Do you know that for as little as a $100 and a DNA swab of your cheeks, a company can reveal your family tree and ancestral homeland?

Well, don’t believe them! Don’t believe a company who will tell you you’re descended from Genghis Khan, or Napoleon Bonaparte or some (in)famous person in history.

  According to researchers who analyzed genetic ancestry testing, it’s a common misconception that the test can reveal information about an individual’s ancestry. In reality, genetic tests will only tell you that there are people in the world who share your DNA pattern, but these tests can not tell you where your ancestors lived or the ancient somebody you’re related with.

Unless of course, they have DNA on those people too.

In fact, genetic ancestry test can not also tell you about your complete family tree unless everyone that’s remotely related to you also take the test, or you’re a member of the royal families!

A genetic family tree, also known as pedigree, like the one shown above, require every member of the family to submit their DNA and other relevant personal information. But if you think submitting your cheek swabs will tell you what specific part of the world your ancestors came from, forget it. Save your $100. Your grandparents can probably tell you more.

Image: University of Wisconsin

DNA testing on the deceased is hard enough, but on 3,000 year-old mummies?!

Burial mask of mummy King Tutankhamun. Image: Newscom

But that’s exactly what Egypt hopes to do with its most famous mummy King Tutankhamun and the two fetuses found in his tomb. After ten years of refusal, Egypt’s chief of antiquities Zahi Hawass finally allowed DNA tests to discover the lineage of King Tut. King Tut only lived for 19 years in ancient Egypt and reigned for nine years, but he became famous for the mysteries surrounding his life and abrupt death. His discovery in 1922 was a magnificent surprise. His secret tomb remained untouched by thieves, and with him were buried more treasures than any royal tomb ever found. The identity of his parents were never known. He supposedly married the daughter of Egypt’s most beautiful queen but they had no surviving children. But buried with the Egyptian Boy King were two stillborn fetuses!

Two female fetuses were buried with the famous pharaoh and Dr. Hawass and his team want to find out if they are genetically related to Tut, or if they were placed in his tomb to allow him to “live as a newborn in the afterlife.”

So how does one conduct DNA testing on King Tut and his kids? Mummy DNA is especially tricky to study because the embalming process that preserves a mummy’s appearance destroys its genetic material. But the process already had some breakthrough when the identity of Pharaoh Hatshephut, ancient Egypt’s most famous queen ruler, was verified through DNA using a tooth that was found in her tomb. It’s expected that King Tut will go through the same process. In a controlled environment, the tooth enamel will be thoroughly cleaned to remove contamination. Then the tooth is grilled to get to the inner pulp, which would have “clean DNA”. The DNA will then be compared to the genetic material of other mummies related to Tut.

Hawass and other experts say it may take up to four months to even get partial results from the DNA tests. But I think the public interest won’t wane by that time. King Tutankhamun is on display at the de Young Museum in San Francisco from now until March 28, 2010 and hopefully we find out the mystery behind this Boy King.

Want to know what King Tut looks like behind that burial mask? Check out this National Geographic cover of King Tutankhamun. It’s really cool!

Image: Newscom

Will a new prenatal genetic test create designer babies? That’s one of the questions raised as news that a universal embryo test could be available next year.

The current method for prenatal genetic testing involves either amniocentesis or chorionic villus sampling (CVS) to get embryo fluids or placenta cells from a pregnant woman’s abdomen. The placenta or placental fluids contain cells generated by the fetus. These cells are used to identify chromosomal abnormalities that can affect a baby’s survival or capacity at birth. Prenatal genetic tests are mainly used to provide information to the parents about their unborn child’s genetic condition before birth, so they can make informed decisions and manage the pregnancy better.

Unfortunately, the current methods are invasive and tests can take up to a month before results are known. And these tests don’t provide information about other genetic conditions that don’t show up on chromosome changes.

Today, a BBC report reveals that a “universal embryo test” may soon provide information on 15,000 genetic conditions… at least and for the meantime, in theory. The test is called “Karyomapping” which looks for abnormalities in the fetus’ DNA by comparing his genome with the parents. The technique maps all of the fetal chromosomes, so it can check for any gene before the baby is born, or even years after birth. The technique can potentially identify non-life-threatening genetic conditions, and so open a possibility for creating “designer babies”. Hence, once the test is approved for use, only a number of conditions – usually life-threatening -  will be allowed to be tested using karypmapping. For now.

