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3.4 Genomics in reproductive medicine

These resources have been reviewed by a panel of consultants and trainees. Quotes have been provided by this panel.

3.4.1 Genomics and genome editing: What every reproductive medicine specialist needs to know


The first of two presentations from the 2021 RCOG/BFS course on Subfertility and Assisted Conception. Professor Peter Braude, Chair RCOG Genomics Taskforce and Emeritus Professor of Obstetrics and Gynaecology, King’s College London, traces the history of genomics and personalised medicine and how it has – and will – continue to transform health provision in the UK NHS, and particularly its current and future impact on reproductive medicine through Transgenerational Genomics. 

3.4.2 Current status and role of Preimplantation Genetic Testing (PGT)


An in-depth lecture from 2017 by Professor Dagan Wells (Oxford Biomedical Centre and Reprogenetics) discussing the various technologies which have been used in PGD (PGT-M) and PGS (PGT-A) including the use of NGS and karyomapping. Although some of these technologies are now less frequently-used, as genomics advances it provides a useful overview of the potential of PGT.

3.4.3 An alternative view of the usefulness of PGT-A

Norbert Gleicher from his Center for Human Reproduction, USA explains why he believes preimplantation genetic testing for aneuploidy (PGT-A; formerly preimplantation screening - PGS) is harmful for poor prognosis IVF patients. Although a contentious figure with equally controversial views, he provides an alternative take on the expanding implementation of PGT-A in IVF clinics.

3.4.4 Editing the Human Germline: So near yet so far


Lifetime achievement award lecture ASRM 2018.

Professor Eli Adashi, eminent reproductive clinician scientist from Brown University USA, writes prolifically on modern reproductive genetics and its ethical implications.

Professor Adashi presents a broad overview from the introduction of genomics to reproductive medicine to its potential for modifying the human genome.


Lecture begins at 2:40. Please click to view the video on Youtube:

3.4.5 Next Generation Sequencing (NGS) in Reproductive Medicine


Prof Yuval Yaron explains the broad use of NGS and its clinical impact in reproductive medicine. It includes a basic description of NGS, whole exome and genome sequencing, and touches on NIPT and carrier screening and an provides an overview of PGT.