Ann Lab Med 2023; 43(1): 3-4

Published online January 1, 2023

Copyright © Korean Society for Laboratory Medicine.

Cost-effective BRCA Testing in Advanced Ovarian Cancer

Myungshin Kim, M.D., Ph.D.1,2

1Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea; 2Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea

Correspondence to: Myungshin Kim, M.D., Ph.D.
Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Korea
Tel: +82-2-2258-1645, Fax: +82-2-2258-1719

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Ovarian cancer is the most aggressive gynecological cancer worldwide [1]. Because of the deficiency in early detection procedures and rapid progression of the disease, more than 70% of ovarian cancer patients are only diagnosed at an advanced stage. In Korea, the incidence of ovarian cancer has gradually increased, partly due to the westernization of lifestyle and changes in reproductive factors, including early menarche, late menopause, delay in marriage, lower fertility rate in life, and changes in infant feeding patterns [2, 3]. Ovarian cancer is the most common cause of gynecological cancer-related deaths in Korea [4]. Despite advances in treatment over the past few decades, the 5-year survival rate remains below 40% [5]. Most recently, targeted agents, such as poly (ADP-ribose) polymerase (PARP) inhibitors, have driven improvement. PARP inhibitors were the first approved cancer drugs to specifically target the DNA damage response in BRCA1/2-mutated breast and ovarian cancers [6]. Since their introduction, the significance of BRCA mutations, not only for identifying hereditary breast and ovarian cancer syndromes but also for selecting patients suitable for targeted cancer therapy, has been greatly emphasized [7, 8].

Two types of samples can be used for BRCA testing: germline and somatic samples. Germline BRCA mutations are analyzed in peripheral blood samples, whereas somatic mutations are detected in tumor samples. In comparison with the analysis of DNA isolated from blood samples, testing DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue is challenging because various factors, such as FFPE age, DNA fragmentation, and deamination, can reduce specimen integrity [9, 10]. Although BRCA testing using both samples is beneficial for ovarian cancer patients, because of the limited resources, it is desirable to develop an optimal BRCA testing strategy based on economic evaluation.

This issue was addressed in a recent study by Jang, et al. [11]. They assessed the cost-effectiveness of BRCA testing strategies followed by PARP inhibitor maintenance therapy based on the National Health Insurance system in Korea. They evaluated five BRCA testing strategies: (1) germline testing first, followed by somatic tumor testing for patients without germline mutations; (2) somatic testing first, followed by germline testing for patients with mutations detected by somatic testing; (3) both germline and somatic testing; (4) germline testing alone; and (5) somatic testing alone. By analyzing the incremental cost-effectiveness ratio, the authors found that all five strategies were cost-effective. Strategy 4 was the most cost-effective option, with an incremental cost-effectiveness ratio, followed by strategy 1. They concluded that germline testing first, followed by somatic testing, may be a reasonable BRCA testing option for Korean patients with advanced ovarian cancer. This study provides important and valuable information for clinicians, clinical laboratories, and the government to consider and plan BRCA testing strategies for advanced ovarian cancer in the targeted cancer therapy era.

Kim M accepts responsibility for the content of this manuscript and approved its submission.

No potential conflicts of interest relevant to this paper were reported.

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