Clinical Integration of Next Generation Sequencing: A Policy Analysis
Experts provide policy analysis for clinical integration of next generation sequencing,
Baylor College of Medicine, September 22, 2014
Baylor College of Medicine, September 22, 2014A special issue of the Journal of Law, Policy & Ethics(September, 2014)
(September, 2014)Clinical integration of next generation sequencing: A policy analysis 
[PDF 116.40 KB]
David Kaufman et al.
[PDF 116.40 KB]David Kaufman et al.
Regulation of next generation sequencing [PDF 203.06 KB]
Gail H. Javitt et al.
[PDF 203.06 KB]Gail H. Javitt et al.
Clinical integration of next generation sequencing: Coverage and reimbursement challenges [PDF 395.09 KB]
Patricia A. Deverka et al.
[PDF 395.09 KB] Patricia A. Deverka et al.
Patents and genome-wide DNA sequence analysis: Is it safe to go into the human genome? [PDF 187.41 KB]
Robert Cook-Deegan et al.
[PDF 187.41 KB] Robert Cook-Deegan et al.
Table of Contents
ASLME - [PDF] (Free Download)
Letter From the Editor
Letter From The Editor
ASLME - [PDF] (Free Download)
A new study has recently been published on genetic alterations linked to a rare type of kidney cancer. Studies like this demonstrate that large-scale sequencing continues to give hope that the cause of such cancers, for example, will be identified, and thus lead to more effective treatments. This is significant for researchers, physicians, patients, families, and anyone else whose life is affected by a genetic disease or illness. With next generation sequencing (NGS), researchers are able to access innumerable DNA strands sequenced in parallel, thereby providing information on genomes in a matter of days, or less. This new technology is not only much faster than early sequencing techniques, but also much less expensive. Thus, use of NGS is increasing in clinical settings. Factors such as cost, quality, and safety will no doubt play a role in it becoming mainstream, but it is exciting how much we as a society will ultimately - and already do - benefit from NGS.
A new study has recently been published on genetic alterations linked to a rare type of kidney cancer. Studies like this demonstrate that large-scale sequencing continues to give hope that the cause of such cancers, for example, will be identified, and thus lead to more effective treatments. This is significant for researchers, physicians, patients, families, and anyone else whose life is affected by a genetic disease or illness. With next generation sequencing (NGS), researchers are able to access innumerable DNA strands sequenced in parallel, thereby providing information on genomes in a matter of days, or less. This new technology is not only much faster than early sequencing techniques, but also much less expensive. Thus, use of NGS is increasing in clinical settings. Factors such as cost, quality, and safety will no doubt play a role in it becoming mainstream, but it is exciting how much we as a society will ultimately - and already do - benefit from NGS.
Introductions
Introduction: Clinical Integration of Next Generation Sequencing: A Policy Analysis
David Kaufman, Margaret Curnutte, and Amy L. McGuire - [PDF] (Free Download)
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."
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."
Symposium Articles
Regulation of Next Generation Sequencing
Gail H. Javitt and Katherine Strong Carner - [PDF] (Free Download)
Since the first draft of the human genome was published in 2001, DNA sequencing technology has advanced at a remarkable pace. Launched in 1990, the Human Genome Project sought to sequence all three billion base pairs of the haploid human genome, an endeavor that took more than a decade and cost nearly three billion dollars. The subsequent development of so-called "next generation" sequencing (NGS) methods has raised the possibility that real-time, affordable genome sequencing will soon be widely available. Currently, NGS methods can be used to sequence up to 60 billion base pairs per day. Whole-genome sequencing costs an estimated $5,000-10,000, with that number predicted to fall to $1000 in the near future.
Since the first draft of the human genome was published in 2001, DNA sequencing technology has advanced at a remarkable pace. Launched in 1990, the Human Genome Project sought to sequence all three billion base pairs of the haploid human genome, an endeavor that took more than a decade and cost nearly three billion dollars. The subsequent development of so-called "next generation" sequencing (NGS) methods has raised the possibility that real-time, affordable genome sequencing will soon be widely available. Currently, NGS methods can be used to sequence up to 60 billion base pairs per day. Whole-genome sequencing costs an estimated $5,000-10,000, with that number predicted to fall to $1000 in the near future.
