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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

http://www.medscape.com/viewarticle/778921_5

• Genetic Sequencing Moves Beyond the Laboratory
• Who Should Have Access to Genetic Information?
• Noninvasive Prenatal Genetic Testing: Continuing Controversy
• Looking Back to Look Ahead

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,

• attorneys Hank Greely and Mark Lemley from Stanford University and Lori Andrews from ITT Chicago-Kent College of Law
• were joined by molecular biologist Gert Matthijs from the Center for Human Genetics in Belgium in sharing their perspectives on this topic.

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 (Photo credit: Wikipedia)

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 biologists panic about compute) (Photo credit: dullhunk)

Related articles

• Genome sequencing of the Healthy (pharmaceuticalintelligence.com)
• A human genome in minutes, and what it will mean to you (sciencegremlin.wordpress.com)
• Four barriers that must fall before the personalized medicine revolution can start (medcitynews.com)
• Directions for genomics in personalized medicine (pharmaceuticalintelligence.com)
• What is the future for genomics in clinical medicine? (pharmaceuticalintelligence.com)
• Genomics & Ethics: DNA Fragments are Products of Nature or Patentable Genes? (pharmaceuticalintelligence.com)
• The Initiation and Growth of Molecular Biology and Genomics (pharmaceuticalintelligence.com)
• CRACKING THE CODE OF HUMAN LIFE: The Birth of BioInformatics and Computational Genomics (pharmaceuticalintelligence.com)
• 2013 Genomics: The Era Beyond the Sequencing Human Genome: Francis Collins, Craig Venter, Eric Lander, et al. (pharmaceuticalintelligence.com)
• Understanding the Role of Personalized Medicine (pharmaceuticalintelligence.com)
• http://venturebeat.com/2013/01/27/the-personalized-medicine-revolution-is-almost-here/
• ERCC1 Isoform Expression and DNA Repair in Non–Small-Cell Lung Cancer

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Posted in Biological Networks, Gene Regulation and Evolution, Biomarkers & Medical Diagnostics, Cell Biology, Signaling & Cell Circuits, Computational Biology/Systems and Bioinformatics, Disease Biology, Small Molecules in Development of Therapeutic Drugs, Genome Biology, Genomic Testing: Methodology for Diagnosis, Health Economics and Outcomes Research, Health Law & Patient Safety, International Global Work in Pharmaceutical, Medical and Population Genetics, Molecular Genetics & Pharmaceutical, Personalized and Precision Medicine & Genomic Research, Pharmaceutical Industry Competitive Intelligence, Population Health Management, Genetics & Pharmaceutical, Scientist: Career considerations, Technology Transfer: Biotech and Pharmaceutical | Tagged American Civil Liberties Union, American Society of Human Genetics, DNA, DNA Sequencing, Exome sequencing, genetic testing, genomics, Mark Lemley, Myriad Genetic, Nucleic acid sequence | 3 Comments

3 Responses

1. on March 27, 2013 at 5:45 PM | Reply Ethical Concerns in Personalized Medicine: BRCA1/2 Testing in Minors and Communication of Breast Cancer Risk | Pharmaceutical Intelligence

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2. on March 27, 2013 at 7:00 PM | Reply Genomic Liberty of Ownership, Genome Medicine and Patenting the Human Genome | Pharmaceutical Intelligence

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