Genetic test indicates best hormone treatment for IVF

A genetic oral swab test to determine which hormone treatment is best for egg maturation before IVF has been developed.

Research from Lund University, Sweden, has shown that genetic information gleaned from an oral swab test can guide clinicians in choosing the most suitable hormone treatment prior to IVF. This personalised approach relies on genomics to identify women with a particular genetic variant of the follicle stimulating hormone (FSH) receptor, and provide them with a hormone treatment that increase their chance of pregnancy and live birth.

'We see an increase in the number of pregnancies and a relative number of 38 percent more babies born among women who received hormone therapy that matched their gene variation compared with those who did not,' said leading researcher Professor Yvonne Lundberg Giwercman, and senior author of the findings published in Frontiers in Endocrinology.

During IVF treatment FSH is provided either as a biological or synthetic product. In addition to the type of FSH, different alleles of the FSH receptor – the protein onto which FSH binds – vary between people and can impact IVF success rates.

Previous research has shown that women who are heterozygous for the amino acid serine at the N680S locus of the receptor are more likely to respond to biological FSH, while women who are homozygous for the amino acid asparagine at the same locus responded well to synthetic FSH.

'Around 75 per cent of all attempts fail and up to 20 percent of women experience side effects, some serious enough to require emergency treatment. The choice of hormone therapy is a contributing factor, and a major challenge is that healthcare today to some extent has to guess which treatment is best for the woman,' said researcher Dr Ida Hjelmér, first author of the paper.

The researchers recruited nearly 1500 women from Skåne University Hospital in Malmö, Sweden, for this study. Out of them, 475 women were genotyped with the oral swab test, and others were treated as controls. Out of the genotyped women, 221 were treated with the hormone depending on the genetic variant they possessed. The researchers observed a significantly higher chance of pregnancy (51 percent) in the genotyped women.

'Our hope is that this will reduce the risk of suffering for women, increase the number of successful treatments and cut costs for taxpayers. Our goal is for the test to be available by the start of 2026,' added Professor Lundberg Giwercman.

While this study has multiple strengths, the researchers also highlighted its limitations. The study excluded women with pathologies including endometriosis and polycystic ovary syndrome, and has not investigated the risk of miscarriages due to the genotype-based hormone treatment.