AMP reports on possibilities, challenges, and applications of next-generation sequencing
Bethesda, MD, October 18, 2012 The Association for Molecular Pathology (AMP) published the report of the Whole Genome Analysis (WGA) Working Group of the AMP Clinical Practice Committee in the November 2012 issue of The Journal of Molecular Diagnostics (JMD).
Titled "Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing," the timely report provides a detailed and compelling overview of the landscape of next generation sequencing (NGS) technology and its clinical relevance and impact on improving patient care. The issues addressed in the report are comprehensive, including "…current technical, bioinformatic, and clinical implementation considerations, as well as medical applications, clinical utility, and ethical, legal, and education issues presented by genome-level diagnostic testing."1
NGS-related technologies and instrumentation introduced over the past decade have significantly alleviated the amount of resources required to conduct complex genomic analysis. "The possibilities of these technologies are numerous," noted, Iris Schrijver, AMP President and lead author of the report. "As the only Association whose members are experts specifically dedicated to the field of molecular pathology, AMP has the responsibility to initiate and lead the discussion on safe, effective and practical applications of next-generation sequencing."
The report illuminates the current state of NGS by calling out and highlighting the issues to be addressed in greater depth moving forward. "The next phase of reporting will include detailed studies of the validation, interpretation, and bioinformatics elements of NGS. We are excited to collaborate with other organizations to develop guidelines for application and quality assessment," said Jane Gibson, WGA Working Group Chair. "While this report is comprehensive, there is much yet to be done."
More information: A full copy of the report is available online at: bit.ly/QVQSqt
1 Schrijver, I, et al: Opportunities and Clinical Challenges Associated with Clinical Diagnostic Genome Sequencing. The Journal of Molecular Diagnostics 2012, 14: 541-549.
Journal reference: Journal of Molecular Diagnostics
Provided by Association for Molecular Pathology
- EHEC 2011 outbreak: Scientists publish their prospective genomic characterization Jul 20, 2011 | not rated yet | 0
- Association for Molecular Pathology comments on proposed changes to the common rule Oct 26, 2011 | not rated yet | 0
- BGI, Children's Hospital of Philadelphia launch the 1,000 Rare Diseases Project Jun 18, 2012 | not rated yet | 0
- Pathologists call for new training program to support personalized medicine Jun 30, 2010 | not rated yet | 0
- AMP releases statement on diagnostics in drug labels May 16, 2011 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011 I'd like to open a discussion thread for version 2 of the draft of my book ''Classical and Quantum Mechanics via Lie algebras'', available online at http://lanl.arxiv.org/abs/0810.1019 , and for the...
- More from Physics Forums - Independent Research
More news stories
University of Minnesota Medical School researchers from the Masonic Cancer Center, University of Minnesota, in partnership with the University's Brain Tumor Program, have developed a new mouse model of malignant peripheral ...
Genetics May 20, 2013 | 5 / 5 (1) | 0 |
Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.
Genetics May 16, 2013 | 3 / 5 (1) | 1 |
Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of ...
Genetics May 16, 2013 | 5 / 5 (1) | 3 |
Ethicists provide framework supporting new recommendations on reporting incidental findings in gene sequencing
In a paper published in Science Express, a group of experts led by bioethicists in the Center for Medical Ethics and Health Policy at Baylor College of Medicine provide a framework for the new American College of Medical Geneti ...
Genetics May 16, 2013 | not rated yet | 0
The use of genome-wide analysis (GWA), where the entirety of an individual's DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology for diagnosing disease. ...
Genetics May 16, 2013 | not rated yet | 0
Is it permissible to harm one to save many? Those who tend to say "yes" when faced with this classic dilemma are likely to be deficient in a specific kind of empathy, according to a report published in the scientific journal ...
16 minutes ago | not rated yet | 0 |
Phthalates: Study links chemicals widely found in plastics, processed food to elevated blood pressure in children, teens
Plastic additives known as phthalates (pronounced THAL-ates) are odorless, colorless and just about everywhere: They turn up in flooring, plastic cups, beach balls, plastic wrap, intravenous tubing and—according to the ...
1 hour ago | not rated yet | 0 |
(Medical Xpress)—Native peoples in regions where cameras are uncommon sometimes react with caution when their picture is taken. The fear that something must have been stolen from them to create the photo ...
18 hours ago | 4.2 / 5 (5) | 0 |
(Medical Xpress)—Despite spending billions of dollars on research and development, drug companies have been unable to come up with effective treatments for dementia and Alzheimer's Disease (AD). Now, A. ...
15 hours ago | 4.9 / 5 (13) | 0 |
Australian scientists have charted the path of insulin action in cells in precise detail like never before. This provides a comprehensive blueprint for understanding what goes wrong in diabetes.
17 hours ago | 4.6 / 5 (7) | 0 |