23andME-"Genetic Counseling isn't Clinical Medicine"

Thanks to an amazing string of commentary on my blog, I think I get it.

Most of the 23andME users don't understand clinically what they are getting. It turns out, what they are getting is in essence unsupervised genetic counseling.

Vincent a commenter notes from my previous set of comments:

"In their actual report to customers, though, their language is much more sane.

E.g.Carrier for the 6174delT BRCA2 mutation.

Lifetime risk of breast cancer for women is increased from 13% to 85% and risk of ovarian cancer is increased from less than 2% to 23%.

May significantly increase risk of prostate cancer in men. There is also an increased risk for breast cancer in men.

That an accurate (as best as I can tell) statement of fact, and one that does not cross the line into the area of clinical diagnosis."

I then clue him into something he may not get and in fact I didn't get it until we talked about it.

SHERPA-"What you said is in their report is EXACTLY what a genetic counselor would tell their patient......."

Which prompts a reasonable conclusion by Vincent, which is absolutely incorrect. Why? Because we assume genetic counselors are autonomous units.

VINCENT-"A doctor or genetic counselor would take the conversation much further, however, and that is the key point I think. A licensed practitioner has the ability and obligation to go far beyond the purely statistical and into the truly clinical. Family history, behavioral factors, prevention options, treatment options, and so forth.

A company like 23andMe does not have that obligation, and it seems like that is part of what drives you bonkers."

He nailed it without realizing he did. When 23andME presents you this information in such a fashion, they are providing exactly how a genetic counselor would. They are probably painstakingly creating reports that are word for word what genetic counselors would deliver.

In addition, he double nails it. 23andME is providing genetic counseling while abdicating any of the clinical responsibility of putting that information out there. This is especially troublesome with highly penetrant tests, such as BRCA.

He triple nailed it by describing the argument 23andME will likely use

Our reports look like Genetic Counseling, But that's NOT Clinical Medicine/Genetics

I saw this attitude when I sat at a roundtable with Ryan Phelan of DNA Direct, Jeff Gulcher of deCode, Dietrich Stephan of Navigenics and Joanna Mountain of 23andME in San Francisco last June.

When asked "What if this genetic information changes? Who is responsible to notify customers/patients of this change?" What erupted was a slew of finger pointing at the table and Ryan Phelan saying "It would be nearly impossible to ask us to recontact customers with that change in information (rough quote)" Dietrich said "We have a subscription service that you pay for to get those updates" Mountain and Gulcher were silent.

But I grabbed the mic and said "If a physician orders a test and the results change, that physician is legally and morally obligated to report that change to you, at no cost and for the rest of the time that patient is under your care"

That is responsibilty. When I say there is a fundamental lack of willingness to accept this accountability at the highest levels, I mean it. I have seen what they have had to say, and they are left lacking.

Some may say, well 23andME is not practicing medicine. But I tell you, what they are delivering smells, looks and feels an awful lot like what any genetic counselor in any town in the United States, UNDER PHYSICIAN SUPERVISION, would be providing to PATIENTS who underwent BRCA testing.

So genetic counselors, if I haven't alienated you and you are still reading the Sherpa......Beware, 23andME is looking to replace you with reports. In addition, they are arguing that what you do isn't technically the practice of healthcare/medicine......

If you let them get away with this argument

1) Their will be a legal precedent which may ruin any argument your group has to be licensed

2) They will erode the patient trust bond with your patients

3) They will unltimately replace you and a physician will be using this service instead of consulting you.

This ball is now in NSGC's court. I hope you can do something about this, before it's too late.

The Sherpa Says: 23andMe's response "Yes our reports look like genetic counseling, but that's not clinical medicine......." Ouch.......

Harsh on All Fronts!

I am often accused of being overly critical....whether it is of the Genetic Counselors, or the Physicians, or maybe the Scientists. I am definitely critical of DTC and even more so of the Medical Geneticists....

In fact, I praise each of these groups at such a low rate, that many think I am looking to isolate myself from the entire field.....I am not. I just point out problems in our backyards so that we can clean them up.....

I was told the other day by a senior Geneticist that what I had done to the Genetic Counselors had then questioning their roles. I had thrown academic genetic departments up in arms, trying to now figure out how to bill legally for what they are doing....

Is that such a bad thing? To make people accountable for what they do.....to help motivate them to lobby extra hard to get paid what they should. Rather than break the law and just exist?

