Trick or Treat..... That's Russ Altman, Disguised as a Wolf-Man!!!
First the Treat!
Ok, so I hate to say it, but I am firmly convinced that the New England Journal of Medicine has been taken over by geneticists!!! I jump for glee as I open a new edition and see genetics plastered all over it.....just like the week before......and the week before that! It is true....medicine will soon be a small sub specialty of genetics!!!!!! At least if the NEJM has their way with it!
Now for the Trick
But then I stop....pinch myself and ask "Now which company will rush to market with these findings???"""
The biggest danger to Personalized Medicine is not the lack of physician understanding. Nor is it the lack of good reimbursement systems. Nor is it the lack of education in medical school. Nor is it the lack of patient desire.
It is one thing and one thing alone.......The overselling of Genomics by corporations. 9p21! Failure to replicate!
Eager to earn a quick buck or two.....or perhaps eager to bleed cash for a few years until the tide comes in, but also willing to mend that bleed by hyping some bogus test...
This is the danger.....Why? Let me explain....
When I give grand rounds at some hospital in Connecticut I am often asked......"So do you do that 23andMe test? Isn't it bogus? Isn't most of what you do not actionable?" First I am amazed a doctor has even heard of this company...but then.....
I then have to take 10 minutes and explain what a geneticist does. I have to tell them about the several victories we have in being able to identify risk and treat disease. I have to tell him about chemotherapeutic agents targeted to tumors. I then have to tell him about the promise of gene based dosing of medications. And when I am done, they will walk away......Still thinking about these companies.....
You see, if the physician thinks that genetics is hyped up molecular tea leaves.....they are less likely to put it into practice. In fact they are even more likely to skip that article in the NEJM......By hyping, overselling genomics we are making physician skeptics. The very people we have to convince that there is great utility in personalized medicine......
When Time puts on their cover that the number one "Invention" (I say this because it wasn't invented in 2008) was the retail genomic test. I laugh because they are dead wrong and once again botched the story. You can ask Ryan Phelan, she has been selling genetic tests online since 2004. No new invention with 23andMe, just the re purposing of a research tool for clinical work....which normally takes years to happen, but in this case was rushed to market in a matter of months.....Medgadget calls this like it is TIME Magazine Panders to Google Overlords, Silicon Valley Czars, Hollywood Charlatans.......
So thank you DTC SNP testing companies.....you have set back personalized medicine about 5 years...while democratizing SNP chip data which no one can make sense of......By using celebrity and affluence you managed to convince people of the fallacy.....
But you see, doctors are pragmatic and they can smell the B.S. (Not the one issued to A.W. at Yale) from a mile away!
But the problem is, doctors aren't that nuanced and when they smell B.S. they call the whole field B.S.
So why do most geneticists speak out against DTC testing? Because it is ruining personalized medicine by lumping it in with this B.S. When will DTC learn this?
Well, one team has....That's Navigenics. They have decided to partner with Academia to study the utility of this testing. They understand it is in its infancy. Since the million dollar party in SoHo (No Navigenics doesn't have a shop in SoHo) they have realized that this is a long haul and the best way to work through this time is by proving the concept through science and an Institutional Review Board. Unlike the "Founders" of 23andMe, who instead choose to enroll children into their "study" without an independent review board to protect vulnerable children's rights....
Shout out to Coriell who has been doing the "Right Thing", since the very beginning....but I guess that's because they aren't trying to make a quick buck or 2.
So as a doctor when you skip over that Genetics article in the NEJM thinking this field is all GenoHype....stop, come see the Sherpa and we can talk about the part of genetics which is real.....
The Sherpa Says: I am dead serious. If this "it's for fun talk" keeps up, personalized medicine will be dead in the eyes of the physician....Oh and BTW, the article said that CRP polymorphsims (associated with increased CRP) alone do not increase risk of ischemic vascular disease (Heart attack or stroke), But elevated CRP levels do......Maybe genes aren't everything?????
Friday, October 31, 2008
Trick or Treat..... That's Russ Altman, Disguised as a Wolf-Man!!!
Thursday, October 30, 2008
The saliva kit we provide for participation in our service is not optimized for children under three years of age. If you are purchasing a kit for an infant or toddler, it may be difficult to obtain the required amount of saliva.
