Molecular Genetic Techniques in Biomarker Analysis Relevant for Drugs Centrally Approved in Europe

Overview

Journal Mol Diagn Ther

Specialties Molecular Biology
Pathology
Pharmacology

Date 2021 Dec 14

PMID 34905151

Citations 1

Authors

Tatjana Huebner

Michael Steffens

Catharina Scholl

Affiliations

Soon will be listed here.

Abstract

On the basis of scientific evidence, information on the option, recommendation or requirement to test for pharmacogenetic or pharmacogenomic biomarkers is incorporated in the Summary of Product Characteristics of an increasing number of drugs in Europe. A screening of the Genetic Testing Registry (GTR) showed that a variety of molecular genetic testing methods is currently offered worldwide in testing services with regard to according drugs and biomarkers. Thereby, among the methodology indicated in the screened GTR category 'Molecular Genetics', next-generation sequencing is applied for identification of the largest proportion of evaluated biomarkers that are relevant for therapeutic management of centrally approved drugs in Europe. However, sufficient information on regulatory clearances, clinical utility, analytical and clinical validity of applied methods is rarely provided.

Citing Articles

Current status of the analytical validation of next generation sequencing applications for pharmacogenetic profiling.

Huebner T, Steffens M, Scholl C Mol Biol Rep. 2023; 50(11):9587-9599.

PMID: 37787843 PMC: 10635985. DOI: 10.1007/s11033-023-08748-z.

References

Girolami F, Frisso G, Benelli M, Crotti L, Iascone M, Mango R . Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications. J Cardiovasc Med (Hagerstown). 2017; 19(1):1-11. PMC: 5732648. DOI: 10.2459/JCM.0000000000000589. View

Ardui S, Ameur A, Vermeesch J, Hestand M . Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics. Nucleic Acids Res. 2018; 46(5):2159-2168. PMC: 5861413. DOI: 10.1093/nar/gky066. View

Shitaye G, Gadisa E, Grignard L, Shumie G, Chali W, Menberu T . Low and heterogeneous prevalence of glucose-6-phosphate dehydrogenase deficiency in different settings in Ethiopia using phenotyping and genotyping approaches. Malar J. 2018; 17(1):281. PMC: 6071387. DOI: 10.1186/s12936-018-2437-8. View

Konjhodzic R, Dervovic E, Kurtovic-Basic I, Stomornjak-Vukadin M, Muhic A, Baljevic S . Use of Quantitative Fluorescent Polymerase Chain Reaction (QF PCR) in Prenatal Diagnostic of Fetal Aneuploidies in a 17 Month Period in Parallel with Karyotyping. Acta Inform Med. 2014; 22(2):86-8. PMC: 4008034. DOI: 10.5455/aim.2014.22.86-88. View

Erali M, Wittwer C . High resolution melting analysis for gene scanning. Methods. 2010; 50(4):250-61. PMC: 2836412. DOI: 10.1016/j.ymeth.2010.01.013. View

Kerkhof J, Schenkel L, Reilly J, McRobbie S, Aref-Eshghi E, Stuart A . Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels. J Mol Diagn. 2017; 19(6):905-920. DOI: 10.1016/j.jmoldx.2017.07.004. View

Garrido-Cardenas J, Garcia-Maroto F, Alvarez-Bermejo J, Manzano-Agugliaro F . DNA Sequencing Sensors: An Overview. Sensors (Basel). 2017; 17(3). PMC: 5375874. DOI: 10.3390/s17030588. View

Su K, Kao J, Ho B, Chen H, Chang G, Ho C . Implementation and Quality Control of Lung Cancer EGFR Genetic Testing by MALDI-TOF Mass Spectrometry in Taiwan Clinical Practice. Sci Rep. 2016; 6:30944. PMC: 4969598. DOI: 10.1038/srep30944. View

Heeke S, Hofman V, Ilie M, Allegra M, Lespinet V, Bordone O . Prospective evaluation of NGS-based liquid biopsy in untreated late stage non-squamous lung carcinoma in a single institution. J Transl Med. 2020; 18(1):87. PMC: 7027049. DOI: 10.1186/s12967-020-02259-2. View

10.

Suo W, Shi X, Xu S, Li X, Lin Y . Towards low cost, multiplex clinical genotyping: 4-fluorescent Kompetitive Allele-Specific PCR and its application on pharmacogenetics. PLoS One. 2020; 15(3):e0230445. PMC: 7075562. DOI: 10.1371/journal.pone.0230445. View

11.

Kawada I, Soejima K, Watanabe H, Nakachi I, Yasuda H, Naoki K . An alternative method for screening EGFR mutation using RFLP in non-small cell lung cancer patients. J Thorac Oncol. 2008; 3(10):1096-103. DOI: 10.1097/JTO.0b013e318186fadd. View

12.

Schimanski C, Linnemann U, Berger M . Sensitive detection of K-ras mutations augments diagnosis of colorectal cancer metastases in the liver. Cancer Res. 1999; 59(20):5169-75. View

13.

Montgomery J, Wittwer C, Kent J, Zhou L . Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis. Clin Chem. 2007; 53(11):1891-8. DOI: 10.1373/clinchem.2007.092361. View

14.

Murphy J, Bustin S . Reliability of real-time reverse-transcription PCR in clinical diagnostics: gold standard or substandard?. Expert Rev Mol Diagn. 2009; 9(2):187-97. DOI: 10.1586/14737159.9.2.187. View

15.

Lohmann K, Klein C . Next generation sequencing and the future of genetic diagnosis. Neurotherapeutics. 2014; 11(4):699-707. PMC: 4391380. DOI: 10.1007/s13311-014-0288-8. View

16.

Bank P, Jacobs L, van den Berg S, van Deutekom H, Hamann D, Molenkamp R . The end of the laboratory developed test as we know it? Recommendations from a national multidisciplinary taskforce of laboratory specialists on the interpretation of the IVDR and its complications. Clin Chem Lab Med. 2021; . DOI: 10.1515/cclm-2020-1384. View

17.

He C, Holme J, Anthony J . SNP genotyping: the KASP assay. Methods Mol Biol. 2014; 1145:75-86. DOI: 10.1007/978-1-4939-0446-4_7. View

18.

Letovanec I, Finn S, Zygoura P, Smyth P, Soltermann A, Bubendorf L . Evaluation of NGS and RT-PCR Methods for ALK Rearrangement in European NSCLC Patients: Results from the European Thoracic Oncology Platform Lungscape Project. J Thorac Oncol. 2017; 13(3):413-425. DOI: 10.1016/j.jtho.2017.11.117. View

19.

Fumet J, Truntzer C, Yarchoan M, Ghiringhelli F . Tumour mutational burden as a biomarker for immunotherapy: Current data and emerging concepts. Eur J Cancer. 2020; 131:40-50. PMC: 9473693. DOI: 10.1016/j.ejca.2020.02.038. View

20.

Harrington C, Lin E, Olson M, Eshleman J . Fundamentals of pyrosequencing. Arch Pathol Lab Med. 2013; 137(9):1296-303. DOI: 10.5858/arpa.2012-0463-RA. View