Published 30 October 2020
几乎每个人都被癌症触及，无论是因为朋友或家人都被诊断出来，还是亲自与疾病一起生活。但是，虽然这种疾病在某种程度上普遍看来，但癌症本身就像指纹 - 作为被诊断患者的个体是独一无二的。癌症是基因组的疾病，由遗传突变驱动。这就是为什么基因组测试至关重要，以帮助理解癌症的潜在生物学，以便针对他们的治疗并提供个性化护理。
一种cancer genomic test习惯了识别DNA突变在癌细胞内确定肿瘤如何表现和生长。这些见解可以增加可能性of optimising and individualising an informed patient care plan forindividuals with cancerbased on the specific mutations identified.
综合基因组分析（CGP）是一种寻找癌症肿瘤独特的“指纹”的一种方式。使用肿瘤的活组织检查 - 用组织样品或血液检测 - CGP在大量癌症相关基因上搜索遗传突变，鉴定已知涉及致癌过程的那些，影响如何肿瘤的行为和生长。CGP的见解帮助医生细化他们的诊断，并提供预后信息以及对每个人的预测洞察力。这反过来允许医生与现有的有针对性疗法相匹配癌症突变，并排除不必要的疗法。通过CGP，治疗可以个性化以每个个人肿瘤的独特形式 - 匹配癌症的独特的“指纹”。了解更多here。
减少不确定性治疗方案,reby helping patients potentially avoid unnecessary or non-beneficial treatment.
Providing confidence in the treatment journey for people living with cancer and their doctors.
“It was one of those situations, as a never-smoker, where it’s a complete shock,” said her physician, Dr. Jeffrey Rothenstein, Medical Oncologist at the Durham Regional Cancer Centre, Oshawa, Canada. Both Jennifer and he had the question that nearly every cancer patient asks: “How can this be happening and why did this happen?” Rothenstein did some initial testing, including testing for single cancer-causing genes, and Jennifer was negative. No answers.
一种t that point, Dr. Rothenstein brought up the option of genomic testing. He explained to Jennifer that CGP would be able to identify the specific, unique DNA mutation profile within her cancer cells, which would help him guide decisions in a treatment plan. Dr. Rothenstein had started Jennifer on chemotherapy, and she’d responded to the treatment, but both wanted to be sure they had left no stone unturned in fighting the disease. Jennifer felt relieved to have another option.
The CGP testing came back and revealed that Jennifer did have a specific mutation in her cancer that would respond to a targeted therapy. Targeted therapies treat cancer, interfering with the ability of cancer cells to grow and multiply, leading to the death of the cancer cells. While chemotherapy usually affects normal cells along with the cancer cells, targeted therapies impact only the cancer pathway that is driven by the specific genetic mutation. They are also associated with fewer adverse events than chemotherapy, and therefore a better quality of life. As researchers discover molecular pathways that drive specific cancers, drugs can be designed to block those pathways. Targeted treatments have not been discovered or developed yet for all types of cancer, but the insights from CGP helped Jennifer’s physician find the individual treatment for her.
Once Dr. Rothenstein put Jennifer on a targeted therapy, she was able to get off chemotherapy and no longer have to endure its side effects. “The treatment worked really well for her,” he said. Unfortunately, Jennifer’s cancer eventually developed resistance to this treatment, so she was subsequently switched to another targeted therapy, also identified through her genomic testing results.
The next evolution in cancer testing: liquid biopsies
一种s scientists’ understanding of the underlying causes of cancer has evolved, so have the options for CGP. CGP of biopsies can be done with a tissue sample of the tumour, or by drawing blood, since most cancer cells release DNA into the blood. Although tissue-based CGP remains the standard of care, these two types of biopsies are complementary, giving physicians options depending on the patient’s condition and personal circumstances.
For patients like Jennifer, genomic testing was a game-changer in the course of her advanced disease. As it gets easier, with liquid biopsies, physicians and patients will have high-quality options to use genomic testing to get the optimal therapy, for the best outcome.
“I think we are evolving to a place where genomic profiling will be part of a routine when a patient gets diagnosed with cancer,” says Dr. Rothenstein.