Recent items - Gene Sherpas: Personalized Medicine and You
Plavix and 2C19 BrewHahHah
01/09/2010 01:46
Yes,I am a little slow Yes,It has been a long time. But,I am back. With a serious hankering to smash some studies. I already pooh pooh'd the Migraine SNP study on Twitter, but the Plavix stuff.....That deserves a blogpost. To quote a famous caridologist and friend "If Plavix really didn't work for 30% of patients, why don't we see more in-stent thrombosis?" Translation: Your science is nice, but how does it fly in the real world? I have to tell you, at first I couldn't answer. It was a great que [...]
01/09/2010 01:46
Yes,I am a little slow Yes,It has been a long time. But,I am back. With a serious hankering to smash some studies. I already pooh pooh'd the Migraine SNP study on Twitter, but the Plavix stuff.....That deserves a blogpost. To quote a famous caridologist and friend "If Plavix really didn't work for 30% of patients, why don't we see more in-stent thrombosis?" Translation: Your science is nice, but how does it fly in the real world? I have to tell you, at first I couldn't answer. It was a great que [...]
What is medical testing? Why it matters for DTCG survival.
06/08/2010 02:45
I just was threatened by Daniel MacArthur over at GenomesUnzipped that he was about to delete my comments.He called it trivial. I think he is missing the tremendously simple point.Why is the FDA mad as hell? Medical Claims.Hell, they even told Mary Carmichael in the interview.Alberto Gutierrez = AG"AG: The concern is with everything.""AG: The law requires us to clear devices or approve devices BEFORE they go into the marketplace when they make medical claims"This to me is crystal clear. Make a m [...]
06/08/2010 02:45
I just was threatened by Daniel MacArthur over at GenomesUnzipped that he was about to delete my comments.He called it trivial. I think he is missing the tremendously simple point.Why is the FDA mad as hell? Medical Claims.Hell, they even told Mary Carmichael in the interview.Alberto Gutierrez = AG"AG: The concern is with everything.""AG: The law requires us to clear devices or approve devices BEFORE they go into the marketplace when they make medical claims"This to me is crystal clear. Make a m [...]
Reporter Mary Carmichael, will she do it? Newsweek and DTC Genomics!
03/08/2010 16:16
" I don't even know if that was a hammer that got dropped on their heads. More like a piano."-Anon Quote re: DTCG and Congressional hearings....When Ms. Carmichael approached me to answer a burning question for her. She got an answer alright, more like a diatribe and then and answer.In case you didn't know, Mary is a writer for Newsweek and is thinking about doing a DTC genetic test kit. In fact, she bought the kit and it is staring her in the face. FYI, she's not in New York, where such activit [...]
03/08/2010 16:16
" I don't even know if that was a hammer that got dropped on their heads. More like a piano."-Anon Quote re: DTCG and Congressional hearings....When Ms. Carmichael approached me to answer a burning question for her. She got an answer alright, more like a diatribe and then and answer.In case you didn't know, Mary is a writer for Newsweek and is thinking about doing a DTC genetic test kit. In fact, she bought the kit and it is staring her in the face. FYI, she's not in New York, where such activit [...]
Another Ho Hum for SNPs, FGFR2 and breast cancer risk.
29/07/2010 15:09
The setting: Salvage of SNPs for Breast Cancer risk prediction published in JAMA yesterday.The study: Women, 10306 with breast cancer mean age of Dx 58, 10393 sans breast cancer.Outcomes: 1. Highest OR is 1.3 to predict Estrogen Receptor (ER) Positive vs ER negative with rs2981582 and 1.24 for rs38036622. The rest of the results were so suspect that the authors didn't include them in the abstract"Certain Established risk factors for breast cancer have similar or even greater effects on breast c [...]
29/07/2010 15:09
The setting: Salvage of SNPs for Breast Cancer risk prediction published in JAMA yesterday.The study: Women, 10306 with breast cancer mean age of Dx 58, 10393 sans breast cancer.Outcomes: 1. Highest OR is 1.3 to predict Estrogen Receptor (ER) Positive vs ER negative with rs2981582 and 1.24 for rs38036622. The rest of the results were so suspect that the authors didn't include them in the abstract"Certain Established risk factors for breast cancer have similar or even greater effects on breast c [...]
