Genetic testing and counseling among patients with newly diagnosed breast cancer
Menée aux Etats-Unis à partir d'une enquête auprès de 2 529 patientes atteintes d'un cancer du sein de stade 0 à II diagnostiqué entre 2013 et 2014 (âge moyen : 62 ans), cette étude évalue la proportion de patientes ayant bénéficié d'un test de recherche des mutations BRCA et analyse les raisons expliquant que certaines d'entre elles n'ont pas pu bénéficier de ce test
Germline genetic testing of patients with breast cancer is an important model of how increasingly widespread genomic sequencing can influence treatment decision making. Testing of 2 breast cancer–associated genes, BRCA1 and BRCA2, has been available for 20 years, but new massively parallel sequencing technology and less restrictive patent laws have made multiplex panel tests available at much lower costs.1 Yet little is known about recent patient experience with genetic testing and counseling. Genetic counselors are experts in risk assessment and communication, but because of workforce limitations, some physicians must counsel and test patients without their assistance.2 These challenges motivated this investigation of patients’ use of and perspectives on genetic counseling and testing.
JAMA , résumé, 2016