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Genomics|Features|Human Genome Sequencing

Human Genome Sequencing

More on Next Generation Sequencing: Clinical Utility and Oversight - February 5, 2015

Khoury MJ, Cashion A, Billings PR. Evaluating the clinical utility of genomic variants derived from next-generation sequencing for opportunistic disease screening and risk assessment: Evidence gaps and priorities. Institute of Medicine Discussion Report, February 5, 2015   

Clinical utility: Informing treatment decisions by changing the paradigm, 
IOM Discussion Paper, Robert McCormack et al, January 30, 2015

FDA considering how to tailor its oversight for next generation sequencing, by Margaret A. Hamburg, FDA Voice, Jan 30

Demonstrating the clinical utility of next generation sequencing in clinical oncology,  [PDF 1.70 MB] Center for Medical Technology Policy Meeting Summary (2014)

What is the difference between clinical validity and clinical utility in genomics?  See EGAPP methods articles:

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group (2009)

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies (2013)

CDC Information

• CDC paper: Evaluating the clinical utility of genomic variants derived from next-generation sequencing for opportunistic disease screening and risk assessment: Evidence gaps and priorities.February 5, 2015
• CDC blog post: Reconciling the future of genomic medicine with its current reality.(2014)
• CDC commentary: The arrival of genomic medicine to the clinic is only the beginning of the journey  James P. Evans & Muin J. Khoury. Genetics in Medicine 15, 268-269
• Genome sequencing in the clinic – The question is not whether the glass is half-full or half-empty but whether or not the glass is the right tool.
• When should we all have our genomes sequenced?

Assuring the Validity of Next Generation Sequencing - January 20, 2015

Analytic validity of genomic testing, Discussion paper, by V. Platt et al., IOM Roundtable on Genomics Translation, Jan 15

Variant validity (selected vs. general population), Discussion paper, by Billings PR, et al. IOM Roundtable on Genomics Translation, Jan 22

The CDC Genetic Testing Reference Materials Coordination Program

The Genome in a Bottle Consortium

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the clarity challenge. 
CA Brownstein, et al. Genome Biology 2014;  15(3):R53.

The American College of Medical Genetics and Genomics  clinical laboratory standards for next-generation sequencing. 
Genetics in Medicine 2013; 15(9):733–747.

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.
Richards CS, et al. Genetics in Medicine, January 2014

Whole Genome/Exome Sequencing in Practice: Recent Insights - December 11, 2014

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 
Sarah E. Soden et al. Sci Trans Med, December 3, 2014

New study validates usefulness of genomic medicine in children with neurologic disorders. Genomic tests are uncovering elusive diagnoses, saving time and money, and changing treatment for infants and children. Eureka Alert, Dec 3

Sequencing kids' exomes: More good news, by Ricki Lewis, PLOS Blogs, Dec 11

Human Genome Sequencing: Clinical Applications - October 30, 2014

Editorial: Genome-scale sequencing in clinical care: Establishing molecular diagnoses and measuring value.
Jonathan S. Berg, JAMA, October 18, 2014

Molecular findings among patients referred for clinical whole-exome sequencing  
Yaping Yang, PhD1; et al. JAMA October 18, 2014

Clinical exome sequencing for genetic identification of rare Mendelian disorders. 
Hane Lee, et al. JAMA  October 18, 2014 

CDC blog post: Reconciling the future of genomic medicine with its current reality. (2014)

CDC Commentary: The arrival of genomic medicine to the clinic is only the beginning of the journey
James P. Evans & Muin J. Khoury. Genetics in Medicine 15, 268-269 

Human Genome Sequencing: Clinical Applications - October 22, 2014

Editorial: Genome-scale sequencing in clinical care:  Establishing molecular diagnoses and measuring value.  
 Berg, JAMA, October 18, 2014

Molecular findings among patients referred for clinical whole-exome sequencing  
 Yang, PhD1; et al. JAMA October 18, 2014

Clinical exome sequencing for genetic identification of rare Mendelian disorders. 
 Lee, et al. JAMA  October 18, 2014 

Selected articles from Nature special web collections

Next-generation sequencing in the clinic. 
Jason Y Park, Larry J Kricka & Paolo Fortina Nature Biotechnology 31, 990-992 (2013)

Genomic testing reaches into the womb. 
Malorye Allison. Nature Biotechnology 31, 595-601 (2013)

Next-generation sequencing for research and diagnostics in kidney disease
Kirsten Y. Renkema, et al. Nature Reviews Nephrology 10, 433-444 (2014)

Exploration of liver cancer genomes. 
Tatsuhiro Shibata & Hiroyuki Aburatani. Nature Reviews Gastroenterology & Hepatology 11, 340-349 (2014)

Molecular genetic testing and the future of clinical genomics
Sara Huston Katsanis & Nicholas Katsanis. Nature Reviews Genetics 14, 415-426 (2013)

The expanding scope of DNA sequencing.
Jay Shendure & Erez Lieberman Aiden Nature Biotechnology 30, 1084-1094 (2012)

Pharmacogenomics in clinical practice and drug development
Andrew R Harper & Eric J Topol. Nature Biotechnology 30, 1117-1124 (2012)

Whole-genome and whole-exome sequencing in neurological diseases
Jia-Nee Foo, Jian-Jun Liu & Eng-King Tan. Nature Reviews Neurology 8, 508-517 (2012)

Implementing personalized cancer genomics in clinical trials
Richard Simon & Sameek Roychowdhury. Nature Reviews Drug Discovery 12, 358-369 (2013)

Disease-targeted sequencing: a cornerstone in the clinic
Heidi L. Rehm. Nature Reviews Genetics 14, 295-300 (2013)

Next-generation sequencing in the clinic: are we ready?
Leslie G. Biesecker, et al. Nature Reviews Genetics 13, 818-824 (2012)

CDC blog post: Reconciling the future of genomic medicine with its current reality. (2014)

CDC Commentary: The arrival of genomic medicine to the clinic is only the beginning of the journey
James P. Evans & Muin J. Khoury. Genetics in Medicine 15, 268-269 

Whole exome sequencing closer to becoming 'new family history', Science Cordex, Oct 18

Translating Whole Genome Sequencing: Investing in Future Healthcare - August 7, 2014

The genetic building blocks of future healthcare, Wellcome Trust, Aug 1

Human genome: UK to become world number 1 in DNA testing, UK Government, Aug 1

A new era for healthcare, by Dr Hilary Burton, PHG Foundation, Aug 1

Genomics is not overhyped: it really can change medicine, The Telegraph, Aug 1

Assessing genomic sequencing information for health care decision making, IOM workshop report, Jul 21 

Diagnostic clinical genome and exome sequencing. 
Leslie G. Biesecker, et al. N Engl J Med 2014; 370:2418-2425, June 19, 2014

NIH research highlights: Genome sequencing is moving into doctor offices; NIH gives guidance on how to best use these new technologies

Clinician's guide for genomics. 
Bridget M. Kuehn, MSJ JAMA. 2014;312(4)

Genome sequencing on the way to clinical use in treating cancer, by Kate Marusina, Genetic Engineering and Biotechnology News, Genetic Literacy Project, Aug 4

CDC blog post: Reconciling the future of genomic medicine with its current reality.