Genetic Testing

Coping with everyday challenges

Every day, each one of us copes with numerous and generally unexpected challenges. Currently, I am trying to live in two different states in homes 750 miles apart. This has made my usual forgetfulness and disorganization more of a handicap than usual. I suspect much of this tendency is in my genes. So, I can't change that, can I?

The companies who sell genetic testing services online use our fears and inclinations to get us to buy something. We might think we are buying security--we'll know what's wrong with our genes so we can . . . Well, what can we do?

I'm not saying that being told we have a BRCA gene mutation is like the challenges I am running into today, but the way I am dealing with these might help others deal with problems that serious. O.K., here are some of the challenges I have dealt with today:

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Can a genetic test predict your chances of heart disease?

Internet news stories are boring for a while and then two interesting things can come along the same day. Today, just as I finished completing a survey on nutrigenomic genetic testing--the testing that claims to tell you how to change what you eat and how you treat your body, based on your genetic makeup--I found a slew of stories stating that there is no genetic link for heart disease risk.

The stories are in many places, but most of them read the same, starting as follows:

 No genetic link found for heart risk, study says

Tests failed to find mutations that would predict cardiovascular disease

Updated: 12:13 p.m. PT April 11, 2007
CHICAGO - Genetic testing failed to find any gene mutations that predict a higher risk of heart disease, a study released on Tuesday said.

Scientists at Yale University worked up the genetic profiles of nearly 1,500 people to examine 85 genes that smaller, earlier studies suggested might confer susceptibility to heart problems.

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Facing Life with a Letal Gene

The test, the counselor said, had come back positive. Katharine Moser inhaled sharply. She thought she was as ready as anyone could be to face her genetic destiny. She had attended a genetic counseling session and visited a psychiatrist, as required by the clinic. She had undergone the recommended neurological exam. And yet, she realized in that moment, she had never expected to hear those words. "What do I do now?" Ms. Moser asked. "What do you want to do?" the counselor replied. "Cry," she said quietly. The rest of this poignant story is part of a recent

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What's a family history consultation like?

Last month, the winner of a family history contest in Utah, received his prize: a personal consultation with a family history specialist and genealogist. The story, reported by the company providing the service, is copied below, with permission of the authors, Jim and Mary Petty:

Through the Utah Department of Health’s Chronic Disease Genomics Program, Utahns are encouraged “to know your past to benefit your future”. In the words of the Washington Post (February 26, 2002): “The Family Tree has become the most important genetic test of all. The more you know, the more tools you have to practice preventive medicine.” The Genomics program has promoted the goal “Make Family Health History a Tradition” through a variety of initiatives, publications, and even a contest.

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Cancer genes---more common than we thought

Sixty-six authors and 14 international institutions were involved in the work reported in the March 8th edition of Nature (volume 446, pages 153-158) under the title, "Patterns of Somatic mutation in human cancer genomes." The group found:

...evidence for 'driver' mutations [approximately 120 genes] contributing to the development of the cancers. . . Systematic sequencing of cancer genomes therefore reveals the evolutionary diversity of cancers and implicates a larger repertoire of cancer genes than previously anticipated.

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Heads they win; tails you lose--genetic testing and insurance

While the U.S. legislature debates whether discrimination is occurring in insurability of its citizens, many Canadians are paying higher premiums for critical care insurance even when genetic tests are negative. This report comes from cbc news.

Canada has public health care for ordinary illnesses, with more limited protection for debilitating conditions such as cancer. People can buy additional insurance to cover these potential problems, and insurance in this category is a fast-selling product. It covers such things as strokes, heart attacks and some types of cancer or diabetes.

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New multi-gene test for predicting breast cancer probability

The United Press International posted a news article today stating that a U.S. biotech firm has launched "the first genetic-based, breast-cancer-risk test to the global market.

According to the news release,

The test, to be sold as OncoVue, uses a patient's personal history and gene-based information to determine future breast-cancer risk.

"OncoVue has undergone over seven years of research, and the genetic information for this test came from the testing of over 8,000 women with and without breast cancer from five geographic regions of the United States, giving us the support to introduce the test to an international market." said Craig Shimasaki, InterGenetics' chief executive officer and president.

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Personalized medicine is possible, but is it likely?

I found an interesting article in the Feb. 27th issue of the Arizona Republic that suggests that genetic testing used for adpating treatment to an individual person is still a ways off and--perhaps--may only be another way of separating those with money from those without. The author, Ken Alltucker, starts as follows:

Genes can be powerful predictors of a person's future health problems, but testing a patient's genes to tailor treatment strategies remains at the cutting edge of health care and legal professions.

The promise behind personalized medicine is that genetic tests can be used to craft ways to detect, treat or delay disease. Yet using genetic tests to tailor health care strategies is rarely done. These tests are too expensive for the typical patient, and many doctors aren't trained properly to administer, assess or use the tests for patient care.

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Genetic testing sheds light on degenerative eye disesase

Now, here's a genetic test I would be very interested in and would be willing to pay for. My mother and her sister both have lost much of their eyesight to macular degeneration. I thought there was just "wet" and "dry" macular degneration and, frankly, have been avoiding the issue because I greatly fear blindness.

I learned today in an article in Science Daily ( that at least four genes identified for varieties of macular degeneration and genetic tests already exist. Also, treatments are being approved now that might be helpful to me. I already have my eye exams yearly, including a retinal examination. And I know that treatments are being tested and approved. Now, it may be time for me to decide whether to have genetic testing and, if so, where to have it done.

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The art of crafting headlines

Today's Google alert for genetics provides over 30 headlines from online services and newspapers around the world trying to get people to read an article about Kaiser--the big insurance company--and its plans to build a monster DNA database from genetic material donated by 2 million people in Northern California.

As often happens, the headlines vary from the plain facts to the extraordinary promises we often see in the field of genetics:

"Kaiser launches genetics study" is the simple title in, the Washington Post, Business Week, Houston Chronicle and others.

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