(Continued from Part 1)
Q: What role does genetic testing technology play in the diagnosis, treatment, and prognosis of breast cancer? How widespread is this technology currently?
Shao Kang: Genetic testing technology is widely applied in breast cancer, from prevention to diagnosis, treatment, and prognosis.
In terms of prevention, genetic testing for susceptibility genes is crucial. The main susceptibility genes for breast cancer are BRCA1 and BRCA2, along with around 20 other less common genes. The cost of testing and analysis is relatively low. For women with a family history of breast cancer, genetic testing can determine if they carry susceptibility genes. If they do, they should follow screening strategies according to guidelines.
Many genetic testing companies offer these services. For example, BGI Group offers SeqBRCA™-Breast Cancer and Ovarian Cancer Susceptibility Genes BRCA1/2 Genetic Risk Assessment, as well as BGI SENTIS™ Hereditary Cancer Screening for early detection of breast cancer and other cancer types.
In diagnosis, genetic testing is essential for molecular subtyping. Currently, breast cancer is categorized into Luminal A, Luminal B, HER2, and Triple-negative breast cancer, each requiring different treatment approaches. In China, the primary methods currently employed for this purpose are immunohistochemistry and immunofluorescence in situ hybridization (FISH) to conduct tests on three specific molecules. Internationally, more detailed multi-gene tests like PAM50 are utilized for classification. Chinese hospitals and research institutions are also advancing the application of relevant tests.
In treatment, genetic testing is crucial for targeted therapy. For instance, HER2-targeted therapies require ERBB2 gene testing. Another approach involves the use of PARP inhibitors, such as Olaparib, and before their use, testing for at least BRCA1 and BRCA2 is necessary. In some cases, a series of genes involved in homologous recombination repair pathways also need to be tested. The development and approval of relevant testing products are advancing as we speak.
Q: What recent developments in breast cancer research should be noted in the domestic and international fields?
Li Guibo: Recent significant developments in breast cancer research are primarily related to treatment. As mentioned earlier, the application of PARP inhibitors in breast cancer is expanding, and the associated testing technology for targeted gene is also evolving. Additionally, research into monitoring breast cancer recurrence and drug resistance using circulating free DNA (cfDNA) is progressing, with large-scale clinical trials underway.
Studies of the tumor immune microenvironment in breast cancer are also worth noting. For example, immune checkpoint inhibitors have shown promise in activating CD8-positive T cells through interleukin induction to target and kill tumor cells. Research shows that the intratumoral microorganisms in triple-negative breast cancer, such as spore-forming bacteria, may activate anti-tumor immunity through metabolic products. Clinical trials for new therapies based on the tumor immune microenvironment are actively being conducted.
In the field of breast cancer multi-omics research, the integration of metabolomics, radiomics, and spatial omics is expanding the dimensions of research and has yielded numerous findings. Artificial intelligence has also been applied to breast cancer early screening models, diagnostic grading, treatment response prediction, and more.
Q: What advantages does BGI Group possess in breast cancer research, and what important progress has BGI Group made in research and clinical applications in this field? What international collaborations have been established, and what role have these collaborations played in advancing breast cancer research and improving treatment?
Shao Kang: BGI Group has been deeply involved in breast cancer research, leveraging its strengths in sequencing platforms and research tools. BGI had already begun conducting research and promoting the application demonstration of breast cancer susceptibility gene screening years ago. BGI has also collaborated with global agencies to advance the standardization of testing and interpreting the BRCA1 and BRAC2 susceptibility genes, contributing to the development in this field.
In addition, BGI's single-cell and spatial multi-omics technology provides a powerful tool for breast cancer research. BGI has published over 40 articles in the field of breast cancer research, with a cumulative impact factor exceeding 270. BGI has collaborated on numerous research projects with medical institutions in China, as well as in North America, South America, and European countries. Together, we have been working to advance the development of early breast cancer screening strategies and elucidating the process and characteristics of breast cancer drug resistance.
Q: From an international cooperation perspective, how can we further promote innovation and development in breast cancer research and treatment?
Li Guibo: From an international cooperation perspective, we can fully leverage the strengths of experienced Chinese medical professionals and complement the efforts of international partners. On one hand, we can collaborate with excellent research institutions in developed countries, learning from their advanced methods and concepts. On the other hand, we can cooperate with less developed regions to promote their healthcare and research.
Researchers have their own areas of expertise and research preferences. Collaborators should leverage their strengths, grow together, and promote their research capabilities and breast cancer research as a whole.
International cooperation can be instrumental in advancing research and improving breast cancer treatment.