Genetics & Genomics

Next-Generation DNA Sequencing: Implications for Oncology Care

genetics/genomics
ONF 2013, 40(5), 437-439. DOI: 10.1188/13.ONF.437-439

Genetic testing for germline hereditary predisposition syndromes usually involves traditional Sanger DNA sequencing (see Figure 1). New advances in genomic technologies have led to reduced cost and turnaround time with the simultaneous testing of multiple genes. This, in turn, has led to the introduction of next-generation sequencing (NGS) panels that analyze less common high- and intermediate-penetrance cancer susceptibility genes. The ultimate goal of NGS is to reduce the cost of whole genome sequencing to about $1,000 and provide robust and comprehensive information about hereditary risk for developing a myriad of diseases (Rizzo & Buck, 2012).

Jump to a section

    References

    Ambry Genetic Laboratories. (n.d.). Hereditary cancer panels. Retrieved from http://www.ambrygen.com/hereditary-cancer-panels
    American College of Medical Genetics and Genomics. (2012). Policy statement: Points to consider in the clinical application of genomic sequencing. Retrieved from http://bit.ly/18h4mWq
    Biesecker, L. G., Burke, W., Kohane, I., Plon, S. E., & Zimmern, R. (2012). Next-generation sequencing in the clinic: Are we ready? Nature Reviews. Genetics, 13, 818-824. doi:10.1038/nrg3357
    Desmedt, C., Voet, T., Sotiriou, C., & Campbell, P. J. (2012). Next-generation sequencing in breast cancer: First take home messages. Current Opinion in Oncology, 24, 597-604.
    Hudson, K., Javitt, G., Burke, W., Byers, P., & ASGH Social Issues Committee. (2007). ASHG Statement* on direct-to-consumer genetic testing in the United States. American Journal of Human Genetics, 81, 635-637. doi:10.1086/521634
    Ku, C. S., Cooper, D. N., Iacopetta, B., & Roukos, D. H. (2013). Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition. Clinical Genetics, 83, 2-6.
    Ku, C. S., Cooper, D. N., Ziogas, D. E., Halkia, E., Tzaphlidou, M., & Roukos, D. H. (2013). Research and clinical applications of cancer genome sequencing. Current Opinion in Obstetrics and Gynecology, 25, 3-10.
    Meldrum, C., Doyle, M. A., & Tothill, R. W. (2011). Next-generation sequencing for cancer diagnostics: A practical perspective. Clinical Biochemist Reviews, 32, 177-195.
    National Comprehensive Cancer Network. (2013). Genetic/familial high-risk assessment: Breast and ovarian [v.3.2013]. Retrieved from http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf
    O'Daniel, J. M., & Lee, K. (2012). Whole-genome and whole-exome sequencing in hereditary cancer: Impact on genetic testing and counseling. Cancer Journal, 18, 287-292.
    Rizzo, J. M., & Buck, M. J. (2012). Key principles and clinical applications of "next-generation" DNA sequencing. Cancer Prevention Research, 5, 887-900.
    Ross, J. S., & Cronin, M. (2011). Whole cancer genome sequencing by next-generation methods. American Journal of Clinical Pathology, 136, 527-539.
    Walsh, T., Lee, M. K., Casadei, S., Thornton, A. M., Stray, S. M., Pennil, C., … King, M. C. (2010). Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proceedings of the National Academy of Sciences, 107, 12629-12633.