Achatz Maria Isabel, Caleffi Maira, Guindalini Rodrigo, Marques Renato Moretti, Nogueira-Rodrigues Angelica, Ashton-Prolla Patricia
Centro de Oncologia, Hospital Sírio-Libanês, São Paulo, Brazil.
Nucleo Mama Porto Alegre and Associação Hospitalar Moinhos de Vento, Porto Alegre, Brazil.
JCO Glob Oncol. 2020 Mar;6:439-452. doi: 10.1200/JGO.19.00170.
The objective of this review was to address the barriers limiting access to genetic cancer risk assessment and genetic testing for individuals with suspected hereditary breast and ovarian cancer (HBOC) through a review of the diagnosis and management steps of HBOC.
A selected panel of Brazilian experts in fields related to HBOC was provided with a series of relevant questions to address before the multiday conference. During this conference, each narrative was discussed and edited by the entire group, through numerous drafts and rounds of discussion, until a consensus was achieved.
The authors propose specific and realistic recommendations for improving access to early diagnosis, risk management, and cancer care of HBOC specific to Brazil. Moreover, in creating these recommendations, the authors strived to address all the barriers and impediments mentioned in this article.
There is a great need to expand hereditary cancer testing and counseling in Brazil, and changing current policies is essential to accomplishing this goal. Increased knowledge and awareness, together with regulatory actions to increase access to this technology, have the potential to improve patient care and prevention and treatment efforts for patients with cancer across the country.
本综述的目的是通过回顾遗传性乳腺癌和卵巢癌（HBOC）的诊断和管理步骤，探讨限制疑似HBOC患者获得遗传性癌症风险评估和基因检测的障碍。
在为期多天的会议之前，向一组选定的巴西HBOC相关领域专家提供了一系列相关问题以供解答。在会议期间，整个小组对每个叙述进行了讨论和编辑，经过多次草稿和多轮讨论，直至达成共识。
作者针对巴西的情况，就改善HBOC的早期诊断、风险管理和癌症护理的可及性提出了具体且切实可行的建议。此外，在制定这些建议时，作者努力解决本文提及的所有障碍和阻碍。
巴西迫切需要扩大遗传性癌症检测和咨询服务，改变现行政策对于实现这一目标至关重要。增加知识和提高认识，以及采取监管行动以增加获得这项技术的机会，有可能改善全国癌症患者的护理以及预防和治疗工作。
