Breast most cancers (BC) is now the most typical most cancers and the fifth main explanation for cancer-associated mortality amongst ladies in China1. Germline pathogenic variants (PVs) of BC susceptibility genes, such because the well-known BRCA1/2 genes, enhance the danger of BC and different cancers (ovarian and pancreatic most cancers)2,3. Latest research have demonstrated substantial advantages of poly (adenosine diphosphate ribose) polymerase inhibitors within the remedy of BC sufferers who carry BRCA1/2 PVs4.
Subsequently, genetic testing for BC susceptibility genes has change into a vital part of well being care and has implications for screening, most cancers prevention and therapeutic suggestions in people harboring PVs5. A greater understanding of attitudes in direction of genetic testing and components affecting utilization might affect medical apply.
The calls for of genetic testing have elevated worldwide because of the feasibility of recent gene sequencing methods and the improved efficacy of focused remedy. Earlier research have demonstrated a excessive stage of curiosity in genetic testing in Western international locations with 60%–90% of the inhabitants contemplating genetic testing6–8. Attitudes in direction of genetic testing varies primarily based on particular person traits. Particularly, people with the next traits have favorable attitudes in direction of genetic testing: youthful age; the next stage of genetic information with increased training; and better earnings7,8. Moreover, there are numerous motivations for genetic testing in numerous cultures, together with consciousness of a kid’s threat for most cancers, figuring out and decreasing one’s private most cancers threat, detecting most cancers early, and serving to members of the family make higher well being choices7,9. Nonetheless, no printed research have described the attitudes in direction of genetic testing for BC susceptibility gene and the affect on prevention methods within the Chinese language inhabitants.
We carried out a potential survey examine to discover attitudes and the components influencing genetic testing for BC susceptibility genes, in addition to prevention technique decisions when Chinese language ladies carry PVs. We recruited ladies with or with out BC from the Division of Breast Surgical procedure at Peking College Worldwide Hospital between Could 2020 and March 2023. The workflow of affected person choice is proven in Figure S1. Individuals have been requested to finish a questionnaire on sociodemographic traits, perspective in direction of genetic testing, and intention to implement prevention methods.
A complete of 781 hospital-based ladies participated on this survey, together with 516 (66.1%) ladies with BC and 265 (33.9%) with out BC. Among the many 516 members with BC, the median age was 51 years (vary, 22–87 years). Most members had a low month-to-month earnings and training stage. As well as, most girls have been married (97.5%) and had kids (91.3%), whereas 13.4% had a household historical past of BC. Among the many 265 members with out BC, the median age was 36 years (vary, 13–90 years). Most members with out BC had a excessive month-to-month earnings and training stage. Amongst ladies with out BC, 78.9% have been married and 63.8% had kids and 10.6% had a household historical past of BC. The participant traits are summarized in Table S1.
Attitudes in direction of genetic testing
General, 52.1% (n = 269) of the ladies with BC and 52.8% (n = 140) of the ladies with out BC had favorable attitudes in direction of genetic testing however solely 17.6% (n = 91) and 9.4% (n = 25) of girls with and with out BC underwent genetic testing, respectively. Apparently, the proportion of members who have been inclined to endure genetic testing elevated if testing was free [women with BC (76.4%) vs. women without BC (77.7%)]. As well as, 22.9% (n = 118) of the ladies with BC and 14.3% (n = 38) of girls with out BC had obtained a genetic session (Table S2).
Components influencing attitudes in direction of genetic testing
Youthful age (P = 0.003), increased month-to-month earnings (P P = 0.001), having business insurance coverage (P = 0.041), consciousness of genetic testing (P P P = 0.010) and consciousness of genetic testing (P = 0.024) remained favorable components in ladies with out BC (Table 1). Notably, a household historical past of BC had no vital affect within the two populations.
