For couples navigating the often emotional and expensive journey of IVF, new advances in embryo genetic analysis offer something they’ve never had before: deeper insight into their future child’s health, traits, and potential risks—before implantation even begins.
Through the use of whole-genome sequencing, Mendelian analysis, and polygenic risk scores, these technologies are offering parents a glimpse into which viable embryos carry higher risks for conditions like heart disease, Alzheimer’s, or even anxiety. As science continues to evolve, so do the tools shaping how families begin.
How Embryo Genetic Analysis Works
Once an embryo has undergone PGT-A testing (screening for chromosomal abnormalities), its genetic data can be uploaded for extended analysis. There are two main methods for this:
- Whole-genome sequencing: Reads nearly all of an embryo’s DNA and identifies rare pathogenic variants.
- Microarray genotyping: Scans common genetic markers (SNPs), often used for calculating polygenic scores.
Each embryo is then evaluated for a wide range of conditions—from endometriosis, rheumatoid arthritis, and colorectal cancer, to traits like height, eye color, and handedness.
Mendelian Analysis: High-Impact Disease Risk
Mendelian analysis focuses on rare but powerful gene mutations known to cause specific diseases. For example, a pathogenic variant in the LDLR gene may dramatically increase the risk of heart disease. When these high-impact variants are present, they can supersede broader risk predictions and act as the primary indicator of concern.
Clinical geneticists manually review flagged markers using gold-standard guidelines from the American College of Medical Genetics (ACMG) to ensure accuracy.
Polygenic Risk Scores: Decoding Complex Traits
For most common conditions and traits—like BMI, migraine, or depression—scientists use polygenic risk scores (PGS). These scores aggregate the effects of hundreds to millions of genetic markers to calculate an embryo’s relative risk for a given condition, compared to the average population.
Each score is ancestry-adjusted to improve accuracy across diverse backgrounds and presented on a normalized bell curve. A score above average might suggest higher risk for developing, say, Alzheimer’s, while a below-average score might indicate lower likelihood.
Factoring in the Non-Genetic: A More Realistic Picture
Genes matter—but they’re not the full story. Modern embryo assessments are beginning to factor in non-genetic risks such as sex, age, BMI, blood pressure, and more, based on predictive life-course assumptions.
For example, even without knowing an embryo’s future lifestyle, models assume that the average adult will carry at least one risk factor for heart disease. These assumptions help estimate absolute risk, offering a more balanced perspective for future parents.
Does This Technology Actually Work?
The short answer: yes, with caveats. Studies show embryo DNA matches newborn DNA with over 99% accuracy, supporting the validity of these predictions. In sibling comparisons, the child with the higher polygenic score for conditions like diabetes or breast cancer was often the one who developed the disease.
Still, it’s important to remember: DNA is not destiny. These models are probabilistic, not prescriptive.
What This Means for Family Planning
As one in 50 births in the U.S. now results from IVF, families are increasingly interested in using science to improve outcomes—not to design their children, but to give them the healthiest possible start.
This technology empowers parents to make informed, ethical decisions, especially when faced with difficult choices between multiple viable embryos. It’s not about selecting perfection—it’s about understanding potential.
How CircleDNA Complements This Genetic Revolution
Even if you’re not going through IVF, understanding your own DNA can offer critical insights into your family health history, genetic carrier status, and predisposition to conditions like ADHD, cardiovascular disease, and cancer.
With the CircleDNA Premium Test Kit, you get over 500 reports covering:
- Cancer and chronic disease risk
- Fertility and family planning insights
- Carrier status for over 100 hereditary conditions
- Mental health, stress resilience, and sleep traits
- Personalized nutrition and fitness guidance
Whether you’re planning for your family’s future or simply curious about your own blueprint, CircleDNA provides you with actionable, science-backed clarity.
Final Thoughts
Genetic embryo analysis is redefining what’s possible in reproductive health. It doesn’t replace love, parenting, or unpredictability—but it does add a powerful layer of information. When used responsibly, it supports the most personal of decisions with the most precise science available.
And while not every family will go through IVF, every family can benefit from understanding their genetics.
References (APA Style):
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Kumar, A., Im, K., Banjevic, M., et al. (2022). Whole-genome risk prediction in human preimplantation embryos. Nature Medicine, 28(3), 513–516.
Lencz, T., Backenroth, D., Granot-Hershkovitz, E., et al. (2021). Utility of polygenic embryo screening. eLife, 10, e64716.
Lello, L., Raben, T. G., Hsu, S. D. H. (2020). Sibling validation of polygenic scores. Scientific Reports, 10, 13190.
Fritsche, L. G., Patil, S., Beesley, L. J., et al. (2020). Cancer PRSweb repository. American Journal of Human Genetics, 107(5), 815–836.
Meyer, M. N., Tan, T., Benjamin, D. J., et al. (2023). Public views on polygenic screening of embryos. Science, 379(6632), 541–543.
