Talk

Recently, Ryan Phelan (DNA Direct’s founder and CEO) talked with Dr. Moira Gunn on NPR’s TechNation about home-kit genetic testing, the question of genetic discrimination, the importance of genetic counseling…and much more.

Listen to their conversation on BioTech Nation

If you’ve got questions for Ryan, join in the discussion and ask them here.

Technorati Tags: genes, genetic testing, genetic discrimination, discrimination, counseling, DNA

When newspapers announce that a gene has been discovered for a certain disease — such as the recent findings of genes involved in chronic fatigue syndrome, schizophrenia, and obesity — we inevitably get calls from people interested in testing for that genetic finding. But “finding a gene” can mean a few different things.

Finding the gene: Sometimes, researchers identify a gene that definitely causes a disease, such as the discovery of the gene for hemophilia or cystic fibrosis. Such a finding does not necessarily mean that a genetic test is immediately available or that researchers can cure the disease. However, it does mean that the medical community may be closer to a possible cure. Knowing the genetic origin of a disease can aid in diagnosis.

Finding one of many genes: In other cases, researchers discover a gene that plays a role in a small subset of people who get a common disease, such as the genes BRCA1 and BRCA2, which cause breast and ovarian cancer in some people. Again, finding these genes puts researchers one step closer to a cure or genetic test that can help certain people with the disease.

Finding a gene in animals: One way to understand gene function in humans is to find and manipulate a gene that causes an animal — such as the mouse or fruit fly — to show symptoms similar to a human disease. Animals have genes that are very similar to our own, so these discoveries help point researchers to the biological function of a human disease gene. However, it is a long path from finding a gene in flies or mice to finding a genetic treatment for a human disease.

Technorati Tags: genes, genetics, genetic testing, DNA

In an article entitled “Missing Links” (WSJ), Donald Moffitt explores how DNA testing has become the new trend in genealogy. He writes:

“DNA Testing has the hottest tool in geneaology, allowing amateur slueths like myself to graft and prune their family trees. The process is simple, involving little more than a swab of the inside of your cheek. Advances in lab technology, meanwhile, have brought the costs down to home-appliance levels. And for your efforts, you can learn, among other things, some of the ancient ethnic and geographic origins of your ancestry. But beware: DNA can open doors you can’t close.”

Moffitt relates his own interesting story. Testing in his family uncovered a new branch on the family tree and a mysterious stranger by the name of Rutherford, who could “almost be a genetic brother.”

“The tests first showed that all of us shared a straight paternal-line ancestor, perhaps with 100 million or more males in Wester Europe and the Americas. The patriarch seems to have fathered a Stone Age clan in northern Spain that survived, grew and drifted northward as the glaciers of the Ice Age began to melt…. But our tests also showed that the four of us shared an extrememly rare mutation along the Y chromosome, a DNA pattern that appears in only a few hundredths of 1% of the R1b population. That match…was a virtual guarantee of close kinship.”

DNA insights in hand, Moffitt’s historical research takes him back to colonial Virginia, where he eventually finds…drumroll…a Moffitt and a Rutherford who are neighbors. The rest? Well, that must be left to conjecture.

You can see the map of my haplogroup (R1b M343) at the Personal Genome

Technorati Tags: genes, ancestry, genetic testing, geneaology, haplogroup, R1b, M343

Yesterday the Centers for Disease Control and Prevention announced that researchers have identified clusters of genes that appear to be involved in the development of Chronic Fatigue Syndrome. The findings, from the largest and most comprehensive clinical study to date, could lead to a better understanding of CFS.

Specifically, these findings may help with diagnosis, help with the development of treatment drugs, help understand who is at risk for CFS, and help identify preventive measures.

This research underscores both the promise of genomic research and the complexity of it. Genes are rarely a black-and-white issue, and genes rarely work alone. Identifying genes is just the beginning. Understanding how they are expressed, and the factors that affect their expression, is the next step.

Dr. Suzanne Vernon of the CDC has been quoted in the recent flurry of news coverage. She mentions a prior study that distinguished different gene activity patterns between healthy people and people with CFS, and explains: “What we have shown now is that in addition to the differences in gene activity that we know occur, there are actual differences in the genetic makeup — the DNA code — that probably results in the differences in the gene activity and also results in the manifestations of the illness itself.”

Listen to a great investigative report on NPR’s “Morning Edition”

Read news coverage, each has details about the research:
Washington Post
Los Angeles Times
New York Times
Sydney Morning Herald

Technorati Tags: genes, DNA, chronic fatigue syndrome, health, disease, genes and environment

There’s a dramatic piece in the Washington Post today about how genetic testing can predict whether a person will process certain medications, or experience side effects. The Mayo Clinic has been using these tests, particularly with children and people with family histories of bad side effects. But this testing hasn’t hit mainstream usage…yet.

These genetic tests identify how you process certain liver enzymes.

“The most important liver enzymes in drug metabolism are the ones in the ‘cytochrome P450′ (CYP) family. They process 25 percent of all drugs, including those that cause the most adverse reactions — antidepressants, anti-psychotics, painkillers, beta blockers (which slow the heart rate and lower blood pressure) and drugs used to treat attention-deficit hyperactivity disorder (ADHD).

Say you take a drug that is mostly processed by the enzyme CYP 2D6. If your liver produces too much of this enzyme, it could over-process the drug and flush it right out of your body, and you’d get no therapeutic effect. If, on the other hand, your liver produces too little of the 2D6 enzyme or none at all, the drug wouldn’t be sufficiently broken down. Instead, it would build up in your bloodstream. You could overdose on what, for most people, would be a normal dose.”

