Preparing pathology for precision medicine: challenges and opportunities
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The field of pathology offers the opportunity to understand the science of disease, to lead innovation and quality efforts, and to have enormous impact on the lives of patients every day. Patients benefit from laboratory medicine throughout their lives, and our testing services and procedures touch every patient in our health care system. Lab results constitute the majority of data in a patient’s electronic medical record, and our procedures dictate the majority of downstream medical decisions for patients [1, 2]. Medical professionals in clinical laboratories provide accurate and timely information to ensure that patients get the most appropriate and efficient course of care, and hence, the best outcome.
Medicine, and the field of pathology, are rapidly changing. The human genome has been sequenced, yielding an explosion of knowledge applicable to patient care; this is precision medicine, and we need to continue to innovate and integrate novel diagnostic tools and...
KeywordsGenomic pathology Next-generation sequencing Personalized medicine DNA analysis Somatic mutations
- 2.Badrich T (2013) Evidence-based laboratory medicine. Clin Biochem Rev 34:43–46Google Scholar
- 4.National Center for Biotechnology Information (2014) Gene: KMT2D lysine (K)-specific methyltransferase 2D [Homo sapiens (human)]. Gene database. Available from: http://www.ncbi.nlm.nih.gov/gene/8085.
- 6.Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R, Advani R, Ghielmini M, Salles GA, Zelenetz AD, Jaffe ES (2016) The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood 127:2375–2390. doi: 10.1182/blood-2016-01-643569 CrossRefPubMedPubMedCentralGoogle Scholar
- 8.Lièvre A, Bachet JB, Le Corre D, Boige V, Landi B, Emile JF, Côté JF, Tomasic G, Penna C, Ducreux M, Rougier P, Penault-Llorca F, Laurent-Puig P (2006) KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Cancer Res 66(8):3992–3995. doi: 10.1158/0008-5472.CAN-06-0191. PMID16618717CrossRefPubMedGoogle Scholar
- 9.Di Fiore F, Le Pessot F, Lamy A, et al. KRAS mutation is highly predictive of cetuximab resistance in metastatic colorectal cancer. J Clin Oncol, 2007 ASCO Annual Meeting Proc.; vol 25, No 18S (June 20 Supplement), p 2007:10502Google Scholar
- 10.Kamel-Reid S, Zhang T, Persons DL, Molecular Oncology Resource Committee of the College of American Pathologists et al (2012) Validation of KRAS testing for anti-EGFR therapeutic decisions for patients with metastatic colorectal carcinoma. Arch Pathol Lab Med 136:26–32. doi: 10.5858/arpa.2011-0220-OA http://www.ncbi.nlm.nih.gov/pubmed/22208484 CrossRefPubMedGoogle Scholar
- 11.Allegra CJ, Jessup JM, Somerfield MR et al (2009) American Society of Clinical Oncology provisional clinical opinion: testing for KRAS mutations in patients with metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor monoclonal antibody therapy. J Clin Oncol 27:2091–2095CrossRefPubMedGoogle Scholar
- 12.National Comprehensive Cancer Network Guidelines on Colon and Rectal Cancers. NCCN, PA, USA (2008). Practice guidelines established for KRAS mutation testing in colorectal cancerGoogle Scholar
- 13.Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group (2013) Recommendations from the EGAPP working group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? Genet Med 15(7):517–527. doi: 10.1038/gim.2012.184 CrossRefGoogle Scholar
- 14.Allegra CJ, Rumble RB, Hamilton SR, Roach N, Hantel, A, Schilsky RL (2015) Extended RAS gene mutation testing in metastatic colorectal carcinoma to predict response to anti–epidermal growth factor receptor monoclonal antibody therapy: ASCO Provisional Clinical Opinion Update 2015. doi: 10.1200/JCO.2015.63.9674
- 17.Nielsen T, Wallden B, Schaper C, Ferree S, Liu S, Gao D, Barry G, Dowidar N, Maysuria M, Storhoff J (2014) Analytic validation of the PAM50-based Prosigna breast cancer prognostic gene signature assay and nCounter analysis system using formalin-fixed paraffin embedded breast tumor specimens. BMC Cancer 14:177 http://www.biomedcentral.com/1471-2407/14/177 CrossRefPubMedPubMedCentralGoogle Scholar
- 18.Wilhelm M, Schlegl J, Hahne H, Gholami AM, Lieberenz M, Savitski MM, Ziegler E, Butzmann L, Gessulat S, Marx H, Mathieson T, Lemeer S, Schnatbaum K, Reimer U, Wenschuh H, Mollenhauer M, Slotta-Huspenina J, Boese J-H, Bantscheff M, Gerstmair A, Faerber F, Kuster B (2014) Mass-spectrometry-based draft of the human proteome. Nature 509:582–587. doi: 10.1038/nature13319 CrossRefPubMedGoogle Scholar
- 23.Gargis AG, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FCL, Luna RA, MacCannell D (2015) Good laboratory practice for clinical next-generation sequencing informatics pipelines. Nat Biotechnol 33:689–693. doi: 10.1038/nbt.3237 CrossRefPubMedGoogle Scholar
- 24.Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G et al (2013) Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors. Guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. J Molec Diagn 15:415–453CrossRefGoogle Scholar
- 25.NCCN Clinical Practice Guidelines in Oncology: Non-Small Cell Lung Cancer v. 3.2017. www.nccn.org.
- 26.Simon R, Roychowdhury S (2013) Implementing personalized cancer genomics in clinical trials. Nature 12:358–369Google Scholar
- 27.Training Residents in Genomics. (2012) www.pathologylearning.org/trig/resources
- 30.Deans Z, Watson CM, Charlton R, et al. Practice Guidelines for Targeted Next Generation Sequencing Analysis and Interpretation. http://www.acgs.uk.com/media/983872/bpg_for_targeted_next_generation_sequencing_-_approved_dec_2015.pdf
- 31.Joseph L, Cankovic M, Caughron S et al (2016) The spectrum of clinical utilities in molecular pathology testing procedures for inherited conditions and cancer. J Molec Pathol 5:605–619Google Scholar