In the past decade, carrier screening has become more and more recognized at home and abroad, and more and more medical institutions have taken carrier screening as an important measure for the prevention and control of primary and secondary birth defects. In China, although there have been many research on the application of carrier screening in the Chinese population in the past, there is still a lack of guidance on the content and key issues of carrier screening in the Chinese population.
Recently, the consensus on carrier screening compiled by three authoritative institutions has been published one after another, namely "Expert Consensus on Key Issues of Comprehensive Carrier Screening (2024 Edition)", "Expert Consensus on Carrier Screening Laboratory and Clinical Practice for Reproductive Populations", and "Expert Consensus on Clinical Application of Carrier Screening for Common Recessive Monogenic Genetic Diseases Before Pregnancy and Early Pregnancy", marking a broader and in-depth exploration of the clinical application of carrier screening in mainland China, which can provide reference for carrier screening in health management and disease prevention.
At present, at the societal level, carrier screening still lacks widespread awareness at the general level, and it is often difficult for healthy couples to understand why healthy couples have hereditary diseases when they have healthy offspring?
First of all, this situation is mainly based on a basic principle: the husband and wife carry the same disease-causing gene at the same time, and the offspring inherit two disease-causing genes, resulting in the disease.
Taking autosomal recessive diseases as an example, couples who carry the same disease gene have a 1/4 chance of having an offspring. In routine prenatal check-ups, these abnormal fetuses are not easy to detect and usually do not show problems until after birth. Studies have shown that on average, each normal person carries 2.8 pathogenic variant genes for recessive genetic diseases. This means that seemingly healthy couples may also "very coincidentally" carry a pathogenic variant of the same disease.
Importantly, carrier screening is an effective solution for this condition. Couples of childbearing age who intend to have children should be screened for carriers of monogenic recessive genetic diseases during the preparation for pregnancy or early pregnancy, and whether the husband and wife are carriers of the pathogenic genes of the same monogenic recessive genetic diseases or X-linked recessive diseases, so as to understand the carrier of their own mutant genes, detect the reproductive risk as early as possible and intervene in time, so as to effectively prevent the occurrence of serious genetic diseases.
With the deepening of research and the accumulation of rich clinical experience, several editions of the expert consensus have basically covered a wide range of population needs, and we have sorted out and summarized the core similarities and differences in the three versions of the guidelines, hoping to provide effective information for clinical practice and help carrier screening benefit more people from the clinical end to the patient side.
At present, there is a lack of effective treatment for most genetic diseases, but early detection of high-risk couples and individuals with high-risk genetic diseases who may have children with genetic diseases through carrier screening, combined with genetic counseling and prenatal diagnosis, can effectively prevent the occurrence of severe monogenic genetic diseases in the next generation. The three versions of the consensus mark a deeper exploration of the clinical application of single-gene genetic disease carrier screening in China, emphasizing the importance of carrier screening before or in the first trimester, and reducing the rate of birth defects by giving scientific birth guidance.
Based on the understanding of the consensus of the guidelines and years of clinical assistance experience, Yaji Technology provides a comprehensive solution for carrier screening, helping pre-pregnancy/early pregnancy groups to screen for 307 diseases, check risks, prevent and control birth defects, and provide effective clinical assistance to jointly escort reproductive health.
The solution mainly uses whole-exome sequencing, combined with the self-patented WEAVER algorithm, to break through the technical difficulties of copy number variation analysis at the homologous sequence and single exon level, and comprehensively cover conventional and difficult genes. Comprehensive and high-precision genetic analysis is carried out for 307 common diseases such as thalassemia and spinal muscular atrophy, which suggests imperceptible risks and guides scientific fertility.
Knowing early when preparing for pregnancy makes parenting more secure
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[1] Prenatal Screening and Diagnostics Group, Birth Defects Prevention and Control Committee, Chinese Preventive Medicine Association. Expert consensus on the clinical application of screening carriers of common recessive monogenic genetic diseases before pregnancy and early pregnancy[J]. Chinese Journal of Perinatal Medicine, 2024, 27(1): 3-12.
[2] Reproductive Health Branch of China Maternal and Child Health Association. Expert Consensus on Carrier Screening Laboratory and Clinical Practice for Fertility Population[J]. Chinese Journal of Reproduction and Contraception, 44.
[3] Genetic Diagnosis Branch of the Chinese Genetics Society, Clinical Genetics and Genetic Counseling Committee of the Shanghai Genetics Society. Expert Consensus on Key Issues in Comprehensive Carrier Screening (2024 Edition)[J]. Int J Genetics,2024,47(01):1-11.
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