Genetic Testing

Genetic testing for breast cancer: marketing through fear

I wondered the other day when I saw a commercial advertising genetic testing for "breast cancer genes" whether the company that patented the tests for BRCA1 and BRCA2 and controls this segment of the genetic testing market was starting to have declining sales. They haven't advertised before; why now?

Perhaps their advertising is justified by the fact that, according to an article in the New York Times, "only 30,000 of more than 250,000 American women estimated to carry a mutation in BRCA1 or a related gene, BRCA2, have so far been tested."

| read more | mgodfrey39's blog

So what is genomics, anyway?

My daughter--who's in Public Health now--asked me to define genomics.I told her that genomics was the study of genetic inheritance in populations, with a specific focus on disease conditions thought to have a major genetic component.

"So," says my daughter, "how does that differ from epidemiology? or population genetics?"

I blundered through, as usual, and then looked it up online. Although I started with Wikipedia, I finally chose the definition from the CDC national office of public health genomics as an appropriate one for her question:

| | read more | mgodfrey39's blog

Catching problems before they destroy lives

And here’s the latest news: Oregon wins by a score of 49 to Utah’s 46!! Football? A very defensive basketball game? Certainly not soccer, hockey, or baseball. So, what’s the game?

The game is Life and the scores are based on available newborn screening for life-threatening conditions and diseases. If you happen to live in Washington State, the score would be 14. If your child is affected by one of the genetic conditions not screened for in Washington—or Virginia, where Stephen Monaco was born—there’s a very small, but real, possibility that your child could die or be severely disabled by an undiagnosed genetic condition.

| read more | Genetizen's blog

Project Jim completed

James Watson--of the famous Watson and Crick duo--just had his genome completely mapped. The articles I've read so far don't say whether the map will be available to the public. From what I understood Watson was reluctant to have that happen.

In any case, single-person genome maps are being touted in the media. Should I ask for one as a birthday present? Probably not anyone I know well enough has $1 to 2 million to spare. I expect the hype about $1000 genomes will return to the media.

The approach to the mapping is an interesting one in the Economist: the author talks a bit about genetic testing as a business model:

| | read more | mgodfrey39's blog

Great genetic findings--giving credit

Yesterday, I spent some time viewing a video on the most important advances in genetics. You can see the video by clicking on the link in yesterday's blog. It's fun to watch and very informative.

There were only two things that bothered me: as the film progressed the link between face and sound became less and less accurate. By the time the film ended, Bill Nye was still moving his mouth, but the sound had long since finished. Anyway.

The second item, and the one I commented upon to the website was apparently giving all the genome-mapping kudos to Craig Ventner. The project was so much broader than that! At the very least, the Department of Energy contributions--they're the ones keeping the project going--should have been mentioned. In case you wonder why the Department of Energy (I did), it's because our government has no biological agency, except per haps the National Institutes of Health. So, DOE --and us of course--supplied a big part of the necessary money for mapping the entire genome.

| read more | mgodfrey39's blog

Genetics tests available to healthy young adults

have you ever considered having a gentic test done? How would you get the information you need? How would you deal with the results?

These are some of the questions adults 25 to 40 years old may be asking.

A new initiative from the National Cancer Institute has been launched to "investigate the interest level of healthy, young adults in receiving genetic testing for eight common conditions."

Called the Multiplex Initiative, the study will also look at how people who decide to take the tests will interpret and use the results in making their own health care decisions in the future.

The test being used is designed to yield information about 15 different genes that play roles in type 2 diabetes, coronary heart disease, high blood cholesterol, high blood pressure, osteoporosis, lung cancer, colorectal cancer, and malignant melanoma.

"The Multiplex Initiative will provide insights that will be key to advancing the concept of personalized medicine," said NHGRI Scientific Director Eric Green, M.D., Ph.D. "As genomic technologies are introduced for wider use, researchers and clinicians will need to know how genetic susceptibility tests will be received by patients. This study will be an important first step in understanding how such testing can be practically used in primary care settings."

