Experts in Preimplantation Genetic Diagnosis

Dr. Dagan Wells and Dr. Santiago Munne recently published another article on Next Generation Sequencing (NGS) for use in preimplantation genetics. NGS has the potential to provide the whole genome sequence of an embryo, detect chromosome count, inherited and de novo gene defects, and traits. However, the current cost of a whole sequencing a cohort of embryos is still prohibitive. There are alternatives that are enabling a reduction in the analysis cost and our scientific team is evaluating the amount of information obtained through these methods. Currently, to match or lower PGS prices of current tests (aCGH, SNPs, qPCR) these cost reduction methods also reduce the resolution of NGS and and only allow us to count chromosomes and we are still evaluating the ability to detect all translocations.  At this time it seems NGS is offering similar or less resolution than current Comprehensive Chromosome Screening techniques at similar or lower prices.

Link to article: