Reproductive Genetics

Why base a critical decision on selective information when you can rely on complete, genome-wide screening?

In vitro fertilization (IVF) continues to offer hope for millions of families that struggle with infertility. Pre-implantation genetic screening (PGT)—designed to screen embryos for aneuploidies and known genetic variants—is a critical part of the process.

Molecular techniques based on PCR, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), SNP arrays, or next-generation sequencing (NGS) enable high resolution, accurate genotyping, representing a significant advance over the insights supported by strict phenotypic evaluation of embryos. Of these methods, NGS is the only one capable of offering information about all major types of chromosomal abnormalities, as well as a genome-wide assessment of known variants associated with mendelian and non-mendelian diseases.

BioSkryb’s highly accurate and scalable single-cell whole genome amplification (WGA) technology (PTA) captures near-complete genomes from minute quantities of genetic material, thereby increasing the sensitivity and precision of PGT. This enables more comprehensive screening of embryos to support life-changing pre-implantation decisions.

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Working with Bioskryb Genomics was an amazing experience. In part because of the quality of the training and support they provided during the assay setup, in part because their method generates gorgeous data. While acting as Director of the Personalized Genomic Medicine Division at Columbia University in the mid 2010s, I experimented with single-cell genome amplification. I quickly gave up on that effort because of the poor uniformity and high artifact content of the PCR-based technologies. Using the Bioskryb Genomics method was really a revelation. The uniformity of amplification and the specificity and sensitivity of both SNV and CNV detection was comparable to unamplified genome sequencing results. This technology represents a great promise for reproductive medicine as well as for other applications. Great contribution to science and medicine; Congratulations to the developers!"

Peter L. Nagy MD PhD
Chief Medical Officer, Praxis Genomics