According to the news release,
Researchers at Henry Ford Health System, a major health provider in metropolitan Detroit, are recruiting individuals between the ages of 25 and 40 to volunteer to participate in the study. The participants are being selected through patient lists from Health Alliance Plan, the largest managed care plan in Michigan, owned by Henry Ford Health System and the Henry Ford Medical Group, the health system's group medical practice of more than 900 physicians and scientists. A total of 1,000 participants who meet the study's eligibility requirements will be offered free multiplex genetic testing. A total of 1,000 participants who meet the study's eligibility requirements will be offered free multiplex genetic testing.

I do not know whether they will accept volunteers not in the Health Alliance Plan or the Henry Ford Medical Group, but it's worth contacting them if you are interested.
Waht about security of your genetic information? It appears that the group understands that young adults are very concerned about this issue.
To protect patient privacy, test results obtained during the Multiplex study will not automatically become a part of participants' medical records. However, participants who want to share their test results with their health care providers may do so.

The actual genetic tests will be conducted at the Center for Inherited Disease Research (CIDR), a world-class genotyping facility that is jointly operated by NIH and The Johns Hopkins University.
Wow, I'm impressed. It's not often a news release knows enough about Hopkins to call by its correct name The Johns Hopkins University. Not only is the "s" on Hopkins, the word "The" is in its proper place. Cheers to my alma mater.
Marie Godfrey, PhD

| | mgodfrey39's blog

New information on the genetics of Type 2 diabetes

Although I've chosen "genetic testing" as the topic for this blog entry, none of the new "genes" reported in the latest news have had genetic tests developed for them yet. So, you cannot run out and get tested for these genes yet.

Today, Associated Press medical writer Lauran Neergaard wrote an article, New diabetes risk factors found, that is hitting all the newspapers and online services. The author writes:

Scientists have found clusters of new gene variants that raise the risk of Type 2 diabetes — and how the researchers did it is as important as what they found.

| read more | mgodfrey39's blog

Help end genetic discrimination

Here's an ACTION ALERT from the Genetic Alliance
Help End Genetic Discrimination!

Ask your representative to vote for Genetic Information Nondiscrimination Act

Today the House of Representatives will consider the Genetic Information Nondiscrimination Act (H.R.493) on the Floor, probably as early as 11 AM! This legislation protects all Americans from discrimination by employers and health insurers based on genetic information.

| | read more | mgodfrey39's blog

When science is personal

Today's Philadelphia Enquirer features news of Nancy Wexler, a woman I've admired ever since I saw her story on public television. She is one of nine people being honored this week by the Franklin Institute for achievement in science in technology.

As you would expect from a writer for the Enquirer, Tom Avril starts the story dramatically:

It might seem hard to convince a roomful of strangers to let you gouge a few skin cells from their arms for genetic testing, especially when you are a foreigner in a poor Venezuelan community ravaged by disease, and you speak very bad Spanish.

| | read more | mgodfrey39's blog

Breast cancer genetic counseling helping women in England

The United Press International reported yesterday: More women are seeking out genetic services to learn about family breast-cancer risk, and a Welch review found many have less stress and worry. "Many people have spent years worrying about cancer in their family," said review co-author Rachel Iredale of the Institute of Medical Genetics at Cardiff University.

A genetic risk assessment enables people to reach a better understanding of hereditary breast cancer, their own personal risk, and means access to additional services, such as extra mammography screening or genetic testing, is often easier. Most people are satisfied with the service they receive.

The press release concludes by citing the source of the information: three studies of 1,251 women who underwent genetic risk assessment for hereditary breast cancer. All of the studies showed that genetic counseling improved patients' psychological well-being and decreased their levels of anxiety and worry about developing cancer, according to the review in The Cochrane Library.

I've been reading about this study in several other sources and will track it down to see what else the study itself can add. More in another blog entry.

Marie Godfrey, PhD

| mgodfrey39's blog