Maitra Dhritiman, Manek Payal, Gupta Neha, Srivastava Anurag
Breast, Endocrine Surgery & General Surgery, AIIMS, New Delhi, India.
Genetic Counseling Clinic, AIIMS, New Delhi, India.
Indian J Surg Oncol. 2021 Apr;12(Suppl 1):30-33. doi: 10.1007/s13193-020-01054-1. Epub 2020 Apr 4.
The field of genetic counseling in India has enormously transformed over the past few years. Genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. Genetic counseling is not merely having a conversation based on genomic data. It addresses the "information needs" of a particular patient, and customizes a session according to each patient's individual circumstances, thereby aiding in decision-making. In 2012, AIIMS (New Delhi) became the first tertiary care center in North India to provide genetic counseling for cancer. Among 200 cases that were referred for genetic counseling to the AIIMS clinic at the Department of Surgical Disciplines, about 30% of patients chose to undergo testing. Five cases of BRCA1/2 mutation were found conforming to the hereditary breast and ovarian cancer syndrome. There was one case of TP53 mutation conforming to Li-Fraumeni syndrome. One case each of Xeroderma Pigmentosum (XP) and Cowden's syndrome was also detected. All these cases were offered risk-reducing measures and put under life-long surveillance as per protocol. Their family members were also offered genetic counseling and subsequent testing if they agreed. Cancer genetic counseling service was a new exercise, and hence, several challenges were faced. The clinical utility of genetic testing, coupled with counseling, should be established by trials. Documenting the achievements of counseling by surrogate parameters like "improved recruitment rate of patients for genetic tests" and "improved patient satisfaction levels" will go a long way in garnering the much needed institutional support.
在过去几年里,印度的遗传咨询领域发生了巨大变化。遗传咨询是一个交流过程,处理与家庭中遗传疾病发生或发生风险相关的人类问题。遗传咨询不仅仅是基于基因组数据进行对话。它满足特定患者的“信息需求”,并根据每个患者的具体情况定制咨询环节,从而辅助决策。2012年,全印医学科学研究所(新德里)成为印度北部第一家提供癌症遗传咨询的三级护理中心。在被转介到全印医学科学研究所外科各科室诊所进行遗传咨询的200例病例中,约30%的患者选择接受检测。发现5例符合遗传性乳腺癌和卵巢癌综合征的BRCA1/2突变病例。有1例符合李-佛美尼综合征的TP53突变病例。还检测到1例着色性干皮病(XP)和1例考登综合征病例。所有这些病例都按照方案提供了降低风险的措施,并进行终身监测。如果他们同意,其家庭成员也会接受遗传咨询及后续检测。癌症遗传咨询服务是一项新举措,因此面临了一些挑战。基因检测与咨询相结合的临床效用应通过试验来确立。通过“提高基因检测患者招募率”和“提高患者满意度”等替代参数记录咨询成果,将有助于获得急需的机构支持。