SACGHS and DTC testing

The SACGHS met this month and alloted 15 minutes to the CDC presentation on awareness to DTC tests. The CDC funded three states to study awareness of DTC testing as well as utilization of DTC testing. They also performed a national study. The presentation reviewed this data and of note there were some intersting findings

1. Only 0.6% of the national population has used DTC tests (BTW that's 1.8 milllion people)


2. 14% of the US population is aware of DTC testing


3. 73% of those who were aware, heard through the media


4. Yet over 60% who used the tests were directed by DOCTORS!!!!!!

In addition a survey was administered to physicians. This DocStyles study had 555 physicians who were aware of DTC testing. Of Those

1. Only 4% of MDs report >10% of their patients asking for DTC testing


2. And an amazing 93% of physicians report <1%>
   
3. 96% of physicians report Journal Articles as the most trusted source for Genetic Testing Information. ONLY 6% report that other health professionals are a trusted source for Clinical Testing! (Does this include CGCs or Geneticists?)


4. The majority of info physicians receive on DTC testing is from the media, not Journals.

The Sherpa Says: There are some limitations with the public studies. One thing is for sure.....The media has a powerful lock on distribution of this information. Did you hear that Mr Murdoch? I am truly scared that the physicians do not find other physicians knowledgeable or trustworthy. YIKES!!!!

More Than DeCODE found!!

In one of the most comprehensive evaluations of diabetes risk genes "researchers from the University of Michigan, the National Human Genome Research Institute, the University of Southern California, the University of North Carolina, and Finland's National Health Institute, have identified at least four new genetic variants associated with increased risk of diabetes and confirmed existence of another six.

The findings will be posted today in the online edition of the journal Science" This news was in Medical News Today. The findings include several genes which were not found by the DeCODE company. The Science papers confirmed six other genetic regions that others had previously identified as having a connection to type 2 diabetes.
Kári Stefánsson, the chief executive officer of deCODE, notes that a smaller sample size may help explain why his team didn't report two of the three new variants found by the three groups that pooled their data.
The story is not over for diabetes. I will maintain that any genetic testing being offered to the public right now is premature. We have replication studies. But what is really needed is analysis of a risk panel.

Dave Altshuler quoted in Science Now and the Gene Sherpa agree :"The findings are just the beginning of what GWA studies will accomplish, notes David Altshuler, the director of the program in medical and population genetics at the Broad Institute in Cambridge, Massachusetts, who helped lead one of the teams reporting results today. The next step is to sequence these regions and confirm the relevant genes. Figuring out how they work "is going to take great creativity and insight," says Altshuler, as will determining how and when to apply the results to patients." So would I run out to take the Direct to Consumer TCF7L2 test?...NO. It likely will just confuse the situation.

Breast cancer and genetic discrimination, relics of the past

Sorry so long since the last post.
2 MAJOR things came across my radar yesterday. Unfortunately I was giving a lecture on DNA Day to some medical students, so I could not post. Without further ado

Number 1 Congratulations to The United States House of Representatives, they finally passed GINA. If you don't know, this bill has been trying to be passed in some form or another for over 10 years. Some say that this is one of the major limitations to everyone getting their genes tested. Even the Harris Poll from 2002 documents this. So what does that mean for genetics.....Well, it is on to the Senate, where in 2005 a form of this legislation passed unanimously. Given the department of health and human services/Presidential push for Personalized Medicine it is likely to become a reality this year.

Number 2
Given the atmosphere in the US, there seems to be a similar push in the UK. This time it is for pre-implantation genetic diagnosis and breast cancer. Yes I agree a horrible disease and personally I feel that we must have early detection and prevention of breast cancer. In the UK there is application being presented to the Human Fertilisation and Embryology Authority to test for BRCA1 in embryos. What do you think? Is this technology going to come to the US?

Gene Sherpa says.....REI specialists very often do not have training in Medical Genetics per se. That makes me a little leery. Especially when they have yet to standardize the medium in which they grow the embryos. Why is this an issue? Because environment plays a key role in telling DNA what to do. At the same time, to prevent other cancers it is already being done in the US.