Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks
Background: Autosomal recessive Gaucher disease (GD) is likely underdiagnosed in many countries. Because the number of diagnosed GD patients in Finland is relatively low, and the true prevalence is currently not known, it was hypothesized that undiagnosed GD patients may exist in Finland. Our previo...
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ftdoajarticles:oai:doaj.org/article:b89df55e164e428891087e026837972c 2023-05-15T17:42:56+02:00 Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks Minja Pehrsson Hanna Heikkinen Ulla Wartiovaara-Kautto Sampo Mäntylahti Pia Bäckström Mariann I. Lassenius Kristiina Uusi-Rauva Olli Carpén Kaisa Elomaa 2022-12-01T00:00:00Z https://doi.org/10.1016/j.ymgmr.2022.100911 https://doaj.org/article/b89df55e164e428891087e026837972c EN eng Elsevier http://www.sciencedirect.com/science/article/pii/S2214426922000714 https://doaj.org/toc/2214-4269 2214-4269 doi:10.1016/j.ymgmr.2022.100911 https://doaj.org/article/b89df55e164e428891087e026837972c Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100911- (2022) Biobank study Electronic health record data Small nucleotide polymorphism chip genotype data Gaucher disease Gaucher earlier diagnosis consensus point-scoring system GBA Medicine (General) R5-920 Biology (General) QH301-705.5 article 2022 ftdoajarticles https://doi.org/10.1016/j.ymgmr.2022.100911 2022-12-30T22:30:38Z Background: Autosomal recessive Gaucher disease (GD) is likely underdiagnosed in many countries. Because the number of diagnosed GD patients in Finland is relatively low, and the true prevalence is currently not known, it was hypothesized that undiagnosed GD patients may exist in Finland. Our previous study demonstrated the applicability of Gaucher Earlier Diagnosis Consensus point-scoring system (GED-C PSS; Mehta et al., 2019) and Finnish biobank data and specimens in the automated point scoring of large populations. An indicative point-score range for Finnish GD patients was determined, but undiagnosed patients were not identified partly due to high number of high-score subjects in combination with a lack of suitable samples for diagnostics in the assessed biobank population. The current study extended the screening to another biobank and evaluated the feasibility of utilising the automated GED-C PSS in conjunction with small nucleotide polymorphism (SNP) chip genotype data from the FinnGen study of biobank sample donors in the identification of undiagnosed GD patients in Finland. Furthermore, the applicability of FFPE tissues and DNA restoration in the next-generation sequencing (NGS) of the GBA gene were tested. Methods: Previously diagnosed Finnish GD patients eligible to the study, and up to 45,100 sample donors in Helsinki Biobank (HBB) were point scored. The GED-C point scoring, adjusted to local data, was automated, but also partly manually verified for GD patients. The SNP chip genotype data for rare GBA variants was visually assessed. FFPE tissues of GD patients were obtained from HBB and Biobank Borealis of Northern Finland (BB). Results: Three previously diagnosed GD patients and one patient previously treated for GD-related features were included. A genetic diagnosis was confirmed for the patient treated for GD-related features. The GED-C point score of the GD patients was 12.5–22.5 in the current study. The score in eight Finnish GD patients of the previous and the current study is thus 6–22.5 ... Article in Journal/Newspaper Northern Finland Directory of Open Access Journals: DOAJ Articles Molecular Genetics and Metabolism Reports 33 100911 |
institution |
Open Polar |
collection |
Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
Biobank study Electronic health record data Small nucleotide polymorphism chip genotype data Gaucher disease Gaucher earlier diagnosis consensus point-scoring system GBA Medicine (General) R5-920 Biology (General) QH301-705.5 |
spellingShingle |
Biobank study Electronic health record data Small nucleotide polymorphism chip genotype data Gaucher disease Gaucher earlier diagnosis consensus point-scoring system GBA Medicine (General) R5-920 Biology (General) QH301-705.5 Minja Pehrsson Hanna Heikkinen Ulla Wartiovaara-Kautto Sampo Mäntylahti Pia Bäckström Mariann I. Lassenius Kristiina Uusi-Rauva Olli Carpén Kaisa Elomaa Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks |
