Rapid Genetic Test Could Help Personalize IVF Treatment in Under an Hour

A newly developed genetic test may help fertility specialists tailor hormone treatments for women undergoing in vitro fertilization (IVF), potentially improving outcomes while simplifying clinical workflows, says a new study.¹ Publishing their findings in Frontiers in Endocrinology, researchers detailed how their rapid point-of-care assay can identify a key genetic variant linked to how patients respond to ovarian stimulation medications, with results available in less than an hour.

The test targets a common polymorphism in the follicle-stimulating hormone receptor gene (FSHR), known as N680S, which has been shown to influence how the ovaries respond to fertility drugs used during IVF.^2-3 By quickly identifying a patient’s genetic profile, the researchers explain how clinicians may be able to select the most effective hormone therapy before treatment begins, potentially improving IVF efficiency and reducing the number of cycles needed to achieve pregnancy.

“This approach may contribute to simplifying and advancing precision medicine in assisted reproductive treatment,” wrote the researchers of their findings.

The number of patients included in the study was small, and all patients came from a single center. Future research will test the clinical impact of the assay in larger trials, including a randomized study comparing IVF outcomes in patients whose treatment is guided by the genetic test versus those receiving standard care.

Ovarian stimulation in IVF uses hormones such as recombinant FSH or human menopausal gonadotropin to stimulate the ovaries to produce multiple eggs, but patients respond differently to these treatments. Research suggests that variation in the FSH receptor gene—specifically the N680S polymorphism—can influence how sensitive the ovaries are to stimulation, with some patients responding better to one hormone type than another. As a result, genetic testing before IVF could help guide treatment selection and improve outcomes, although traditional genotyping methods are often slow, costly, and require specialized laboratory resources.

To address these limitations, researchers developed a new testing method based on loop-mediated isothermal amplification (LAMP), a technique that amplifies DNA at a constant temperature rather than cycling through multiple heating stages like traditional polymerase chain reaction (PCR). The new assay also uses a colorimetric detection system, meaning results can be interpreted visually through a color change rather than complex instrumentation.

The process begins with a cheek swab. DNA from the sample is extracted using a brief chemical treatment and then amplified using a set of specially designed primers that distinguish between the two genetic variants. Two parallel reactions are run simultaneously, one targeting the N variant and the other targeting the S variant. When the target DNA is present, the reaction mixture changes color, allowing laboratory staff to determine the genotype with the naked eye.

To validate the test, researchers evaluated its performance using both previously sequenced blood samples and real-world clinical samples. In an initial validation involving 400 blood-derived DNA samples, the assay demonstrated high concordance with standard sequencing methods. A second evaluation tested 100 buccal swab samples collected at an IVF clinic. The assay correctly genotyped 91% of these samples, achieving a sensitivity of approximately 87% and a specificity of 100%.

The researchers noted that most incorrect results occurred in samples with very low DNA concentrations, particularly among individuals carrying both variants of the gene. Despite this limitation, the test still showed strong potential for clinical use because incorrect results would not pose additional health risks compared with standard IVF treatment protocols.

One of the most significant advantages of the test is its accessibility, highlighted the researchers. Unlike many genetic assays, the LAMP-based test does not require expensive laboratory equipment. The reaction can be performed using a simple heating device such as a water bath or heating block set to a constant temperature, making it feasible even in smaller clinics or resource-limited settings.

References

1. Nilsson M, Hjelmér I, Prahl A, Nenonen H, Giwercman YL. A point-of-care assay for genotyping women prior to ovarian stimulation with recombinant or human menopausal gonadotropins in assisted reproduction. 2026;17:1697345. doi:10.3389/fendo.2026.1697345

2. Hjelmér I, Nilsson M, Henic E, et al. FSH receptor N680S genotype-guided gonadotropin choice increases cumulative pregnancy and live birth rates after in vitro fertilization. Front Endocrinol. 2025;16:1576090. doi:10.3389/fendo.2025.1576090

3. Nenonen HA, Lindgren IA, Prahl AS, et al. The N680S variant in the follicle-stimulating hormone receptor gene identifies hyperresponders to controlled ovarian stimulation. Pharrmacogenet Genomics. 2019;29(5):114-120. doi:10.1097/FPC.0000000000000374