Talk

At DNA Direct, our genetic counselors receive many questions about developmental delay — is it genetic, is it inherited, is it my fault? Our senior genetic counselor, Lisa Kessler, also moderates a medical genetics forum on MedHelp. Recently, she had advice for one frustrated mother seeking diagnosis for developmental delay. Lisa’s comments may resonate with many families:

Question: My 20 month old is on her third round of genetic testing. She has Global developmental delay, plus hypotonia. If these come back negative should I keep pursuing a diagnosis or throw in the towel?

Lisa’s Answer: Searching for a cause of developmental delay can be difficult and does not always provide parents with the answers that they are seeking. Only you can answer the question about when to take a break, stop, or keep going. (more…)

On Sunday, the NY Times ran an amazing interview/profile of a young woman who, at age 23, decided to be tested for Huntington’s disease: “Facing Life with a Fatal Gene.” By sharing her personal story and much more in such a large forum, Ms. Moser (the young woman) and the journalist, Amy Harmon, have brought awareness and education for HD into the public eye.

Technorati Tags: huntington’s disease, hd, genetic disease, genetic testing, pros and cons

To celebrate DVT Awareness Month, I asked the fabulous Elizabeth Varga for an interview. Liz has factor V Leiden, an inherited blood clotting disorder, and she has worked tirelessly to raise awareness about blood clots and thrombophilias, educating both patients and medical professionals. Liz is also a board-certified genetic counselor at Columbus Children’s Research Institute, where she also develops health promotion programs for the blood clotting disorders community.

Here is the first part of our interview. Stay tuned for more!

1. Can we talk about your personal life first? How did you learn you had factor V Leiden? How did it impact your personal and professional life?

Sure, I am always happy to share my story. My factor V Leiden story actually started with my mom. In 1999, she was traveling and hiking when her leg became painful and red. When she felt her leg, it felt like there was a large rope running down the inside of her thigh. She soon learned she had “superficial thrombophlebitis”; basically a blood clot running through the outer veins in her leg. She didn’t have to have any treatment for this, besides resting and taking pain killers. But when her doctor interviewed her, he learned that her father had had several similar episodes. It was then that he recommended testing for several clotting disorders. A couple weeks later, she learned she was heterozygous (had 1 copy) of the factor V Leiden mutation.

At the time, I was in college, so I didn’t know much about the incident. However, on a visit back home, I met with my family doctor for a checkup and she started to talk to me about the gene found in my mom. She told me that she had a colleague also had factor V Leiden. This woman had had a stroke at the age of 40; it was later learned that her colleague had a hole in her heart (called a patent foramen ovale or PFO) and that a small clot had developed in her leg veins that traveled to her brain.

My doctor also told me about birth control pills and how they could interact with factor V Leiden. She said she would recommend that I discontinue taking the pill if I tested positive. So, I decided to take the genetic test and go from there. (more…)

Happy new year, everyone! I just returned from an unusually exciting break (more on that in later posts) to find that genetic testing is the cover story of this week’s US News & World Reports:

Unraveling Your DNA’s Secrets: Do-it-yourself genetic tests promise to reveal your risk of coming down with a disease. But do they really deliver?

Also, you can now listen to public radio’s December 21 Health Dialogues’ program online:

Genes, Disease and Difference

The program begins with the story of a woman who pursued genetic testing for tamoxifen efficacy, but the panel discussion is wide-ranging, with perspectives from all over the industry.

Technorati Tags: news, dna, genetic testing, disease risk, tamoxifen, media coverage

Are you generally curious about genetic testing? I highly recommend reading “Peering Into the Future“, which ran in the latest issue of Newsweek.

Genetic testing is transforming medicine—and the way families think about their health. As science unlocks the intricate secrets of DNA, we face difficult choices and new challenges.

You name it, this article covers it: the $1000 genome, pre-implantation genetic diagnosis to prevent passing on serious genetic diseases to children, Huntington’s disease, the development of early-onset Alzheimer’s gene testing (could be as early as 5 years down the road, says the expert quoted), buyer beware warnings about internet companies that sell dubious genetic tests and product “solutions” such as vitamins — and more. The families interviewed put a very personal lens on issues that too often fall prey to high-minded discussion.

Personally, it makes me happy to see a thoughtful, even-handed discussion about the current (and near-future) state of genetic testing that isn’t sensationalistic, scare-mongering, or science fiction.