I am so very proud of 23andMe. There was some big issue with their consent and policy, in fact something I expressed grave concern about. That was the indication that 23andMe/Google would own your DNA sample.....
From their site:
With the exception of your saliva sample, 23andMe does not claim ownership of the materials you provide to 23andMe (including feedback and suggestions) or post, upload, input, or submit to the Service (collectively "Submissions")
Yes.....it was a natural conclusion. Especially when the website indicated that the sample would be the property of the company. This is the case with many other things. If you mail something to a company, the company then assumes ownership of it. In this case, I had very grave concerns that 23andMe could (not necessarily would) run other tests on your sample without your permission. Heck, they could even use it to clone you....why? The DNA was theirs, not yours. Scary at best!
But now in a wonderfully socially responsible act they include this in their informed consent.
Genetic Data: The laboratory processing your saliva sample will analyze your DNA to determine your genetic information. The laboratory will not analyze your saliva for any biological or chemical components, markers or agents other than your DNA. The laboratory will not have access to your name or your other personal information. A unique bar code will allow 23andMe to link genetic data derived from your sample to your account. After analysis, your remaining DNA and saliva samples will be destroyed.
Hooray!!! 23andMe, thank you so much for clearing that up. This was the really big issue I had with your service......there are several other little issues, including the possibility of someone else getting your DNA and submitting it to 23andMe...but heck, you guys can't control all the nefarious people out there.........yet
I know that I am tough on this company.....and for good reason.....Everyone else is cheering them on. If you have no critic, how do you judge yourself? This company is going to be around for a very long time, so I ask them to remember that they are the role model for others who will follow.....
Maybe that's why I get so mad at them.......Maybe they haven't heard Uncle Ben's quote.....
"With great power comes great responsibility"
This is even more important as the echoes of detractors starts to grow!
The Sherpa Says: It is nice to see 23andMe take this big step.......
Posted by Steve Murphy MD at 3:15 AM
Wednesday, October 29, 2008
Jordana and the "Team" at Access DNA have a form which evaluated my extensive family history and have come up with a list of genetic tests I should be tested for......little did she know that this was a list for the Sherpa and the she as a Board Certified Genetic Counselor would have to be walking me through each and every one of these tests......Her "team" by the way is only her and some advisors.....2 of them have medical degrees, but none of them are giving advice...other than Jordana.....as far as I can tell........
So today I will call Jordana J and see if she can talk to me about some of the "recommended tests" and conditions....such as:
1. Whole Genome Scanning for Aneurysm Risk (Bogus)
2. Whole Genome Scanning for Asthma Risk (Suspect at best)
3. Whole Genome Scanning for Athletic Performance (Why not just play a sport?)
4. Stool Screening for Colon Cancer @ 575 USD a pop (Uh......family history?)
5. Whole Genome Scanning for Heart attack at 2500 USD a pop
6. Weight loss SNP testing for 424 USD.....(Maybe my pockets will be lighter)
7. SNP testing for lung cancer predisposition (What are THEY smoking?)
I hope you get the picture, these were just a few of the 37 genetic tests this board certified genetic counselor recommended I get.
The Sherpa Says: When the NSGC blasts me for pointing out that genetic counselors were never medically trained AND that they couldn't explain PgX or other medical conditions without a physician involved.....I find this....Jordana J, board certified genetic counselor going out and pushing suspect genetic tests. NSGC better get a hold of their membership. This is precisely my concern.......Does the phrase "Over your ski tips" sound reasonable? This is why physicians and counselors NEED to work together on personalized medicine, not CGCs alone on an island! Like the CGC at AcessDNA.
Tuesday, October 28, 2008
It's mid-morning and the day is just getting moving. We had a round up today and talked about Brugada Syndrome. I think this is a wonderful topic and it was presented very nicely. It was also a timely topic......
You see Dr. Look, an internist in Germany commented on the lack of medical training for human geneticists. I think he is right. In the US, Human Geneticists are PhDs whereas Medical Geneticists are Physicians who have extensive clinical training. Yet, when genetics is taught in medical school (In year one and never again) it is invariably taught by Human Geneticists.
So why is this important? Brugada Syndrome is a condition that causes dysfunction in cardiac ion channels. This pathophysiology underlies the clinical manifestations of Brugada syndrome (cardiac channelopathy). In 10-30% of patients and families, mutations in the gene SCN5A, encoding the cardiac voltage-gated sodium channel Na1.5, have been reported. It causes deadly heart rhythms. Most people present with sudden death while sleeping or resting.
