Pharmacogenomics of embryology and endometrium in ART

Vitaliy Radko continues the pharmacogenomics theme, shifting the focus from ovarian response to the genetics of the gametes and the endometrium — and to when mutation testing actually changes strategy.

The talk's frame is standardisation versus personalisation: uniform protocols are convenient, but in some patients it is precisely the genetic profile that explains why the "standard" does not work.

Radko outlines the scale: the infertility gene panel comprises about 180 identified genes, of which roughly 30 are validated for clinical use. The rest is a research zone.

The practical target is the same POSEIDON 1–2 groups with a suboptimal response, making up roughly 15–20% of patients; for them genetic testing yields the greatest return.

A separate block is estrogen-receptor polymorphisms. Radko cites the Belen Lledó study (Instituto Bernabeu) linking an ESR1 variant to response quality.

In particular, the ESR1 TT genotype is associated with an optimal response in oocyte donors — an example of how a single polymorphism can predict ovarian behaviour.

Progesterone-receptor polymorphisms are also considered in the context of endometrial receptivity: genetics affects not only stimulation but the endometrium's readiness for implantation.

A key clinical thread is the WEE2 gene as a genetic cause of total fertilization failure after ICSI: when oocytes are present but no fertilization occurs at all.

Linked to this is empty follicle syndrome — Radko distinguishes the true from the false: some cases are explained by trigger-administration technique, others by a real genetic cause.