In 2020, Huada gene oncology medical achievements show: 3 latest cancer detection technologies to help cancer prevention and control

< br / > < br / > < br / > on May 29, 2020, at the "panoramic sequencing cancer prevention and control -- 2020 Huada gene tumor technology research and conference" held by Shenzhen Huada gene Co., Ltd(hereinafter referred to as Huada gene, stock code: 300676SZ), Huada gene online released three cancer detection technologies: early detection technology of liver cancer based on rapid methylation targeted sequencing epiplextm, detection technology of homologous recombination defect (HRD) (GSA), customized monitoring technology of solid tumor patients (signatera), to help the panoramic prevention and control of tumor screening, diagnosis and monitoring< br / > < br / > Professor Zhou Jian, vice president of Zhongshan Hospital Affiliated to Fudan University, director of liver surgery, Professor Wu Xiaohua, director of gynecology department of Cancer Hospital Affiliated to Fudan University, MrWu Ming, chief physician of gynecology department of Peking Union Medical College Hospital, ProfPeng Junjie, chief physician of colorectal surgery department of Fudan University Cancer Hospital, DrZhu Shida, head of Huada gene tumor business department, DrWang Yuying, chief technical officer of Huada digital Biotechnology (Shenzhen) Co., Ltd., and DrWu Huizi, head of research and development technology of Huada gene tumor We also shared the research and clinical treatment progress of ovarian cancer, colorectal cancer and liver cancer at home and abroad, as well as the three latest cancer detection technologies of Huada geneXiang Fei, director of BGI's mass communication department, presided over the conference< br / >Cancer prevention is divided into three levelsThe first level is to prevent the cause of cancer, keep away from the risk factors of cancer and reduce the incidenceSecond level prevention is early detection and diagnosis of cancer; third level prevention is clinical standardized treatment and rehabilitation treatment to improve the prognosis and quality of life of cancer patientsDrZhu Shida said that Huada gene persisted in continuous exploration in basic research and clinical application of cancer, and continued to make efforts in the field of precise cancerThe three technologies released this time are to deal with early diagnosis, drug guidance, recurrence monitoring of cancer, and help the panoramic prevention and control of cancer < br / > According to statistics, about 370000 new liver cancer patients are added every year in China, accounting for about half of the world's new liver cancer patients (950000) [2] Liver cancer is a kind of occult cancer, the early clinical symptoms are not obvious, but the progress of the disease is rapid, the overall five-year survival rate is only 18% The screening and monitoring of the high-risk population of liver cancer is helpful for the early detection, diagnosis and treatment of liver cancer, and is the key to improve the treatment effect and survival rate of patients with liver cancer At present, the common clinical screening method for liver cancer is serum alpha fetoprotein (AFP) detection combined with liver ultrasound, which can effectively reduce the mortality of liver cancer to a certain extent, but the sensitivity and specificity for early liver cancer are not ideal (AFP detection sensitivity 25-65%, specificity 80-94%; ultrasound sensitivity 51-78%, specificity 80-100%) [3], It limits its application value in early screening and early diagnosis of liver cancer < br / > < br / > in recent years, the discovery of circulating tumor DNA (ctDNA) released to peripheral blood during tumor cell necrosis or apoptosis has provided a basis for the development of cancer liquid biopsy technology, and also provided a new idea and direction for early screening and diagnosis of cancer However, ctDNA signals are often submerged in the background of a large number of free DNA (cfdna) Therefore, the development of efficient new detection technology and the discovery of effective molecular markers are very important < br / >, The methylation status of liver cancer specific CpG site in blood free DNA was quantitatively detected by single base resolution At the meeting, Dr Wang Yuying, chief technical officer of Huada, disclosed the data of multicenter clinical trials, and the results showed that the sensitivity and specificity of the technology for the detection of early liver cancer reached 89.5% and 93.7% respectively Next, Huada digital will further expand the scale of clinical validation and plan to carry out prospective cohort study to evaluate the clinical application value of the technology < br / >, And the 5-year survival rate is less than 30%, so ovarian cancer has become one of the most lethal malignant tumors in women < br / > < br / > the precise targeted treatment of ovarian cancer starts late compared with other tumors, but with the advent of PARP inhibitors, it brings new hope to ovarian cancer patients In 2014, olapari, the first PARP inhibitor, was approved by FDA for use in patients with advanced ovarian cancer with BRCA gene mutation After that, several PARP inhibitors were approved and listed in succession, which greatly prolonged the platinum free interval of ovarian cancer patients, improved survival benefits, and led the ovarian cancer treatment into the era of precise maintenance treatment On May 11 this year, the FDA approved the combination of olapalin and bevacizumab for the first-line maintenance treatment of HRD positive people The development of PARP inhibitor biomarkers in ovarian cancer from BRCA gene to HRD is a qualitative leap, which means that the benefit population will expand from about 20% to more than 50% Dr Zhu Shida, head of cancer Business Department of Huada gene, mentioned that according to the currently recognized HRD detection method at home and abroad --- genetic scar method, Huada gene has designed a panel covering hundreds of thousands of single nucleotide polymorphism (SNP) sites based on the genetic polymorphism data of Chinese population, which can cover the whole genome, And independently developed GSA (genetic scar analysis) analysis