Image: sxc

Last month I told you about an innovative partnership that brings community healthcare into the 21st century. The Genomic Medicine Institute was launched at Silicon Valley’s El Camino Hospital together with DNA Direct to enable physicians and their patients access to leading-edge genomic services.

Physician studying DNA radiograph. Image: Newscom

Genomic Medicine Institute was created so that patients can be better directed in their decisions about their medical conditions, especially when it comes to using genetic tests and counseling. For example, when someone finds out she has breast cancer, one of the questions that is asked is will she pass it to her daughter? Should she tell her sisters about it? Should she have mastectomy? Should her daughter have mastectomies? Difficult questions like these can best be answered when the physician and a genetic counselor work together to get patients a comprehensive answer.

And the people of Silicon Valley, California have that kind of access with the newly launched Genomic Medicine Institute.

I talked with DNA Direct CEO Ryan Phelan about some of the details that her company is doing as partner of the Genomic Medicine Institute:

• DNA Direct is a “guidance and decision support” for genomic medicine.
• The company provides education and support for the physician in making informed decisions about his patient’s medical needs, including genetic issues.
• The company also provides information and counseling for the patient through their expert genetic counselors.
• DNA Direct is not a genetic testing company and does not make money off testing services.

Ryan Phelan talked about these points in detail in my interview, which you can read after the cut.

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In recent years, more and more genetic tests and therapies have become available for patients, physicians and the interested individual. But how does one know which tests to take or are appropriate for one’s condition? And what do we do after we have the test results on our hands? Can our physician help us?

Image: Newscom

This March, the Genomic Medicine Institute was launched at El Camino Hospital in Monterey, California in response to the emerging opportunities and challenges that the genomic era has introduced. El Camino partnered with DNA Direct to become the first community hospital to integrate genomic medical services into its routine healthcare and provide El Camino physicians and their patients with access to leading edge genomic-based technologies.

I had the pleasure of talking with ECH Vice President and GMI sponsor Jon Friedenberg about this partnership with DNA Direct. In gist, GMI will provide El Camino physicians with the clinical support that they need to make decisions about which of these technologies to incorporate into their practice and which not to. Just as importantly, the institute will provide, their patients, through DNA Direct, with access to state-of-the-art genetic counseling so that they can make informed decisions.

Grace: DNA Direct is not a genetic testing company. Where will patients have their tests done?

Jon Friedenberg: Neither the Genomic Medicine Institute nor DNA Direct are going to provide the testing. That’s done by a third party. What we’re doing is providing clinical support tools for physicians and patients so that they can decide which of these genomic-based tests and therapies are the most appropriate for them. We also give them information on where and how to access the tests. For example, for patients, we provide pre and posttest counseling. As I say, if they would like information, or need information, okay, gee I’ve decided to have this test, how do I do that, where do I go, we would provide them with all of that support that they need so that they can access those tests as they wish. We work with both the physician and the patient to help them interpret the results and formulate a course of action to follow based on all the information, including the results from the test.

Read the complete interview after the cut.

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  After describing himself as an “unemployed geneticist”, Francis Collins now reveals that he has been “working night and day” with the White House transition for health and human services with Tom Daschle.  Now that that’s over, he is ready to discuss the progress that personalized medicine needs for it to move forward in a responsible way.

Francis Collins, the public face of the human genome research and former director of the National Human Genome Research Institute, spoke to biomedical researchers, biotech execs and policy people at a meeting in Washington DC organized by the Personalized Medicine Coalition.

"If we’re serious about preventive medicine, and using personalized genomics to inform that, we’re not going to change the genome," he said. "It’s the environment we’re going to want to change."

And I wholeheartedly agree! Whether we know about our specific risks to certain diseases (which is the useful information out of personalized medicine) or we are unaware of such risks, nothing beats having a healthier lifestyle at preventing unwanted health problems.

Collins also addressed the lack of oversight surrounding direct-to-consumer genetic testing services. He suggests the creation of a public database where consumers can find out about these tests objectively – how useful the tests are, how valid their results, and how responsible are the companies that provide for them.

Francis Collins also commented on the much talked-about drugs Abacavir and Wafarin. Read the rest of the story here - Francis Collins Addresses State of Personalized Medicine.

