ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- Video Education in Germline Genetic Testing: A Step Toward Improved Access to Personalized Medicine.JCO oncology practice · 2025Article
- Implementing a Genetic Counselor-Led Model for Hereditary Myeloid Malignancies: A Real-World Study.Cancer medicine · 2025Article
- Changes in multi-gene cancer panels for children: A 4-year retrospective review.Journal of genetic counseling · 2025Article
- Progress in the Genetics of Myelodysplastic Syndromes with a Latin American Perspective.Genes · 2025Review
- Germ line JAK2 variants and hereditary blood cancers.Blood advances · 2025Article
- [Diagnostic approaches and clinical relevance of hereditary hematological malignancies].Magyar onkologia · 2025Review
- Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.Blood advances · 2023Article
- Clinical guideline variability in the diagnosis of hereditary hematopoietic malignancy syndromes.Leukemia & lymphoma · 2023Article
- Stagnation in quality of next-generation sequencing assays for the diagnosis of hereditary hematopoietic malignancies.Journal of genetic counseling · 2023Article
- Clinical considerations at the intersection of hematopoietic cell transplantation and hereditary hematopoietic malignancy.Frontiers in oncology · 2023Review
- Article
- Application of Next-Generation Sequencing-Based Mutational Profiling in Acute Lymphoblastic Leukemia.Current hematologic malignancy reports · 2021Review
- Genetics of Myelodysplastic Syndromes.Cancers · 2021Review
- Identifying potential germline variants from sequencing hematopoietic malignancies.Hematology. American Society of Hematology. Education Program · 2020Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo determine the degree of testing consistency among commercially available diagnostic assays for hereditary hematopoietic malignancies (HHMs).
methodsNext-generation sequencing assays designed for the diagnosis of HHMs were studied to determine which genes were sequenced, their ability to detect variant types relevant for HHMs, and clinical-grade characteristics such as price, turnaround time, and tissue types accepted.
resultsCommercial assays varied in price (USD 250-4702), number of genes sequenced (12-73), and average turnaround time (14-42 days). A number of nongermline tissue types were accepted despite the tests being designed for germline diagnostic purposes. Multiple genes with well-characterized roles in HHM pathogenesis were omitted from more than one-third of panels intended for the evaluation of HHMs. Only 4 of 82 genes were consistently covered across all HHM diagnostic panels. The assays were highly variable in their sensitivity for structural alterations relevant to HHMs, such as copy-number variants.
conclusionA high degree of diagnostic heterogeneity exists among commercially available HHM diagnostic assays. Many of these assays are incapable of detecting the full spectrum of HHM-associated variants, leaving patients vulnerable to the consequences of underdiagnosis, missed opportunities for screening, and the potential for donor-derived malignancies.
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