Q&A: More Patients Experience Inadequate Genetic Testing, Advocacy Official Says

January 07, 2009

Sue Friedman, executive director of the patient advocacy group Facing Our Risk of Cancer Empowered, or FORCE, discusses how the current regulatory and marketing environment for genetic tests has affected patients the organization represents.

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In this issue of Pharmacogenomics Reporter

Young Investigator Profile

Gurinder Singh "Mickey" Atwal

Cold Spring Harbor Laboratory
Assistant Professor

Understanding Many-Body Biological Systems

Atwal's research is focused on developing and deploying mathematical and computational tools to address quantitative principles governing the behavior of many-body biological systems including molecular interactions in a single eukaryotic cell to the evolution of the species Homo sapiens. His lab is also working on population genetics with a view to understanding the evolutionary forces at play on the genome and to underpin the genetics of some human disease.
Blog

Vanderbilt Adds GPU Cluster

Vanderbilt University adds GPU cluster to boost its HPC resources.

July 30, 2010

Lee Hood Promotes P4 at AACC

The founder of the ISB emphasized the importance of adopting a predictive, personalized, preventive, and participatory approach to health and disease.

July 30, 2010

One Day, But Not Today

The CDC tells physicians that personal genomic tests "are not ready for prime time."

July 30, 2010

An Ebola Surprise

Researchers find more viruses in vertebrate genomes.

July 30, 2010
Papers of Note

Genome-Wide Meta-Analysis for Serum Calcium Identifies Significantly Associated SNPs near the Calcium-Sensing Receptor (CASR) Gene
Kapur et al., PLoS Genetics
An international team of researchers reports its genome-wide association study of serum calcium's association with SNPs in or near the calcium-sensing receptor gene on 3q13. "This genome-wide meta-analysis shows that common CASR variants modulate serum calcium levels in the adult general population," the researchers write, adding that their "results show that CASR is a key player in genetic regulation of serum calcium in the adult general population."

Mechanisms and implications of transcription blockage by guanine-rich DNA sequences
Belotserkovskii et al. PNAS
Researchers at Stanford and Tufts investigate various DNA sequences that can interfere with transcription and genomic stability due to their unusual structural properties. Sequences containing stretches of G-rich homopurine homopyrimidine are implicated in regulation of immunogenesis, genomic translocations, and telomere function, the researchers write. "We conclude that transcription blockage is due to formation of unusually stable RNA/DNA hybrids, which could be further exacerbated by triplex formation," the team says.
People on the Move

The National Institutes of Health has appointed Alan Guttmacher to serve as director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Guttmacher started working with NIH as a special assistant to the director of the National Human Genome Research Institute, then Francis Collins, and he became NHGRI's deputy director in 2002 and acting director in 2008. While at the NHGRI, Dr. Guttmacher also oversaw the NIH's involvement in the Surgeon General's Family History Initiative, an effort to encourage Americans to learn about and use their families' health histories to promote personal health and prevent disease.

Didier Hirsch has been named CFO and senior VP at Agilent Technologies. Hirsch has been acting CFO and VP of corporate controllership and tax at the company since April. Before joining Agilent, he was director of finance and administration for Hewlett-Packard Europe, Middle East, and Africa, and before that he held a similar post in HP's Asia Pacific business.

Nicholas Naclerio has been named VP of corporate development at Illumina. Naclerio formerly was co-founder and executive chairman of Quanterix. In the new role, he will be responsible for licensing, strategic planning, and acquisitions. He also previously raised money for Boreal Genomics, O-Link Bioscience, and Fluxion Bioscience, and he served as president and CEO of ParAllele BioScience.
Upcoming Events

Conferences, Meetings & Deadlines

Eukaryotic Gene Expression
Jul. 27-Aug. 16 / Cold Spring Harbor, NY
CSHL Workshop

Yeast Genetics and Genomics
Jul. 27-Aug. 16 / Cold Spring Harbor, NY
CSHL Workshop

Open Science Summit 2010
Jul. 29-31 / Berkeley, Calif.
Students for Free Culture, Berkeley

3rd ASM Conference on Enterococci
Jul. 30-Aug. 2 / Portland, OR
American Society for Microbiology

Stem Cells
Jul. 30-Aug. 5 / Cold Spring Harbor, NY
CSHL Workshop

Abstract & Registration Deadlines

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Science
An international research team led by investigators in Denmark and Sweden has reportedly developed a new single-molecule DNA barcoding method. The team said in a paper in PNAS that their mapping method may gain favor not only for finding long-range DNA variations — for instance, to distinguish potential pathogens or find telltale changes in the human genome — but also for organizing DNA sequence data.
Business
The US Food and Drug Administration sent letters this week to 14 companies warning them that they are marketing unapproved genetic tests that require 510(k) approval or pre-market approval from FDA as medical devices. The letters, which were sent to firms including SeqWright and Interleukin Genetics, are similar to a set the agency sent out in June to 23andMe, Decode Genetics, Navigenics, and Illumina.
Funding
The National Human Genome Research Institute will move into the next phase of its electronic medical records research program with grants that will give around $25.5 million over the next four years to fund investigators and to start a coordinating center to support the research. The program aims to combine EMR technologies with DNA biorepositories for use in large-scale, high-throughput genomics research projects.
Genome Technology Magazine
This month's Case Study focuses on SNIP-seq, a novel way to identify SNPs from population sequence data. Scripps Research Institute's Vikas Bansal, who developed the method, says it is highly accurate and reduces the rate of false positives.

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Q&A: More Patients Experience Inadequate Genetic Testing, Advocacy Official Says

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In this issue of Pharmacogenomics Reporter

Young Investigator Profile

Blog

Papers of Note

People on the Move

Upcoming Events

Science

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Funding

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