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SHENZHEN, CHINA – Advances in high-throughput sequencing (HTS) genetic testing are revolutionizing the detection of rare diseases (RD), identifying 25% more disease-causing mutations than traditional methods, according to recent findings. This breakthrough offers families a powerful tool for informed reproductive choices and early disease prevention.
Rare diseases, affecting 1 in 20 people, often have a genetic origin, yet over 95% remain incurable. Early detection through genetic testing is crucial, as illustrated by the stories of families like the Taylors and the Chus.
Liz Taylor’s experience highlights the devastating impact of undiagnosed rare diseases. Diagnosed with neuroferritinopathy (NF) in her late 30s, she now communicates only through eye movements. Her story underscores the importance of early diagnosis and the missed opportunities for prevention.
The Chu family in Vietnam faced a similar challenge, with two sons suffering from severe muscle weakness. Whole Exome Sequencing (WES) identified Megaconial Muscular Dystrophy, an ultra-rare disease. Armed with this knowledge, the family used in vitro fertilization (IVF) and preimplantation genetic testing (PGT) to ensure their next child was born healthy.
A 2022 study published in Human Genomics further emphasizes the prevalence of hidden genetic risks. Researchers found that 1 in 12 couples in southern and southwestern China carried high-risk recessive genetic mutations, with a 25% chance of transmission to their children.
Expanded Carrier Screening (ECS) and Whole Exome Sequencing (WES) are now enabling the detection of significantly more rare genetic variants. Unlike older techniques that focus on common mutations, HTS provides a comprehensive analysis, uncovering previously undetected risks. This advancement is particularly vital for children, who account for half of all RD patients, with 30% dying before their fifth birthday.
“Genetic testing is not just a tool for diagnosis; it is a lifeline that offers families the power to prevent the devastating impact of rare diseases,” stated a spokesperson from BGI Genomics, who provided the information for this article. “By using genetic screening technologies like WES and ECS, families can make informed decisions, safeguard their children’s health, and in some cases, break the cycle of genetic disease before it begins.”
Disclaimer: This article is based on information provided by BGI Genomics. While genetic testing offers significant advancements in rare disease detection and prevention, it is crucial to consult with a qualified healthcare professional or genetic counselor for accurate interpretation of results and personalized advice. Genetic testing is not a guarantee of disease prevention, and individual circumstances may vary. The information provided in this article should not be interpreted as medical advice.
