Did You Know?

Approximately 95% of the human genome is referred to as “junk DNA” or“non-coding DNA” because it does not directly code for protein molecules as other DNA does. Some believe that non-coding DNA is just an evolutionary artifact and serves no purpose.

Others believe that the function is just not yet understood. Recent research has revealed that noncoding DNA may play an important role in regulating coding DNA, essentially serving as genetic switches that turn genes on or off. By comparing human non-coding DNA segments to other species, Yale researchers located DNA that may be the trigger for the evolution of advanced manual dexterity in humans.

DNA in the News

An Oklahoma man recently made the news because he is still required to pay child support even though genetic testing proved that he was not the father of the child. In Oklahoma, paternity can no longer be contested after the child turns two years old, and the child in question was already five.

Laws vary by state. Georgia passed a law in 2002 allowing men to end child support payments if DNA testing proved they were not the father. Since then, courts there have not only allowed men to end their child support responsibilities, but also required women to repay child support they have received.

Watson, co-discoverer of the DNA helix, has recent African roots

James Watson, famous DNA pioneer, was found, in a genetic test, to share approximately 16% of his genes with his African ancestors. A percentage this high is typically seen only in people with an African greatgrandparent.


The news is of particular interest because Watson drew widespread condemnation in late 2007 after making racist comments about the inferior intelligence of Africans. Specifically statingthat he was "inherently gloomy about the prospect of Africa" because "all our social policies are based on the fact that their intelligence is the same as ours – whereas all the testing says not really." The backlash created from Watson’s comments resulted in his resignation as chancellor of Cold Spring Harbor Laboratory in New York state after 39 years.

Mr. Watson is not alone in getting surprising results from an ethnicity test. Many people have ancestry that they are not aware of.


Hopefully, these test results will serve as a reminder to Watson and others that all humans came out of Africa originally, and despite perceived differences, we are far more alike than different. Ethnicity DNA testing, in addition to being a fun way to learn more about your ancestry, may also serve to increase understanding of just how interconnected we are as a human race. As testing becomes more common, people will hopefully begin to abandon the false notion that there are extreme genetic differences between people of different races.

The fact is that the genetic difference between two individuals of the same race can be greater than those between individuals of different races.

DNA Detective Work : Discretely Resolve Relationship Questions

Thanks to CSI, many people are aware that DNA can be extracted from many samples other than swabs or blood. DNA testing clients use this technology to resolve questions of parentage when discretion is required. DNA is the same in any cell in the body that has a nucleus. So as long as a submitted sample has several intact cells, DNA testing can be performed.

Samples that DNA can be extracted from include:


· Dental floss or toothbrush
· Licked stamps or envelopes
· Hair with roots
· Cigarette butts
· Unwashed undergarments
· Cup or bottle
· Chewed gum
· Teeth
· Ear swab
· Used tissue

Genelex is a market leader in this testing and our success rate is very high. In delicate situations, DNA detective work can discretely resolve relationship questions and provide peace of mind.
To find out more, visit www.healthanddna.com

Celiac Disease Underdiagnosed

Approximately 90% of Celiac Disease cases go Undetected even though it affects 1 in 100 Americans.

Celiac Disease, also known as gluten intolerance, is a disorder affecting 1 in 100 Americans. A toxic reaction to gluten (found in barley, wheat, and rye) damages the surface of the small
intestine and interferes with the absorption of nutrients. Due to the exceptionally wide range of difficult to interpret symptoms, 90% of Celiac Disease sufferers are not diagnosed.

Early diagnosis and lifelong treatment with a gluten-free diet is critical for both symptom relief and reducing the risk of developing long-term conditions such as diabetes or GI cancer.

According to a recent NIH study, a typical patient currently endures 11 years of symptoms before an accurate diagnosis is found. Since the traditional approach requires blood tests, small intestine biopsies and six months on a gluten-free diet before confirmed diagnosis, many prefer
Celiac Disease DNA Testing.

