science

Orchid uses whole genome sequencing for embryos

Screen over 99%* of an embryo's DNA with Orchid's breakthrough technology.
ORCHID SCIENTIFIC ADVISORS
Developed by world-class experts
The technology behind Orchid has been developed by experts in medical genetics, embryology, and assisted reproductive technology.
Jacques
Jacques Cohen, PhD
Pioneering Embryologist and foundational figure in IVF and ART innovation
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Roohi Jeelani, MD
Double board certified Reproductive Endocrinologist and Infertility Specialist (REI)
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Lusine Aghajanova, MD, PhD
Clinical Assistant Professor at the Stanford Medical Center
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Barry Behr, PhD
Professor of Obstetrics and Gynecology Emeritus at the Stanford Medical Center
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Jonathan Kort, MD
Double board certified Reproductive Endocrinologist and Infertility Specialist (REI)
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Jerry Lanchbury, PhD
Expert in immunogenetics, 100+ peer reviewed publications
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Jan Liphardt, PhD
Professor of Bioengineering at Stanford University
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Nathan Slotnick, MD, PhD
Perinatologist and Medical Geneticist
Whole-Genome Screening is an exponential step forward in pre-implantation genetic testing (PGT). Standard PGT will screen 0.25% of an embryo’s genome, and in rare cases, look for one known monogenic condition for which the couple are carriers. Orchid reads over 99%* of an embryo’s genome, and screens for 1200+ monogenic conditions simultaneously.
Validated methods
Clinically validated approach
Orchid's researchers conducted an extensive validation for whole genome sequencing preimplantation genetic testing (PGT-WGS). This validation serves as the groundwork for the first clinical whole genome screening on standard trophectoderm biopsies of preimplantation embryos.
Orchid reads 99.6%* of an embryo’s genome
Compared to traditional screening methods, which analyze less than 1% of the DNA, Orchid's method achieves a remarkable average of 99.6%* genomic coverage. Additionally, Orchid’s screen is extremely performant for other clinical measures like accuracy, specificity, sensitivity, and precision. This comprehensive analysis offers unprecedented insight into an embryo's genetic makeup.
Orchid correctly detects chromosome counts 99% of the time
Orchid’s Preimplantation Genetic Testing for Aneuploidy (PGT-A) performance matches or exceeds industry standards, with our results matching clinical grade PGT-A results 99% of the time. Notably, Orchid’s validated limit of detection for targeted microdeletion and microduplications associated with severe disease is ~5000x smaller than industry benchmarks, meaning we can find smaller issues that other tests miss.
Get started with Orchid
Screen embryos for 1200+ monogenic (single-gene) conditions before transfer and pregnancy begins.
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What does Orchid Screen for?
Monogenic (single-gene) screening
Orchid can screen for hundreds of monogenic disorders previously impossible to detect in embryos.

Geneticists have done extraordinary work to identify monogenic causes for severe conditions. They analyzed the DNA of thousands of individuals affected with various conditions like neurodevelopmental disorders, hereditary cancers, and birth defects to identify the genetic typo, or variation, that led to their condition.

Not every disease has a genetic cause but geneticists have compiled hundreds of genes that are known to cause genetic disease and this is what informs Orchid’s screening.

This table show the types of conditions Orchid screens for and the estimated percentage of cases that can be attributed to a single genetic cause based on scientific literature.
Read more here
Conditions Orchid SCreens for and the percent of cases that are attributed to genetics
NEURODEVEOPMENTAL DISORDERS 30%
Intellectual Disability 30%
Autism Spectrum Disorders 30%
Epilepsy 15%
HEREDITARY CANCER 10-40%
Adrenocortical carcinoma (pediatric) 50%
Retinoblastoma (pediatric) 40%
Ovarian cancer ~20%
Breast cancer ~10%
Pancreatic cancer 10%
Central Nervous System tumor (pediatric) 8%
Wilms’ tumor (pediatric) 10%
Prostate cancer 5-15%
Colorectal cancer (overall) 5-10%
Brain 5%
BIRTH DEFECTS 25%
Skeletal defects >50%
Hearing loss 50-60%
Heart defects 20-30%
Neuromuscular defects >50%
Vision loss 20-25%
Genetic predisposition screening
Many chronic diseases are influenced by the combined impact of thousands of genetic variations, not just one gene. Scientists have developed genetic risk scores to quantify an individual’s overall genetic predisposition to specific conditions.

