The Latest News, Data & Insight From The World Of Genetic Testing

Last month, leading health plan executives joined us for an in-depth discussion on managing the cost, quality and value of genetic testing. The exchange offered an inside look at their efforts to manage genetic testing and included practical advice for health plan leaders seeking to better manage this space. Highlights from the discussion include: Costs are rising fast. “Our spend […]

By Rob Metcalf Since its foundation in 2010, Concert Genetics has delivered innovation, transparency and standardization to the way clinicians, laboratories, healthcare provider organizations and health insurers navigate the complex and growing field of genetic testing. I’m thrilled to have the opportunity to join Concert Genetics for the next phase of the journey. Mark and I have […]

By Mark Harris, PhD   It’s an exciting day for Concert Genetics. Today we announce – and officially welcome – Rob Metcalf as our new Chief Executive Officer. I couldn’t be happier to have Rob on our team. As we move from a startup to a growth-phase company, he brings the right skill set and […]

This week, our colleagues at PreventionGenetics will be hosting a webinar about testing for deletions and duplications. Knowing this is a pertinent topic to many of our readers, we’re pleased to share details about their event. It’s a free session featuring Laboratory Director Dr. Diane Allingham-Hawkins. Register here. A webinar from: Deletions and Duplications: Why They’re Important and How […]

Since the launch of Concert Genetics (formerly NextGxDx) in 2010, we have been dedicated to enhancing the transparency of genetic testing data and streamlining the complex processes related to the selection, ordering, and management of genetic tests. As the marketplace has grown to include more than 60,000 unique genetic testing products, we’ve seen how technology and […]

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 […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications The percentage of smokers in the United States declined by almost 15% between 2005 and 2013 (the latest date for which survey results are available), from 20.9% to 17.8% of adults (cdc.gov). However, that still leaves more than 40 million adults who are active smokers. In […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications Another small but important piece has been fitted in to the endless puzzle of genetic predisposition to disease. This time, a gene responsible for a cardiac condition found in ~2% of individuals has been uncovered by researchers at Massachusetts General Hospital. Mitral valve prolapse (MVP) has […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications Last week, we talked about the updated ASCO policy on genetic testing in oncology. With that out of the way, I wanted to take a quick look at two issues that were only mentioned in the accompanying editorial but worth another pass. Authors Paul Yu, Julie […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications A lot of stories get told around the Thanksgiving table that tend to be, well, less than historically accurate. What better time to push family lore just a little bit further than when everyone’s there to join fun? And then there are the old wives tales […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications More medical technology available for a lower price changes the way we interact with and use that technology. Nowhere is this more evident than in medical genetics and its explosive growth over the past couple of decades. To deal with the rapid expansion of next generation […]

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 […]

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 […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications We talk a lot about the value of big data in genetics testing and the importance of having large-scale studies for things like genome-wide association. We don’t, however, talk as much about some of the problems that arise out of huge datasets. Aside from computational challenges, […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications One of the challenges in medical care and genetic counseling is the gap between statistical analysis of issues on a population-wide scale, and the interaction with and dissemination of information to individual patients. The problem is that while trends within large groups can be observed (e.g., […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications The value of genetic counseling for both patients and families has been reinforced by a recent study on colorectal cancer out of MD Anderson Cancer Center. The study, titledHigh Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer and published in the […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications A lot changes in seven years. This is especially true when it comes to technology. Even if the scientific and medical worlds don’t have a direct corollary to Moore’s Law, the principle of amazingly rapid advances in technology and knowledge still hold true. With this space […]

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, […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications Uncovering the etiologies of mental diseases has been a huge challenge for scientists and clinicians alike. The underlying processes that lead to mental illness are multifactorial, with biological, genetic and environmental/lifestyle contributors all playing a role. Though we are still a long way off from a […]

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. […]

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 […]

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 […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications Determining whether a genetic mutation is causative of a specific phenotype or disease is a significant challenge in both basic research and clinical practice. Now, a team of researchers from the National Human Genome Research Institute (part of the NIH) has developed a method to make […]

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 […]

By: David Shifrin, PhD Science Writer, Filament Life Science Communications What happens when a disease becomes resistant to all known therapies? The two instances that first come to mind are multi-resistant bacterial infections, and any number of cancers. In the latter category, metastatic prostate cancer frequently becomes resistant to available therapeutics. Androgen deprivation therapy is a […]

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 […]

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 […]

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 […]

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 […]

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 […]