Image: Newscom

I hear so much about genetic testing these days that I’ve always wanted to find out what that experience is like for people who had the test done. Sure, it’s painless (just a saliva or cheek scrape will do). But more than the test itself, I want to know what your life is like these days.

What was it like to know you are at risk for this X disease? What did you do with your results? Are you now eating, living better? Do you feel trapped, empowered, confused?

I do want to know. Maybe I’m the coward who can’t face the mortality of my future. I don’t know that if I knew, I would do something about it, or I would be scared stiff to change. (What’s the point, right?) So hearing from other people who are more adventurous than me would probably help.

It turns out, I’m not the only one who wants to know. People I talk to have the same questions about those who’ve had the test. And now, so does the big wig Case Western Reserve University.

If you’ve ever had one of the tests done with 23andMe, deCODEme,  Navigenics, or Knome, the university wants to interview you.

Read more about it at - Saliva divination: was it good for you?

To learn more about participating in this study, contact Marcie Lambrix via at 216-368-8753 or via email at mal31@case.edu

Image: Newscom

Red hair is among the rarest of hair colors, with only 1% of the population having that natural hair.

I personally think red hair makes heads turn. Check out these natural red-heads: Julianne Moore, Lindsay Lohan, Sarah Ferguson, Marcia Cross and of course, Prince Harry (and great grannie Queen Elizabeth I).

Auburn, ginger, bright orange, carrot-top:  they are all the same red hair, and most would be sharing the same gene.

Some variants of the melanocortin 1 receptor (MC1R) gene are strongly associated with red hair. The gene codes for a receptor that is expressed on pigment cells in the skin (melanocytes). This receptor responds to a hormone that stimutats the production of the dark pigment eumelanin. So, if you have a variant of the MC1R gene that turns off the receptor, the pigment eumelanin will not be made and you will have red hair and fair skin.

What do you get if you have red hair? Aside from stunning looks -

1. fair skin
2. poor ability to tan (major risk for skin cancer !! )
3. more freckles
4. probably Celtic (Irish/ Scottish) ancestors
5. (updated) sensitivity to pain

So now, a company called MyRedHairGene.com (Alpha Biolaboratory, Inc) has a genetic test that will show you if you carry that red hair gene, or if you will pass that gene on to your kids. One test for the red hair gene costs $119; two samples cost $214.

Read Dr. Lei’s interview to find out the science behind the test - Eye on DNA Interview: Dr. Tzung-Fu Hsieh of RedTracer DNA Test for the Red Hair Gene, MC1R

Image:Newscom

  Genetic tests for common medical conditions and disorders have become more in demand in the past years. The popularity increased even more when celebrities and universities began publishing their genetic information online, and direct-to-consumer genetic companies sprouted like mushrooms. Soon, genetic tests could become a common diagnostic tool at the doctor’s office.

Getting access to our risk information is relevant to making informed decisions about our lifestyle. The hope is that if a person will understand his risk, say, for certain cardiovascular diseases, then he will take better care of himself to avoid getting the disease.

And that’s where the shortcomings lie. Sue Friedman, executive director of the patient advocacy group Facing Our Risk of Cancer Empowered (FORCE) says patients don’t always get the correct interpretation, or access to experts and  genetic counselors who can provide them all the information they need.

“Physicians are being told [by genetic testing companies] they should be doing genetic testing in their office and being given access to genetic test kits without any real guidance about what information should be provided up front, how to do a full genetic counseling session, and what the limitations are of the genetic tests being promoted.

Friedman cites an example of a rare syndrome similar to breast and thyroid cancer that the BRCA tests will not find.

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Did you know that Angelina Jolie is a distant cousin of Camilla the Duchess, Madonna, Shania Twain AND Hilary Clinton?

Man has an innate itch to find out where he came from, be it by evolution or ancestry. In a way it helps us connect with people from our past and gives us roots. So it’s no surprise that DNA testing for ancestry or population of origin has mushroomed in the past few years with the growth of direct-to-consumer companies.

Now, the American Society of Human Genetics is concerned about the implications of carrying out such tests without guidelines and oversight. The society presented a recommendation paper to the academe, and to the 30 companies involved in ancestral genetics testing.

Image credit: Newscom

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