Category: Governing Organizations
The Promise of Data Science and the Challenges of the Clinical Workflow (notes from #PMWC16)

One of the most exciting things to behold at this year’s Personalized Medicine World Conference  is the increasingly innovative ways that companies and healthcare providers are combining disparate data sources and deploying analytic tools to generate insights that are useful and actionable for clinicians. This is no small feat. It won’t surprise anyone reading this […]


Wed. January 27, 2016
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Estimating the Impact of LDT Regulation on Genetic Tests

by Gillian Hooker, PhD, CGC Last week, at the Annual Education Conference of the National Society of Genetic Counselors, I shared data from an analysis in which we estimate the impact that proposed FDA regulation on laboratory developed tests (LDTs) will have on the genetic testing industry. We see great value in data-driven stakeholder dialog […]


Thu. October 29, 2015
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Naming Conventions and Charcot-Marie-Tooth Disease

By: David Shifrin, PhD Science Writer, Filament Life Science Communications We all know the feeling: A new project starts, so we set up a folder system and naming convention and get to work. It works pretty well for a while; most of the files fit into the folder hierarchy on our computer and the names generally […]


Tue. October 27, 2015
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Whole Exome Sequencing Leads to Personalized Care for Aortic Aneurysms

By: David Shifrin, PhD Science Writer, Filament Life Science Communications In 2009, over 10,500 deaths were caused by ruptured aortic aneurysms, while the same condition contributed to another 17,000. Aneurysms occur when a vessel wall weakens, causing a bulge like that seen in a water balloon squeezed in a fist. When the pressure becomes too great, […]


Tue. August 25, 2015
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Closing the gap between the promise and reality of genetic testing: Is data sharing the answer?

By: David Shifrin, PhD Science Writer, Filament Life Science Communications These days, there is a significant push in parts of the genetics community to share testing results. One of the organizations spearheading this effort is Free the Data, which focuses on getting patients to contribute their BRCA1/2 sequences to an anonymized database for use in research. […]


Tue. August 4, 2015
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Editing the Human Genome

By: David Shifrin, PhD Science Writer, Filament Life Science Communications Two posts ago we looked at new advances in the CRISPR-Cas9 gene editing system. The DNA-snipping bacterial immune response has been adapted and adopted incredibly quickly by scientists. Arguably, CRISPR’s promise for everything from cell culture experiments in academic labs to curing human genetic diseases makes […]


Tue. July 28, 2015
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ASHG Issues Updated Position Statement on Genetic Testing in Minors

By: David Shifrin, PhD Science Writer, Filament Life Science Communications The American Society of Human Genetics has just released a new position statement about genetic testing of minors. The statement, titled “Points to Consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents,” was published at the beginning of July in the American […]


Thu. July 23, 2015
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Opinions on Genetic Testing from the Early Adopters

By: David Shifrin, PhD Science Writer, Filament Life Science Communications The past few weeks have been filled with articles dealing with the distribution and use of genetic test results. As we have pointed out on this blog, the underlying theme is that gaining a full(er) understanding of the clinical implications of any given genetic variant will […]


Wed. July 1, 2015
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New Genetic Mutations Identified in Autism Spectrum Disorders

By: David Shifrin, PhD Science Writer, Filament Life Science Communications A couple of months ago, this blog published a post on two recent papers dealing with new advances in research on the genetics of autism spectrum disorders (ASD). In one, the authors were able to identify autism with high accuracy using gene expression levels. In the […]


Wed. June 10, 2015
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Panel Testing, Part 3: Recommended Use for Panel Tests

By: David Shifrin, PhD Science Writer, Filament Life Science Communications Last September, The National Comprehensive Cancer Network published an update to their guidelines for Genetic/Familial High-Risk Assessment for Breast and Ovarian cancers. This extensive document included a large section discussing the use of multi-gene panel testing. Again highlighting the uncertainty and concern, the first paragraph of […]


Tue. June 2, 2015
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Panel Testing Part 2: Actionable Data…again

By: David Shifrin, PhD Science Writer, Filament Life Science Communications Continuing on from the previous post broadly describing the issues around genetic panel testing, this post will go into a bit more detail regarding panel tests and the ever-present issue of actionable data and variants of unknown significance. Researchers and clinicians are pressing forward in determining […]


Fri. May 22, 2015
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Panel Testing Part 1: The genetics arm race leads to clinical questions

By: David Shifrin, PhD Science Writer, Filament Life Science Communications Bundling. It’s done in practically every industry, from adding optional features on a new car, to internet and phone service, to academic journal subscriptions. Medicine is no exception. These days, bundling is common in the world of genetic testing. The use of panel tests has increased […]


Thu. May 14, 2015
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New Recommendations for Prenatal Genetic Testing

By: David Shifrin, PhD Life Science Consultant and Freelance Writer The European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG) have released new recommendations for prenatal testing. At the center of the discussion and recommendations is the use of non-invasive prenatal testing (NIPT) as a complement or alternative to procedures […]


Thu. April 30, 2015
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