Genetic testing and counseling challenges in personalized breast cancer care: review article with insights from Türkiye

Plain Language Summary

According to current evidence, testing for germline BRCA pathogenic variants in newly diagnosed breast cancer (BC) patients has the potential to reduce the burden of the disease through targeted therapies and secondary prevention. A personalized approach to testing can lead to improved individual outcomes for patients. Despite the proven clinical utility and therapeutic impact of BRCA1/2 tests in shaping therapy for metastatic BC, awareness and access to these tests are limited in many developing countries, including Türkiye. This limitation impacts the healthcare economy as delayed or missed interventions can lead to increased long-term costs. The limited access is mainly due to fear of stigmatization among patients, country-specific legislation and costs, a lack of awareness, vagueness surrounding the tests and access restrictions. This review offers a perspective for policymakers and healthcare providers in Türkiye to establish pathways that integrate the patient experience into comprehensive care pathways and national cancer control plans.

Plain language summary – Importance of gene testing for breast cancer patients

Recent studies show that testing for a specific gene change in people newly diagnosed with breast cancer can help reduce the impact the disease has on their life as they can be given special treatments. When tests are tailored to each person, they can get better results. However, in many countries, including Türkiye, not many people know about or can get these tests. This is because of concerns about being judged, rules in the country, the cost, confusion about the tests and limited access. Not having these tests can make healthcare more expensive in the long run. This article suggests ways for Türkiye’s leaders and health workers to make these tests a regular part of cancer care and planning.

Tweetable abstract

Gene testing in new breast cancer patients can reduce disease impact with tailored treatments. Yet, many in countries like Türkiye lack access due to various barriers. Let’s integrate these tests into national care plans! #BreastCancer #GeneTesting

Keywords: :

• BRCA pathogenic variant
• breast cancer
• genetic testing
• healthcare economy
• improved individual outcomes
• personal approach

Author contributions

I Cicin made contributions to the design of the work, all authors provided input and revised and approved the final manuscript.

Financial disclosure

This study was sponsored by Pfizer. B Aver and OF Ozturk Saglam are employees of Pfizer. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Competing interests disclosure

The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Writing disclosure

Medical writing was supported by AO Yilmaz and F Kiziltas at Remedium Consulting Group and which was funded by Pfizer. Project and author coordination support including submission assistance was provided by Ferda Kiziltas at Remedium Consulting Group and funded by Pfizer.

Open access

This work is licensed under the Attribution-NonCommercial-NoDerivatives 4.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/