Orchid’s Embryo Report

Orchid’s embryo screening includes more information than any other preimplantation genetic testing (PGT). By sequencing the embryo’s whole genome at high depth, Orchid not only looks at an embryo's chromosomes (PGT for aneuploidy) but also identifies a broader spectrum of conditions, including single-gene disorders (monogenic). Orchid’s report can optionally also include insights into complex diseases due to multiple genetic factors (polygenic).

Given the extensive information provided about each embryo, Orchid’s screening always includes free post-test genetic counseling. Additionally, families gain access to an online portal where they can review their results and find answers to frequently asked questions.

This guide walks you through the types of results you’ll see reported in a whole-genome embryo report and where to find this information in Orchid's online portal. For any questions, you can always speak to a genetic counselor by reaching out to genetics@orchidhealth.com.

For a brief walkthrough of how to view results on the customer portal, check out our guide:

If you're interested in how to find details about disease predispositions (Genetic Risk Scores) on the Orchid Portal, check out the below video:

What is included in Orchid’s Embryo Screening?

Orchid’s Whole Genome Sequencing Preimplantation Genetic Testing (PGT-WGS) can include four elements:

• Preimplantation Testing for Aneuploidy (PGT-A), plus enhanced detection of targeted microdeletions and duplications
• Monogenic screening through targeted panels
• Genetic predisposition screening
• Parental confirmation

Orchid’s comprehensive whole-genome preimplantation testing includes the standard Preimplantation Testing for Aneuploidy (PGT-A) found in typical embryo screening. This method detects whole or partial chromosome loss or gains. However, Orchid goes beyond standard practices by sequencing over 99% of the genome at a greater depth compared to most embryo screening providers. As a result, Orchid can identify several conditions missed by traditional PGT-A, including targeted small chromosomal microdeletions and microduplications known to cause developmental conditions that other screens can’t detect (for example, William Beuren syndrome).

Orchid is the only embryo screening conducting comprehensive monogenic screening for hundreds of conditions caused by single-gene disorders. Some of these conditions are inherited, while others are unique to a child (de novo). Families have the option to opt in for all offered genetic panels (genes related to neurodevelopmental disorders, birth defects, hereditary cancer, and secondary findings) or they can select a subset of panels. These options can be discussed during a call with an Orchid genetic counselor. Additionally, Orchid offers traditional Preimplantation Testing for Monogenic conditions (PGT-M), which focuses on a specific monogenic condition affecting an individual or carried by both partners in a couple. What sets Orchid apart is its ability to conduct PGT-M without necessitating a tailored test for a particular family.

Not all diseases are caused by a single genetic change. Some conditions are polygenic or “complex” and are caused by many genetic factors as well as environmental factors, like nutrition, exercise, and environmental exposures. Orchid also offers the option of genetic predisposition screening using Genetic Risk Scores (GRS). GRS can inform a family if an embryo has a higher genetic predisposition for common chronic conditions like diabetes or heart disease. This result does not provide a diagnosis but can help a family prioritize an embryo at lower risk for chronic disease.  

Families also have the option to submit saliva samples alongside the embryos to verify that the expected parents are the biological parents of the embryos tested.

Embryo report walkthrough

The online report begins with a summary of the chromosome (including embryo sex) and monogenic findings for all embryos in the cycle.  We’ll include information about whether an embryo was determined to be aneuploid, euploid, or mosaic and a brief note of any monogenic variants we detected. Embryo grading information is provided by the IVF center.

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The summary table will be accompanied by a written interpretation of the findings— this will be the same as the findings in the clinical report provided to the ordering provider. If there is a monogenic finding, the report will include details about the gene, variant, and related condition, and possibly suggestions for further testing.

Below this view, you can compare the genetic health of any two euploid embryos in the comparison view.  If you’ve tested for genetic predispositions, you can compare them here as well.

Embryo details

While the summary table gives a high-level overview of the findings for an embryo, to view more details you can select the embryo-specific view by choosing “Review”.

The first thing you’ll see on the embryo view is a review of the monogenic findings. We’ll list the results for each of the four standard Orchid panels you’ve chosen to test, as well as any variants you’ve specifically targeted for testing.

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After the monogenic findings, we’ll include a summary of Genetic Risk Scores (GRS) for the embryo and how to contextualize them. While both monogenic variants and genetic risk scores influence the health of a future child, it’s important to think about them differently than monogenic findings. Orchid only reports monogenic variants which are known to result in serious health conditions in a child. Genetic Risk Scores, on the other hand, predict a predisposition to disease; an embryo with an elevated risk of schizophrenia, for example, may have a 5% risk of developing disease, instead of the 1% risk in the overall population.    

You can read more about the science behind our Genetic Risk Scores here and the difference between monogenic and polygenic conditions here. To see the impact that prioritizing embryos against a polygenic disease could have on your family, you can check out our risk calculator here.

To start, you’ll see how the embryo’s absolute risk of disease compares to the population average for each of the screened diseases in a summary table:

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It’s important to note that the predispositions available in an embryo report will differ by the ancestries of the biological parents.  GRS models are developed using publicly available genomic data sets, which have historically included relatively few individuals of non-European ancestry, leading to models which are less predictive for non-European populations. Orchid will only release GRS which we are confident has high predictive power for your ancestry. By continually updating our GRS, we strive to provide more reliable risk scores across all ancestries.  The genetic risk scores generally available for each ancestry are shown below.

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You can find details about each specific disease below the summary table.  The report walks through three ways to think about each of these diseases

• The absolute risk that the embryo will develop the disease at some point in their lifetime (for example, roughly 1/100, in the case of schizophrenia below)
• How the embryo’s risk compares to average disease risk (about 1.1x, or 10% elevated)
• How the embryo ranks as a percentile of the overall population (here, 58th percentile)

If an embryo is higher than about the 97th population percentile in terms of risk, and has at least twice the overall absolute population risk of developing disease, the embryo is noted as having elevated risk.  

Family history

A family history of disease will increase the risk of polygenic disease. If you’re looking to minimize the risk of a specific polygenic disease across a cohort of embryos, you can view them all together in a comparison tool in the context of your family history of disease.  You can read more about our embryo family history tool here.  By noting your family history of disease, you can see how this changes the risk for each of the embryos:

Next Steps

This article is an overview of the information you’ll have available from a whole-genome embryo report, but an Orchid genetic counselor will always be available to talk through these results live — both during the initial consultation when the results are available, or if you have questions later.

If you’d like to learn more about embryo screening, or get started, you can schedule a call now with one of our genetic counselors. 

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