Celiac Disease DNA testing is not used to diagnose celiac disease, but can quickly, accurately, and painlessly exclude the diagnosis as you must have certain genetic markers in order to develop Celiac disease. A negative results means that you are not at risk of developing Celiac
disease. A positive result in addition to clinical symptoms indicates the need for referral to a gastroenterologist.

If you are concerned that you may have Celiac Disease, visit HealthandDNA.com for more information or call 800-837-8362 to order your Celiac Disease DNA test.

Breast Cancer Symposium

Mayo study further confirms the importance of CYP2D6 for tamoxifen effectiveness building the case for genotyping and medication management

Mayo gave a presentation on December 11th at the 31st annual San Antonio Breast Cancer Symposium that further confirms the importance of the liver enzyme CYP2D6 in tamoxifen effectiveness. Tamoxifen is often prescribed to block the effects of estrogen in breast tissue to prevent breast cancer recurrence in ER+ (estrogen receptor positive) cancers which require estrogen to grow and spread. Previous studies have already revealed that tamoxifen is less effective in women with reduced CYP2D6 activity caused by genetic variations or co-administration with medications that inhibit CYP2D6, but the mechanism of action for tamoxifen was not well understood.

Tamoxifen is a pro-drug that is metabolized and converted into the metabolites endoxifen and 4HT; both previously believed to play a key role in suppressing estrogen. However, Mayo’s study shows that endoxifen degrades estrogen receptors in breast cancer cells and is the key metabolite involved in the effectiveness of tamoxifen. Since CYP2D6 is the enzyme that converts tamoxifen to endoxifen; this study further indicates that widespread genotyping and medication management can improve outcomes for many of the 35% of ER positive breast cancer patients who currently fail tamoxifen treatment.

On October 18, 2006, an FDA Advisory Subcommittee was convened to review the tamoxifen research findings to date and to make a recommendation regarding a label change. The consensus of the Subcommittee was that the label should be updated to reflect the fact that postmenopausal women with ER-positive breast cancer who are CYP2D6 poor metabolizers treated with tamoxifen (by genotype or drug interaction) are at increased risk for breast cancer recurrence. This label change has still not been made, and now the case is even stronger.
So, what can be done with this information to reduce the risk of breast cancer recurrence?
First, genotyping should be considered for every ER-positive breast cancer patient taking tamoxifen. Insurance typically covers testing, and alternative therapies exist for treatment for the 10% of patients who are CYP2D6 poor metabolizers.

Second, medication management involving the careful monitoring of tamoxifen co-administration with other medications, herbals, and over-the-counters needs to happen. For example, “hot flashes,” a common side effect of tamoxifen, are typically treated with selective serotonin reuptake inhibitors, and fluoxetine, paroxetine and high doses of sertraline are notoriously potent CYP2D6 inhibitors. Additionally, 35% of patients are CYP2D6 intermediate metabolizers and are at risk with less potent inhibitors of CYP2D6 such as the commonly used herbal goldenseal as shown in the interaction report below.

Genelex includes access to GeneMedRx drug and gene interaction software with each tamoxifen CYP2D6 test so healthcare providers and patients can quickly see if co-administration is going to reduce CYP2D6 activity.

Mayo’s study has confirmed the critical role of CYP2D6 in tamoxifen treatment. It is time to start putting this research to use in the clinic.

DID YOU KNOW?

The genetic code in your DNA breaks down into just four basic building blocks or nucleotides represented by letters: A/adenine, T/thymine, G/guanine, C/cytosine

More than 99% of human DNA sequences are the same across human populations. The main differences occur when a single nucleotide (A,T,C,or G) in the genome sequence is altered.
These single letter changes are called single nucleotide polymorphisms or SNPs (pronounced "snips"). For example a SNP might change the DNA sequence from AAGGCTAA to ATGGCTAA.
SNP’s represent about 90% of human genetic.