topic_facet |
Biobank study Electronic health record data Small nucleotide polymorphism chip genotype data Gaucher disease Gaucher earlier diagnosis consensus point-scoring system GBA Medicine (General) R5-920 Biology (General) QH301-705.5 |
description |
Background: Autosomal recessive Gaucher disease (GD) is likely underdiagnosed in many countries. Because the number of diagnosed GD patients in Finland is relatively low, and the true prevalence is currently not known, it was hypothesized that undiagnosed GD patients may exist in Finland. Our previous study demonstrated the applicability of Gaucher Earlier Diagnosis Consensus point-scoring system (GED-C PSS; Mehta et al., 2019) and Finnish biobank data and specimens in the automated point scoring of large populations. An indicative point-score range for Finnish GD patients was determined, but undiagnosed patients were not identified partly due to high number of high-score subjects in combination with a lack of suitable samples for diagnostics in the assessed biobank population. The current study extended the screening to another biobank and evaluated the feasibility of utilising the automated GED-C PSS in conjunction with small nucleotide polymorphism (SNP) chip genotype data from the FinnGen study of biobank sample donors in the identification of undiagnosed GD patients in Finland. Furthermore, the applicability of FFPE tissues and DNA restoration in the next-generation sequencing (NGS) of the GBA gene were tested. Methods: Previously diagnosed Finnish GD patients eligible to the study, and up to 45,100 sample donors in Helsinki Biobank (HBB) were point scored. The GED-C point scoring, adjusted to local data, was automated, but also partly manually verified for GD patients. The SNP chip genotype data for rare GBA variants was visually assessed. FFPE tissues of GD patients were obtained from HBB and Biobank Borealis of Northern Finland (BB). Results: Three previously diagnosed GD patients and one patient previously treated for GD-related features were included. A genetic diagnosis was confirmed for the patient treated for GD-related features. The GED-C point score of the GD patients was 12.5–22.5 in the current study. The score in eight Finnish GD patients of the previous and the current study is thus 6–22.5 ... |
format |
Article in Journal/Newspaper |
author |
Minja Pehrsson Hanna Heikkinen Ulla Wartiovaara-Kautto Sampo Mäntylahti Pia Bäckström Mariann I. Lassenius Kristiina Uusi-Rauva Olli Carpén Kaisa Elomaa |
author_facet |
Minja Pehrsson Hanna Heikkinen Ulla Wartiovaara-Kautto Sampo Mäntylahti Pia Bäckström Mariann I. Lassenius Kristiina Uusi-Rauva Olli Carpén Kaisa Elomaa |
author_sort |
Minja Pehrsson |
title |
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks |
title_short |
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks |
title_full |
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks |
title_fullStr |
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks |
title_full_unstemmed |
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks |
title_sort |
screening for potential undiagnosed gaucher disease patients: utilisation of the gaucher earlier diagnosis consensus point-scoring system (ged-c pss) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (snp) genotype data available in finnish biobanks |
publisher |
Elsevier |
publishDate |
2022 |
url |
https://doi.org/10.1016/j.ymgmr.2022.100911 https://doaj.org/article/b89df55e164e428891087e026837972c |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_source |
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100911- (2022) |
op_relation |
http://www.sciencedirect.com/science/article/pii/S2214426922000714 https://doaj.org/toc/2214-4269 2214-4269 doi:10.1016/j.ymgmr.2022.100911 https://doaj.org/article/b89df55e164e428891087e026837972c |
op_doi |
https://doi.org/10.1016/j.ymgmr.2022.100911 |
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Molecular Genetics and Metabolism Reports |
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100911 |
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