Archive for the ‘Chapter 2: Reading Your Genes’ Category

Family_ThanksgivingMedical records?

In 2004, the U.S. Surgeon General declared Thanksgiving as Family History Day. What better time to learn about the health history of your family than when so many members are gathered?  

We tend to think of genetics as high tech (and often expensive), but a family health history is a simple, low-cost activity that could become one of the most powerful tools in your personalized medicine tool box.

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Blue_DNA_ACTGTwo headlines regarding genetics hit the wires recently, and together, spoke volumes.

In one, gene sequencing firm Complete Genomics announced that it had sequenced a whole human genome for $1,700 — a significant turn in the race to deliver an affordable, high-quality readout of a person’s entire DNA sequence.

In the other, members of a family known to carry a hereditary form of colon cancer discuss getting a genetic test — and some say they’d rather not know. “If it came back positive,” said one, “I think I would feel like it would be some kind of countdown.’’

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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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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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Family_tree_green_background

Genetic Alliance just launched a site called Does It Run in the Family?, which lets you create personalized health histories online or in booklet form. One new twist — this tool goes beyond the family.

From the Genetic Alliance announcement: “The online extension of the printed toolkit allows users to create customized materials for any group of people that has something in common, including: a family name, geography, job, culture, race or ethnicity, age, gender, sexual orientation, disability or other health condition, or a shared interest.”

We haven’t taken this toolkit for a test drive yet, but it will be interesting to see how it compares to earlier ones such as My Family Health Portrait from the U.S. Surgeon General.

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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.