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.

Now in its fifth year, this government website is considering some exiting additions that may make its digital family history tools even more useful.

Go to https://familyhistory.hhs.gov and explore the site. In less than 5 minutes, you can outline most of your first and second degree relatives and enter your own health information. Then you can share the saved files with extended family members to complete information about themselves. 

 Before you start asking personal health questions of family members, be prepared to explain why. Throughout The Genome Book, we review the inherited components of many conditions, some of which may run in your family. And know that not everyone will want to respond when everyone is sitting around the table; some may prefer to talk later by phone or email. A few may not even want to respond at all, feeling this is information best shared only with a physician. As more family information becomes available, the ‘hold outs’ may realize their health status may be essential and they may better understand the need to share – or it may not have been relevant.

 Also, select your timing. “Uncle Charlie, please pass the potatoes, oh – and how was your colonoscopy?” could stop your effort in its tracks. However, by letting family members know you want to start this as a new family tradition, they may come more prepared to share.  The health history can be collected this year and quickly updated every Thanksgiving when the family gathers.

 As a genetic counselor in practice for thirty years, I figure that I’ve helped more than 6,500 people compile or understand their family health histories. While I may not have seen it all, I’ve certainly seen a lot. So if you have any questions, please let me know by sending an email to the address on our blog’s home page or posting a comment.

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.’’

People in the genetics world know that genetic information can provide valuable health insights now, and that many more will be found. To them, the idea of a full genome analysis is fascinating.

But out there in non-genetics land, others aren’t so sure. Many people continue to believe that DNA determines one’s fate, despite all the evidence to the contrary. For most of us, genetics is only one of several important factor in our health. But in the realm of ideas, the messages of Gattaca still hold sway.

That dictomy is what makes genetics so fascinating, and so difficult to bring to everyday life. The prospect of personal genetic knowledge hits people at a deeply personal, emotional level, raising issues of identity, free will, and one’s hopes for the future. Many people aren’t sure they want to throw a DNA readout into that mix.

In an excellent commentary last week, Hank Greely, an expert in the legal and social issues surrounding genetics,  pointed out all the ways that we’re not ready to handle genetic knowledge. I’d take it one step further — I’m not sure many people are ready even to discover their genetic makeup, let alone figure out how to handle the information once they have it.

When the low-cost genome race is won, it won’t ultimately be genomes that are sequenced, but people. Without more accounting for the human factor, that fact may leave those in the sequencing competition wondering where to go after they’ve crossed the finish line.

Some answers to this dilemma are out there, in the communities of people who’ve already made important decisions based on genetic information. We’ll talk more about some of those solutions in upcoming posts.

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.

You’ll find the essential terms of genetics, such as “base pair” or “X-linked.” Some terms that relate to broader health-related concepts, such as “pharmacogenomics,” are also included. But only a few actual health conditions made the list. You’ll find some rare disorders widely known to be genetic, such as Huntington’s Disease and hemophilia. And there’s a scattering of common health conditions where genetic factors have been fairly well identified, including diabetes and prostate cancer.

Lots of other common conditions were left out. Where, for example, is breast cancer? The glossary does include the BRCA gene variants, but doesn’t include breast cancer itself, even though other BRCA is far from being the only genetic factor involved in breast cancer. Nor does the glossary include colon cancer. The genetics of these conditions are fairly well understood,  both in terms of rarer single-gene factors and more common multi-gene factors. And these diseases affect hundreds of thousands of people. If you are going to help people understand the role that genetics can play in health, these aren’t conditions you want to leave out of a new public education campaign.

If you’ve got other nominations for terms or conditions to include, please weigh in! At the bottom of the glossary index page, you’ll find a link that lets you suggest terms directly to the glossary minders. Or you can post a comment here or email us, and we’ll gather suggestions and submit them.

You’ll find many of the same terms defined in our book. We talk about genetic factors and issues in diabetes in Chapter 4, and a variety of cancers in Chapter 5.

And if you’d rather have your genetic terms defined in silence, NGHRI has a text-based glossary as well.

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.”

Only about one in four doctors, according to the LAT, said they had “any type of education in the use of genetic testing to guide medication decisions.” Only about one in 10 felt he or she had the necessary training to make good use of pharmacogenomics, the practice of using a patient’s genetic information to personalize their medications. Pharmacogenomics, while still relatively new, is widely considered to be an important medical use of genomic knowledge in the years ahead.

While the doctors in the survey didn’t feel prepared for the genetic age, they did know it’s here. According to the LAT, about 13 percent had ordered or recommended a genetic test for a patient in the last six months — but twice that many said they would do so in the next six months.

In our book, we’ve got the basics of genetics covered in Chapter 1, and an overview of putting personal genetic information to use in Chapter 2.

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.

With its focuses on Kaiser members, researchers will have access to participants’ health information. Since most common health conditions arise from a combination of genetics and “environment” (science-speak for non-genetic factors such as food choices, exercise habits, and air quality), being able to blend genetic information with health records is a coveted prize to many researchers.  The average age of biobank participants is 65, allowing researchers to look at genetics and health outcomes over a longer span of time. Diseases of aging, such as heart disease, will be a key focus of the project.

But this won’t be easy. It’s notoriously difficult to tease clear answers out of a thicket of thousands of DNA profiles and personal health records. The project has two years to pull all that information together in a usable way.

As with other reputable biobanks, participation in the Kaiser biobank is voluntary. If you are thinking about joining a biobank or other genetic research project, you can find some general information in Chapter 2 of our book. You’ll find specific information on protecting your privacy in Chapter 8.

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.

Chapter Two of our book looks in detail at family health histories, starting on page 43.

We’ll post some reviews later on. In the meantime, if you’ve tried the new toolkit, what did you think?