FDA Tuesday, Congress TODAY. More letters for DTCG.
22/07/2010 14:30
I read with great interest Dan Vorhaus' post on the new letters sent to DTCG companies this week.While it seems to me that these letters were probably planned beforehand, they may indeed be just trying to batch the "Publicized" I.E. Venture funded DTCG with the private funded DTCG. BEFORE, congress has a chance to sit down with the Big Money DTCG.....I also disagree with his take that the FDA has worsened its position of trust with the LDT companies via these letters. In fact, what is going on a [...]
22/07/2010 14:30
I read with great interest Dan Vorhaus' post on the new letters sent to DTCG companies this week.While it seems to me that these letters were probably planned beforehand, they may indeed be just trying to batch the "Publicized" I.E. Venture funded DTCG with the private funded DTCG. BEFORE, congress has a chance to sit down with the Big Money DTCG.....I also disagree with his take that the FDA has worsened its position of trust with the LDT companies via these letters. In fact, what is going on a [...]
FDA LDT meeting, bigger than just DTCG!
20/07/2010 03:34
At the FDA public hearing today, I began to hear a collective groan. The groan was from the LDT community that provide tests that are actually in clinical use today. You, see, this hearing is much more about LDT than it is about little 'Ol DTCG.DTCG in fact was the perp walk that allowed LDT to now fall under question. For years, Home Brew labs up at Yale and Harvard and GeneDx and I could go on and on, went unscathed from FDA regs. Why? The tests were used by so few people and the case for harm [...]
20/07/2010 03:34
At the FDA public hearing today, I began to hear a collective groan. The groan was from the LDT community that provide tests that are actually in clinical use today. You, see, this hearing is much more about LDT than it is about little 'Ol DTCG.DTCG in fact was the perp walk that allowed LDT to now fall under question. For years, Home Brew labs up at Yale and Harvard and GeneDx and I could go on and on, went unscathed from FDA regs. Why? The tests were used by so few people and the case for harm [...]
FDA and the DTCG company MashUp.
16/07/2010 02:31
I know I said I would stop writing about 23andSerge. I will, but I am still going to write about what I think may go down next week in D.C. Land.As you may know, I am a big supporter of classifying DTCG tests in certain ways1. If the company has purported some sort of health benefits or decisions regarding medical care for a test, then it should be classified as a medical device and regulated as such. Class II or Class III2. If a DTCG test does actually have medical implications for treatment, d [...]
16/07/2010 02:31
I know I said I would stop writing about 23andSerge. I will, but I am still going to write about what I think may go down next week in D.C. Land.As you may know, I am a big supporter of classifying DTCG tests in certain ways1. If the company has purported some sort of health benefits or decisions regarding medical care for a test, then it should be classified as a medical device and regulated as such. Class II or Class III2. If a DTCG test does actually have medical implications for treatment, d [...]
Longevity Gene Study, The hype cycle must die!
06/07/2010 02:57
You know what I love. I love a good story. Magic research discovers Longevity genes, now humans live to 900. Just like Methusaleh. Great headline. Unfortunately, this may not exactly turn out what it was cracked up to be.From the WSJ 1 July 2010"Scientists discover keys to long life""By analyzing the DNA of the world's oldest people.......They expect soon to offer a test...."Tranlsation, here is why you should read this story about this amazing discovery, because soon you can take a test to disc [...]
06/07/2010 02:57
You know what I love. I love a good story. Magic research discovers Longevity genes, now humans live to 900. Just like Methusaleh. Great headline. Unfortunately, this may not exactly turn out what it was cracked up to be.From the WSJ 1 July 2010"Scientists discover keys to long life""By analyzing the DNA of the world's oldest people.......They expect soon to offer a test...."Tranlsation, here is why you should read this story about this amazing discovery, because soon you can take a test to disc [...]
No more 23andMe blog posts. The Sherpa has achieved his goals.
