Instant Report

Date: 09-Jul-2021

China Launches The Worlds Largest Real-World Study On Screening And Diagnosis Of Male Reproduction-Related Genes


HOUSTON and SHANGHAIJuly 7, 2021 /PRNewswire/ -- On July 3, 2021, the "Caring for Men's Health" Charity Fund of the Chinese Primary Health Care Foundation and the Andrology Branch of Chinese Medical Association announced the launch of the " Real World Study on the Screening and Diagnosis of Chinese Male Reproduction-related Genes and Construction of the Chinese Male Reproduction-Related Gene Database" project. This project is currently the world's largest real-world research project on male reproduction-related genes. NuProbe is the only third-party organization that provides technical support for this projec

This real-world study will complete a database of at least 100,000 high-quality samples and phenotypes of reproduction-related genes of Chinese males within 3 years. These phenotypes include non-obstructive azoospermia and severe oligospermia, obstructive azoospermia, teratozoospermia, disorders of sexual development, idiopathic hypogonadotropic hypogonadism and other common causes of clinical male infertility. The database will uncover the mutation frequency, distribution and phenotypic characteristics of Chinese male infertility-related genes. Based on this, physicians will systematically standardize the criteria for phenotype collection, genetic testing and variant interpretation of male infertility in China, and establish a resource collection network, sample database, phenotype database, genotype database and molecular epidemiology database for male infertility.

Real World Study of Male Infertility
Infertility has become a global social problem, affecting around 10% of couples of reproductive ages. It has been ranked by WHO as the third most common disease after cardiovascular disease and cancer. China has listed reproductive health as an important development goal and has recently proposed a policy that allows a couple to have three children. However, the incidence of infertility in China has increased rapidly in recent years, with the present prevalence rate at 12.5% and exceeding 15% in some regions. There are more than 60 million infertility patients, with an average of 1 in 8 couples having infertility problems, posing a serious challenge to the fertility situation in China.

Currently, given the inadequacy of diagnostic tools and insufficient understanding of infertility causes, a large number of infertility patients are constantly seeking care and trying experimental or empirical drugs, resulting in a continuous increase of infertility patients each year. Males account for 50% of infertility patients. For a long time, without effective clinical research data and the introduction of advanced technologies, diagnostic methods mostly remain unchanged since the 1990s, resulting in the precision diagnosis and treatment of infertility falling far behind. Therefore, large-scale population studies and the translation of key technologies are in urgent need.

With the rapid advancement of next generation sequencing (NGS) technology-based research, an increasing number of male infertility diseases have been confirmed to be highly correlated with genetic variants. The Andrology Branch of Chinese Medical Association officially launched the "Expert Consensus on Male Reproduction-Related Genetic Testing" in September 2020. Furthermore, based on the current three problems of 1) insufficient clinical awareness of the necessity of genetic testing for male infertility, 2) the lack of research data on Chinese male infertility population, and 3) unstandardized criteria of male infertility genetic testing and interpretation, the Chinese Medical Association and other organizations have decided to initiate a multi-centered large-scale study to systematically investigate the genetic structures of the Chinese male infertility population. This will help provide solid data for subsequent clinical genetic diagnosis and counseling.