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Posts Tagged ‘Mark Lemley’


Genomics in Medicine – Tomorrow’s Promise

Reporter: Larry H Bernstein, MD, FCAP

Genomics in Medicine: Today’s Issues, Tomorrow’s Promise

KM Beima-Sofie, EH Dorfman, JM Kocarnik, MY Laurino
Feb 13, 2013 Medscape Genomic Medicine

What do you think about these issues before reading this piece?

The Broader Implications of Genetic Sciences
The 62nd annual meeting of the American Society of Human Genetics (ASHG), which was held in San Francisco, California, in November 2012, featured a diverse array of research in basic, clinical, and population science contributed by human geneticists across the globe.
Genetic Sequencing Moves Beyond the Laboratory
Several presentations at the meeting focused on the lessons learned from the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project. The goal of the project was to
  • develop and validate a cost-effective and high-throughput sequencing technology
  • capable of analyzing the DNA sequence in the exome, which
  • consists of all protein-coding regions in the human genome.
At previous ASHG meetings, presentations and discussions largely focused on
  • the development of sequencing technology and on applications of this technology for research.
Now that sequencing is an increasing reality, this year’s conference featured presentations on
  • what to do with the resulting information, in both research and clinical settings.
Issues discussed include the challenges of
  • interpreting sequence data,
  • determining which results should be returned to various parties, and
  • the potential impacts of different testing techniques.
Results from the NHLBI Exome Sequencing Project and other projects are fueling the discussion on
legal issues surrounding gene patenting, a hotly debated topic that is currently under consideration by the US Supreme Court. During a plenary session on gene discovery and patent law,
Of particular focus was the lawsuit brought by the American Civil Liberties Union against Myriad Genetics,
  • contesting the company’s patent of the BRCA1 and BRCA2 genes for hereditary breast and ovarian cancer.
At present, Myriad has exclusive rights to offer clinical genetic testing for these genes; one of the main arguments of the lawsuit is
  • that gene patents hinder the pursuit of confirmatory tests and limit the testing options available to women.
DNAPrint Genomics

DNAPrint Genomics (Photo credit: Wikipedia)

English: Exome sequencing workflow: Part 2. Ta...

English: Exome sequencing workflow: Part 2. Target exons are enriched, eluted and then amplified by ligation-mediated PCR. Amplified target DNA is then ready for high-throughput sequencing. (Photo credit: Wikipedia)

Cost per Megabase of DNA Sequence (Why biologi...

Cost per Megabase of DNA Sequence (Why biologists panic about compute) (Photo credit: dullhunk)

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