More importantly the disease often occurs in adults. Most likely in 30-50 year old men in a sex skewing of 8:1 penetrance. This doesn't mean women never get it. In fact they may have the mutation but never dies of sudden death. But here is the bigger issue.......why aren't geneticists seeing this condition? In rounds today, the other geneticists said "If this disease is 1 in 2000, why aren't we seeing it? That is way higher than NeuroFibromatosis or metabolic diseases!"
They are correct. Even Long QT syndrome which is 1 in 7000 is seen more often in cardiogenetics clinic. Long QT presents in childhood and sometime early adulthood.
I have the answer....... Brugada Syndrome presents as an adult condition. Most adult doctors don't even know genetics is a specialty, so why would they refer the patient? Heck, they do hemochromatosis testing for patients, so why not add this into their repertoire???
Here's why.....the gene can have several implications for family members and internal medicine doctors are notorious for the 1 patient 1 doctor philosophy.......
We aren't just testing the patient when we do a genetic test. We ARE testing the WHOLE family!
I find this crazy that these patients are a rare bird/Zebra in cardiogenetics clinic where they deal with genetic conditions and the heart. Why?
They are likely not being identified by anyone. Yet they are seen in 1 in 2000 people, much higher than some "Common MonoGenic Diseases"
What is even more funny is that at my residency program at a sleepy 190 bed hospital, I diagnosed 2 of these by EKG and identified 2 family members by testing. In ONE YEAR..........
In fact one of the cases had been identified as having a heart attack. The whole pathway to give this patient blood thinning medication had been started. But on EKG, the diagnosis was clear. the pathway was stopped and the patient was diagnosed. But I wonder how many times people like this get a cardiac cath. You see, the EKG finding can look like a heart attack can on EKG.....
After the rounds were over one geneticist commented that at least we would be able to build awareness at a grand rounds we were giving................In Pediatrics......
The Sherpa Says: We have to go and get out in the face of Internal Medicine Docs and tell them about this condition. The best place to see them is in Internal Medicine Grand Rounds and on the wards. So I tell Doctor Look and all my other IM brethren, go learn about this condition.....you may truly save a life......and THEN refer the patient to your friendly neighborhood geneticist! We are out there, just look for us.....
Posted by Steve Murphy MD at 10:29 AM
Monday, October 27, 2008
Dear Sherpa, I am an avid reader of your blog and quite often marveled by your great writing style.
Today, however, I cannot resist to add another point to your list:
The sherpa says and might be right in saying so:
"7. The lack of medical training for genetic counselors
8. The lack of genetics training for medical professionals "
Dr. Look (me) would humbly like to add:
9. The (frequent) lack of medical clinical experience/training for human geneticists
Keep up the good work
Regs Dr. Markus P. Look,
Internist Bonn, GERMANY
Thank you so much for your comments. I would like to add that the street runs several ways. We have several shortcomings. In the United States in order for a geneticist to train in Medical Genetics (which is a 2 year program), you must first have 2 years of clinical experience in an ACGME accredited residency in just about any field. Most medical geneticists are pediatricians. This is a natural extension as the majority of classical genetic diseases start in childhood. However, there are a little under 100 geneticists trained in Internal Medicine. Approximately 1 in 10......
So I may agree that most medical geneticists are not Internists, but there are many who at least rotated through IM in medical school and elder statesmen who are internists who grandfathered into pediatrics. Much more clinical exposure than new graduates of genetic counseling programs....
But I do agree.....as genetics changes from a small sub specialty of pediatrics into pediatrics becoming a small sub specialty of genetics...we will most indubitably need more IM geneticists!
Linked together into a network preferably......
That's why I am up here at Yale.....
The Sherpa Says: If you don't know about the 24th specialty in medicine, how would you ever know how to refer to them? Looks like the ACMG needs to hire 23andMe's PR firm!
Wednesday, October 22, 2008
The other day I was talking with Misha Angrist, who BTW is writing a book about this great adventure known as personalized medicine....... I had been telling him about how my views had been pissing off a lot of people. He said to me "You certainly have a skill for that" indicating that my proclivity for hyperbole was what could eventually put me under.....
