Aug 22, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
The four exome test kits examined as part of this study failed to deliver quality results, particularly because they often missed some disease-causing mutations altogether
Human exome sequencing is gaining favor among medical laboratories wanting to use this information for clinical purposes. However, the accuracy of some exome-capture test kits available on the market today has come under question.
A team from the Thomas Jefferson University in Philadelphia surveyed the potential false-negative rate of mutations in 56 disease-causing genes produced by four different commercially available human exome-capture test kits. The researchers found that these test kits failed to deliver quality results, sometimes missing mutations altogether, noted a report published by Medical Daily. (more…)
Jul 18, 2014 | Coding, Billing, and Collections, Compliance, Legal, and Malpractice, Laboratory Management and Operations, Laboratory News, Laboratory Pathology
Innovative use of crowdsourcing allows pathologists and genetic scientists to create a sizeable database of BRCA mutations that is accessible to clinicians and patients
There’s a new development in the longstanding battle over proprietary healthcare data versus public sharing of such information. Pathologists and clinical laboratory managers will be interested to learn that, when it comes to genetic testing of the BRCA mutation involved in breast cancer, a public data base of mutations is growing so rapidly that it may become the world’s largest repository of such information.
It was last year when the Supreme Court ruled in the gene patent case of Association of Molecular Pathology versus Myriad Genetics that human genes were not patentable. Following that decision, some financial analysts stated that Myriad Genetics, Inc. (NASDAQ:MYGN) retained a competitive advantage over other medical laboratories due to its huge database of mutations in the BRCA genes. (See Dark Daily, “Supreme Court Strikes down Myriad Gene Patents in Unanimous Vote; Decision Is Expected to Benefit Clinical Pathology Laboratories,” July 1, 2013.) (more…)
May 9, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Pathology
Big Data will play major role as Venter’s team sets out to build world’s largest database of human genotypes, microbiomes and phenotypes
For the second time in recent months, another prominent figure has declared his intention to crack the code of human aging. This time it is scientist and entrepreneur J. Craig Venter, Ph.D., known for his role in sequencing the first whole human genome.
Venter will pursue this goal through a brand new company he launched, called Human Longevity, Inc. (HLI), based in La Jolla, California.
Human Longevity, Inc. Will Compete Against Calico
This is a noteworthy development. Pathologists and clinical laboratory managers already know Venter’s competition in this race is a company called Calico that was founded by several entrepreneurs linked to Google. (more…)
May 7, 2014 | Compliance, Legal, and Malpractice, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Sales and Marketing, Management & Operations
Prenatal testing, the most popular in China, is banned, affecting current projects at providers—another lesson for laboratories in how quickly things change
Genetic testing has been halted in China. This unexpected decree was announced in February. Government officials cited challenges surrounding “ethics, privacy, and the protection of human heredity resources, in a message posted on the China Food and Drug Administration’s website.
Authorities named prenatal DNA tests in particular as an area of concern in genetic testing. This may surprise pathologists and clinical laboratory professionals, who have regularly read about the substantial investments major Chinese companies have made in the field of gene sequencing. (more…)
Mar 21, 2014 | Coding, Billing, and Collections, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
Cloud-based genetic research networks that facilitate collaboration by stakeholders worldwide may solve the most difficult disease challenges, including a cure for cancer
Coming soon to a clinical laboratory near you: cloud-based “big data” genome analysis! A new industry is emerging dedicated to accepting, storing, and analyzing vast quantities of data generated by next-generation gene sequencing and whole human-genome sequencing.
There are already examples of academic departments of pathology and laboratory medicine that have outsourced the storage and annotation of whole human genomes sequenced from tissue specimens collected from cancer patients. The annotated genomes are returned to the referring pathologists for analysis. (more…)
