Frequently Asked Questions

For Patients

Which disorders are you able to test for?

PGT-A (Aneuploidy):

Previously known as PGS, testing to determine if the correct chromosome number is in the embryo (explained here).

PGT-SR (Structural Rearrangement):

Sometimes known as chromosomal PGD, testing for translocations and inversions.

PGT-M (Monogenic Disorders):

Sometimes known as PGD, testing for all single-gene disorders when there is a family history.

  • Cystic Fibrosis
  • Thalassemia
  • Huntington's disease
  • Our test is universal, covering all known monogenic diseases.

Copies of previous genetic testing results are required. Saliva samples from other family members may be required. Our genetic counselor and laboratory director will review your case and determine if testing is possible.

PGT-P (Polygenic Disorders):

  • Type 1 and Type 2 Diabetes
  • Coronary Artery Disease, Heart Attack, Hypercholesterolemia, Hypertension
  • Breast Cancer, Testicular Cancer, Prostate Cancer, Malignant Melanoma, Basal Cell Carcinoma
  • Schizophrenia

What is PGT-P?

PGT-P stands for Preimplantation Genetic Testing for Polygenic disorders.

Polygenic disorders are caused by variants in multiple genes.

Is PGT-P a diagnostic test?

No. PGT-P is for assessment of risk, NOT a diagnostic test, embryos cannot be diagnosed. Furthermore, there is a risk of discarding embryos that may have led to healthy outcomes with regards to the polygenic disease(s) tested through this methodology. Conversely, disease risk is not eliminated in embryos designated as “normal risk” and embryos chosen for transfer may ultimately develop into individuals with the condition(s) that was screened for using PGT-P.

Does a high risk for PGT-P translate into “Not Suitable for Transfer?” If not, what is it useful for?

A recommendation for or against transfer is not provided for polygenic conditions. We believe reproductive decisions surrounding PGT-P results should be determined by the patient and the physician, with the benefit of a Genetic Counselor.

Identifying embryos that are at high risk may help some families prioritize which embryos they would choose for a transfer cycle, and in which sequence of preference, similar to how embryo morphology is being used currently. Furthermore, knowing the profile of the implanted embryo may help inform medical management in the future.

Independent third party estimates as to the risk reduction may be found here.

For Clinicians

How do I send samples to Genomic Prediction Clinical Labs (GPCL)?

Visit our Become a Provider page. After your clinic details are approved, log in credentials will be sent to you via email.

Once your credentials have arrived, log into the Portal. After adding your own information under Create New Clinician, you can begin the process of adding new patients in your account. Genetic counseling is recommended, but not required, for PGT-A. It is required for PGT-M, PGT-SR and PGT-P.

You can order biopsy kits in the Kit Dashboard. Once your biopsy kit arrives in the mail, follow the instructions to send your embryo biopsies to GPCL in New Jersey, USA. Follow the progress of the biopsies on the Kit Dashboard page. You will get a report on your embryo biopsies within 7 days of biopsy kit arrival at GPCL for ⓖSEQ (PGT-A), and 14 days of arrival at GPCL for EPⓖT (PGT-A, PGT-M, PGT-P, PGT-SR).

What are the benefits of using ⓖSEQ over other PGT-A kits?

ⓖSEQ is a new, innovative, and proprietary technology completely different from the other technologies in the industry. Please watch this video here.

  • Safer
  • Faster
  • More affordable
  • Comprehensive
  • Easy

Safer: ⓖSEQ has a single-step library prep. Fewer steps means fewer mistakes.

Faster: ⓖSEQ has ultra-high throughput (48 samples per sequencing run) and processes samples in hours, not days (a fraction of the time required for VeriSeq or ReproSeq).

More Affordable: Less tech time and reagents used. We pass along the costs saved by the technological advances to IVF families.

Comprehensive: ⓖSEQ has the ability to detect abnormalities which older methods cannot, such as all forms of triploidy. We do our QA contamination check via genotyping methodology and do a sample pair check for relatedness. No competing kits on the market can do these.

Easy: All data analysis is 100% automatic, with an email delivered the moment processing is completed. This processing gives the clinician superior data detail, utility, and user interface. What's more, we are interested in adapting our software, user interface, and research projects to suit your particular needs.

Is EPⓖT (PGT-A, PGT-M, PGT-P, PGT-SR) available?

EPⓖT has been approved by the New Jersey Department of Health, and is available now.