I resort to hyperbole when I think something is so outrageous that I need to go crazy. That's why some have dubbed me the "Howard Stern of Genomics" (Thank you Jeff Gulcher for the monniker). I am still looking for my Stuttering John.....
But in all seriousness, I see some big problems with this ecosystem. I think the problems are on several fronts and we need to attack each one. Why? Each problem in itself is not a reason to go crazy, but when I see them all in the big picture.....I gets my goat. These problems are the proverbial 800 pound gorillas that the field just doesn't want to address unless it is pout out there against their will.....
Now can you see why I have mentioned problems with:
1. DTC genomics
2. Public genome exposure of uninformed participants
3. The woeful lack of genetic competence by doctors
4. The pi$$ poor reimbursement rate for services
5. Patent protected genetic tests
6. Silly CEOs not having a grasp in reality, or distorting it to promote/hype genomics
7. The lack of medical training for genetic counselors
8. The lack of genetics training for medical professionals
9. The horrible job of reporting genomics to the public
10. The lack of reputable VC/Investment firms willing to take a hit and invest in soically responsible genomics.
11. The fear of businesses upsetting their customers by speaking the truth....
So as you can see, I have had the chance to piss off just about all of the field.....and have done so in many ways.....
Do I do it for spite?
Do I do it because I dislike each and everyone of them?
Do I think they are doing good things?
Do I think we could do things better?
So if you are one of the myriad of people that are upset with what I have had to say......rather than get all mad and speak ill of me at cocktail parties or try to get my friends and coworkers upset with me or any other completely destructive things you are looking to do....
Ask yourself........."Is the Sherpa right?"
If I am not....then feel free to flame me.......
But if I am right, have the guts to admit it and go about changing our ecosystem.
Yes, I AM calling you out!
Posted by Steve Murphy MD at 8:53 AM
- Reviewed/Returned email from patient 15 minutes
- Phone call to Radiologist X who read film and reviewed with me 30 minutes
- Reviewed chart sent by PMDs office 60 minutes
- Literature review regarding disease X 20 minutes
- Phone conference with PMD re: differential diagnosis and plan 20 minutes
- Confirmed appointment with patient and discussed concerns 15 minutes
- Appointment with patient 80 minutes
- Total Hours 4 hours
- At 325$ per hour and 10% Professional Discount 1170 USD
What does insurance pay? 256 USD dollars, I hope you can see why the system is failing.........
Why in the world would any VC want to fund such a labor intensive service......Insurance sure as hell tries not to. Why do I say this? Because every single other professional in the US bills and gets paid this way but not the doctors.......in fact, for every person who pays for these services we could serve probably another 1 or 2 patients pro-bono.
So what happens when a patient wants a DTC test with a doctor interpretation?
Good question....I am not certain how one would bill for interpretation of a 1 million SNP scan. I guess you would have to take a family history and look for a diagnosis....Heck, if the patient walked in the door, you couldn't even bill for a 99245, you would have to bill for an in office evaluation which pays even less than the 256$.....
But here is the problem......most patients don't want to be hackers.....most patients want to speak with a doctor......preferably a doctor who knows what the test they just took means......
So I ask you.....Is it really greedy to ask for 1000 USD for an intake? Especially when billing insurance means you can't spend the time you would like on the case, or even worse, if you do spend that time today......will you be in business tomorrow???? A classic example.....DNA Direct charges 3456 for BRCA full sequencing, yet Myriad only charges 3120 dollars. Because they don't mark up their test, the 2 mandatory genetic ocunseling sessions at DNA Direct cost 356 USD.....if insurance paid for that it would be 120 USD.....No business can afford to use insurance to reimburse for Genetic Services........period! Interestingly Myriad cuts the cost for NIH research to 2500 USD..... So one really wonders what the test costs.....I know for sure what the manpower cost for evaluation is!
The Sherpa Says: To really get personalized healthcare we need to radically change how healthcare is funded. The paper pushing...the coding....the lack of pay......they all need to go away......or heck, maybe someone could just automate all of that crap and let us get back to caring for people, NOT ICD9's.......
Posted by Steve Murphy MD at 6:01 AM
Monday, October 20, 2008
Wojcicki: One of the areas we've talked a lot about is pharmacogenomics--being able to say, should you take ibuprofen? Or if you have a new baby and you're flying to Europe, should that child take Benadryl, or will it make them hyper?
