Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners
<p><strong>Background:</strong> Diagnosis of a child with a genetic condition leads to parents asking whether there is a risk the condition could occur again with future pregnancies. If the cause is identified as an apparent de novo mutation (DNM), couples are currently gi...
| Үндсэн зохиолчид: | , , , |
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| Формат: | Journal article |
| Хэл сонгох: | English |
| Хэвлэсэн: |
BMJ Publishing Group
2023
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| _version_ | 1826311556530438144 |
|---|---|
| author | Kay, AC Wells, J Hallowell, N Goriely, A |
| author_facet | Kay, AC Wells, J Hallowell, N Goriely, A |
| author_sort | Kay, AC |
| collection | OXFORD |
| description | <p><strong>Background:</strong> Diagnosis of a child with a genetic condition leads to parents asking whether there is a risk the condition could occur again with future pregnancies. If the cause is identified as an apparent de novo mutation (DNM), couples are currently given a generic, population average, recurrence risk of ~1%–2%, depending on the condition. Although DNMs usually arise as one-off events, they can also originate through the process of mosaicism in either parent; in this instance, the DNM is present in multiple germ cells and the actual recurrence risk could theoretically be as high as 50%.</p>
<p><strong>Methods:</strong> Our qualitative interview study examined the views and reflections on current practice provided by UK practitioners working in clinical genetics (n=20) regarding the potential impact of PREcision Genetic Counselling And REproduction (PREGCARE)—a new preconception personalised recurrence risk assessment strategy.</p>
<p><strong>Results:</strong> Those interviewed regarded PREGCARE as a very useful addition to risk management, especially for cases where it revised the risk downwards or clarified that a couple’s personalised recurrence risk meets National Health Service thresholds for non-invasive prenatal testing, otherwise inaccessible based on the generic DNM recurrence risk.</p>
<p><strong>Conclusion:</strong> Participants said it could release some couples requiring reassurance from undergoing unnecessary invasive testing in future pregnancies. However, they regarded mosaicism and PREGCARE as complex concepts to communicate, requiring further training and additional appointment time for pre-test genetic counselling to prepare couples for all the possible outcomes of a personalised risk assessment, including potentially identifying the parental origin of the DNM, and to ensure informed consent.</p> |
| first_indexed | 2024-03-07T08:11:33Z |
| format | Journal article |
| id | oxford-uuid:bc53dd02-128c-442f-a8f6-40cd627cffbc |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T08:11:33Z |
| publishDate | 2023 |
| publisher | BMJ Publishing Group |
| record_format | dspace |
| spelling | oxford-uuid:bc53dd02-128c-442f-a8f6-40cd627cffbc2023-12-01T09:50:30ZProviding recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitionersJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:bc53dd02-128c-442f-a8f6-40cd627cffbcEnglishSymplectic ElementsBMJ Publishing Group2023Kay, ACWells, JHallowell, NGoriely, A<p><strong>Background:</strong> Diagnosis of a child with a genetic condition leads to parents asking whether there is a risk the condition could occur again with future pregnancies. If the cause is identified as an apparent de novo mutation (DNM), couples are currently given a generic, population average, recurrence risk of ~1%–2%, depending on the condition. Although DNMs usually arise as one-off events, they can also originate through the process of mosaicism in either parent; in this instance, the DNM is present in multiple germ cells and the actual recurrence risk could theoretically be as high as 50%.</p> <p><strong>Methods:</strong> Our qualitative interview study examined the views and reflections on current practice provided by UK practitioners working in clinical genetics (n=20) regarding the potential impact of PREcision Genetic Counselling And REproduction (PREGCARE)—a new preconception personalised recurrence risk assessment strategy.</p> <p><strong>Results:</strong> Those interviewed regarded PREGCARE as a very useful addition to risk management, especially for cases where it revised the risk downwards or clarified that a couple’s personalised recurrence risk meets National Health Service thresholds for non-invasive prenatal testing, otherwise inaccessible based on the generic DNM recurrence risk.</p> <p><strong>Conclusion:</strong> Participants said it could release some couples requiring reassurance from undergoing unnecessary invasive testing in future pregnancies. However, they regarded mosaicism and PREGCARE as complex concepts to communicate, requiring further training and additional appointment time for pre-test genetic counselling to prepare couples for all the possible outcomes of a personalised risk assessment, including potentially identifying the parental origin of the DNM, and to ensure informed consent.</p> |
| spellingShingle | Kay, AC Wells, J Hallowell, N Goriely, A Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners |
| title | Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners |
| title_full | Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners |
| title_fullStr | Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners |
| title_full_unstemmed | Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners |
| title_short | Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners |
| title_sort | providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child a qualitative investigation of the pregcare strategy with uk clinical genetics practitioners |
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