I strategically pick issues and attack them. I know that it upsets most who read this blog when they hear shortcomings in their own fields.

The pediatric geneticist who gets mad because I say they don't know what Plavix is.....

The DTC company who I say is "playing doctor" without any of the liability.....

The PhD Geneticist who says that I devalue what they do......I don't I just think we need not hype every little discovery....

My point is not to keep picking on us.....it is to help motivate us towards change.....

So I now will give you a rare Atta Boy.

1.) DTC, thank you for putting genetics into the public eye. Your millions of dollars spent on PR has helped raise awareness of genetics. Misdirected as you may be, the public is now aware that we can do genetic tests.....

2.) Human Geneticists, thank you for your tireless hours of work to discover new genes and new functions. We would have nothing without you. I can understand why you are so proud of your work and why it often comes across over zealously in the news....Thank you for your efforts,

3.) Genetic Counselors, thank you for working so hard to keep our field alive. When geneticists abandoned cancer genetics and you picked up the torch we needed you most. You have kept us true to genetic principles and spoke out against great atrocities. In addition, you spoke against false advertising.......Thank you

4.) Adult Physicians, you have felt the burden of my wrath most......but guess what, you have done the greatest thing of all, you have carried on the traditions of medicine and kept primary care alive this long....Without your work we wouldn't even have a thought of Personalized Medicine. Working long hours for continuous pay cuts by insurers, you have fought to keep patients cared for. How could you have the time to learn genetics?

5.) Medical Geneticists, thank you for caring for patients with monogenic diseases, studying new ways to investigate and care for them. To the small batch of you teaching adult doctors genetics, thank you. To those teaching medical students, thank you. We need you now more than ever.

The Sherpa Says: Now don't let that get to your head, we have a lot of climbing to do, so eat a big breakfast and let's get going!

Gate Keepers for Genetic Information

A recent set of comments came to me from a Genetic Counselor. They were well thought out, but I think she may have misinterpreted me...

I pray that your attitude changes before you have a practice of your own and I pray for the genetic counselors at Yale who have to work with now, knowing that you think they are unnecessary and undeserving of respect.

This was said in response to my asking that if someone is billed a code 99245 that a person should be seen by a physician or at least someone who could perform a physical exam. Billing without the physical exam is more disrespectful and illegal than I was in the prior post... Unfortunately, that post was taken as if I think genetic counselors don't matter. In fact the reader further went on to feel as if I wanted to replace the whole field.

"What you are proposing will actually hurt patients, the medical system and the personalized medicine effort altogether."

I actually am not proposing to replace genetic counselors. The 2000 or so are an absolutely needed resource for counseling. The problem is that most counselors are specialized in the classical fields of genetics: Prenatal, Cancer predisposition, Metabolic and Clinical Genetics (Syndromes and Autism)......there are several hurdles for personalized medicine to be implemented, including manpower, and the already busy with long wait list genetic counseling services would be swamped with personalized medicine issues if we were to use them.....The same could be said for the 100 Internal Medicine Geneticists or the 700 or so other MD Geneticists......I see the experts of classical genetics as instrumental...but not as trying to churn through 1000s of patients evaluating drug metabolism. This is especially true in the underserved.

Their expertise really lies in expert systems that busy clinicians.....over 800k doctors in the country.......could consult in real time.....Yes, the classically trained counselors and geneticists will always be needed to see NF, Metabolic Disease, cardiogenetics, Prenatal issues, developmental delay, etc.......but the dual trained Internists Geneticist could be suited seeing pharmacogenomics, adult onset multifactorial disease, etc.......Even if they do, that is 100 or so doctors versus 800,000......

What should be done in the case of counselors and geneticists is in the realm of expert systems and teaching.....rather than take a year or 2 out of your schedule to learn internal medicine, neurology, etc. you could.....

1. Work hand in hand with a provider in a specialty and providing your expertise. This model was shown in Scotland to be very effective, until the CGC left the practice. Then things kinda fell off.

2. Create expert networks that busy clinicians can consult with in real time....thus leveraging your capabilities.....Just like the pioneer Heather Shappell has done.....

3. Go back to school and learn internal medicine, neurology, etc, which you could be doing in option one in real time......