Sunday, October 19, 2008
Wednesday, October 15, 2008
Today, I want to point out what Webicina is and why it is important. You may be asking yourselves....webicina? What the heck is that? and Why should I care....
Here's why. Just about everything in my professional life has gotten light years' better since I started blogging. Some notable achievements.....
1. Invited to participate on the Coriell Personalized Medicine Collaborative's ICOB
2. Invited to speak on a panel with Navigenics, 23andMe, deCode, DNADirect
3. Inivited again to speak on a panel with Linda Avey (this one for the second time)
4. Invited to speak to the National Society of Genetic Counselors about personal genomics
5. Working on a scientific collaboration with OSU (and many others) because of blogging
6. Interviewed by Karen Shughrue of 60 Minutes and the NYT and the LA Times and MSNBC and CBS.........
7. I met some great friends
8. I have been asked by 3 web health companies to help them create genomics resources
9. I have formed 2 companies because of blogging
10. I have learned to handle the masses of people who disagree with me in much better fashion
11. I have sparked a national debate when everyone was cheering something that was not quite of value.
I could go even further but I won't b/c I want to talk about how it all started.
There was this guy named Bertalan Mesko.
He saw that I started a lowly blog back in March of 2007. He stepped in and said, "Let me help you build your blog" First you have to get HON Coded, next you have to join a group, then you should do 1,2 and 3..........Why was this important?
You see, Berci (as his friends call him) was starting his company without even knowing it. What he did for me, he had most certainly done for dozens of other blogger....the fruits of his labor are now called Webicina!
What can Webicina offer you? exactly what it offered me.
Medicine 2.0 Packages
The tools and services of web 2.0 can facilitate the work for medical professionals and help patients as well. If you would like an even more efficient medical practice; more productive research, pharma team; or you would like to know web 2.0 sites focusing on your medical condition, Medicine 2.0 Personalized Packages are created for you.Medicine 2.0 Package is a personalized set of web 2.0 tools designed to solve your problems. If you would like to know which part of the web you should follow, which websites and services could be useful in your work, that is what Webicina can help you with.
Contact us for more details.
The world is at your fingertips. If you would like to know
how to follow the medical papers of your field of interest more easily
how to create a medical blog, how to be up-to-date in your field and more productive in your practice,Webicina's E-Learning Tools are made for you.
You tell us what your problems are with effectiveness and we provide the online materials and tutorials through which you can easily learn to use the tools and methods you need to improve your service or work.
Contact us for more details.
Building medical blogs and online reputationIt is crucial for a medical professional to have a well designed online image. Patients are more likely to search for the name of their doctors to find some information about them or their practices. And the information they find online should represent their pratice properly.A medical blog is a perfect tool for establishing an online presence.
A medical practice can be represented successfully through a reliable blog, profiles in the best medical community sites or an online résumé as well.
Contact us for more details.
Consulting and workshops
If you are about to launch a medical website or community, our consulting service can make you more successful by providing creative ideas and practical pieces of advice.If you would like your collegues or employees to know more about the possible implications of web 2.0 in your field of interest, Webicina can help you through in-person presentations, workshops or online webinars and Second Life meetings.
Contact us for more details.
It is pretty plain and simple. Berci (Webicina) launched the Gene Sherpa! There is no reason why they can't launch you too.......
The Sherpa Says:
Hopefully Webicina will collaborate with Helix Health of Connecticut of CT to create online educational conferences this coming year........
Tuesday, October 14, 2008
I am posting today away from home. In case you didn't know, my family is a BRCA family and a wonderful lady who was hit with not one but 2 breast cancers and metastases just passed.
I am sad today. But even with that, I am bolstered by the amount of work being done in this field. Soon we will have tests which can identify risk for non BRCA breast cancer. But that day is not today.
Why? I just finished looking over some more of the SNPs which deCode is testing for....
rs1219648 the SNP associated with FGFR2 and Breast Cancer. Published in the "Highly respected" Nature Genetics!!!
