Personalized medicine is a growing trend across multiple medical specialties, and it has a place in reproductive medicine as well. As research uncovers more about genes and their role in how patients respond to different treatments or interventions, patients with infertility may begin to benefit from tailored approaches to their issues. Personalization is a growing trend within reproductive medicine that allows you to offer your patients even higher quality, more individualized care.
What Is Personalized Reproductive Medicine?
Exact definitions for personalized medicine vary, and the term is often used interchangeably with precision medicine. In general, personalization means tailoring treatments to a specific patient, whether based on genetic tests, the presence of biomarkers or other phenotypic findings. Personalization can also be based on patient preferences, observed responses to treatment or specific symptoms.
A vast array of factors affect fertility, implantation and live birth; some, like tubal blockages, can be treated before a patient attempts to conceive. Others, such as advanced maternal age, cannot be altered. As part of an infertility workup or before recommending IVF, screening for biomarkers or certain genetic signs can help ensure that the patient is in the best position to receive favorable results.
IVF is expensive, physically demanding and emotionally challenging. Performing some — or all — of these tests upfront allows you to develop the most precise treatment plan tailored to your patient's health concerns, biology and genetic makeup and set them up for the best chance of a successful cycle.
Many potentially useful biomarkers exist that could aid in determining a treatment path for patients with infertility. Some, such as the anti-Müllerian hormone (often done in conjunction with an antral follicle count), are already well known and used to screen for conditions such as diminished ovarian reserve. Other biomarkers may help differentiate between subfertile and infertile patients.
Select studies have identified biomarkers that point toward polycystic ovarian syndrome (serum miR-21) and atypical hyperplasia (SOX1, HS3ST2 and AJAP1). While this research is still emerging, clinicians should use ultrasound screenings in conjunction with biomarkers for a more definitive diagnosis of issues such as PCOS.
Fertility-related biomarkers are also important for male partners or donors. Semen analysis that takes a more detailed look at the sperm genome can help gauge the likelihood of fertilization. For example, the concentration of seminal plasma proteins such as TEX101 and ECM1 can predict azoospermia, according research published in Clinical and Experimental Reproductive Medicine (CERM).
Finally, biomarkers can warn clinicians of problems even after a patient becomes pregnant. For instance, according to the CERM review, lower levels of the hormone relaxin may indicate a tubal ectopic pregnancy.
Endometrial Receptivity Array
Determining the timing of implantation is another area of IVF with potential for personalization. For patients who have experienced recurrent implantation failure, an endometrial receptivity array can provide more precise timing.
Once thought to be a standard time frame, the window of implantation can be personalized to the patient based on their genetic signature. This can improve the chances of implantation and live birth, according to research published in Human Reproduction Update.
Genetic testing for embryos is also an important part of personalized medicine. Preimplantation genetic testing can reduce the chances of miscarriage by ensuring that eggs with genetic abnormalities do not get implanted.
Biomarker research shows promise, but more research is still needed before a patient's personal reproductive journey can be mapped out solely with genetic information. In the meantime, clinicians should use a combination of genetic and hormone testing alongside ultrasound screening to plan the best treatment route for each individual patient.