Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges

Albujja, Mohammed H.; Al-Ghedan, Maher; Dakshnamoorthy, Lakshmidevi; Pla Victori, Josep

doi:10.1016/j.cpt.2023.05.002

Cited by 4 publications

(3 citation statements)

References 107 publications

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“…The evolution of PGT methods, progressing from FISH to advanced techniques such as aCGH, SNP arrays, and NGS, has introduced new challenges concerning accuracy, result interpretation, and clinical validation [48]. Beyond technical hurdles, ongoing debates revolve around the impact of PGT on pregnancy outcomes and ethical considerations associated with selecting embryos based on genetic testing methods.…”

Section: Technical Challenges and Limitations Of Current Pgt Methodsmentioning

confidence: 99%

Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review

Gudapati,

Chaudhari,

Shrivastava

et al. 2024

Cureus

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Preimplantation genetic testing (PGT) has become an integral component of assisted reproductive technology (ART), offering couples the opportunity to screen embryos for genetic abnormalities before implantation during in vitro fertilization (IVF). This comprehensive review explores the advancements and applications of PGT in IVF, covering its various types, technological developments, clinical applications, efficacy, challenges, regulatory aspects, and future directions. The evolution of PGT techniques, including next-generation sequencing (NGS) and comparative genomic hybridization (CGH), has significantly enhanced the accuracy and reliability of genetic testing in embryos. PGT holds profound implications for the future of ART by improving IVF success rates, reducing the incidence of genetic disorders, and mitigating the emotional and financial burdens associated with failed pregnancies and genetic diseases. Recommendations for clinicians, researchers, and policymakers include staying updated on the latest PGT techniques and guidelines, exploring innovative technologies, establishing clear regulatory frameworks, and fostering collaboration to maximize the potential benefits of PGT in assisted reproduction. Overall, this review provides valuable insights into the current state of PGT and its implications for the field of reproductive medicine.

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Section: Technical Challenges and Limitations Of Current Pgt Methodsmentioning

confidence: 99%

Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review

Gudapati,

Chaudhari,

Shrivastava

et al. 2024

Cureus

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“…Over the years, PGT has evolved from an experimental procedure to a commonly used technique in clinical practice, as an alternative to invasive prenatal diagnosis for couples planning a pregnancy [30]. Different protocols have been proposed and validated, each with its own merits and limitations, but the fundamental steps of the technique generally involve the biopsy of one or more cells from the embryo, the search for any genetic abnormalities in the sample and the selective transfer of alteration-free embryos into the mother's uterus [31,32].…”

Section: Pgt-mmentioning

confidence: 99%

“…However, ethical issues have been raised about the legitimacy of applying PGT-M for CPSs [30]. The reasons are mainly related to the incomplete penetrance and variable expressivity of these conditions, as well as the availability of surveillance programs aimed at reducing the mortality and morbidity of affected patients.…”

Section: Rechitsky Et Al Extended the Technique To Couples With Famil...mentioning

confidence: 99%

Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes

Calosci,

Passaglia,

Gabbiato

et al. 2023

Genes

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Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime risk of developing cancer. In this article, we provide an overview of the reproductive options for patients diagnosed with CPS, focusing on the emerging role of Preimplantation Genetic Testing for Monogenic disorders (PGT-M). Specifically, we conducted a literature review about the awareness and acceptability of its application to CPSs. Based on the available data, the awareness of the applicability of PGT-M for CPSs appears to be limited among both patients and physicians, and a heterogeneous set of factors seems to influence the acceptability of the procedure. Our findings highlight the need for increasing education about the use of PGT-M for CPSs. In this context, guidelines developed by professional or institutional bodies would represent a useful reference tool to assist healthcare professionals in providing proper preconception counseling.

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Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations

Capalbo,

de Wert,

Mertes

et al. 2024

Human Reproduction Update

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BACKGROUND The genetic composition of embryos generated by in vitro fertilization (IVF) can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited to detecting single-gene, high-risk pathogenic variants, large structural variants, and aneuploidy. Recent advances have made genome-wide genotyping of IVF embryos feasible and affordable, raising the possibility of screening embryos for their risk of polygenic diseases such as breast cancer, hypertension, diabetes, or schizophrenia. Despite a heated debate around this new technology, called polygenic embryo screening (PES; also PGT-P), it is already available to IVF patients in some countries. Several articles have studied epidemiological, clinical, and ethical perspectives on PES; however, a comprehensive, principled review of this emerging field is missing. OBJECTIVE AND RATIONALE This review has four main goals. First, given the interdisciplinary nature of PES studies, we aim to provide a self-contained educational background about PES to reproductive specialists interested in the subject. Second, we provide a comprehensive and critical review of arguments for and against the introduction of PES, crystallizing and prioritizing the key issues. We also cover the attitudes of IVF patients, clinicians, and the public towards PES. Third, we distinguish between possible future groups of PES patients, highlighting the benefits and harms pertaining to each group. Finally, our review, which is supported by ESHRE, is intended to aid healthcare professionals and policymakers in decision-making regarding whether to introduce PES in the clinic, and if so, how, and to whom. SEARCH METHODS We searched for PubMed-indexed articles published between 1/1/2003 and 1/3/2024 using the terms ‘polygenic embryo screening’, ‘polygenic preimplantation’, and ‘PGT-P’. We limited the review to primary research papers in English whose main focus was PES for medical conditions. We also included papers that did not appear in the search but were deemed relevant. OUTCOMES The main theoretical benefit of PES is a reduction in lifetime polygenic disease risk for children born after screening. The magnitude of the risk reduction has been predicted based on statistical modelling, simulations, and sibling pair analyses. Results based on all methods suggest that under the best-case scenario, large relative risk reductions are possible for one or more diseases. However, as these models abstract several practical limitations, the realized benefits may be smaller, particularly due to a limited number of embryos and unclear future accuracy of the risk estimates. PES may negatively impact patients and their future children, as well as society. The main personal harms are an unindicated IVF treatment, a possible reduction in IVF success rates, and patient confusion, incomplete counselling, and choice overload. The main possible societal harms include discarded embryos, an increasing demand for ‘designer babies’, overemphasis of the genetic determinants of disease, unequal access, and lower utility in people of non-European ancestries. Benefits and harms will vary across the main potential patient groups, comprising patients already requiring IVF, fertile people with a history of a severe polygenic disease, and fertile healthy people. In the United States, the attitudes of IVF patients and the public towards PES seem positive, while healthcare professionals are cautious, sceptical about clinical utility, and concerned about patient counselling. WIDER IMPLICATIONS The theoretical potential of PES to reduce risk across multiple polygenic diseases requires further research into its benefits and harms. Given the large number of practical limitations and possible harms, particularly unnecessary IVF treatments and discarded viable embryos, PES should be offered only within a research context before further clarity is achieved regarding its balance of benefits and harms. The gap in attitudes between healthcare professionals and the public needs to be narrowed by expanding public and patient education and providing resources for informative and unbiased genetic counselling.

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Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges

Cited by 4 publications

References 107 publications

Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review

Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review

Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes

Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations

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