The Genome Book

Most things in life are ultimately personal. Certain unnamed authors, for example, can launch a new blog with grand ambitions, only to have personal holiday and family matters divert their attention for a few weeks (ahem…sorry about that!). “Personal” often trumps public, beats out ambitious, and generally jumps first in line before many other factors in our lives.

That’s also true in the real world aspects of genetic and genomics. When someone thinks about understanding their genetic code, lots of factors come into play, many of them deeply personal. But in official circles, such personal issues often get relatively little attention. For the genomic era to take off, that needs to change.

That idea may sound counterintuitive. Since everyone’s DNA ultimately so individual, how can personal aspects of testing and genome analysis gotten short shrift? The answer is summed up by four letters – “ELSI.”

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Medical 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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(Note: This post is part of a series on gaps in genetic anti-discrimination laws. In the United States, the Genetic Information Nondiscrimination Act guards against most forms of genetic discrimination when it comes to your job or health insurance. But laws protecting other types of insurance, such as life, disability, and long-term care, are left up to the states. Every week or so, we’ll pick a different state off the map and do a legal review.)

Kansas gives its residents some protections against genetic information being used in insurance decisions, but it looks like these laws leave lots of holes, especially when it comes to life insurance.

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Two 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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So the Genetic Information Nondiscrimination Act guards against most forms of genetic discrimination when it comes to your job or health insurance. But there were some other types of insurance that GINA didn’t touch – life, disability, and long-term care.

Regulating how personal genetic information is used in those areas is left up to the states. And trying to track what each state is doing is like herding those proverbial cats. State legislatures are usually considering multiple laws at once, and it can be hard to tell how a state’s laws regarding genetic discrimination may have changed.

The National Conference of State Legislatures made a valiant attempt to summarize each state’s position, and their online genetic laws list is the one that most people seek out. But it was last updated in early 2008 – an eternity in the genetics world.

And when it comes to California, it looks like things have definitely changed.

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Any woman who’s considered having children knows that age isn’t on her side. Growing older not only makes it harder to have a baby, but also raises the risk that a baby might be born with a genetic disorder. Now, as it turns out, it’s becoming more clear that a father’s age matters as well.

Researchers have been trying to discover why older fathers, usually men in their 50s or above, are more likely to have children with certain genetic disorders. Now, a team of researchers have found a possible reason — Read more »

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.

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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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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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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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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