TECHNOLOGY

 

GSN's proprietary technology, called Parental Support™, is the first PGD technology to leverage data informatics to deliver highly accurate single cell testing for both aneuploidy and multiple disease-linked loci in parallel.

 

Since only a single copy of DNA is available from one cell, DNA measurements from conventional testing techniques are highly error-prone. This is a significant issue in the case of PGD where only one cell is available for analysis. The primary problem is allele dropout (ADO), defined as the failure to amplify one of the two gene copies (alleles) in a heterozygous cell. High ADO rates have caused PGD misdiagnoses, with documented error rates on the order of 5-10%.

 

Similarly, in the case of PGD for aneuploidy, current Fluorescent In Situ Hybridization (FISH) technology is limited and based on unreliable and severely limited data. Not only is accuracy a problem with error rates on the order of 10%, but the number of tests that can be performed on a single embryonic cell is limited.

 

Our Parental Support technology combines advanced informatics with high-throughput genotyping of the parents and data from the human genome project to reconstruct embryonic DNA using a computer algorithm, thus neutralizing the effect of ADO and delivering highly accurate diagnostic results. Parental Support can be simultaneously applied to genotyping multiple DNA loci and aneuploidy screening for all 24 chromosomes.

 

Confidence in genotype and copy number calls are explicitly computed and typically exceed 99% - in other words, error rates are less than 1%. The technology is run on a 24 hour laboratory protocol producing results in time for Day 5 embryo transfer within the same IVF cycle - no embryo freezing is required. GSN has a number of US patent filings covering this technology.

 

Currently available: 24 chromosome aneuploidy screening

Available in 2009: Concurrent screening for aneuploidy and single-gene diseases