25/06/2010 01:41
I am absolutely done talking about 23andMe.Yes, you have heard correctly.That doesn't mean I will stop watching what they are doing.It means that I have coerced them into doing what's right. For now. From the very beginning 23andMe had potential, heck Dr. Jeremiah Mahoney told me they came up to Yale to see them.They must have not liked what Yale said, because they went further up the line and partnered with George Church.Well, they def. didn't like what I had to say.I had even conjectured abo [...]
25/06/2010 01:41
I am absolutely done talking about 23andMe.Yes, you have heard correctly.That doesn't mean I will stop watching what they are doing.It means that I have coerced them into doing what's right. For now. From the very beginning 23andMe had potential, heck Dr. Jeremiah Mahoney told me they came up to Yale to see them.They must have not liked what Yale said, because they went further up the line and partnered with George Church.Well, they def. didn't like what I had to say.I had even conjectured abo [...]
Ok, Spam Botted! Prasugrel PLUS 2C19 PM has better outcome.
15/06/2010 04:25
Alright, so I just found out that I posted a spam bot post. Not from a nice student named Ashley.Instead what I will post is a subgroup analysis of TRITON TIMI 38. The subgroup analysis? 2C19 PMs and Prasugrel.Great clinical question-Did the PMs (poor metabolizers) on Prasugrel fare better than the PMs on Plavix. The obvious answer: Duh, of course yes.But Always we need some science and statistics here. Individuals with a CYP2C19 reduced-metabolizer genotype were estimated to have a substant [...]
15/06/2010 04:25
Alright, so I just found out that I posted a spam bot post. Not from a nice student named Ashley.Instead what I will post is a subgroup analysis of TRITON TIMI 38. The subgroup analysis? 2C19 PMs and Prasugrel.Great clinical question-Did the PMs (poor metabolizers) on Prasugrel fare better than the PMs on Plavix. The obvious answer: Duh, of course yes.But Always we need some science and statistics here. Individuals with a CYP2C19 reduced-metabolizer genotype were estimated to have a substant [...]
Answer to GenomicsLawyer's Question. What the FDA will do with DTCG.
12/06/2010 13:32
Dan Vorhaus JD on his blog says "The path of least resistance may be to simply agree with the FDA....The viability will depend on how the FDA intends to categorize the specific product...."I agree, these companies have big choices to make. If it is any indication, Counsyl (full of smart people) and now, Pathway Genomics (full of smart people) have both decided to go the route of Medical test.Perhaps it is because they think the burden will cost less to investors than fighting the "Man"Well, in g [...]
12/06/2010 13:32
Dan Vorhaus JD on his blog says "The path of least resistance may be to simply agree with the FDA....The viability will depend on how the FDA intends to categorize the specific product...."I agree, these companies have big choices to make. If it is any indication, Counsyl (full of smart people) and now, Pathway Genomics (full of smart people) have both decided to go the route of Medical test.Perhaps it is because they think the burden will cost less to investors than fighting the "Man"Well, in g [...]
I am glad we can all put this behind us. FDA rules on DTCG.
11/06/2010 19:46
As you now may be aware. DTCG is considered a medical diagnostic according to the FDA. I look forward working with companies who may now allow me to use their tests for medicine. The Sherpa Says: If we work together, we can deliver the best preventative and personalized care in the world!
11/06/2010 19:46
As you now may be aware. DTCG is considered a medical diagnostic according to the FDA. I look forward working with companies who may now allow me to use their tests for medicine. The Sherpa Says: If we work together, we can deliver the best preventative and personalized care in the world!
Cellulite On Your Bod? Blame your genes! Or market 'em!
11/06/2010 03:26
Could I go on a huge rant about 23andMes mess up and how it was discovered by a customer rather than LabCorp or 23andMe?Yes. Would it be useful?No.Why?I need to save my rants, and any doctor will tell you, labs screw up all the time.It is something we are used to thinking.So much so, that a knee jerk answer for a lot of doctors is to repeat a test if the results are so far out there.......So, my rant today will be directly placed at the rocket scientists who dreamed up CelluliteDX"The Cellulit [...]
