Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications
With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers of disease-associated variants are being identified. This ongoing progress might lead to diagnoses in formerly undiagnosed patients and novel insights in already solved cases. Therefore, many studies suggest intr...
| Main Authors: | , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Springer Nature [academic journals on nature.com]
2024
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| _version_ | 1811140073786179584 |
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| author | van der Geest, MA Maeckelberghe, ELM van Gijn, ME Lucassen, AM Swertz, MA van Langen, IM Plantinga, M |
| author_facet | van der Geest, MA Maeckelberghe, ELM van Gijn, ME Lucassen, AM Swertz, MA van Langen, IM Plantinga, M |
| author_sort | van der Geest, MA |
| collection | OXFORD |
| description | With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers of disease-associated variants are being identified. This ongoing progress might lead to diagnoses in formerly undiagnosed patients and novel insights in already solved cases. Therefore, many studies suggest introducing systematic reanalysis of NGS data in routine diagnostics. Introduction will, however, also have ethical, economic, legal and (psycho)social (ELSI) implications that Genetic Health Professionals (GHPs) from laboratories should consider before possible implementation of systematic reanalysis. To get a first impression we performed a scoping literature review. Our findings show that for the vast majority of included articles ELSI aspects were not mentioned as such. However, often these issues were raised implicitly. In total, we identified nine ELSI aspects, such as (perceived) professional responsibilities, implications for consent and cost-effectiveness. The identified ELSI aspects brought forward necessary trade-offs for GHPs to consciously take into account when considering responsible implementation of systematic reanalysis of NGS data in routine diagnostics, balancing the various strains on their laboratories and personnel while creating optimal results for new and former patients. Some important aspects are not well explored yet. For example, our study shows GHPs see the values of systematic reanalysis but also experience barriers, often mentioned as being practical or financial only, but in fact also being ethical or psychosocial. Engagement of these GHPs in further research on ELSI aspects is important for sustainable implementation. |
| first_indexed | 2024-09-25T04:16:11Z |
| format | Journal article |
| id | oxford-uuid:e1a13b9a-cdee-4045-8684-ac7ef7b084f9 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-09-25T04:16:11Z |
| publishDate | 2024 |
| publisher | Springer Nature [academic journals on nature.com] |
| record_format | dspace |
| spelling | oxford-uuid:e1a13b9a-cdee-4045-8684-ac7ef7b084f92024-07-20T14:35:30ZSystematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implicationsJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:e1a13b9a-cdee-4045-8684-ac7ef7b084f9EnglishJisc Publications RouterSpringer Nature [academic journals on nature.com]2024van der Geest, MAMaeckelberghe, ELMvan Gijn, MELucassen, AMSwertz, MAvan Langen, IMPlantinga, MWith the introduction of Next Generation Sequencing (NGS) techniques increasing numbers of disease-associated variants are being identified. This ongoing progress might lead to diagnoses in formerly undiagnosed patients and novel insights in already solved cases. Therefore, many studies suggest introducing systematic reanalysis of NGS data in routine diagnostics. Introduction will, however, also have ethical, economic, legal and (psycho)social (ELSI) implications that Genetic Health Professionals (GHPs) from laboratories should consider before possible implementation of systematic reanalysis. To get a first impression we performed a scoping literature review. Our findings show that for the vast majority of included articles ELSI aspects were not mentioned as such. However, often these issues were raised implicitly. In total, we identified nine ELSI aspects, such as (perceived) professional responsibilities, implications for consent and cost-effectiveness. The identified ELSI aspects brought forward necessary trade-offs for GHPs to consciously take into account when considering responsible implementation of systematic reanalysis of NGS data in routine diagnostics, balancing the various strains on their laboratories and personnel while creating optimal results for new and former patients. Some important aspects are not well explored yet. For example, our study shows GHPs see the values of systematic reanalysis but also experience barriers, often mentioned as being practical or financial only, but in fact also being ethical or psychosocial. Engagement of these GHPs in further research on ELSI aspects is important for sustainable implementation. |
| spellingShingle | van der Geest, MA Maeckelberghe, ELM van Gijn, ME Lucassen, AM Swertz, MA van Langen, IM Plantinga, M Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications |
| title | Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications |
| title_full | Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications |
| title_fullStr | Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications |
| title_full_unstemmed | Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications |
| title_short | Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications |
| title_sort | systematic reanalysis of genomic data by diagnostic laboratories a scoping review of ethical economic legal and psycho social implications |
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