With healthcare reform’s emphasis on preventative care, strategies to deliver efficient and effective treatment are becoming a necessity in a climate where reimbursement dollars are in decline. Since the completion of the Human Genome Project in 2003 and continued advancement in sequencing technologies, the idea that medical care can be tailored to an individual’s genetic make-up is within reach, and several fields are making significant progress individualizing preventative and therapeutic treatments.
How has the field of reproductive medicine been affected by this genetic revolution? While significant advancements have been made since the birth of Louise Brown—the first test tube baby born in 1978—there still is plenty of room to improve the efficiency of the in vitro fertilization (IVF) process. Success rates have improved dramatically over the years, but a significant number of couples who undergo extensive diagnostic testing never receive clarity to explain their infertility. One could imagine that a reproductive specialist armed with extensive information about a couple’s health history, family history, lifestyle choices, and genotype could conceivably tailor a fertility treatment protocol that would exceed traditional clinical practice in efficacy and efficiency. Great strides are being made towards realizing this paradigm.
A morning Symposium on Wednesday, “A Revolution in Reproduction: How Emerging Technologies are Personalizing Procreation,” assessed these trends. Presented by Robert Nerenz, PhD, and Ann Gronowski, PhD, the symposium reviewed emerging technologies with great promise for improving all aspects of reproductive medicine. Nerenz began the symposium by discussing the current state of IVF technologies and their inherent limitations, primarily in embryo selection. He described comprehensive chromosome screening to select euploid embryos, which is showing the most promise to date. Next, he reviewed metabolic profiling of spent embryo culture medium and endometrial gene expression analysis, a method that can determine the optimal window of implantation. While relatively invasive, this technology offers hope to couples with repeated cycle failures. Nerenz presented data from one small study showing that endometrial receptivity profiling improved pregnancy rates by 50% in a population of patients who had at least five failed IVF cycles.
Gronowski complemented this presentation with a discussion of personalized medicine during pregnancy. She highlighted studies that suggest genotype testing may be able to predict a woman’s response to medicines used to control hyperemesis, as well as drugs prescribed for pre-term labor. Next she described how cell-free fetal DNA analysis is being used to predict RhD genotype and to screen for chromosomal abnormalities. Perhaps the best example of personalized medicine during pregnancy, analysis for RhD directly impacts patient care by affecting which patients are treated with anti-D immunotherapy. Interestingly, this testing is used primarily in Europe, not the US. Finally, Gronowski discussed some potentially new uses for hCG testing. Specifically, hyperglycosylated hCG shows promise for predicting fetal viability, and semi-quantitative hCG tests could replace clinic follow-up after medical abortion.