11/06/2010 03:26
Could I go on a huge rant about 23andMes mess up and how it was discovered by a customer rather than LabCorp or 23andMe?Yes. Would it be useful?No.Why?I need to save my rants, and any doctor will tell you, labs screw up all the time.It is something we are used to thinking.So much so, that a knee jerk answer for a lot of doctors is to repeat a test if the results are so far out there.......So, my rant today will be directly placed at the rocket scientists who dreamed up CelluliteDX"The Cellulit [...]
DTC Genomics adjusts for regulations. 23andCGC?
05/06/2010 00:26
In a blatantly obvious, why the hell werent they doing that in the first place? move.23andSerge acknolwedges, finally, that they ARE Providing clinically important work. Duh, Since the website won't let me copy the presser, I will quote, with my own translation through business BS speak."23andMe customers now have the option to speak with a board certified genetic counselor" -Translation, we realized that by testing BRCA mutations we put people at risk and needed some back up from someone who kn [...]
05/06/2010 00:26
In a blatantly obvious, why the hell werent they doing that in the first place? move.23andSerge acknolwedges, finally, that they ARE Providing clinically important work. Duh, Since the website won't let me copy the presser, I will quote, with my own translation through business BS speak."23andMe customers now have the option to speak with a board certified genetic counselor" -Translation, we realized that by testing BRCA mutations we put people at risk and needed some back up from someone who kn [...]
5 Days after the Quake Critique
01/06/2010 17:15
I want to know, when everyone got all upset with my review of the Quake paper and bashed me on this blog. Why?Why did no one post on the Viewpoint put out in The Lancet exactly 5 days after my review?What did my review say? You can read my analysis of the Quake Paper here.I will keep this brief, as I will be speaking precisely on this topic on Thursday at the Consumer Genomics Conference.Maybe no one read the viewpoint?Today I was able to read the "Challenges in the clinical application of whole [...]
01/06/2010 17:15
I want to know, when everyone got all upset with my review of the Quake paper and bashed me on this blog. Why?Why did no one post on the Viewpoint put out in The Lancet exactly 5 days after my review?What did my review say? You can read my analysis of the Quake Paper here.I will keep this brief, as I will be speaking precisely on this topic on Thursday at the Consumer Genomics Conference.Maybe no one read the viewpoint?Today I was able to read the "Challenges in the clinical application of whole [...]
Breaking 23andMe's Terms of Service: Not just the patient's problem.
26/05/2010 15:49
A blogger over at 5Am Solutions Blog is about to break 23andMe's Terms of Service."So I called my primary care physician's office and told the appointment-taker I wanted to discuss my 23andMe results with my doctor. She said 'ok' and scheduled an appointment for next week."May I just add. It is not the doctor breaking the Terms of Service here. It is the customer by bringing it in to their doctor.From Andrew Yates Blog at ThinkGene"BOOM! That patient coerced that doctor into malpractice liabilit [...]
26/05/2010 15:49
A blogger over at 5Am Solutions Blog is about to break 23andMe's Terms of Service."So I called my primary care physician's office and told the appointment-taker I wanted to discuss my 23andMe results with my doctor. She said 'ok' and scheduled an appointment for next week."May I just add. It is not the doctor breaking the Terms of Service here. It is the customer by bringing it in to their doctor.From Andrew Yates Blog at ThinkGene"BOOM! That patient coerced that doctor into malpractice liabilit [...]
DTC Genomics reviewed in Genetics in Medicine
24/05/2010 14:11
I just received the May issue of Genetics in Medicine, only 24 days late. But it caught my attention for several reasons.1. The issue is covering Adult Topics almost exclusively this month2. They review the Multigenic risk assessment in DTCGGranted this article was a single author MBA, it was notable at the work she must have put in to this review.Methods:1st she did an extensive analysis of the service 23andMe, Navigenics, deCodeMe, Gene Essence. She assembled the 20 multigenically evaluated co [...]
