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A closer look at expanded carrier screening from a PGD perspective

Vaz-de-Macedo, C; Harper, J; (2017) A closer look at expanded carrier screening from a PGD perspective. Human Reproduction , 32 (10) pp. 1951-1956. 10.1093/humrep/dex272. Green open access

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Abstract

Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of genetic conditions and mutations. This is now being replaced by extended panels testing for hundreds of genetic disorders with a broad range of phenotypes, in what is called ‘expanded carrier screening’. While the ultimate aim of these panels is to increase the reproductive autonomy of the individuals and couples by providing preconception knowledge that could lead to the broadest range of available options, including PGD, we argue that: (i) Given the number and heterogeneity of the conditions included in panels, it cannot be guaranteed that a couple who tests positive for one of those conditions will be eligible for PGD; patients should be informed of this potential limitation before undertaking screening. (ii) Family history is typically lacking in couples identified through panels as being at high-risk for certain disorders. This should promote a reflection on the inclusion of personal experience with a condition as a consideration for PGD in disorders with incomplete penetrance or for which treatment options are available. (iii) With the advent of next-generation sequencing panels, cases of couples in which one member carries a disease-causing variant and the other has a variant of uncertain significance found in the same gene are likely to become more common and need to be discussed from the PGD perspective. (iv) With comprehensive panels where healthy individuals are likely to be identified as carriers for several conditions, testing of carrier status for embryos and prioritisation of the embryos to transfer needs reassessing. We believe that these points should be included in the discussion on expanded carrier screening and that all stakeholders, patients included, must be aware of the challenges and limitations that may come with a positive result.

Type: Article
Title: A closer look at expanded carrier screening from a PGD perspective
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/humrep/dex272
Publisher version: https://doi.org/10.1093/humrep/dex272
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Life Sciences & Biomedicine, Obstetrics & Gynecology, Reproductive Biology, expanded carrier screening, carrier screening panels, PGD, reproductive autonomy, reproductive choice, PREIMPLANTATION GENETIC DIAGNOSIS, ESHRE TASK-FORCE, PRENATAL-DIAGNOSIS, REPRODUCTIVE MEDICINE, CURRENT CONTROVERSIES, INCIDENTAL FINDINGS, JEWISH POPULATION, HIGH-THROUGHPUT, ETHICS, DISORDERS
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Inst for Women's Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Inst for Women's Health > Reproductive Health
URI: http://discovery.ucl.ac.uk/id/eprint/10067434
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