At the dawn of personalized reproductive medicine: opportunities and challenges with incorporating multigene panel testing into fertility care

Beim, P. Yurttas; Parfitt, David-Emlyn; Tan, Lei; Sugarman, Elaine A; Hu-Seliger, T.; Clementi, Caterina; Levy, Brynn

doi:10.1007/s10815-017-1068-2

Cited by 9 publications

(4 citation statements)

References 27 publications

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“…Genetic variants known to influence fertility have also been identified and could be used to support diagnoses or personalized intervention plans. (64)(65) Finally, adaptive trial designs have been proposed that could be used to assess the utility of personalized approaches to raising awareness about time to conception and fertility. (66)…”

Section: Emerging and Next-generation Personalized Medicine Strategiesmentioning

confidence: 99%

Personalized medicine: motivation, challenges, and progress

Goetz

Schork

2018

Fertility and Sterility

352

209

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There is a great deal of hype surrounding the concept of personalized medicine. Personalized medicine is rooted in the belief that since individuals possess nuanced and unique characteristics at the molecular, physiological, environmental exposure, and behavioral levels, they may need to have interventions provided to them for diseases they possess that are tailored to these nuanced and unique characteristics. This belief has been verified to some degree through the application of emerging technologies such as DNA sequencing, proteomics, imaging protocols, and wireless health monitoring devices, which have revealed great inter-individual variation in disease processes. In this review, we consider the motivation for personalized medicine, its historical precedents, the emerging technologies that are enabling it, some recent experiences including successes and setbacks, ways of vetting and deploying personalized medicines, and future directions, including potential ways of treating individuals with fertility and sterility issues. We also consider current limitations of personalized medicine. We ultimately argue that since aspects of personalized medicine are rooted in biological realities, personalized medicine practices in certain contexts are likely to be inevitable, especially as relevant assays and deployment strategies become more efficient and cost-effective.

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Section: Emerging and Next-generation Personalized Medicine Strategiesmentioning

confidence: 99%

Personalized medicine: motivation, challenges, and progress

Goetz

Schork

2018

Fertility and Sterility

352

209

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“…Consequently, deeper understanding of epistatic and dominance interactions between reproductive partners has a great potential to improve the accuracy of infertility diagnostics and facilitate development of more personalised diagnostic tools ( Table II ). Personalised reproductive medicine is still in its infancy, and routine clinical tests for parental genetic compatibility are lacking ( Beim et al , 2017 ). However, the rapidly decreasing costs of modern whole-genome sequencing techniques raise an important possibility of including genome-wide characterisation of incompatibility genes in future diagnostics routines.…”

Section: Clinical Significance and Future Challengesmentioning

confidence: 99%

Genetic incompatibility of the reproductive partners: an evolutionary perspective on infertility

Kekäläinen

2021

Human Reproduction

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In natural fertilisation, the female reproductive tract allows only a strictly selected sperm subpopulation to proceed in the vicinity of an unfertilised oocyte. Female-mediated sperm selection (also known as cryptic female choice (CFC)) is far from a random process, which frequently biases paternity towards particular males over others. Earlier studies have shown that CFC is a ubiquitous phenomenon in the animal kingdom and often promotes assortative fertilisation between genetically compatible mates. Here, I demonstrate that CFC for genetic compatibility likely also occurs in humans and is mediated by a complex network of interacting male and female genes. I also show that the relative contribution of genetic compatibility (i.e. the male–female interaction effect) to reproductive success is generally high and frequently outweighs the effects of individual males and females. Together, these facts indicate that, along with male- and female-dependent pathological factors, reproductive failure can also result from gamete-level incompatibility of the reproductive partners. Therefore, I argue that a deeper understanding of these evolutionary mechanisms of sperm selection can pave the way towards a more inclusive view of infertility and open novel possibilities for the development of more personalised infertility diagnostics and treatments.

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“…Aneuploidies may occur in preimplantation embryos in any of the 24 chromosomes; for women receiving ART, this occurs in approximately 60% of abnormal embryos in women younger than 35 years, and it is up to 80% in women 41 years and older (Gutiérrez-Mateo et al, 2011;Yurttas Beim et al, 2017). Aneuploidy is considered as a significant factor in implantation failure and spontaneous miscarriage; thus, it might be the critical reason for IVF failure.…”

Section: Preimplantation Genetic Diagnosis/pgs For Embryo Diagnosismentioning

confidence: 99%

Precise Personalized Medicine in Gynecology Cancer and Infertility

Zhang

Yang

2020

Front. Cell Dev. Biol.

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Since the conception of precision medicine has been put forward in oncology, this idea has been popularized and applied in many specialties. Significant progress has been made toward personalizing the entire process, including diagnosis, treatment planning, and embryo identification, and combining large-scale genetic information data and knowledge discovery can offer better prospects in reproductive medicine. This work reviews the application of precision medicine and possibilities in reproductive medicine and gynecologic cancer diagnosis and treatment. The limitations and challenges of precision medicine in this area remain to be discussed.

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At the dawn of personalized reproductive medicine: opportunities and challenges with incorporating multigene panel testing into fertility care

Cited by 9 publications

References 27 publications

Personalized medicine: motivation, challenges, and progress

Personalized medicine: motivation, challenges, and progress

Genetic incompatibility of the reproductive partners: an evolutionary perspective on infertility

Precise Personalized Medicine in Gynecology Cancer and Infertility

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