Clinical Integration of Next Generation Sequencing: Coverage and Reimbursement Challenges
Patricia A. Deverka and Jennifer C. Dreyfus - [PDF] (Free Download)
Clinical next generation sequencing (NGS) is a term that refers to a variety of technologies that permit rapid sequencing of large numbers of DNA segments, up to and including entire genomes. As an approach that is playing an increasingly important role in obtaining genetic information from patients, it may be viewed by public and private payers either positively, as an enabler of the promised benefits of personalized medicine, or as "the perfect storm" resulting from the confluence of high market demand, an uproven technology, and an unprepared delivery system. A number of recent studies have noted that coverage and reimbursement will be critical for clinical integration of NGS, yet the evidentiary pathway for payer decision-making is unclear. Although there are multiple reasons for this uncertain reimbursement environment, the situation stems in large part from a long-standing lack of alignment between the information needs of regulators and post-regulatory decision-makers such as payers.
Clinical next generation sequencing (NGS) is a term that refers to a variety of technologies that permit rapid sequencing of large numbers of DNA segments, up to and including entire genomes. As an approach that is playing an increasingly important role in obtaining genetic information from patients, it may be viewed by public and private payers either positively, as an enabler of the promised benefits of personalized medicine, or as "the perfect storm" resulting from the confluence of high market demand, an uproven technology, and an unprepared delivery system. A number of recent studies have noted that coverage and reimbursement will be critical for clinical integration of NGS, yet the evidentiary pathway for payer decision-making is unclear. Although there are multiple reasons for this uncertain reimbursement environment, the situation stems in large part from a long-standing lack of alignment between the information needs of regulators and post-regulatory decision-makers such as payers.
Patents and Genome-Wide DNA Sequence Analysis: Is It Safe to Go into the Human Genome?
Robert Cook-Deegan and Subhashini Chandrasekharan - [PDF] (Free Download)
Whether, and to what degree, do patents granted on human genes cast a shadow of uncertainty over genomics and its applications? Will owners of patents on individual genes or clusters of genes sue those performing whole-genome analyses on human samples for patent infringement? These are related questions that have haunted molecular diagnostics companies and services, coloring scientific, clinical, and business decisions. Can the profusion of whole-genome analysis methods proceed without fear of patent infringement liability?
Whether, and to what degree, do patents granted on human genes cast a shadow of uncertainty over genomics and its applications? Will owners of patents on individual genes or clusters of genes sue those performing whole-genome analyses on human samples for patent infringement? These are related questions that have haunted molecular diagnostics companies and services, coloring scientific, clinical, and business decisions. Can the profusion of whole-genome analysis methods proceed without fear of patent infringement liability?
Economic Regulation of Next-Generation Sequencing
Barbara J. Evans - [PDF] (Free Download)
The genetic testing industry is in a period of potentially major structural change driven by several factors. These include weaker patent protections after Association for Molecular Pathology v. Myriad Genetics (the "Myriad decision") and Mayo Collaborative Services v. Prometheus Laboratories, Inc.; a continuing shift from single-gene tests to genome-scale sequencing; and a set of February 2014 amendments to the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations and the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule. This article explores the nature of these changes and why they strain existing regulatory frameworks for protecting patients, research subjects, and other consumers who receive genetic testing.
The genetic testing industry is in a period of potentially major structural change driven by several factors. These include weaker patent protections after Association for Molecular Pathology v. Myriad Genetics (the "Myriad decision") and Mayo Collaborative Services v. Prometheus Laboratories, Inc.; a continuing shift from single-gene tests to genome-scale sequencing; and a set of February 2014 amendments to the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations and the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule. This article explores the nature of these changes and why they strain existing regulatory frameworks for protecting patients, research subjects, and other consumers who receive genetic testing.
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