Tuesday, November 30, 2010
Posted by Steven Murphy MD at 5:49 AM
Wednesday, November 24, 2010
Thursday, November 18, 2010
From the article:
Researchers administered a gene-based predisposition test that incorporates 20 genetic markers associated with smoking-related lung damage and propensity to lung cancer along with clinical factors including age, family history and diagnosis of chronic obstructive pulmonary disease to derive a risk score on a 1 to 12 scale with higher scores correlating with higher risk.
Ok, new score with 20 markers, family history and age and clinical data....sounds reasonable. Has anyone else validated this tool????
“At scores of 6 or more … only 25 percent of otherwise eligible smokers would be screened but over half of lung cancers would potentially be detected, many in a treatable stage,” concluded Young and colleagues, who suggested that increasing the detection rate of lung cancer per number of patients screened could improve the cost-effectiveness of CT screening.
Ok, so did you get the jump? Did you catch it? "Who Suggested"
This guy who designed a genetic panel AND NEVER TESTED IT IN CONJUNCTION WITH CT CHEST SCREENING, is suggesting that using the test could increase the cost effectiveness of CT Screening, without one single solitary IOTA or shred of evidence of this.
This would be the same Dr. Young who found that genetic testing for a smoking cessation program likely doesn't have cost effectiveness or at best is uncertain.
Yet Respiragene is being held up as a great test!
One word that makes me suspicious is the word "Testamonials"
That word alone reminds me of the time I was bamboozled into going to multi level marketing events for proton pills and the like. You know, they all had lots of "Research" behind them.
Put simply, we do not know if gene screening PRIOR to CT Chest screening for lung cancer does any of the following things
1. Make CT Screening more cost effective
2. Personalizes medicine, targeting radiation to only those who need the test
3. Improves outcomes and detection rates of lung cancer.
That research is not available today. Nor will it be in one year.
My Advice, hold off on this one for now.
The Sherpa Says: Parroting an esteemed researchers OPINION as if it were scientific fact is a great way to get yourself in trouble and an even greater way to confuse the community! But it is the best way to get a test sold.
Thursday, November 11, 2010
How do you face life as a 22 year old if you carry a genetic variant for an incurable illness that will most likely strike in middle age?
Amy Harmon is hosting a fantastic course that will be starting November 15th. You better hurry up and register because space is limited and closing on the 14th of November.
What will be covered?
The course will have weekly live online sessions with the instructor as well as self-paced lessons filled with original content covering the weekly topics. All live sessions and course material can be accessed directly within the online course.
Prenatal testing can go into deep detail about an unborn baby’s prospects for the future. How much of this do we want to know? To share?
These questions and more will be addressed. If there is one thing I know. Amy is certainly a fantastic teacher, educator, and discussion leader!
I do miss conversations like those with her!
You too can have that kind of expertise. Register before November 14th!
I am certain you will enjoy this set of topics and have directed many people this way already.
The Sherpa Says: Family history picks up life threatening disease, DTCG tests probably not so much. That being said, what's the ethical quandry with either? Ask Amy and find out!
Posted by Steven Murphy MD at 5:59 PM
Wednesday, November 10, 2010
Here are the top ten reasons why in its current state, direct to consumer or otherwise, genomic testing for cardiovascular disease risk is dead in the water
1. Family History Risk paints a far better picture and IT IS FREE
2. Reynolds and Framingham risk paint a more accurate picture
3. An independent panel has reviewed 58 variants, 29 genes, and gave the thumbs down.
4. The highest increased risk from any of these tests is 30%, Fam Hx can be as high as 500%
5. Kif6 was just shot down as a useful marker.
6. Clinical Utility has not been evaluated in ANY of these tests.
7. Spit Parties don't lower cholesterol
8. The FDA is hunting down these type of crazy claims!
9 . Topol's heart attack gene didn't pan out, why would these?
10. A recent 23 gene panel failed to make the grade as well.
Let me be crystal clear.
I am glad that the number one reason for ordering a DTCG test was curiosity and not true medical concern in the "early adopters"
But I am concerned that may not be the case for the next wave. I am concerned they will take these genetic tea leaves and use them.
The problem, most of these tests are disproven or will be in the next couple of years.
Loose associations with small increased risks sounds a lot like fortune telling or phrenology. Or hell, even birth order....
Someday we will have good predictive models, 10-15 years from now. But NOT Now! Do you hear that VC country, SV, NYC, Hedgies?
10 year exit strategy. Not 2 not 8. So stop hyping this bull$h!t and go invest in Gold or Commodities or something for the love of god!
The Sherpa Says: Did you hear the one about the research geneticist? He keeps telling his wife how great their sex life WILL BE! Someday we will have this tool, let's try not to burn out and cynicize the public yet.....HT Francis Collins