Infertility is a major global health issue that impacts millions of people. According to an April 2023 report from the World Health Organization (WHO), 1 in 6 people are affected by infertility globally. That means approximately 17.5 percent of adults experience infertility at some point in their lifetimes. Data also shows that worldwide fertility rates have dropped nearly 1 percent per year since 1960.
Over the last few decades, advancements have been made in fertility care through the invention of assisted reproductive technologies (ART), such as in vitro fertilization (IVF). Today, it’s estimated that more than 5 million children worldwide have been born through the help of ART. Still, the prevalence of infertility demonstrates the dire need to prioritize reproductive health research.
Next-generation sequencing (NGS) is a genomic testing technology increasingly leveraged for fertility research. NGS, first introduced for commercial use in 2005, allows for the interrogation of hundreds of thousands of genes or whole genomes at once from multiple samples. While it’s often used in oncology research and to study infectious diseases, NGS applications are expanding in reproductive health and fertility research, fueled by a deeper understanding of how genetic signals can influence fertility and pregnancy.
How NGS is used in fertility research
Understanding potential genetic risks is a key step in evaluating reproductive complexities.
Preimplantation genetic testing offers crucial insights through two primary methods: Preimplantation genetic testing for aneuploidy (PGT-A) and preimplantation genetic testing for monogenic or single-gene disorders (PGT-M). PGT-A assesses chromosome presence and frequency in embryo biopsies, provides valuable insights into chromosomal abnormalities, and potentially lowers miscarriage rates by helping select optimal embryos for IVF procedure. PGT-M, on the other hand, focuses on testing for specific genetic variants to detect the risk of inherited disorders.
NGS gained prominence in the field of PGT-A around the mid-2010s and has been shown to have up to 100 percent sensitivity and specificity for both whole chromosome and segmental aneuploidies.
Benefits of NGS over traditional testing options
NGS-based testing's high throughput, versatility, and accuracy have unlocked new areas to explore reproductive health, genomics, clinical research, precision medicine, and diverse scientific domains. Its unique capability to process multiple embryo samples in a single run by low-pass whole genome sequencing significantly increases the throughput and reduces the cost and turnaround time. NGS boasts high accuracy, specificity, and sensitivity, even with minimal DNA from three to five cells, preserving valuable embryo biopsy samples.
NGS has transformed reproductive health research by delivering high-throughput genetic analysis with unwavering accuracy and reliability. It unveils rapid, crucial genetic insights that may enhance the health of future generations and boost pregnancy success rates.