Components influencing attitudes in direction of genetic testing in ladies with or with out breast most cancers
Motivations and considerations for genetic testing
A excessive proportion (50.4%) of girls with BC cited ‘To know kids’s threat of inheriting PVs’ because the motivation for genetic testing, adopted by ‘To know the opportunity of customized precision remedy’ (28.3%). A minority of girls with BC selected ‘To know private threat of BC’ (11.8%) and ‘To know private risk-reducing prevention methods’ (9.5%) because the motivations for genetic testing (Figure S2A). In distinction, about one-third ladies with out BC (33.6%) cited ‘To know private threat of BC’ as the principle motivation for genetic testing. ‘To know kids’s threat of inheriting PVs’ was the motivation for genetic testing amongst 27.5% of people. Roughly 20% of girls with out BC every reported ‘To know private risk-reducing prevention methods’ and ‘To know the opportunity of customized precision remedy’ because the motivation for genetic testing (Figure S2A).
Furthermore, rising the psychological burden of 1’s kids (46.1% vs. 34.3%) and oneself (28.5% vs. 42.3%) have been the highest two considerations for genetic testing in ladies with and with out BC, respectively. Value, as an necessary potential issue, was the third main concern (10%–15%) for genetic testing. Few members fearful in regards to the affect on insurance coverage protection (3.1% vs. 5.7%) or thought of genetic testing to not be necessary (1.6% vs. 2.3%) in ladies with and with out BC (Figure S2B).
Decisions of prevention methods
Of ladies with BC after they have been susceptibility gene PV carriers, 30.8% (n = 357) meant to endure prophylactic mastectomy (Figure 1A). Moreover, most girls with out BC after they have been susceptibility gene PV carriers [53.2% (n = 141)] selected early detection, whereas fewer ladies thought of risk-reducing prevention methods with 24.9% (n = 66) selecting prophylactic mastectomy and 20.0% (n = 53) selecting chemoprevention. Just one.9% (n = 5) of the members selected to not make the most of a prevention technique (Figure 1B).
Individuals’ alternative of prevention methods after they carried breast most cancers susceptibility genes pathogenic variants amongst breast most cancers (A) and non-breast most cancers ladies (B). BC, breast most cancers.
This was the primary examine to evaluate attitudes in direction of genetic testing for BC susceptibility genes and the selection of preventive methods in Chinese language ladies with and with out BC. The present examine revealed that > 50% of Chinese language ladies with and with out BC have favorable attitudes in direction of genetic testing however solely 15% underwent genetic testing. The decrease intention and utilization of genetic testing for BC within the Chinese language inhabitants in comparison with Western populations could be attributable to regional and inhabitants variations.
Variations in motivations for genetic testing have been famous between ladies with and with out BC. Girls with BC have been extra involved about their kids’s well being, whereas ladies with out BC cared extra about their private most cancers threat, adopted carefully by their kids’s well being. It has been reported in different Asian populations that the main motivations for genetic testing in ladies with BC and girls who’re cancer-free have been to assist the household perceive the most cancers threat and to be taught what to do to cut back the person most cancers threat9.
There was a decrease proportion of girls [women with BC (30.8%) and women without BC (24.9%)] contemplating prophylactic mastectomy with a hypothetical susceptibility gene mutation within the present examine in comparison with different research. A examine reported that > 50% of wholesome younger Korean ladies have been inclined to endure risk-reducing mastectomy in the event that they have been BRCA1/2 mutation carriers10. One other examine discovered that 30% of younger ladies with BC indicated that their information or concern about genetic threat affected their surgical choices. Amongst these ladies, 86% of BRCA1/2 mutation carriers and 51% of non-carriers selected bilateral mastectomy6. Tradition variations and physique picture issues may make the speed decrease.
In abstract, we discovered that > 50% of Chinese language ladies have favorable perspective in direction of genetic testing. Almost one-third of girls with BC most popular to endure prophylactic mastectomy and girls with out BC who carry PVs have been extra more likely to choose early detection. The outcomes of the present examine will facilitate genetic counseling in Chinese language ladies.
Battle of curiosity assertion
No potential conflicts of curiosity are disclosed.
Creator contributions
Conceived and designed the evaluation: Yuntao Xie
Collected the information: Xue Yu, Furong Kou
Contributed information or evaluation instruments: Xue Yu, Furong Kou
Carried out the evaluation: Furong Kou
Wrote the paper: Furong Kou, Yuntao Xie.
Information availability assertion
The info generated on this examine can be found upon cheap request from the corresponding creator.
- Acquired November 21, 2024.
- Accepted January 2, 2025.
- Copyright: © 2025, The Authors
