PROBLEMS OF UNKNOWN SIGNIFICANCE: COUNSELING IN THE ERA OF NEXT GENERATION SEQUENCING
Fahrioğlu U
*Corresponding Author: Assistant Professor Umut Fahrioğlu, Department of Medical Biology, Faculty of Medicine, Near East University, Near East Boulevard, Nicosia, Cyprus. Tel: +90-392-675-1000, Ext: 3019. Fax: +90-392-675-1090. E-mail: umutfahrioglu@gmail.com or umut.fahrioglu@neu.edu.tr
page: 73

REFERENCES

1. Langfelder-Schwind E, Karczeski B, Strecker MN, Redman J, Sugarman EA, Zaleski C,et al. Molecular testing for cystic fibrosis carrier status practice guidelines: Recommendations of the National Society of Genetic Counselors. J Genet Couns. 2014; 23(1): 5-15. 2. Bergmann C. Advances in renal genetic diagnosis. Cell Tissue Res. 2017; 369(1): 93-104. 3. Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, et al. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). Hum Mol Genet. 2008; 17(24): 3854-3863. 4. Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, et al. Diagnosis and management of glutaric aciduria type I - Revised recommendations. J Inherit Metab Dis. 2011; 34(3): 677-694. 5. Matalon R, Michals K, Kaul R, Mafee M. Spongy degeneration of the brain, canavan disease. Int Pediatr. 1990; 5(2): 121-124. 6. Schober H, Luetschg J, Hoeliner I, Kalb S, Simma B. Canavan disease: A novel mutation. Pediatr Neurol. 2011; 45(4): 256-258. 7. Vasli N, Laporte J. Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders. Acta Neuropathol. 2013; 125(2): 173-185. 8. Fecteau H, Vogel KJ, Hanson K, Morrill-Cornelius S. The evolution of cancer risk assessment in the era of next generation sequencing. J Genet Couns. 2014; 23(4): 633-639. 9. Guerreiro R, Bras J, Hardy J, Singleton A. Next generation sequencing techniques in neurological diseases: Redefining clinical and molecular associations. Hum Mol Genet. 2014; 23(R1): R47-R53. 10. Teoh HL, Sampaio H, Roscioli T, Farrar M. Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing. J Neurol Neurosurg Psychiatry. 2016; 87(12): 1384- 1385. 11. Acsadi G. Pediatric neurology in the era of genomics. Pediatr Clin North Am. 2015; 62(3): xvii-xviii. 12. Jiang T, Tan M-S, Tan L, Yu J-T. Application of nextgeneration sequencing technologies in neurology. Ann Transl Med. 2014; 2(12): 125-134. 13. Cheng HH, Klemfuss N, Montgomery B, Higano CS, Schweizer MT, Mostaghel EA, et al. A pilot study of clinical targeted next generation sequencing for prostate cancer: Consequences for treatment and genetic counseling. Prostate. 2016; 76(14): 1303-1311. 14. Rhodes A, Rosman L, Cahill J, Ingles J, Murray B, Tichnell C, et al. Minding the genes: A multidisciplinary approach towards genetic assessment of cardiovascular disease. J Genet Couns. 2017; 26(2): 224-231. 15. Hooker GW, Clemens KR, Quillin J, Vogel Postula KJ, Summerour P, Nagy R, et al. Cancer genetic counseling and testing in an era of rapid change. J Genet Couns. 2017; 26(6): 1244-1253. 16. Mizusawa Y. Recent advances in genetic testing and counseling for inherited arrhythmias. J Arrhythm. 2016; 32(5): 389-397. 17. Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME. Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net? J Clin Oncol. 2013; 31(10): 1267-1270. 18. van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, et al. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013; 21(Suppl 1): S1-S5. http://www.ncbi.nlm.nih.gov/ pubmed/ 23819146. Accessed December 14, 2017. 19. European Society of Human Genetics: Documents & amp; Links. https://www.eshg.org/documents.0.html. Accessed December 14 2017. 20. National Society of Genetic Counselors: NSGC Home Page. https://www.nsgc.org/. Accessed December 14 2017. 21. Ackerman MJ. Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/ unknown significance issue. Hear Rhythm. 2015; 12(11): 2325-2331. 22. ESHG sequencing patient information. 2014. https:// www.eshg.org/fileadmin/eshg/documents/ESHG_Patient_ leaflet_on_NGS.pdf. Accessed December 14 2017.



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