Researchers are concerned about the lesser-known genes included in the test and also point out that little published research exists to support use of these genes for clinical laboratory testing
Gene-panel tests for inherited cancers were scrutinized by a group of 17 prominent international genetic researchers in a study published by the New England Journal of Medicine (NEJM) this summer titled “Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk.” These experts pointed out that, for many of the genes included in these test panels, there remains much uncertainty about their role in various cancers and other diseases.
What will be of greatest interest to pathologist, Ph.D.s, and medical laboratory professionals currently performing molecular diagnostics assays and genetics is that these experts proposed greater regulation of unvalidated gene-panel tests for inherited cancers. In the NEJM, the authors provided some examples of genetic tests, such as those offered by Myriad Genetics, Inc. (NASDAQ:MYGN), Ambry Genetics, Invitae (NYSE:NVTA), and Illumina, Inc. (NASDAQ:ILMN) and noted that risks posed by many mutations occurring on these panels are unknown.
These panel tests can include more than 100 genes, 21 of which are an indication of breast cancer, including BRCA1 and BRCA2, stated the paper. (more…)
Experts believe compressive sensing could find wide application in medical laboratory and pathology testing, particularly where large amounts of data are generated
Pathologists and medical laboratory managers may soon be working with a new tool in their labs. It is called “Compressive Sensing” (CS) and it is an innovative mathematical approach that quickly and efficiently gets an answer by sampling large volumes of a data.
Currently compressive sensing is used in medical imaging technology. CS reduces radiation and speeds up imaging diagnostics. Some experts familiar with this technology believe that it can be used in those clinical laboratories that are working with new diagnostic technologies that generate large volumes of data. CS could dramatically reduce times to analyze results and lower the cost of expensive tests like whole-genome sequencing. (more…)
American Gut is using test results to create a microbiome database for use by researchers to better understand how microbes impact human health
Have you ever wondered what lurks in the dark corridors of your bowels? Now you can find out. Two entrepreneurial organizations—one a not-for-profit and the other a new clinical lab company—are charting new medical laboratory territory with the offer of an inexpensive poop test that reveals the type of microbes residing in your gut.
Where to Get Your Gut Microbes Analyzed
The not-for-profit organization American Gut, or British Gut in the United Kingdom (UK), which launched as crowd-funding projects on FundRazr, involve a private research project called the Human Food Project (HFP), which was initiated to compare the microbiomes of populations around the world. The Human Food Project is seeking a better understanding of modern disease by studying the coevolution of humans and their microbes.
People who pay American Gut’s $99 test fee (£75 for the UK project) receive a test kit to collect a stool sample to mail back for DNA sequencing. The test results will be provided to participants, but also benefit microbiome research. (more…)
Researchers, including pathologists, can use Apple’s ResearchKit app to help collect and share genetic information about cancers and other diseases while building a huge genome database
By providing tools to allow users to be more productive in working with healthcare big data, several Silicon Valley giants hope to increase their presence in medical services. The latest company to enter the field is Apple Computers (NASDAQ:AAPL). In March it announced the availability of ResearchKit, an open-source software framework that turns the iPhone into a research tool.
Pathologists and clinical laboratory scientists have a stake in the healthcare big data trend, since more than 70% of the typical patient’s permanent medical record consists of medical laboratory test data. Thus, the products introduced by Apple, Google, and other Silicon Valley firms that are designed to help physicians and other professionals work with healthcare big data have the potential to transform the way value is harvested from these data sets.
It was Google (NASDAQ:GOOG) that took the first leap into the medical research arena. Last year, it launched Google X Life Sciences to assemble a database of the human genome. (See Dark Daily, “Google Takes First Steps to Create World’s Largest Human Genome Database as Part of Wider Strategy to Become a Major Player in Healthcare ‘Big Data’” October 14, 2014).
Apple’s strategy is to support researchers. Its ResearchKit is designed to be an open-source software framework that turns the iPhone into a research tool. It enables development of apps that help medical researchers recruit study subjects and collect health information through iPhone’s sensors and surveys. Because it is an open-source platform, researchers also can create apps for Android and Windows devices. (more…)
Most pathologists know that CRISPR can permanently repair DNA to eliminate diseases that plague families, but also could be used for less ethical purposes, say experts
Gene editing is a rapidly developing field that is expected to create new diagnostic needs that can be filled by pathologists and by new medical laboratory tests. However, experts in bio-ethics are voicing concerns that gene editing for clinical purposes is moving forward without proper consideration of important ethical issues and are calling for a moratorium on use of gene editing for clinical purposes.
What is speeding the development of gene editing is use of the tool known as CRISPR/Cas9. It is a gene-editing tool that makes it possible to genetically modify DNA for therapeutic purposes. It provides medical scientists the ability to repair damaged genes that cause or predispose individuals to disease. (more…)