This tables shows the diseases Orchid’s Reports cover. For individuals at high genetic risk, it shows the absolute lifetime risk which can be 2-30 times the average risk of the disease.
Read more here
Lifetime risk for chronic conditions, for average and high-risk populations
AVERAGE LIFETIME RISK HIGH-RISK PREVALENCE
(99TH PERCENTILE)
Alzheimer's disease 9.5% 62.9%
Atrial fibrillation 37.0% 61.8%
Bipolar disorder 2.8% 9.3%
Breast cancer 8.42% 29.2%
Coronary artery disease 27.0% 52.9%
Celiac disease 1.0% 9.9%
Inflammatory bowel disease 1.3% 5.4%
Prostate cancer 9.2% 40.4%
Schizophrenia 0.9% 2.8%
Type I diabetes 0.3% 7.4%
Type II diabetes 27.0% 57.2%
Class III obesity 12.0% 51.8%
Analyze more data + mitigate more risks
Orchid’s comprehensive screening
Orchid's comprehensive screening combines PGT-A, PGT-M, screens for 100s of genes linked to severe disease, and measures genetic predisposition to disease. These are all screened simultaneously from the same embryo biopsy used in traditional testing.
Get started with Orchid
Screen embryos for 1200+ monogenic (single-gene) conditions before transfer and pregnancy begins.
Get access
Detect extra or missing chromosomes
Detect one gene that causes one condition
Detect genetic predisposition (genetic risk scores)
Detect neurodevelopmental disorders (monogenic)
Detect pediatric and adult onset cancers (monogenic)
Detect birth defects (monogenic)
PGT-A
PGT-M
PGT-P
* Percentage is based on validation studies using genomic regions of National Institute of Standards and Technology GIAB samples

FAQs

How does Orchid work?
Orchid uses proven science to screen for more conditions in embryos than ever before.

Orchid uses whole genome sequencing to read an embryo’s entire genome, compared to < 1% that competitors read. This allows us to read 100x more genetic material, and screen for more unexpected genetic errors than ever before. We review these errors, and report those that are known to cause, or predispose a person to, disease.
Genetic variant analysis
Every embryo consists of billions of DNA letters that provide the embryo instructions to grow and develop. Every embryo will have spelling mistakes within their DNA, but some can lead to serious illnesses. We are able to pinpoint hundreds of these errors that cause severe diseases, a level of comprehensiveness that no other embryo screening method currently achieves.
Genetic Predisposition analysis
Orchid can identify elevated genetic risk for conditions that are associated with a combination of genes, not just a single gene variation. Orchid’s model has been validated through data from hundreds of thousands of individuals. Read more about the science for our GRS here, and access whitepapers for our GRS studies: Alzheimer’s disease, Atrial Fibrillation, Bipolar disorder, Breast cancer, Celiac disease, Coronary artery disease, Inflammatory bowel disease, Prostate cancer, Type 1 diabetes, Type 2 diabetes, Schizophrenia
How do I use Orchid?
Schedule a complimentary consultation with a board certified genetic counselor to learn more. We can answer your questions and refer you to fertility centers who provide Orchid services. Alternatively, you can ask your fertility doctor directly for access to Orchid.
Get started with Orchid
Screen embryos for 1200+ monogenic (single-gene) conditions before pregnancy begins.
Get access
Does a normal result guarantee a healthy child?
No genetic test can guarantee a “healthy child”. Orchid is a screening test targeting a specific subset of conditions. Orchid does not screen for all chromosomal/genetic conditions and no genetic test is 100% accurate. Embryo screening is not a replacement for prenatal diagnostic testing and screening options.
Why is this different than other embryo screening (PGT) tests?
Orchid reads 99.6%* of each embryo’s genome, compared to other tests that read a much smaller fraction - typically less than 1%. By reading more DNA, Orchid can screen for conditions previously undetectable in embryos such as single gene causes of neurodevelopmental disorders, birth defects, and cancers. Read more here.