Menopausal age not only affects a woman’s fertility but can have a considerable impact on her general wellbeing. For this reason, markers that could predict menopausal age have been extensively sought for but all currently proposed biomarkers for predicting menopause have several shortcomings. Menopausal age also has a strong genetic component, which is illustrated by the fact that a mother’s age at menopause is one of the best predictors for a daughter’s menopausal age.
ecent years have seen numerous studies exploring the genetic architecture of reproductive aging using a genome-wide approach and reporting variants that are connected to menopausal age. This knowledge was used to develop the Fertify test, which uses polygenic risk scores (Figure 1) for predicting the risk of early menopause and the concomitant earlier decrease in fertility. Using genetic risk profiling, it was demonstrated that women at the extremes of the genetic risk score have a ten-fold difference in their risk for earlier reproductive aging (Figure 2).
Genetic risk profiling has several advantages over conventional markers, such as robustness, stability and usability even for young women who do not show remarkable changes in hormone dynamics or have no information on their mother’s menopausal age. Researchers believe that genetic risk profiling for reproductive aging can be used to offer women evidence-based advice for family planning.
This article was supported by the European Regional Development Fund through Estonian Research Council.