PGT-P (Coming Soon)
Preimplantation Genetic Testing for Polygenic Disorders
What is this test?
PGT-P is an emerging technology that evaluates embryos for their relative risk of developing complex conditions influenced by many genes — including heart disease, type 2 diabetes, certain cancers, and psychiatric conditions. Unlike PGT-A (which looks at whole chromosomes) or PGT-M (which targets a single gene), PGT-P uses polygenic risk scores (PRS) calculated from thousands of genetic variants to rank embryos by relative disease risk. This is a rapidly evolving area of reproductive genetics.
Key Benefits
Addresses the genetic component of common diseases that affect millions of people worldwide but are missed by traditional PGT-M.
By selecting embryos with lower polygenic risk, couples may reduce disease risk in their children compared to random selection.
Works alongside standard aneuploidy screening, adding another layer of information to embryo selection.
Uses the latest machine learning models and large-scale genome-wide association study (GWAS) data for risk calculation.
How It Works
Trophectoderm biopsy is performed on Day 5/6 blastocysts. PGT-P is typically added alongside PGT-A using the same biopsy sample.
Embryo DNA undergoes high-density SNP genotyping, capturing hundreds of thousands to millions of genetic variants.
AI algorithms calculate polygenic risk scores for selected conditions, combining the effect of thousands of variants into relative risk estimates.
Embryos are ranked by relative risk compared to each other — not by absolute disease prediction. This helps prioritize which euploid embryos to transfer first.
Results are reviewed with a genetic counselor who explains the probabilistic nature of PRS, its limitations, and how it integrates with PGT-A results.
Who should consider this test?
- Couples with strong family history of polygenic conditions (heart disease, diabetes, schizophrenia)
- Patients already undergoing IVF with PGT-A who want additional risk information
- Individuals interested in cutting-edge predictive genetic technology
- Couples seeking to minimize polygenic disease risk in their future children
Accuracy & Clinical Evidence
Polygenic risk scoring is well-established in population genetics research, with large GWAS studies identifying thousands of variants associated with common diseases. Application to embryo selection is newer and the subject of ongoing clinical validation studies. Professional societies including ASRM and ESHRE have issued position statements acknowledging the potential while emphasizing the need for careful counseling about limitations.
For Healthcare Providers
PGT-P utilizes high-density SNP genotyping of amplified trophectoderm DNA, followed by polygenic risk score calculation using validated GWAS summary statistics. Scores are computed for selected conditions and reported as relative risk rankings among sibling embryos. PRS accuracy is population-dependent and performs best for individuals of European ancestry due to current GWAS data composition. PGT-P results are probabilistic risk estimates, not diagnostic predictions, and should be interpreted within the context of family history and genetic counseling.
Important Limitations
- PGT-P provides relative risk ranking, not absolute disease prediction — an embryo ranked 'lower risk' can still develop the condition.
- Polygenic risk scores are most accurate for populations well-represented in GWAS data (primarily European ancestry) and may be less predictive for other populations.
- Environmental and lifestyle factors play a major role in polygenic diseases and are not captured by genetic testing.
- PGT-P is an emerging technology and is not yet endorsed as standard of care by major professional societies.
- This service is currently in development at IMC Genomics — contact us for availability timeline.
Frequently Asked Questions
Test Details
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