Reproductive health is fast becoming a desired source of education for family planning, regardless of age or ancestry. The parents of 80% of children born with a recessive disorder are not aware of a family history of that condition,1 but labs implementing inherited disease research and research findings from next-generation sequencing (NGS) are changing that. NGS drives fast, accurate, and comprehensive detection of a large spectrum of genetic variants in the research of disease risk factors for inherited disorders. Expanded carrier screening (ECS) and preimplantation genetic testing (PGT) are two of the fastest-growing reproductive health research applications being pursued.
Expanded carrier screening (ECS) research involves testing of blood, saliva, or tissue to determine carrier status of specific genetic variants for a condition. Findings from carrier screening research provide scientific insights to help families determine their most likely path for future pregnancy and healthy offspring. Traditionally, carrier screening research leveraged physical attributes or known family history for specific conditions. However, as pan-ethnic and multicultural societies become more prevalent, gene variants become more widespread and less specific, making these family histories less reliable as research tools. NGS enables expanded carrier screening research with rapid analysis of the broadest array of conditions, generating more precise and complete data around prevalence of rare, heritable conditions and the likelihood of passing them on through the generations.
Families may determine that in vitro fertilization (IVF) offers the greatest probability for healthy offspring due to expanded carrier screening findings or other personal or medical knowledge. Preimplantation genetic testing (PGT) by NGS delivers genetic insights used for research of embryo prioritization. PGT-A offers swift, accurate identification of aneuploidy (abnormal chromosome number), while PGT-M uncovers presence of monogenic disorders.
NGS technology is revolutionizing the field of reproductive health. NGS can interrogate hundreds to thousands more genes than its predecessor technologies in a cost-effective manner. NGS enables research and analysis of various genomic features from a single sequencing run, including single nucleotide variants (SNVs), copy number variants, and structural variants. Genetic findings for reproductive purposes guide decisions toward faster time-to-pregnancy and healthier future offspring.
Thermo Fisher Scientific’s innovative sequencing technology makes reproductive genetic testing simpler than ever, with its automation, speed, and cost-effectiveness. Combined with friendly, intuitive software that simplifies analysis and reporting to minimize bioinformatics expertise, Ion Torrent’s advancements make NGS accessible to a far greater range of reproductive genetics researchers and specialists.
Learn more about Ion Torrent™ NGS solution for Reproductive Health research.
1. Gao, Z., Waggoner, D., Stephens, M., et al. (2015) An estimate of the average number of recessive lethal mutations carried by humans. Genetics 199(4): 1243–1254.