Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach
<p dir="ltr">As next-generation sequencing (NGS) has become more widely used, germline and rare genetic variations responsible for inherited illnesses, including cancer predisposition syndromes (CPSs) that account for up to 10% of childhood malignancies, have been found. The CPSs are...
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2024
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| _version_ | 1864513509739462656 |
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| author | BalaSubramani Gattu Linga (19325617) |
| author2 | Sawsan G. A. A. Mohammed (19325620) Thomas Farrell (3933833) Hilal Al Rifai (11619468) Nader Al-Dewik (4166527) M. Walid Qoronfleh (14153088) |
| author2_role | author author author author author |
| author_facet | BalaSubramani Gattu Linga (19325617) Sawsan G. A. A. Mohammed (19325620) Thomas Farrell (3933833) Hilal Al Rifai (11619468) Nader Al-Dewik (4166527) M. Walid Qoronfleh (14153088) |
| author_role | author |
| dc.creator.none.fl_str_mv | BalaSubramani Gattu Linga (19325617) Sawsan G. A. A. Mohammed (19325620) Thomas Farrell (3933833) Hilal Al Rifai (11619468) Nader Al-Dewik (4166527) M. Walid Qoronfleh (14153088) |
| dc.date.none.fl_str_mv | 2024-05-26T09:00:00Z |
| dc.identifier.none.fl_str_mv | 10.3390/cancers16112017 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Genomic_Newborn_Screening_for_Pediatric_Cancer_Predisposition_Syndromes_A_Holistic_Approach/26490859 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Paediatrics newborn screening cancer predisposition syndromes gene panel pediatric cancer genetic predisposition cancer genetics NGS |
| dc.title.none.fl_str_mv | Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">As next-generation sequencing (NGS) has become more widely used, germline and rare genetic variations responsible for inherited illnesses, including cancer predisposition syndromes (CPSs) that account for up to 10% of childhood malignancies, have been found. The CPSs are a group of germline genetic disorders that have been identified as risk factors for pediatric cancer development. Excluding a few “classic” CPSs, there is no agreement regarding when and how to conduct germline genetic diagnostic studies in children with cancer due to the constant evolution of knowledge in NGS technologies. Various clinical screening tools have been suggested to aid in the identification of individuals who are at greater risk, using diverse strategies and with varied outcomes. We present here an overview of the primary clinical and molecular characteristics of various CPSs and summarize the existing clinical genomics data on the prevalence of CPSs in pediatric cancer patients. Additionally, we discuss several ethical issues, challenges, limitations, cost-effectiveness, and integration of genomic newborn screening for CPSs into a healthcare system. Furthermore, we assess the effectiveness of commonly utilized decision-support tools in identifying patients who may benefit from genetic counseling and/or direct genetic testing. This investigation highlights a tailored and systematic approach utilizing medical newborn screening tools such as the genome sequencing of high-risk newborns for CPSs, which could be a practical and cost-effective strategy in pediatric cancer care.</p><h2>Other Information</h2><p dir="ltr">Published in: Cancers<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3390/cancers16112017" target="_blank">https://dx.doi.org/10.3390/cancers16112017</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_4b4d8c14c7579ee7f388b38dc675565d |
| identifier_str_mv | 10.3390/cancers16112017 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/26490859 |
| publishDate | 2024 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic ApproachBalaSubramani Gattu Linga (19325617)Sawsan G. A. A. Mohammed (19325620)Thomas Farrell (3933833)Hilal Al Rifai (11619468)Nader Al-Dewik (4166527)M. Walid Qoronfleh (14153088)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesPaediatricsnewborn screeningcancer predisposition syndromesgene panelpediatric cancergenetic predispositioncancer geneticsNGS<p dir="ltr">As next-generation sequencing (NGS) has become more widely used, germline and rare genetic variations responsible for inherited illnesses, including cancer predisposition syndromes (CPSs) that account for up to 10% of childhood malignancies, have been found. The CPSs are a group of germline genetic disorders that have been identified as risk factors for pediatric cancer development. Excluding a few “classic” CPSs, there is no agreement regarding when and how to conduct germline genetic diagnostic studies in children with cancer due to the constant evolution of knowledge in NGS technologies. Various clinical screening tools have been suggested to aid in the identification of individuals who are at greater risk, using diverse strategies and with varied outcomes. We present here an overview of the primary clinical and molecular characteristics of various CPSs and summarize the existing clinical genomics data on the prevalence of CPSs in pediatric cancer patients. Additionally, we discuss several ethical issues, challenges, limitations, cost-effectiveness, and integration of genomic newborn screening for CPSs into a healthcare system. Furthermore, we assess the effectiveness of commonly utilized decision-support tools in identifying patients who may benefit from genetic counseling and/or direct genetic testing. This investigation highlights a tailored and systematic approach utilizing medical newborn screening tools such as the genome sequencing of high-risk newborns for CPSs, which could be a practical and cost-effective strategy in pediatric cancer care.</p><h2>Other Information</h2><p dir="ltr">Published in: Cancers<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3390/cancers16112017" target="_blank">https://dx.doi.org/10.3390/cancers16112017</a></p>2024-05-26T09:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.3390/cancers16112017https://figshare.com/articles/journal_contribution/Genomic_Newborn_Screening_for_Pediatric_Cancer_Predisposition_Syndromes_A_Holistic_Approach/26490859CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/264908592024-05-26T09:00:00Z |
| spellingShingle | Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach BalaSubramani Gattu Linga (19325617) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Paediatrics newborn screening cancer predisposition syndromes gene panel pediatric cancer genetic predisposition cancer genetics NGS |
| status_str | publishedVersion |
| title | Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach |
| title_full | Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach |
| title_fullStr | Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach |
| title_full_unstemmed | Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach |
| title_short | Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach |
| title_sort | Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Paediatrics newborn screening cancer predisposition syndromes gene panel pediatric cancer genetic predisposition cancer genetics NGS |