process In this process, HRD score was calculated by assessing the loss of heterozygosity (LOH), telomeric allelic imbalance (TAI) and large scale state transitions (LST), and the defect status of homologous recombination was evaluated Dr Zhu Shida also mentioned that a crucial link in GSA technology is the correction of tumor purity and ploidy Because tumor cells are prone to chromosomal variation (i.e aneuploidy), this phenomenon can exist in tumor cells of multiple cancer types, which may be due to the mutation of genes related to mitosis in tumor cells, resulting in unequal separation of chromosomes, resulting in the detection of more CNV [4] Therefore, in the process of HRD detection and analysis, it is necessary to calibrate the purity and ploidy of tumor for individual patients, so that the detection results can more truly reflect the defect state of patients' homologous recombination Huada gene has carried out relevant verification for this link, fully confirming the scientificity and accuracy of GSA Technology independently developed by Huada < br / > According to statistics, after 2015, the 5-year survival rate of cancer patients in China is 36.9% [5] In view of this part of patients, there is an urgent need for a long-term and effective clinical means to dynamically monitor their disease progress However, the existing monitoring methods, such as tumor markers, CT scan, MRI, pet, molybdenum target X-ray and X-ray, have some limitations, with poor specificity or sensitivity The clinical effect for efficacy evaluation and recurrence monitoring is not good, which often makes patients miss the best time for treatment Especially in patients with new therapies, it is difficult to accurately evaluate the disease progress with traditional imaging methods For example, 2% - 8% of tumor patients receiving immunotherapy are reported to have false progress [6] However, ctDNA has short half-life and high sensitivity, which can reflect the dynamic changes of tumor in time Compared with common tumor markers, the disease progress reflected by ctDNA monitoring has better consistency with the positive image results [7] < br / > < br / > Huada gene and natera company of the United States have jointly developed a signatera technology for customized monitoring of solid tumor patients based on the principle of dnbseq sequencing This technique can detect tumor tissue and matched blood cells by whole exon sequencing (WES), and then carry out dynamic monitoring of patients' diseases by combining with ultra-high depth liquid biopsy The effective sequencing depth of specific sites is more than 30000 x, which can effectively detect somatic mutations with frequency < 0.1% [9-10], with a clinical specificity of up to 99.5% [8-12], To achieve earlier and more accurate prediction of tumor recurrence and disease progress < br / > < br / > in clinical trials of colorectal cancer, breast cancer, non-small cell lung cancer and bladder cancer, compared with imaging and tumor marker detection, this technology can prompt patients' clinical recurrence 24 months in advance [10-13] Signatera technology can not only detect the status of postoperative MRD, but also monitor the dynamic changes of ctDNA of patients in the whole process, accurately predict the progress of disease, prevent tumor recurrence in advance, provide reference for doctors to adjust the treatment plan, and strive for an effective window for patients to receive the most appropriate treatment Professor Zhou Jian, vice president of Zhongshan Hospital Affiliated to Fudan University and director of liver surgery: due to the epidemic situation, medical treatment and public health have become one of the hot topics of this year's two sessions In this year's report on the work of the government, it was mentioned that cancer prevention and control actions should be implemented, prevention and screening, early diagnosis and treatment and scientific research should be carried out to alleviate the pain of people's livelihood Liver cancer ranks fourth in China's cancer incidence rate, second in death rate, and heavy in disease burden How to establish a new technology of early detection of liver cancer, develop a new scheme of early warning of metastasis and recurrence, overcome the heterogeneity of liver cancer, and develop a new individualized treatment strategy has been the direction of Zhongshan Hospital Today, it's also a great honor to show the achievements of methylated liquid biopsy technology developed by us in cooperation with BGI This technology can detect liver cancer specific and epigenomic abnormal signals in free DNA in blood, so as to realize non-invasive detection of early liver cancer Its detection performance is significantly better than traditional tumor markers In addition, we have also launched clinical cooperation with Huada gene's customized monitoring technology in solid tumor patients This technology is aimed at monitoring the whole process of cancer patients during and after treatment It has a very wide range of clinical application scenarios and high clinical response and sensitivity At the same time, I also know that this technology has published data in nature, JAMA oncology, JCO and other magazines, and there are relatively solid clinical data showing that it can advance the clinical recurrence of patients compared with the existing imaging and tumor markers We hope that these new technologies can help promote the progress of clinical diagnosis and treatment programs for cancer patients in China and bring good news to cancer patients in China < br / > < br / > Professor Wu Xiaohua, director of Department of Gynecology, Cancer Hospital Affiliated to Fudan University: in October last year, the FDA approved nilaparil for the maintenance treatment of patients with three or more lines of ovarian cancer with HRD positive; in May this year, the FDA approved orlaparil combined with bevacizumab for the first line maintenance treatment of patients with HRD positive ovarian cancer In addition, the latest NCCN guideline for ovarian cancer (version 1, 2020) released this year mentioned that if BRCA1 / 2 gene test results are negative, HRD positive can be used as the first-line dimension of PARP inhibitor