Professionals’ views on providing personalized recurrence risks for de novo mutations: implications for genetic counseling
When an apparent de novo (new) genetic change has been identified as the cause of a serious genetic condition in a child, many couples would like to know the risk of this happening again in a future pregnancy. Current practice provides families with a population average risk of 1-2%. However, this f...
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Format: | Journal article |
Language: | English |
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Wiley
2024
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_version_ | 1811140378625048576 |
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author | Kay, A Wells, J Hallowell, N Goriely, A |
author_facet | Kay, A Wells, J Hallowell, N Goriely, A |
author_sort | Kay, A |
collection | OXFORD |
description | When an apparent de novo (new) genetic change has been identified as the cause of a serious genetic condition in a child, many couples would like to know the risk of this happening again in a future pregnancy. Current practice provides families with a population average risk of 1-2%. However, this figure is not accurate for any specific couple, and yet, they are asked to make decisions about having another child and/or whether to have prenatal testing. The PREcision Genetic Counselling And REproduction (PREGCARE) study is a new personalized assessment strategy that refines a couple’s recurrence risk prior to a new pregnancy, by analysing several samples from the parent-child trio (blood, saliva, swabs and father’s sperm) using Deep-Sequencing and haplotyping. Overall, this approach can reassure ~2/3 of couples who have a negligible (<0.1%) recurrence risk and focus support on those at higher risk (i.e. when mosaicism is identified in one of the parents). Here we present a qualitative interview study with UK clinical genetics professionals (n=20), which investigate the potential implications of introducing such a strategy in genetics clinics. While thematic analysis of the interviews indicated perceived clinical utility, it also indicates a need to prepare couples for the psychosocial implications of parent-of-origin information and to support their understanding of the assessment being offered. When dealing with personalized reproductive risk, a traditional non-directive approach may not meet the needs of practitioner and client(s) and shared decision-making provides an additional framework that may relieve some patient burden. Further qualitative investigation with couples is planned. |
first_indexed | 2024-09-25T04:21:02Z |
format | Journal article |
id | oxford-uuid:c14007cf-f15b-4648-a012-f639ec833c70 |
institution | University of Oxford |
language | English |
last_indexed | 2024-09-25T04:21:02Z |
publishDate | 2024 |
publisher | Wiley |
record_format | dspace |
spelling | oxford-uuid:c14007cf-f15b-4648-a012-f639ec833c702024-08-01T14:47:16ZProfessionals’ views on providing personalized recurrence risks for de novo mutations: implications for genetic counselingJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:c14007cf-f15b-4648-a012-f639ec833c70EnglishSymplectic ElementsWiley2024Kay, AWells, JHallowell, NGoriely, AWhen an apparent de novo (new) genetic change has been identified as the cause of a serious genetic condition in a child, many couples would like to know the risk of this happening again in a future pregnancy. Current practice provides families with a population average risk of 1-2%. However, this figure is not accurate for any specific couple, and yet, they are asked to make decisions about having another child and/or whether to have prenatal testing. The PREcision Genetic Counselling And REproduction (PREGCARE) study is a new personalized assessment strategy that refines a couple’s recurrence risk prior to a new pregnancy, by analysing several samples from the parent-child trio (blood, saliva, swabs and father’s sperm) using Deep-Sequencing and haplotyping. Overall, this approach can reassure ~2/3 of couples who have a negligible (<0.1%) recurrence risk and focus support on those at higher risk (i.e. when mosaicism is identified in one of the parents). Here we present a qualitative interview study with UK clinical genetics professionals (n=20), which investigate the potential implications of introducing such a strategy in genetics clinics. While thematic analysis of the interviews indicated perceived clinical utility, it also indicates a need to prepare couples for the psychosocial implications of parent-of-origin information and to support their understanding of the assessment being offered. When dealing with personalized reproductive risk, a traditional non-directive approach may not meet the needs of practitioner and client(s) and shared decision-making provides an additional framework that may relieve some patient burden. Further qualitative investigation with couples is planned. |
spellingShingle | Kay, A Wells, J Hallowell, N Goriely, A Professionals’ views on providing personalized recurrence risks for de novo mutations: implications for genetic counseling |
title | Professionals’ views on providing personalized recurrence risks for de novo mutations: implications for genetic counseling |
title_full | Professionals’ views on providing personalized recurrence risks for de novo mutations: implications for genetic counseling |
title_fullStr | Professionals’ views on providing personalized recurrence risks for de novo mutations: implications for genetic counseling |
title_full_unstemmed | Professionals’ views on providing personalized recurrence risks for de novo mutations: implications for genetic counseling |
title_short | Professionals’ views on providing personalized recurrence risks for de novo mutations: implications for genetic counseling |
title_sort | professionals views on providing personalized recurrence risks for de novo mutations implications for genetic counseling |
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