Our Frequently Asked Questions

What are the benefits of using ⓖSEQ over other PGS products?

Ultra-high throughput (48 samples per sequencing run), single-step library prep, and the ability to automatically detect a large number of chromosomal abnormalities using industry-leading data analysis techniques makes ⓖSEQ faster, more efficient, and more accurate than traditional PGS products.

What sequencing systems are supported by ⓖSEQ?

Formally, Illumina’s MiSeq is the only sequencing system which has been used outside of our lab (currently, in 5 outside labs). We have tested it internally on our own Ion Torrent S5, where it works fine. We hope to find a partner to formally test on a clinical S5 in the near future.

How do I order a ⓖSEQ trial kit?

If you’re a provider interested in using ⓖSEQ for PGS, please send an inquiry to contact@genomicprediction.com.

What does a ⓖSEQ trial kit include?

A ⓖSEQ trial kit includes the reagents required for preparing 48 samples for a single ⓖSEQ assay (specifically, six 8-strip tubes containing the master mix), two 8-strip tube openers (one for pre- and post-amplification), and a USB key containing the ⓖSEQ protocol, manifest, and a MiSeq sample sheet template.

How do I find out more about ⓖSEQ or EPⓖT?

If you’re interested in learning more about ⓖSEQ or EPⓖT, please get in touch with us at contact@genomicprediction.com.

When will EPⓖT be available?

EPⓖT is currently in development, with release planned in 2018.

What is the difference betwen ⓖSEQ and EPⓖT?


Genomic Sequence
Quantification


Expanded Pre-Implantation
Genomic Testing

Fully Automated Report

Chromosome Abnormalities

Monogenic Disorders

Polygenic Disorders

Next Generation Sequencing

Microarray Technology

Number of disorders

Neanderthal Ancestry

Available for Adults

Available for Embryos

Available Now

Fully Automated Report

Chromosome Abnormalities

Monogenic Disorders

Polygenic Disorders

Next Generation Sequencing

Microarray Technology

Number of disorders

Neanderthal Ancestry

Available for Adults

Available for Embryos

Available Now

order of dozens

Learn More


Expanded Pre-Implantation
Genomic Testing

Fully Automated Report

Chromosome Abnormalities

Monogenic Disorders

Polygenic Disorders

Next Generation Sequencing

Microarray Technology

Number of disorders

Neanderthal Ancestry

Available for Adults

Available for Embryos

Available Now

100 - 1000

2018

Learn More

Which diseases will EPⓖT screen against?

A full disease list will be published when the product is released.

Does EPⓖT screen non-medical traits?

No, we’re expanding the reduction in risk for adult onset conditions. We want to provide improved health to IVF families.

Is screening based on advanced, probabilistic methodology in any fundamental way different from embryo screening done in the past?

Embryo screening without perfect certainty of course exists already in IVF, and is inherent to IVF, as it is to all medicine. Our methodology is an incremental improvement on the odds, but not a fundamental alleviation of the uncertainty problem. Improving information quality and validation for the decisions being made provides benefit to IVF families, but it can only reduce uncertainty, never remove it.

What screening in the past has been done which is similar to yours?

The American Society for Reproductive Medicine (ASRM) and Society for Assisted Reproductive Technology (SART) have some relevant positions which serve to guide testing of embryos.

ASRM/SART do not distinguish between monogenic and polygenic disease conditions; in part because essentially all disease risk is polygenic in nature, as most scientists readily comprehend. The human genome is complicated.

Testing for disease risk on the basis of several SNPs, as compared to testing on the basis of a single SNP, is different in degree, but not in kind. Many disease risks which are popularly described as monogenic are, at a deeper level of understanding, of course polygenic.

There is a formal paper from ASRM on this subject, from the Ethics Committee of American Society for Reproductive Medicine here.

A key phrase from the paper:

PGD for adult-onset conditions is ethically justified when the condition is serious and no safe, effective interventions are available. It is ethically allowed for conditions of lesser severity or penetrance. The Committee strongly recommends that an experienced genetic counselor play a major role in counseling patients considering such procedures.

The most salient example for Genomic Prediction in the paper is the case of SNPs increasing cancer susceptibility, affecting the polygenic trait of cancer risk. PGD has been used to screen against such variants many times over many years, by members of SART and ASRM.

The example which the bioethicists focus on in the paper is breast cancer risk, associated with the BRCA1 gene. The presence of the identified BRCA1 variant does not predict with certainty that an individual will ever develop cancer. Rather, this is a single SNP, affecting a highly polygenic trait (breast cancer risk). The ASRM Ethics Committee deliberates that the benefit of reduced cancer risk is difficult to compare to the potential negatives induced by PGD (damage to/destruction of the embryo, incorrect genotyping, etc), and must be weighed in consultation with a genetic counselor. However, PGD for BRCA1 is inferred to be ethically permissible. Of course, PGD for BRCA1 is widely practiced among members of SART, who adhere to the ASRM Ethics Committee.

Selecting against several BRCA variants simultaneously - for example, BRCA1 and BRCA2 - is an expansion upon the premise inherent in selecting against just BRCA1 alone. In this respect, the risk being screened against is not “BRCA”, but it is the polygenic trait “Breast Cancer Risk”, which is affected by BRCA1, BRCA2, and many other genetic loci besides. The Myriad panel is an example of screening for tens of locations for a polygenic trait like this.

A different disease example which is famously stochastic, but merely monogenic, is Torsion Dystonia. TD is primarily controlled by a single location in the genome, and has 30% of what is called “penetrance”, which means that if you have the genetic variant which is said to cause the disease, you get the disease 30% of the time. Nobody can reliably improve that prediction further; and in fact, there are famous (in the literature) cases of Dystonia where identical twins (with identical genetics) have discordant disease phenotypes. The stochastic nature of the correlation between genotype and phenotype appears, for the time being, to be inherent and irreducible. Nonetheless, Torsion Dystonia has for decades likewise been a target for PGD, as it has with many other, stochastic disease traits.

This is why PGD for some variants affecting disease risk is justified, when the condition is serious and no safe, and effective interventions are available. And this is why screening against conditions of lesser severity or penetrance is commonplace in the field.

More generally, we do our best to follow the SART guidelines for moving innovation to practice.

How can different disease risks be weighed against one another?

This requires genetic counseling and consultation with the clinic embryologist, as well as a genetic counselor. It should not be left to a mathematical formula.

© Genomic Prediction, 2017