Archive for October, 2009

As a recent  article in the Journal of the American Medical Association noted this month, not all cancers are created equal. Some are less aggressive and easier to treat than others.Medical genetics

Now, as new tools to reveal these differences emerge, the JAMA article encourages researchers and clinicians to rethink screening for breast and prostate cancer.

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Blue_ACTG

In the latest online edition of Nature Genetics, researchers at powerhouse genetics center Cold Springs Harbor Laboratory report that they have identified an important mutation that, while rare, significantly increases a person’s risk of developing schizophrenia. (If the Nature Genetics looks like only so much jargon, you can find a more readable overview here instead.)

In schizophrenia genetics, it’s becoming increasingly clear that numbers matter.

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Dictionary Series - Health: diabetes

Not sure how to pronounce “mitochondria“? Want to listen to human genome expert (and current NIH director) Francis Collins serve as your own personal talking genetics dictionary, defining concepts such as “personalized medicine“? Federal gene geeks at the National Human Genome Research Institute have unveiled their latest online talking glossary of gene-speak.

It’s interesting to see which terms made the cut — and which didn’t.

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Close View of a DNA Strand

Gene therapy — the use or manipulation of genes to address disease — doesn’t get much attention in general health news. There were notable failures and problems early on, and since then, efforts have been more low-key.

But every now and then, a new study makes it clear that gene therapy researchers keep trying, and sometimes succeed.

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Medical Records & Stethoscope

Still not sure how to tell a SNP from a second-degree relative? You aren’t alone — and your doctor may be one of those keeping you company.

The LA Times reports on a recent survey of 10,000 physicians conducted by the American Medical Association and pharmacy benefits manager Medco. The survey asked physicians about their understanding of genetics, and comfort with using genetic information in their practice.  And based on their answers, it’d be fair to say most of the doctors surveyed would describe their level of comfort as “Hmmm…just about none.”

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Blue_DNA_ACTGIn California, one of the state’s biggest health care providers has teamed up with one of its most important research centers to open a powerful new genetic biobank. Kaiser Permanente and the University of California, San Francisco will study the genomes of more than 100,000 Kaiser members who donated their DNA, funding the work with a $25 million grant from the National Institutes of Health.

Biobanks aren’t new, and some, such as Great Britain’s UK Biobank, are larger. But the new biobank is still noteworthy, both for its ambitions and the challenges it will face. If you are thinking about joining a biobank or genetic research project, you’ll want to pay attention to what is happening with this one.

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"As you read these pages, I hope you will be inspired to explore how you might use genetic information to improve your own health."
- Catherine Wicklund, MS, CGC
President, National Society of Genetic Counselors, 2007
from her foreword to The Genome Book

About the authors

April Lynch is an author whose work focuses on health and genetics. As an award-winning journalist, she directed coverage of science, health, and medicine for The San Jose Mercury News, Silicon Valley's leading newspaper. She has also written for a variety of other organizations, including leading university textbook publisher Pearson Education and genomics firm Navigenics. Her work on the book and this blog reflects her views, and not those of any employer or organization.


Vickie Venne, MS, CGC, is celebrating 30 years as a genetic counselor. She worked in prenatal, pediatric, and laboratory settings before joining the Hunstman Cancer Institute at the University of Utah. In addition to caring for patients, she has taught for the California Department of Education and the University of Utah's graduate program in genetic counseling. She has also served as president of the National Society of Genetic Counselors and the local affiliate of the Susan G. Komen Breast Cancer Foundation. Her work on the book and this blog reflects her views, and not those of any employer or organization.