24/05/2010 14:11
I just received the May issue of Genetics in Medicine, only 24 days late. But it caught my attention for several reasons.1. The issue is covering Adult Topics almost exclusively this month2. They review the Multigenic risk assessment in DTCGGranted this article was a single author MBA, it was notable at the work she must have put in to this review.Methods:1st she did an extensive analysis of the service 23andMe, Navigenics, deCodeMe, Gene Essence. She assembled the 20 multigenically evaluated co [...]
Thomas Goetz has the wrong debate. FDA doesn't intend to restrict.
22/05/2010 20:49
I think everyone in this space has been way off base as to what the problem is with FDA and Congress wanting to investigate the DTC Genomics companies. The whole mindset is wrong. What I hear from this debate is "It's my data, mine, mine, mine. Gimmee, Gimmee, you can't keep me from my data Big Brother!"From Mr Goetz's Blog"The controversy seems to have stirred the FDA to assert its authority – and that of physicians – over any and all medical metrics." "To me, getting access to this informatio [...]
22/05/2010 20:49
I think everyone in this space has been way off base as to what the problem is with FDA and Congress wanting to investigate the DTC Genomics companies. The whole mindset is wrong. What I hear from this debate is "It's my data, mine, mine, mine. Gimmee, Gimmee, you can't keep me from my data Big Brother!"From Mr Goetz's Blog"The controversy seems to have stirred the FDA to assert its authority – and that of physicians – over any and all medical metrics." "To me, getting access to this informatio [...]
How Bad Can a House Investigation be for DTC Genomics?
20/05/2010 14:16
Ok, so you've been summoned to Congress to testify It won't be that bad if you know what you are in for. So let's review.1. A chart listing the conditions, diseases, consumer drug responses, and adverse reactions for which you test;2. All policy documents, training materials, or written guidance materials regarding genetic counseling and physician consultations, including documents regarding what conditions, diseases, drug responses, or adverse reactions trigger the need for genetic counseling o [...]
20/05/2010 14:16
Ok, so you've been summoned to Congress to testify It won't be that bad if you know what you are in for. So let's review.1. A chart listing the conditions, diseases, consumer drug responses, and adverse reactions for which you test;2. All policy documents, training materials, or written guidance materials regarding genetic counseling and physician consultations, including documents regarding what conditions, diseases, drug responses, or adverse reactions trigger the need for genetic counseling o [...]
Couldn't you have picked a better Gene Set Berkeley?
19/05/2010 14:49
I admire UC Berkeley for pushing the envelope. They have been doing it for decades. Encouraging risk taking, and defying stereotypesBut when I read about their summer research project I cringed.We are going to test students' ADH and tell them whether or not they can process alcohol properly.......Excuse me? Ok, I get it, poor metabolizers will cut down on drinking so much, The UC saves on risk management insurance, win for the administration and win for the educators who will then "teach" about [...]
19/05/2010 14:49
I admire UC Berkeley for pushing the envelope. They have been doing it for decades. Encouraging risk taking, and defying stereotypesBut when I read about their summer research project I cringed.We are going to test students' ADH and tell them whether or not they can process alcohol properly.......Excuse me? Ok, I get it, poor metabolizers will cut down on drinking so much, The UC saves on risk management insurance, win for the administration and win for the educators who will then "teach" about [...]
Potential of genomic medicine, LOST
17/05/2010 16:11
I was reading and often read Mark Henderson of the TimesThe piece I just read about the "Potential of genomic medicine could be lost, say science think-tanks"The piece basically comes down to one conclusion. We have no proof that most of this stuff is useful in any form.This is something that I have been shouting from the roof tops ever since some self deluded socialite from Mountain View decided to say "Genetic testing is for fun"Seriously DTCG. You knew this day was coming. You tried to play y [...]
17/05/2010 16:11
I was reading and often read Mark Henderson of the TimesThe piece I just read about the "Potential of genomic medicine could be lost, say science think-tanks"The piece basically comes down to one conclusion. We have no proof that most of this stuff is useful in any form.This is something that I have been shouting from the roof tops ever since some self deluded socialite from Mountain View decided to say "Genetic testing is for fun"Seriously DTCG. You knew this day was coming. You tried to play y [...]