4. Beg that the code for genetic counseling gets paid more, complain when it doesn't, and don't do anything to advance the personalized medicine ball. Which is a silly thing because 2000 genetic counselors will be overwhelmed doing the day to day counseling for Factor V Leiden, Hemochromatosis, and pharmacogenomics for 300 million people....I agree, you should get paid by the hour, just like physicians should, but we have been begging for increased reimbursement and look where that has gotten us...

It is not a viable strategy for long term success....Increased pay is needed for sure, but that is not a solution for the manpower issue. 2 years to be a CGC, 9 years to be an MD geneticist....neither is that attractive right now....You could teach a man how to fish and feed millions in the matter of a few months...Why not do that rather than keep it amongst the "Special Interest Group"?

Like DTC I do see that the small part of the medical field holding this information, even away from other practitioners.....which is dead wrong....

Oh and the last thing from the email I received

"Therefore, please use your time and energy wisely, advocate for genetic counselors. They are the gatekeepers to responsible genetic information."

The Sherpa Says:

Genetic counselors are very much needed. However, so are NPs and PAs and PMDs......We are all part of the solution and trying to maintain gatekeeper status when there is a tsunami of applicable genomic healthcare information is coming down the pike is not smart for such a small group of healtcare providers. The ecosystem needs to change and it can, but Geneticists and Counselors need to get out there and TEACH the NP, PA and MD without fear of not having a job after they do the teaching.......If you don't do the teaching......Slick Marketers with huge budgets will.....and that would be a loss to the entire healthcare system....

Francis Agrees with the Kid!

First, Hat Tip to Mr Weber, a longtime reader of my blog. Thanks to him for bringing this to my attention.

Do you remember how I said that genetic counselors lack the clinical training to integrate services such as pharmacogenomics and cardiogenetics?

Nearly got my disinvited from NSGC's Christmas Party

Well, I also said that the slack could be filled by Physician's Assistants and Nurse Practitioners. Which probably only fired up the NSGC more.....

It turns out someone......Francis Collins agrees with me.

In the spring (Yes I missed this) NHGRI hosted “Physician Assistant Competencies for Genomic Medicine: Where We Are Today and How to Prepare for the Future.”

Collins and the other speakers noted the emphasis in PA training on patient education and taking family histories and PAs' ability to spend the time with patients needed to obtain a detailed family history.

"The current system puts physicians in a difficult position," Collins said. "There's too much emphasis on procedures, and not enough on personal interaction. Therefore, the heavy lifting will have to be done by PAs and nurse practitioners." He described the PA profession as a possible "fulcrum" for the integration of genomics into health care.

So Mike, if you read this....give me a call. Sorry I missed yours......

The Sherpa Says: We need PAs and NPs to do the heavy lifting in obtaining family histories and helping to carry out genomic medicine. Why? Most CGCs wouldn't get that a poor reaction to wellbutrin could be due to a cytochrome p450 2D6 polymorpism. Or that a Reynold's Risk score is altered when identifying family members with heart attacks.....They could learn, but it would likely take another 2 years of training an already overburdened field......

The Genetic Counselor

Thanks to Bertalan over at Science Roll for pointing out a new blog/website called Genetics Counselor. This website has some interesting YouTube videos on it today. I tried to access the "blog" but was forbidden. I have to caution you all......Do not trust health care info unless the website is at least HONcode certified. I have no clue who writes for this site, their credentials, or their aims. That being said, the issues brought up in the video are REAL. I am most opposed to DTC because of these precise problems, including the lack of human contact while "phone" counseling. Another issue is the difference between counselors and geneticists.

The genetic counselor is different than the Geneticist is several ways.

1. Geneticists have Medical Doctorate, Genetic counselors have an MS usually in a genetic field.
2. Geneticists have taken pharmacology, microbiology, human anatomy, histology, pathology and several other medical school courses that counselors have not.
3. Genetic counselors counsel patients but can order tests and give health care guidance ONLY under the care of a physician. (sometimes reasonably so, sometimes not)
4. Counselors have a log book of 50 cases seen. To sit as a Geneticist you have 150 cases, 2 years of residency (at minimum) and 2 years of Genetics Fellowship (At minimum)
5. Neither field is BETTER. We are just DIFFERENT from each other.

The Gene Sherpa Says: There are great counselors out there and there are also some bad ones please ask to also speak with the geneticist or physician if you feel uncomfortable with the counselor. Personally, I have the best Genomic Counselor in the world working with me. She is brilliant, talented and looking to move Personalized Medicine to the public.