Technorati Tags: genetic testing, 00 genome, pgd, huntington’s disease, alzheimer’s disease, nutrigenomics

If you or someone you love is considering genetic testing for breast cancer, you must read Aliyah Baruchin’s article, “In Breast Cancer, There Is a Single Agenda: Stay Alive” from last week’s NY Times. She eloquently writes about her experience, illustrating the complexity women face when considering the BRCA test.

“I was petulant about BRCA testing from the moment it was first mentioned to me,” she begins.

After I had a mastectomy, though, the idea of more surgery became unmanageable. Losing a breast was extraordinarily difficult. The body wants its own coherence; it objects, in the most strenuous terms possible, to any structural loss. No more parts for sale to the lowest bidder, was all I could think afterward. Everything else I have, I want to keep.

But here’s the important thing, the thing I learned that changed me for good: in practical terms it was all bluster. I was 43, a working journalist, with a 3-year-old daughter and a remarkable husband. Of course I was going to be tested.

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There an increasing number of conditions for which certain a gene variant (or multiple variants) increase your risk for developing disease. These variants doesn’t guarantee that you will get the disease, and not having it doesn’t guarantee that you won’t. But they tell you about your risk.

Denise Grady of the NY Times discusses the findings of a gene variant involved in Type 2 diabetes, and the test that might be available as early as 2007 or 2008.

Dr. Kari Stefansson, Decode’s chief executive, said genetic tests that measure the probability of developing a disease “are a new sort of information that our society is growing rapidly more accustomed to, but it is still not absolutely clear how we are going to use it.”

The first use of a Type 2 diabetes test, he said, would probably be in people with impaired glucose tolerance. Those who came out positive could be treated aggressively, perhaps with drugs. Those who tested negative could be offered a more conservative approach.

For people with a family history and normal glucose tolerance, Dr. Stefansson said, the best use of the test would be to test both the relative with diabetes and the concerned family member. If both tested positive, then the family member was at high risk and could try to do something about it.

What would Grady herself do?

Right now, I’m leaning toward having the test if it becomes available. I’m not sure what I’d do with the results or whether they would mean anything for my future. But I’d like the information, and the right to decide for myself whether to act on it.

(DeCode Genetics is the Icelandic company that discovered these gene variants.)

Technorati Tags: diabetes, genes, risk, treatment, family history, type 2 diabetes, denise grady, decode genetics

There continues to be much debate in the genetics community about whether genetic discrimination exists. This week’s Grand Rounds spotlights a beautiful piece by Dr. Charles about a patient faced with a serious genetic risk for HNPCC (hereditary nonpolyposis colorectal cancer) and how he responded to her fears of discrimination. He writes,

“There are three things holding back discrimination. The first is the structure of American health care financing system in which only a minority of people are exposed to individual policy underwriting. Most Americans get their health insurance non-selectively through their employers, Medicare, or Medicaid. The second is a web of state laws that explicitly prohibit genetic discrimination in at least 30 states, and implicitly protect in all but three. Federal laws such as the Americans with Disabilities Act and the Employee Retirement Income Security Act have deterred employers and insurers from discriminating, although they have never been formally tested in the court system. The third is that most diseases result from multiple causative factors, chance, or do not stem from simple, easily identified genes with predictable inheritance.”

Whether or not genetic discrimination exists, many of us are concerned that the fear of discrimination is keeping people who could benefit from genetic testing away from testing. Dr. Charles’ patient is a perfect example: the increased surveillance her test results have warranted may mean the difference between a curable or terminal diagnosis.

Read more:

• Why genetic discrimination is not common, and thoughts from Genetics and Health
• Our long discussion of why genetic information is unique
• Human Genome Project: genetics privacy and legislation

Technorati Tags: genetic discrimination, genetic testing, HNPCC, hereditary nonpolyposis colorectal cancer, privacy, legislation, human genome project

Would you bank your family’s DNA? Why or why not? Post a comment and let us know!

Here’s why we’re talking about DNA banking: Last week, the Wall Street Journal ran an in-depth article on the recent push to study families with inherited cancers. Says the WSJ:

“One reason families with inherited cancers are so valuable to research is that they make it much easier to home in on the problematic genes. To find culprit genes in a vast population of patients with varying genetic makeups can be almost impossible. When the people getting the disease are all related, it is often easier for researchers to detect relevant genetic patterns.”

Or, as the head of a familial-colon-cancer study puts it, “In families, there are more needles and less haystack to search for the cause of the cancer.”

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

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.

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