ursula, Sequeiros, Jorge
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.07.2015
• Subjects: Biomedical and Life Sciences; Biomedicine; Epidemiology; Gene Function; Gene Therapy; Human Genetics; Original; Original Article; Public Health; Informed consent; Genomic analysis; NGS; Genetic testing; Genetic counselling; Ethical issues

Despite significant advances in the diagnosis and treatment of genetic diseases in the last two decades, there is still a significant proportion where a causative mutation cannot be identified and a definitive genetic diagnosis remains elusive. New genome-wide or high-throughput multiple gene tests...