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Types Therapeutics Congresses Trials Expert Opinions Educational Resources DRUG UPDATES

Multiple Myeloma Types

2023-04-07T13:18:43.000Z

Common genomic diagnostic tests

By Oscar Williams

Apr 7, 2023

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Genetic testing has become an integral part of cancer diagnosis, risk stratification, and treatment strategy.¹While whole exome and whole genome sequencing are becoming increasingly accessible, classic genetic tests, such as Sanger sequencing and polymerase chain reaction (PCR), remain the standard approach for many clinical practices due to their high sensitivity, relatively low costs, and wide availability.¹

At present, no single test is able to detect the wide range of potential genetic abnormalities that may be inherited or arise de novo in a patient; therefore, a multiform approach is adopted to generate an accurate and reliable genetic readout.¹

In view of this, the Multiple Myeloma Hub is proud to present a visual summary of the genomic diagnostic techniques commonly used in clinical practice. We outline the use of each technique, as well as their associated advantages and disadvantages.

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Liu HY, Hopping GC, Vaidyanathan U, et al. Polymerase chain reaction and its application in the diagnosis of infectious keratitis. Med Hypothesis Discov Innov Ophthalmol. 2019;8(3):152-155.
Genetic Alliance; The New England Public Health Genetics Education Collaborative. Understanding genetics: A New England guide for patients and health professionals. Genetic Alliance Monographs and Guides; 2007.
Alkan C, Sajjadian S, Eichler EE, et al. Limitations of next-generation genome sequence assembly. Nat Methods. 2011;8(1):61-65. DOI: 10.1038/nmeth.1527
Behjati S, Tarpey PS. What is next generation sequencing? Arch Dis Child Educ Pract Ed. 2013;98:236-238. DOI: 10.1136/archdischild-2013-304340
Ikbal Atli E, Gurkan H, Onur Kirkizlar H, et al. Pros and cons for fluorescent in situ hybridization, karyotyping and next generation sequencing for diagnosis and follow-up of multiple myeloma. Balkan J Med Genet. 2021;23(2):59-64. DOI: 10.2478/bjmg-2020-0020
Bridge JA. Advantages and limitations of cytogenetic, molecular cytogenetic, and molecular diagnostic testing in mesenchymal neoplasms. J Orthop Sci. 2008;13(3):273-282. DOI: 10.1007/s00776-007-1215-1
Russo G, Zegar C, Giordano A. Advantages and limitations of microarray technology in human cancer. Oncogene. 2003;22(42):6497-6507. DOI: 10.1038/sj.onc.1206865
EMBL-EBI. Microarrays. https ://www.ebi.ac.uk/training/online/courses/functional-genomics-ii-common-technologies-and-data-analysis-methods/microarrays. Accessed Mar 21, 2023.
Thermo Fisher Scientific. Introduction to gene expression profiling. https ://www.thermofisher.com/uk/en/home/life-science/pcr/real-time-pcr/real-time-pcr-learning-center/gene-expression-analysis-real-time-pcr-information/introduction-gene-expression-profiling.html. Accessed Mar 21, 2023.
Jovic D, Liang X, Zeng H, et al. Single-cell RNA sequencing technologies and applications: A brief overview. Clin Transl Med. 2022;12(3):e694. DOI: 10.1002/ctm2.694

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