1. Populations-1142 European/Caucasian with postmenopausal breast cancer
2. Penetrance- unk, but OR was 1.23 and for Hmz 1.79
3. Function- unk, but could be a splice site variation.
4. Prevalence- Not reported here.
There was another study in Jewish (Ashkenazi and Sephardic) and Arab women......about time
Here's why it gets confusing. They cover these SNPs as a haplotype study. What's a haplotype? A subset of SNPs that are linked together. In this case, the AAGT haplotype and the AAAC haplotype. The wildtype is GGAC. You see it turns out in the AAAC haplotype puts Sephardic women at increased risk for breast cancer, but not Ashkenazi Jews. It actually reduces risk in the Ashkenazi population!!! Huh?
I hope you see what I am getting at.
"Each of the genetic markers in this risk test have been replicated in between 5 and 30 different populations in studies by deCODE genetics, the National Cancer Institute, and UK Cancer Research."
Dr Gulcher's words, not mine.
That is just not true. Some of these SNPs are protective in some and risk creating in others. That data has NOT been replicated in truth. But, if you mean replicated in the same study........then you could stretch that to maybe 5 populations. But when you say population, do you mean the few hundred women from the US Multi-Ethnic Cohort that was lumped in with the Swedes? This is the frustration I have and why I started HelixGene.
The days of silver tongued scientific shenanigans are over. I will personally read every study I can about each test and report turthfully and give clinical meaning to each study. I hope you will join me.
We have very few tools to assess risk properly in breast cancer care. But we should not put a tool in the chest which will not get the job done and that could result in improper guidance or significant medical misinformation. Clinical tools require much more refinement than one or 2 studies published in NEJM.
The Sherpa Says: Perlegen is also developing a breast cancer test. I hope they get the data before bringing a test to market. Here's a riddle, what does a broken watch and 2 of the SNPs from the deCode test have in common? Answer: They are both right, twice a day......
Posted by Steve Murphy MD at 10:51 AM
Monday, October 13, 2008
To attempt to sort out the hype from the hope, Sherpa Style. I will review each and every SNP that deCode is using for it's Breast Cancer Test. This weekend I will cover the first 2. But first some hype from both sides.
Friday, October 10, 2008
Posted by Steve Murphy MD at 2:14 PM
Wednesday, October 8, 2008
After about 50 emails, it became crystal clear. CGCs think I am bashing them when I point out their limited clinical training.
They also think I am bashing them when I point out that they should not be giving advice on medications that they do not know all the side effects or risks.
They also think I am bashing them by promoting the role of nurses in clinical genomics.
Wow! I never thought this would raise such chaos! I first would like to point out what Genetic Counselors are trained in. From the ABGC competencies.
An entry-level genetic counselor must demonstrate the practice-based competencies listed below to manage a genetic counseling case before, during, and after the clinic visit or session. Therefore, the didactic and clinical training components of a curriculum must support the development of competencies that are categorized into the following domains: Communication Skills; Critical-Thinking Skills; Interpersonal, Counseling, and Psychosocial Assessment Skills; and Professional Ethics and Values.
I highlight Communication skills because of what the ABGC demands.
From the site:
Can convey genetic, medical, and technical information including, but not limited to, diagnosis, etiology, natural history, prognosis, and treatment/management of genetic conditions and/or birth defects to clients with a variety of educational, socioeconomic, and ethnocultural backgrounds.The student is able to demonstrate knowledge of clinical genetics and relevant medical topics by effectively communicating this information in a given session.
What happens when that genetic condition is stroke? What about Left Main Coronary Disease? How about Inflammatory Bowel Disease? Coumadin metabolism???? There are a small cohort of counselors who know about these topics through workshops, or perhaps working with a doctor who studies these diseases....but that is a small few......like Karen Greendale. Who BTW is doing a wonderful job of getting this group together.
I hope you see what I am getting at.....most never trained for these things, but will soon be expected to handle this........BTW, this IS genomic medicine.
I just don't see how we rationally can expect someone who hasn't worked with coumadin or taking care of patients in a telemetry unit, to explain the workings of the heart or the cytochrome p450 system without some sort of medical clinician involved. It is just not fair or realistic.
This is not bashing your profession. It is pointing out the shortcomings of inappropriate utilization of manpower. Trust me. You will have more than enough work. But when it comes to these fields, I think a little more clinical training would help CGCs carry out Genomic Medicine counseling. Is that too much to ask?
I don't think so.
