Feb 26, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
Researchers at Penn State identified 160,000 ‘transcription initiation machines’ throughout the human genome
DNA “dark matter” may have something in common with comedian Rodney Dangerfield, who liked to say, “I don’t get no respect!” As many pathologists know, for years the human exome that has been the focus of most research. This is the 1% of the human genome that contains the genes that produce proteins and do other useful functions.
Meanwhile, the remaining 99% of the human genome—sometimes called “junk DNA” and generally known as dark matter—got relatively little attention from researchers. But that is changing. At Pennsylvania State University, a research team has discovered that coding and noncoding RNA, or genomic dark matter, originates at the same types of locations along the human genome.
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Sep 18, 2013 | Compliance, Legal, and Malpractice, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
Family of Henrietta Lacks, who died in 1951, will have a say in the research use of the HeLA cancer cells
Patient privacy rights involving genetic information has gone to a new level. Pathologists and clinical laboratory managers will want to understand the legal precedents and new standards established in an unprecedented agreement between the family of a woman who died in 1951 and the growing research establishment studying her cervical cancer cells following her death.
It is a human interest story that attracted global media attention this summer. The immortal cancer cells of Henrietta Lacks—known in research laboratories as “HeLA” cells—are finally coming under legal protection after more than 60 years of travelling the globe.
It was 1951 when Lacks died of an aggressive form of cervical cancer, but her cancer cells were grown without consent of relatives and have been used worldwide in cancer research since her death. Lacks’ living relatives sought and recently obtained a legal agreement with the National Institutes of Health (NIH) to protect their DNA privacy, according to a story published in USA Today. (more…)
May 29, 2013 | Digital Pathology, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
Pathologist Mark Rubin, M.D., is named to direct this early effort to adapt diagnostic and gene sequencing technologies to support personalized medicine
Following several years of experience with whole genome sequencing of tumors, two premier medical institutions announced their intent to move to the next step and establish an institute to support precision medicine. A prominent pathologist was named to head up this new institute.
Weill Cornell Medical College and New York-Presbyterian Hospital established a new, cutting-edge translational medicine research facility. It is called the Precision Medicine Institute and will use patients’ unique genetic profiles to develop individualized approaches for treating prostate cancer. (more…)
May 6, 2013 | Digital Pathology, Laboratory Management and Operations, Laboratory News, Laboratory Pathology
Because of isolation from the worldwide DNA pool for the past 1,200 years, Faroese population is vulnerable to recessive gene disorders
Because of the dramatic—and still falling—cost of DNA sequencing, an ambitious project is launching with the goal of sequencing the full DNA of all 50,000 residents of the Faroe Islands. When completed, this project has the potential to reshape molecular diagnostics and clinical laboratory testing.
FarGen is the name of this effort and pathologists and clinical laboratory managers will want to follow its progress. Organizers of this unique effort expect that it will speed up the use of personalized medicine in mainstream medicine. This tiny, self-governing Danish land, located between Iceland and Norway, is moving forward with plans to decipher complete DNA sequences for every one of its 50,000 citizens. (more…)
Jan 4, 2013 | Digital Pathology, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
Goals are to use whole gene sequencing to develop better clinical laboratory assays in support of personalized medicine
Creating new clinical laboratory tests to support personalized medicine is one goal of a unique collaboration recently announced that involves the pathology department at Beth Israel Deaconess Medical Center (BIDMC) and GenomeQuest, Inc. (NASDAQ:GQ). The two collaborators are expanding a relationship launched several years ago that involved doing whole genome sequencing of tumors.
More specifically, the expanded relationship will be a two-year collaboration to develop whole-genome analysis (WGA) applications for personalized medicine. The move signals pathologists and clinical laboratory managers that first movers are taking steps to address the growing need for clinical genomics informatics infrastructure.
“The plummeting cost of sequencing and the increasing volume of predictive, public studies makes the clinical application of genomics not just a practicality but a healthcare imperative,” declared GenomeQuest CEO Richard Resnick. “We believe that our collaboration with a combined innovation and delivery leader like BIDMC is a major step forward in expanding genomics and its rewards from the bench to the bedside.” (more…)
