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Clinical Integration of Next Generation Sequencing: A Policy Analysis

Published online by Cambridge University Press:  01 January 2021

Extract

In 1996, President Clinton offered a promissory vision for human genetics when he said: “I think it won't be too many years before parents will be able to go home from the hospital with their newborn babies with a genetic map in their hands that will tell them, here's what your child's future will likely be like.”

The rapid evolution of genetic sequencing technologies has advanced that vision. In October 2006, the cost of sequencing an entire human genome was $10.4 million; by 2014 the cost had decreased a thousand fold. The term next generation sequencing (NGS) describes a variety of laboratory methods that allow efficient determination of the precise order of nucleotides in a DNA sequence. The papers in this issue of the Journal of Law, Medicine & Ethics focus on “clinical NGS,” which refers to rapid DNA sequencing using second-, third- and fourth-generation sequencing technologies to perform genome-wide sequencing of multiple genes or alleles for clinical prognostic, diagnostic, and therapeutic purposes.

Type
JLME Supplement
Copyright
Copyright © American Society of Law, Medicine and Ethics 2014

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References

Mitchell, A., “They See the Future and It Works for Them,” New York Times, October 11, 1996.Google Scholar
Wetterstrand, K., “DNA Sequencing Costs, National Human Genome Research Institute (2014),” available at <http://www.genome.gov/sequencingcosts> (last visited July 9, 2014).+(last+visited+July+9,+2014).>Google Scholar
Schrijver, I., Aziz, N., and Farkas, D. H. et al., “Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing: A Report of the Association for Molecular Pathology,” Journal of Molecular Diagnostics 14, no. 6 (2012): 525540.CrossRefGoogle Scholar
Saffitz, J. E., “Genomic Pathology: A Disruptive Innovation,” Personalized Medicine 9, no. 3 (2012): 237239.CrossRefGoogle Scholar
See Ma, Q. C., Ennis, C. A., and Aparicio, S., “Opening Pandora's Box – The New Biology of Driver Mutations and Clonal Evolution in Cancer as Revealed by Next Generation Sequencing,” Current Opinion in Genetics & Development 22, no. 1 (2012): 39Calvo, S. E., Compton, A. G., and Hershman, S. G. et al., “Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing,” Science Translational Medicine 4, no. 118 (2012): 118ra10, available at <http://stm.sciencemag.org/content/4/118/118ra10.full.pdf> (last visited August 26, 2014); Chiu, R. W., Akolekar, R., and Zheng, Y. W. et al., “Non-Invasive Prenatal Assessment of Trisomy 21 by Multiplexed Maternal Plasma DNA Sequencing: Large Scale Validity Study,” British Medical Journal (Clinical Research ed.) 342 (2011): C7401, available at <http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3019239/pdf/bmj.c7401.pdf> (last visited August 26, 2014).Google Scholar
Moorthie, S., Hall, A., and Wright, C. F., “Informatics and Clinical Genome Sequencing: Opening the Black Box,” Genetics in Medicine 15, no. 3 (2013): 165171.CrossRefGoogle Scholar
Burke, W., Antommaria, A. H. M., and Bennett, R. et al., “Recommendations for Returning Genomic Incidental Findings? We Need to Talk!” Genetics in Medicine 15, no. 11 (2013): 854859; Green, R. C., Berg, J. S., and Grody, W. W. et al., “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing,” Genetics in Medicine 15, no. 7 (2013): 565–574.CrossRefGoogle Scholar
Dewey, F. E., Grove, M. E., and Pan, C. et al., “Clinical Interpretation and Implications of Whole-Genome Sequencing,” JAMA 311, no. 10 (2014): 10351044.Google Scholar
Gargis, A. S., Kalman, L., and Berry, M. W. et al., “Assuring the Quality of Next-Generation Sequencing in Clinical Laboratory Practice,” Nature Biotechnology 30, no. 11 (2012): 10331036; see Federal Register 76 (May 19, 2011): 28990; Transcript, CDRH Public Meeting on Ultra High Throughput Sequencing for Clinical Diagnostic Applications – Approaches to Assess Analytical Validity (June 23, 2011), available at <http://www.fda.gov/downloads/MedicalDevices/NewsEvents/WorkshopsConferences/UCM266607.pdf> (last visited May 5, 2014); Walcoff, S. D. and Pfeifer, J. D., “Modernizing US Regulatory and Reimbursement Policy to Support Continued Innovation in Genomic Pathology,” Personalized Medicine 9, no. 3 (2012): 295–308.CrossRefGoogle Scholar
Ginsburg, G. S., “Realizing the Opportunities of Genomics in Health Care,” JAMA 309, no. 14 (2013): 14631464.CrossRefGoogle Scholar
Javitt, G. H. and Carner, K. S., “Regulation of Next Generation Sequencing,” Journal of Law, Medicine & Ethics 42, no. 3, Supp. (2014): 921.CrossRefGoogle Scholar
Collins, F. S. and Hamburg, M. A., “First FDA Authorization for Next-Generation Sequencer,” New England Journal of Medicine 369, no. 25 (2013): 23692371.Google Scholar
Deverka, P. and Dreyfus, J. C., “Clinical Integration of Next Generation Sequencing: Coverage and Reimbursement Challenges,” Journal of Law, Medicine & Ethics 42, no. 3, Supp. (2014): 2241.CrossRefGoogle Scholar
Seesupra note 6.Google Scholar
BlueCross BlueShield of North Carolina, “Corporate Medical Policy: Whole Exome Sequencing,” November 2013, available at <https://www.bcbsnc.com/assets/services/public/pdfs/medicalpolicy/whole_exome_sequencing.pdf> (last visited July 9, 2014).+(last+visited+July+9,+2014).>Google Scholar
Cook-Deegan, R. and Chandrasekharan, S., “Patents and Genome-Wide DNA Sequence Analysis: Is It Safe to Go into the Human Genome?” Journal of Law, Medicine & Ethics 42, no. 3, Supp. (2014): 4250.CrossRefGoogle Scholar
Evans, B. J., “Economic Regulation of Next-Generation Sequencing,” Journal of Law, Medicine & Ethics 42, no. 3, Supp. (2014): 5166.CrossRefGoogle Scholar
For full scope and methodology of this study, seeCurnutte, M., McGuire, A. L., and Kaufman, D. J., “Development of the Clinical NGS Industry in a Shifting Policy Climate,” Nature Biotechnology (forthcoming, October 2014).Google Scholar
DNAnexus, “Privacy,” available at <https://www.dnanexus.com/privacy> (last visited July 9, 2014).+(last+visited+July+9,+2014).>Google Scholar