Genomic Prediction’s Chief Science Officer, Dr. Nathan Treff, presented our validation study at the annual ASRM (American Society for Reproductive Medicine) meeting in October of 2018. Find a link to the talk here. EPⓖT cases may now be referred to us by clinics.

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

Genomic Prediction offers two options for PGT depending on your testing needs.

ⓖSEQ is a cost-effective, rigorously validated and streamlined test for aneuploidy screening. We accept biopsy samples and can perform the testing in house. You can also purchase our ⓖSEQ kit and do the analysis in your own laboratory. Once the analysis is complete, we analyze the data and send it back to you within hours.

  • PGT-A
  • NGS technology

EPⓖT uses genome wide genotypes and copy numbers to provide flexibility to your testing needs. Currently, this testing is only available at our laboratory in New Jersey.

  • PGT-A
  • PGT-M
  • PGT-P
  • PGT-SR
  • SNP technology

For Laboratories

Which sequencers are supported by ⓖSEQ?

ⓖSEQ has been tested to run successfully in our own lab and in client labs across the world on both the Illumina MiSeq and the Ion Torrent S5. Request our most recent whitepaper for more information on validation. We are capable of expanding ⓖSEQ to work on additional sequencer types, when a client requests it (for example: NextSeq, Ion Torrent PGM, Nanopore, etc).

If I want to try ⓖSEQ on my own sequencer, how do I order a ⓖSEQ Kit? What does it 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), as well as a number of 3D printed tools, and the documents required (protocol, manifest, sample submission sheet). Your clinic may order your kit here (Please include your title at the clinic and your sequencer setup).

If you are willing to contribute your data to publication, we will refund the cost of your first kit.

For Media

What screening in the past has been done which is similar to PGT-P?

Our PGT-P test is entirely new and unique. No other test in history has ever offered anything like PGT-P. It is the first test to provide Polygenic Risk Scores for an embryo. PGT-P has only recently been made possible by progress on the cutting edge of scientific advance.

The American Society for Reproductive Medicine (ASRM) and Society for Assisted Reproductive Technology (SART) provides a pertinent bioethical framework which serves to guide testing of human embryos. ASRM and SART do not distinguish between monogenic and polygenic disease risk. There is a formal bioethics position on this general subject, recently updated in 2018, written by the Ethics Committee of ASRM.

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.

A salient example is the case of breast cancer susceptibility. Many locations in the human genome affect the polygenic trait of “Breast Cancer Risk”. The example which the bioethicists focus upon in the paper is the BRCA1 gene. The presence of a correctly identified BRCA1 pathogenic or likely pathogenic variant increases the risk that an individual will develop cancer but the risk is not 100%. 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 simply compare to the potential negatives induced by PGT (damage to/destruction of the embryo, incorrect genotyping resulting in transfer of an embryo with BRCA1, etc), and must be weighed in consultation with a genetic counselor. However, PGT for BRCA1 is ultimately inferred to be ethically permissible. PGT-M for BRCA1 is practiced among members of SART, but not yet using a comprehensive, polygenic panel for the Breast Cancer Risk, PGT-P.

More generally, we adhere to the ASRM guidelines for moving innovation to practice.

Does Genomic Prediction screen purely cosmetic traits?

No, we only provide risk scores for polygenic traits related to diseases, not for purely cosmetic traits such as hair color and eye color. Our goal is to provide improved health to IVF families.

How do you determine the risk for each embryo?

We look at the whole genome of the embryo, looking at millions of locations. We use these locations to calculate something called a "polygenic risk score" (PRS) for each specific disorder. A score looks something like the below figure. Each one of those (thousands) of lines contribute to the whole.

See our recent Nature Scientific Reports paper on the subject, for validation of these predictors

PRS are developed using data from very large biobanks with hundreds of thousands, or millions, of people. You can find images from one of the biobanks we use here.

PRS are now commonly accepted and used in medicine in adults, and in animal breeding: a common use example is the prediction of milk production or disease susceptibility in a cow.

Here are two technical descriptions of how this is achieved.

Here an interview at Berkeley with Jennifer Doudna (CRISPR inventor) and her panel.

Does Genomic Prediction Clinical Laboratory screen embryos for increased intelligence i.e. high IQ?

No. We only screen against negative (disease) risks. We report the embryos’ risk of intellectual disability. We do not screen embryos for high intelligence.

© Genomic Prediction, 2020