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The Influence of Social Determinants of Health on the Genetic Diagnostic Odyssey: Who Remains Undiagnosed, Why, and to What Effect?
Although Mendelian genetic disorders are individually rare, they are collectively more common and contribute disproportionately to pediatric morbidity and mortality. Remarkable advances in the last decade have led to identification of the precise genetic variants responsible for many of these condit...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7897209/ https://www.ncbi.nlm.nih.gov/pubmed/32932427 http://dx.doi.org/10.1038/s41390-020-01151-5 |
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author | Fraiman, Yarden S. Wojcik, Monica H. |
author_facet | Fraiman, Yarden S. Wojcik, Monica H. |
author_sort | Fraiman, Yarden S. |
collection | PubMed |
description | Although Mendelian genetic disorders are individually rare, they are collectively more common and contribute disproportionately to pediatric morbidity and mortality. Remarkable advances in the last decade have led to identification of the precise genetic variants responsible for many of these conditions. Confirming the molecular diagnosis through genetic testing allows for individualized treatment plans in addition to ending the diagnostic odyssey, which not only halts further unnecessary testing but also may result in immense psychological benefit, leading to improved quality of life. However, ensuring equitable application of these advances in genomic technology has been challenging. Though prior studies have revealed disparities in testing for genetic predisposition to cancer in adults, little is known about the prevalence and nature of disparities in diagnostic testing in the pediatric rare disease population. While it seems logical those with impaired access to healthcare would be less likely to receive the genetic testing needed to end their odyssey, few studies have addressed this question directly and the potential impact on health outcomes. This review synthesizes the available evidence regarding disparities in pediatric genetic diagnosis, defining the need for further, prospective studies with the ultimate goal of delivering precision medicine to all who stand to benefit. |
format | Online Article Text |
id | pubmed-7897209 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
record_format | MEDLINE/PubMed |
spelling | pubmed-78972092021-03-15 The Influence of Social Determinants of Health on the Genetic Diagnostic Odyssey: Who Remains Undiagnosed, Why, and to What Effect? Fraiman, Yarden S. Wojcik, Monica H. Pediatr Res Article Although Mendelian genetic disorders are individually rare, they are collectively more common and contribute disproportionately to pediatric morbidity and mortality. Remarkable advances in the last decade have led to identification of the precise genetic variants responsible for many of these conditions. Confirming the molecular diagnosis through genetic testing allows for individualized treatment plans in addition to ending the diagnostic odyssey, which not only halts further unnecessary testing but also may result in immense psychological benefit, leading to improved quality of life. However, ensuring equitable application of these advances in genomic technology has been challenging. Though prior studies have revealed disparities in testing for genetic predisposition to cancer in adults, little is known about the prevalence and nature of disparities in diagnostic testing in the pediatric rare disease population. While it seems logical those with impaired access to healthcare would be less likely to receive the genetic testing needed to end their odyssey, few studies have addressed this question directly and the potential impact on health outcomes. This review synthesizes the available evidence regarding disparities in pediatric genetic diagnosis, defining the need for further, prospective studies with the ultimate goal of delivering precision medicine to all who stand to benefit. 2020-09-15 2021-01 /pmc/articles/PMC7897209/ /pubmed/32932427 http://dx.doi.org/10.1038/s41390-020-01151-5 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
spellingShingle | Article Fraiman, Yarden S. Wojcik, Monica H. The Influence of Social Determinants of Health on the Genetic Diagnostic Odyssey: Who Remains Undiagnosed, Why, and to What Effect? |
title | The Influence of Social Determinants of Health on the Genetic Diagnostic Odyssey: Who Remains Undiagnosed, Why, and to What Effect? |
title_full | The Influence of Social Determinants of Health on the Genetic Diagnostic Odyssey: Who Remains Undiagnosed, Why, and to What Effect? |
title_fullStr | The Influence of Social Determinants of Health on the Genetic Diagnostic Odyssey: Who Remains Undiagnosed, Why, and to What Effect? |
title_full_unstemmed | The Influence of Social Determinants of Health on the Genetic Diagnostic Odyssey: Who Remains Undiagnosed, Why, and to What Effect? |
title_short | The Influence of Social Determinants of Health on the Genetic Diagnostic Odyssey: Who Remains Undiagnosed, Why, and to What Effect? |
title_sort | influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect? |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7897209/ https://www.ncbi.nlm.nih.gov/pubmed/32932427 http://dx.doi.org/10.1038/s41390-020-01151-5 |
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