Pharmacogenomics in Reproductive Medicine: From Genetic Code to Outcome

Why do standard FSH doses produce different results within the same demographic group? The answer lies in the genetics of the follicular apparatus. This lecture explores FSH receptor pharmacogenomics as a practical tool for individualizing ART stimulation — moving from an «average dose for everyone» to a targeted protocol based on the patient's genetic profile.

FSH receptor polymorphisms

FSH receptor polymorphisms determine the sensitivity of the follicular apparatus to exogenous FSH. Different genotypes call for different approaches to the starting dose and drug selection — from classical recombinant FSH to urinary FSH with stronger LH activity. The methodological distinction between mutations (complete loss of function) and polymorphisms (fine-tuning of the receptor) shapes how these markers are read in practice.

POSEIDON 1-2 and the FOI index

POSEIDON 1-2 defines «predicted poor responders» — younger patients with adequate ovarian reserve but a paradoxically weak response. The FOI index quantifies the gap between follicle count and oocytes retrieved. Combined with the genetic receptor profile, this shifts practice from an «average dose for everyone» to a targeted protocol — drug selection, starting dose, and adjunctive LH.

Ethnic specificity and LH supplementation

Current consensus statements confirm the role of LH supplementation for specific patient populations. A separate important aspect is the ethnic specificity of genetic markers: the same polymorphisms have different clinical significance across populations. This drives the need for local polymorphism maps. AI prediction models based on a panel of polymorphisms reach practical accuracy sufficient for routine clinical use.