Smarter family health starts with DNA insights

Family health history is more than just a story—it's a roadmap. As genetics and technology converge, understanding our DNA is becoming the key to building healthier families and preventing inherited conditions before they occur.

According to World Health Organization data, around 5–10% of all babies are born with a genetic condition. Many of these disorders can be prevented, or at least better managed, through early detection using carrier screening, which provides genetic analysis of potential disease risks and informs reproductive decisions.

Genetic testing offers a window into that future. By analyzing an individual's DNA, carrier screening can identify couples who carry recessive genetic variants linked to serious diseases such as cystic fibrosis, spinal muscular atrophy, or thalassemia. When both partners carry a mutation in the same gene, their child has a 25% chance of being affected. Early awareness gives families the chance to plan ahead and seek options—whether through genetic counseling, IVF with preimplantation testing, or prenatal diagnosis.

One study published in The New England Journal of Medicine demonstrated how preconception DNA testing across hundreds of genes can detect at-risk couples who would otherwise remain undetected using traditional methods. Researchers found that expanded carrier screening increased detection rates for at-risk couples by more than tenfold, highlighting the potential of genomic insight to shape reproductive health outcomes.

Newborn genomics adds a second safeguard. When a baby is ill without a diagnosis, rapid sequencing can end a diagnostic odyssey and guide treatment. As Dr. Stephen Kingsmore, president of San Diego's Rady Children's Institute for Genomic Medicine, put it: "Those first cases made us realize that, for the sake of 5 cents, these children could have had a completely different outcome".

In Asia, large-scale screening initiatives powered by biotechnology are already transforming population health. Thailand's pioneer genomics project, like Genomics Thailand, leverages DNA-based newborn screening, shifting from reactive treatment to proactive prevention. By identifying carriers of rare genetic conditions and detecting newborn disorders early, these programs not only save lives but also reduce the long-term health burden for families and healthcare systems.

BGI Genomics VISTA™ Carrier Screening can support such genomics projects, through offering an expanded panel capable of detecting hundreds of disease-related genes. Clinicians and families use these insights to anticipate risks, understand inheritance patterns, and make proactive reproductive decisions. The goal is not prediction but prevention. Early prevention will empower people to act before disease manifests.

Family Health reminds us that health runs in families, but so does the power to change outcomes. Today, the intersection of DNA science and family history offers more than knowledge—it offers foresight. When families understand their genetic story, they can write a healthier one for generations to come.

About VISTA™ Carrier Screening

VISTA™ Carrier Screening uses Next Generation Sequencing (NGS) technology to identify individuals or couples at risk of passing on a genetic condition to their child, offering multiple panel options (Mini, Targeted, & 1200+). The latest 1200+ panel product can detect more than 1200 genetic disorders.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.