I want to remind all Genetic Counselors, you are part of the solution, not the problem. Yet, the comments and emails I received were reminiscent of the 100s of emails and comments from the Silly-Con Valley types when I said that they should have some sort of genetic counseling pre and post SNP scan and when the Government agreed with ME.......You are part of the solution CGCs, I never said you weren't. I just see your role evolving, and that evolution requires change.
Despite what Drew Y at ThinkGene says, you will not be programmed away. I have never seen Python code hand someone a tissue when they are crying, or comfort them with a caring voice.
Now some comments from my wonderful readers...
Yes, a CGC should have a year (or two) of clinical training. When I was shadowing a GC a couple of years ago, the doctor asked the GC if she had any thoughts for what genetic condition the patient may have. The GC said: "I don't have any idea." Some GC's will continue to learn at a much deeper level than other GC's.You couldn't have said it any better: "They don't even speak the clinical language very well. In order to take accurate medical and family histories, they need to know the genetic implications of sudden death, stroke, heart attack, coumadin metabolism, protonix efficacy, alzheimer disease, COPD, I could go on and on. But if they never saw it and talked about it, how could we ever ask them to learn this stuff through Osmosis or "Clinical Workshop"?????"
The way a CGC is trained needs to be adjusted
I agree completely
I am a CGC and I appreciate your honest and well-articulated comments on our limited clinical training. CGCs have some important skills that most physicians do not. Our professional organization (http://www.nsgc.org/) defines our scope of practice very nicely, recognizing these limitations. However, CGCs are not licensed providers in most states, nor are we recognized as allied providers by CMS.
This means that our scope of practice is not regulated or even on the radar of a regulatory body. So, what happens in practice is that the role of the CGC in a given case is determined by the physician s/he works with (usually medical geneticists). The physician is in the position of being the CGC's boss, the lines are muddied, and the role of the CGC is at the whim of the MD.
This is a terrible position for the only workforce that right now DOES have the genetics knowledge to provide to patients in the age of genomic medicine.
Our scope of practice needs to be better embraced by the health care system, with our role being one of providing risk assessment, genetic testing options and educators of patients and providers. Most CGCs feel very uncomfortable discussing management, but are put in that position by geneticists who frankly rarely manage
Thanks for the comment
I agree, clinical geneticists need to stop getting on conference calls for grants or in the lab, and get their asses into the clinics and on the floors. They have failed all CGCs out there. You could have used their clinical education!
Gosh, I find it awful ironic that you BASH genetic counselors so harshly on your blog, yet have them listed on your “Helix Health of Connecticut” website in the very first sentence about the healthcare team. Do you really think that your silly attempt at an apology to your “excellent CGC colleagues” will be sufficient? And gee, while we’re talking about “clinical ineptness”, I thought I should also throw out the fact that you specifically list services such as “preconception genetic evaluation” but I see no one on your team with an obstetrics background. (Haven't updated the site yet)
I guess having someone with that type of “clinical training” wouldn’t be necessary since you’re just helping a couple plan for a PREGNANCY.
Luckily, it seems as though the only patients that are going to be able to seek your great “expertise” are the few economically elite. For the rest of the population, we’re going to have to settle for consultations with all those well-educated, compassionate, hard-working genetic counselors out there.
No one said you weren't educated or hard working. I just think you shouldn't be forced to practice medicine because no physician will work with you......simply due to the fact they have grant deadlines.....As for our fee for service practices. We do this to keep our doors open, rather than have physicians who refuse to see patients and instead put the CGCs out on an island to either bill for 60 dollars per visit or commit insurance fraud.
I repeat. Genetic counselors are a valued part of the "team". I pejoratively put out there that there wouldn't be room for you.......If you continue educating counselors the way that you have always done it this could push you away from pharmacogenomics or chronic adult disease and personlaized medicine. Listen, the same is true for pediatric geneticists. The same is also true for non-genetically educated internists......
We have to get a grip on what we can and cannot do without some sort of formal education.....because if we don't, then we will have CGCs giving bad advice about medications or adult diseases.........or Internists misinterpreting genetic tests. Can't you see that it is just as bad????
The Sherpa Says: There will always be a great role for counselors. But unless they start learning the fields most affected by personalized medicine, they will find themselves forced to do things they aren't prepared to. We have to fix the broken genetics system AND the broken medical system. Because if we don't, a whole heap of people like Drew Y will point to our flaws and try to write code to "fix" us!!
Posted by Steve Murphy MD at 3:35 AM