Ovarian cancer and BRCA mutation genetic testing: the Brazilian reality

ABSTRACT

Introduction: Ovarian cancer (OC) is one of the leading causes of women's cancer deaths worldwide. Recent clinical trials with PARP inhibitors showed promising therapeutic opportunities for OC patients. The assessment of BRCA mutation is well established as relevant in the prevention, early diagnostic, and family counseling for OC, and recently BRCA gene mutation was associated as a prognosis for PARP inhibitors treatment. In this scenario, the assessment of the patient's mutation is proposed on Brazilian oncology guidelines and should be advised by health professionals that treat OC. Objectives: Inquire Brazilian oncologists about BRCA gene testing requesting time in the clinical practice for OC patients. Material and Methods: From May 2018 to June 2019, approximately 400 Brazilian oncologists received an online survey with questions related to the indication and challenges of BRCA gene testing. The survey was sent in 4 periods (waves); each wave received approximately 100 answers. Results: The compiled information showed that, on average, each oncologist treated 3 to 5 patients with ovarian cancer, they would recommend testing for three patients. Most respondents would indicate, BRCA testing during patients initial diagnostic period (w1=44%, w2=50%, w3=58%, and w4=64%). The sample of choice for testing would be blood/saliva assessing the germline mutational status (w1=35%, w2=43%, w3=46%, and w4=47%). The main reasons for oncologists to refrain from recommending BRCA testing were associated with cost and lack of reimbursement followed by lack of genetic counselors, among other factors. Conclusion: BRCA testing is restricted and not recommended for all ovarian cancer patients from the private health care sector. There is a lack of consensus on testing recommendations and discrepancies between coverage and national guidelines standardizing. There main difficulties associated with refraining testing were related to reimbursement and health plan coverage. Besides, the lack of genetic counseling was also pointed to as a bottleneck on oncologic patients' multidisciplinary treatment.

RESUMO

Introdução: O câncer de ovário (CO) é uma das principais causas de mortes por câncer de mulheres em todo o mundo. Ensaios clínicos recentes com inibidores de PARP mostraram oportunidades terapêuticas promissoras para pacientes com CO. A avaliação da mutação BRCA é bem estabelecida como relevante na prevenção, diagnóstico precoce e aconselhamento familiar para CO, e recentemente a mutação do gene BRCA foi associada como um prognóstico para o tratamento com inibidores de PARP. Nesse cenário, a avaliação da mutação do paciente é proposta nas diretrizes brasileiras de oncologia e deve ser orientada pelos profissionais de saúde que tratam da CO. Objetivos: Investigar oncologistas brasileiros sobre o teste do gene BRCA, questionando o momento da testagem na prática clinica para pacienets com CO. Material e Métodos: De maio de 2018 a junho de 2019, aproximadamente 400 oncologistas brasileiros receberam uma pesquisa online com perguntas relacionadas à indicação e desafios do teste do gene BRCA. A pesquisa foi enviada em 4 períodos (ondas); cada onda recebeu aproximadamente 100 respostas. Resultados: As informações compiladas mostraram que, em média, cada oncologista tratou de 3 a 5 pacientes com câncer de ovário, eles recomendariam o teste para três pacientes. A maioria dos entrevistados indicaria o teste BRCA durante o período inicial de diagnóstico dos pacientes (w1=44%, w2=50%, w3=58% e w4=64%). A amostra de escolha para teste seria sangue/saliva avaliando o status mutacional da linha germinativa (w1=35%, w2=43%, w3=46% e w4=47%). Os principais motivos pelos quais os oncologistas se abstiveram de recomendar o teste BRCA foram associados ao custo e à falta de reembolso, seguidos de falta de conselheiros genéticos, entre outros fatores. Conclusão: O teste BRCA é restrito e não recomendado para todas as pacientes com câncer de ovário do setor privado de saúde. Há uma falta de consenso sobre as recomendações de teste e discrepâncias entre a cobertura e a padronização das diretrizes nacionais. As principais dificuldades associadas ao teste de abstinência foram relacionadas ao reembolso e à cobertura do plano de saúde. Além disso, a falta de aconselhamento genético também foi apontada como um gargalo no tratamento multidisciplinar de pacientes oncológicos.

Keywords:

Medical oncology - Clinical medicine - Ovarian diseases - Genetic counseling - Genes - Practice guideline.

Descritores:

Oncologia médica - Medicina Clínica - Doenças ovarianas - Aconselhamento genético - Genes - Diretriz prática de genes.

CONFLICT OF INTEREST

DCO, LM, ALM, GC, AA work for AstraZeneca Brazil.

CONTRIBUTIONS

All authors approved the final manuscript version and organized the data, designed and analyzed the manuscript.

Ipsos do BRASIL conducted the survey. DCO was the medical writer.

Financial support: AstraZeneca Brazil supported this work. The authors ANR and AG did not receive any honoraria for participating in this research.

FUNDING

AstraZeneca Brazil supported this work. However, the authors ANR and AG did not receive any honoraria for participating in organization, design, data analysis, and manuscript review. During the development of this work, LM changed institution filiation as MBA in Economy and Health Technologies Assessment visiting professor at FIPE ( Fundação Instituto de Pesquisa ).

DECLARATIONS ETHICS APPROVAL

No institutional ethics approval was required.

Publikationsverlauf

Eingereicht: 08. März 2021

Angenommen: 23. Juli 2021

Artikel online veröffentlicht:
23. August 2021

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