GateKeeper? F! U!
12/05/2010 02:41
Dan Vorhaus recently had a great post about the FDA coming in to carpet bomb DTC now OTCGenomics.But what I am pissed off about is everyone using the term gatekeeper connoting a doctor required to do something.What the FCUK do you think I am? A gatekeeper is a lot like a door man. I don't get your bags. I don't just open the door for you.I am not profiting from the test that is ordered.I am saving your f'ing life.Stop calling me GateKeeper and call me what I am.Doctor. Sworn to save your life.
12/05/2010 02:41
Dan Vorhaus recently had a great post about the FDA coming in to carpet bomb DTC now OTCGenomics.But what I am pissed off about is everyone using the term gatekeeper connoting a doctor required to do something.What the FCUK do you think I am? A gatekeeper is a lot like a door man. I don't get your bags. I don't just open the door for you.I am not profiting from the test that is ordered.I am saving your f'ing life.Stop calling me GateKeeper and call me what I am.Doctor. Sworn to save your life.
Last post edited by Drew
11/05/2010 17:18
"Clinical Assessment Incorporating A Personal Genome"The clinical assessment was incomplete.It was missing the following items1. A Physical Exam2. A Complete Pedigree with ethnicity3. Appropriate Clinical Laboratory testing4. A Full Social HistoryGrade?D minus.Adjusted for curve a good solid B minusBut ultimately, this novel approach is clinically unfeasible. Why? The manpower alone required to perform this "clinical" analysis is unsustainable for 300 Million people.
11/05/2010 17:18
"Clinical Assessment Incorporating A Personal Genome"The clinical assessment was incomplete.It was missing the following items1. A Physical Exam2. A Complete Pedigree with ethnicity3. Appropriate Clinical Laboratory testing4. A Full Social HistoryGrade?D minus.Adjusted for curve a good solid B minusBut ultimately, this novel approach is clinically unfeasible. Why? The manpower alone required to perform this "clinical" analysis is unsustainable for 300 Million people.
Personal Genomes in Clinical Care. Quake paper Falls Short!
11/05/2010 02:34
With all due respect to the scientists involved in analyzing Stephen Quake's genome in clinical context.You did a major league $h!tty job.No offense. I can only assume this based on what you reported in the lancet paper.Start by asking yourself."Is Stephen healthier because of what that genome and clinical assessment added to his care?"I am speaking precisely on this topic at the Consumer Genomics Conference on June 3rd at 830 AM. So I will hold off on all my arguments....But,The Paper even says [...]
11/05/2010 02:34
With all due respect to the scientists involved in analyzing Stephen Quake's genome in clinical context.You did a major league $h!tty job.No offense. I can only assume this based on what you reported in the lancet paper.Start by asking yourself."Is Stephen healthier because of what that genome and clinical assessment added to his care?"I am speaking precisely on this topic at the Consumer Genomics Conference on June 3rd at 830 AM. So I will hold off on all my arguments....But,The Paper even says [...]
Coriell Personalized Medicine Collaborative rising
07/05/2010 03:30
This evening I want to write about something amazing I recently was able to participate in. It was the first meeting of the Pharmacogenomics Advisory Group. This group, chaired by Issam Zineh is pretty amazing. Let me tell you why.1. Members of PAG have been involved in pharmacogenomic studies involving most if not all current markers2. They include members/contributors of PharmGKB, FDA, AAPS award winners, Howard MacLeod, I could go on and on.....and one lowly blogger and clinical personalized [...]
07/05/2010 03:30
This evening I want to write about something amazing I recently was able to participate in. It was the first meeting of the Pharmacogenomics Advisory Group. This group, chaired by Issam Zineh is pretty amazing. Let me tell you why.1. Members of PAG have been involved in pharmacogenomic studies involving most if not all current markers2. They include members/contributors of PharmGKB, FDA, AAPS award winners, Howard MacLeod, I could go on and on.....and one lowly blogger and clinical personalized [...]