Had these tests been available a few years ago, my mother could have been spared years of pain, illness and liver damage that resulted from trial-and-error drug regimens. Thankfully, we got her into the Mayo Clinic where she received the diagnoses that had eluded everyone else.

Like many, I believe this testing will become as commonplace as blood typing. It can lead to faster, more effective, more appropriate pharmaceutical treatment - which means better quality of life for people, and cheaper cost of care for insurers.

List of drugs processed by CYP enzymes
How drugs can interact with each other

Technorati Tags: drugs, medications, genes, genetic testing, p450, antidepressants, painkillers, beta blockers, ADHD

People are often asking our company if they can buy a test that will “scan my genes for everything.” No, not yet, but perhaps soon. Today’s Wall Street Journal has a cover story on technology that is leapfrogging genetic research and genetic testing.

Microarrays are small microchips coded to detect DNA sequences from a blood sample. They can scan 100,000s of gene variations at once – enabling researchers to conduct research that is significantly more comprehensive, faster, and cheaper than previous lab processes for genetic testing.

But let’s not just talk about what science can do. Let’s think about what it means. The WSJ describes microarrays as allowing us “to search for genetic roots of some of humanity’s most common traits.” Indeed, many conditions, such as diabetes, are believed to involve not one but many genes. Research is underway for genetic underpinnings of obesity, autism, depression, Alzheimers, and many other conditions. Learning more about genes also tells us more about environmental and other factors. As a result, gene findings can help us develop better screening, preventive measures, and treatments.

Technorati Tags: DNA testing, genes, genetics, disease, diabetes, autism, depression, alzheimers, obesity, microarrays

The advent and increasing popularity of ancestry testing raises complicated issues about how we conceive of ethnicity, and what it means to claim it — Is ethnicity genetic? Is it cultural? Is it how you see yourself, or how the world sees you?

Today’s New York Times (“Seeking Ancestry in DNA Ties Uncovered by Tests”) discusses how people are using, and wrestling with, the increasing popularity of this testing. (Disclosure: our company, DNA Direct, does not do ancestry testing. We stick to tests with health/medical applications).

Like the expression of genes themselves, our understanding of “race” and “ethnicity” is dynamic: It will continue to evolve, it will be complex, it will be individual, and it will be influenced by many environmental, personal, and genetic forces.

Technorati Tags: ancestry, DNA testing, genes, genetics, ethnicity

The NIH is looking for sisters of women who’ve had breast cancer. Why? For one of the first long-term studies to look at how genes and environmental factors — homes, workplaces, and communities — affect women’s risk of breast cancer.

The Sister Study is exciting for a number of reasons:

• They’re enrolling 50,000 women. Such a large study will give more powerful results.

• They’re studying women from various racial and ethnic groups. Women of color have historically been underrepresented in research and have different risk issues. For example, African American women have higher rates of death from breast cancer.

• They’re studying women from different generations. By gathering information about jobs, geography and medical history, they can uncover about environmental factors and breast cancer risk over time.

If, like me, you Race for the Cure in honor of the women in your family – consider giving a bit more: give yourself. Participating by donating and advocacy is important, but partipating in scientific research is another. The progress of science depends on people participating in scientific research. So often, the people being asked to participate are patients or survivors. This is a great opportunity for us, the supporters, to give something truly valuable that can improve the lives of the generations to come. Thanks to Dr. Hsien Hsien Lei for drawing attention to the Sister Study and the importance of participation.

Read Sister Stories from study participants
See if you are eligible to enroll in the study

Technorati Tags: breast cancer, BRCA testing, DNA testing, genes, genetics, sisters, clinical trials

Tina in Arizona asked us by email:

“What does the latest news on genetic testing for breast cancer mean for me and my daughter? Two years ago, I had the test for breast cancer — the results were negative. Does this new research mean that my test was not accurate? Is there a chance I could still have a mutation?” I am a breast cancer survivor (diagnosed at age 48), and there’s breast cancer in my dad’s family.”

The simple answer, Tina, is that this new information does not make your test any less accurate. Your test, called full sequence BRCA testing, looked for genetic changes in two tumor suppressor genes (called BRCA1 and BRCA2) that are currently known to be associated with hereditary breast and ovarian cancer.

(more…)

April 25 is National DNA Day. A day to celebrate the completion of the Human Genome Project — and the discovery of DNA just 53 years ago.

National DNA Day is a good excuse to learn the latest about the human genome. The DNA Dolan Learning Center has great online materials for all you science teachers and parents looking for new inspirations. The National Human Genome Research Institute also has info for adults and fun stuff for kids — a webcast, live chatroom, and videos. (You’ll need Real Player installed to view run the videos.)

Your genes are like family heirlooms: They get passed on from generation to generation. Everyone’s heard the phrase “it runs in the family,” but not everyone has considered what this actually means.

Learning about your family health history is a lot like putting together your family tree, only you do it through the lens of health and medical stories. Knowing about things that “run in your family” can be valuable knowledge for both you and the generations that come after you.

The CDC has a great, web-based program that helps you build your family health tree, or as genetic counselors call it, your “pedigree.” Check out: My Family Health Portrait

If pen and paper are more your style, the Genetic Alliance and colleagues have a wonderful guide called “Does It Run in the Family” (PDF) with advice and stories for how to gather family health stories, and examples of how to draw your own family tree.

Technorati Tags: family, health, genes, genetics

Welcome to our blog about genetics, health and medicine. Here you can find news and commentary on the latest genetic discoveries. You’ll also find nuts-and-bolts information about things like family risks, carrier screening, common genetic conditions and more.

Read the most recent posts

DNA Direct Talk is written by some of us at DNA Direct, a genetic testing and educational services company. We encourage you to post comments, and we’ll try to answer any questions you have about testing. Come join in the discussion!

Lisa, Elissa and Jason