Monday, February 23, 2009

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.......


Anonymous said...

Why is the salary for clinical geneticist, which typically ranges from $70,941 to $124,461 so low? I can see why people do not want to become a clinical geneticist.

Steve Murphy MD said...

The salary is reflective of the fact that there are a lot of pediatricians in the field. Their salaries are typical to the clinical geneticist.

That's why I am an Internist......

But yes, that is a horrible way to attract the best and brightest into a field.....Especially when the internist gets paid 120-200k and we still can't get them into Primary Care.....


Red Herring said...

See the SACGHS Report on Coverage and Reimbursement. Cognitive medicine is undervalued and procedures, including genetic tests and the prescription of pharmaceuticals, is literally the coin of the realm. In addition CMS by statute is unable to set reimbursement coverage for "preventive" services, which genetic counseling is often construed to exemplify. If just plain folks valued a family history as much as they valued Botox, then the problem would smooth itself out. [That pun ought to make you wrinkle your brow!] BTW, the average pediatrician makes more than this salary range. Also, it may serve the long term better to characterize clinical geneticists as just that, without qualifications of their primary care orientation, since BC Geneticists have fought so hard to proudly count Medical Genetics as an independent member of the American Board of medical Specialties.

Red Herring said...

Oh, yes. I agree with your critique of 23andMe entirely. It's a shining example of practicing medicine without a license and armed guards should affix massive padlocks to the front doors immediately while they await trial.

Anonymous said...

Wouldn't it be smarter to become double board certified in internal medicine/medical genetics? That way you work in internal medicine and still see patients with genetic problems?

Wouldn't pediatrics/genetics be another smart combination?

If a person gets a really high Step 1 score (combined with good grades and evaluations during the clinical rotations) should a person try to match for a specialty that pays a lot ophthalmology?

Red Herring said...

Anon -

Red is a big supporter of board certification. Competence trumps bling. I would encourage you to pursue both - but primary care should be your first priority. Kurt Hirshorn has quipped, though, that all medical disciplines are ultimately subspecialties of Genetics.

We sure need ophthalmologists who are excellent geneticists. But genetics has been, to date, the last of the old school specialties - no one does it unless they consider it a calling with rewards are are not reflected on your 1040. We are waiting for the Sherpa to show us the master key to the Sultan's treasures.

Vincent said...

Steve, you still don't get it. You wrote:

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......

In reality, you have it completely backwards.

The argument is that what genetic counselors do IS the practice of healthcare/medicine and that what 23andMe does is NOT the practice of healthcare/medicine.

In other words, genetic counseling IS clinical medicine.

23andMe is not conducting genetic counseling nor clinical medicine.

Other than that, nice post.


Anonymous said...

Red, this is N/A (the anonymous poster posting about the salary info), not Anon. I don't have any problem with earning 100,000 dollars a year. I just want to earn enough to buy a house, purchase a car that actually has heat that works, pay back my student loans, etc. So 100,000 dollar a year should be enough in most locations in this country.

I've been working towards a career in genetics for just over six years now (starting college, graduating, and trying to decide on the "right" career path...I could have easily applied to be a GC last year as a senior in college, but I didn't submit that application as I had some serious concerns about the limitations that a GC has...those limitations is what burned me inside for not becoming a GC). I always thought about becoming a clinical geneticist (I have 200 hours of shadowing a CG) and I'm now working on taking the MCAT and applying to medical school in two years. The problem is that there is not enough patient population (demand) in all areas of this country that need genetic services for a person to work full-time. So that is why I was asking about being double boarded in internal medicine/medical genetics (doing one of the combined programs) and having a private practice (or offices in locations in rural areas of whatever state I would work in) to provide genetic services to those people that would be in need.

When I was doing the shadowing I noitced many things that took up too much time because both the GC and CG were doing the same thing (both asking about patient history for a complete family tree, both talking about psycho issues, etc). What really should be done is scheduling patients based on their chief complaint. I'm sure some patients could be seen by the doctor in about 10 minutes of time and the GC in about 15 minutes of time. I can see a longer need for a doctor visit for diagnosing a genetic condition with the physical needs to be done.

I'm going to be meeting with a genetics doctor in another city from where I work to talk about how a doctor could organize offices around a state while also working full-time in the clinic.

It would be awesome if Steven is able to get the internal medicine/medical genetics training program started by the time I would get to that path so I could learn under him.

Steve Murphy MD said...

@ RED,
You are correct a medical geneticist is its own specialty. The 24th to be precise. My favorite number....

BUT, not all medical geneticists have the same knowledge bases.

I wouldn't be certain that a pediatric geneticist would feel comfortable dosing plavix or explaining LAD disease.

The same for internal medicine geneticists in explaining anticipatory guidance for a 2 year old. Or eve better, understanding rashes or explaining congenital heart disease.

The same for OB/GYN geneticists and other geneticists.....

Which means each geneticist has their own niche. But my blog is about personalized medicine, which right now maily is affecting adult (Internal Medicine) disease. Some geneticists did an IM internship, but did they actually keep up the IM skills? Probably not. That's the reason I try to subclassify, to determine who can do what and to understand the shortcomings.

This helps me project what we will need in the future.

thanks for pointing it out.

Steve Murphy MD said...

@ Red,
If they don't pay cognitive services, then they will cease getting cognitive medicine....

Plain and simple,

Steve Murphy MD said...

@ Anonymous,
If you want money, then genetics is not for you. Derm and Anesthesia are. If you want an interesting career, genetics and medicine are for you.


Steve Murphy MD said...

@ Red,
Kurt did in fact teach me the same thing while I was at Mount Sinai.....

Snart guy that Kurt.....

p.s. Give me some time with that Key, I am working on it.

Steve Murphy MD said...

Thanks. But, 23andME is reporting the same thing a genetic counselor would. Remember, Genetic Counselors are guided to NOT give directive advice. Because they like 23andMe are not licensed. Which is a shame, because Counselors SHOULD be licensed and so should 23andME.


Steve Murphy MD said...

Thanks N/A.


Anonymous said...

No problem Steve. I can tell you know your stuff. I'm not as much interested in treating adults with genetic conditions (or personalized medicine) as I am with the youth (newborns to adulthood). I would prefer to diagnose, consult, and develop treatment plans for metabolic these patients can still live a healthy life if treatment is started early and followed. I'm also interested in working with college athletes--testing them for risks for sudden cardiac death (studies have shown that most athletes that die from sudden cardiac death are of familial form). So the only concern I have with the salary at the end is making enough to pay for everything---which being a CG should be fine.

At the end of our life, when we are no longer working, we can't take the money in our back account to the grave with us. Therefore, what impact did you have on society so the people behind you can live a better life? I feel that by being a CG I can make some major impacts on the health of society (developing personalized medicine treatment plans (personalized genomic scans) for all newborns in a community/state, and similar projects--similar to the wisconsin genomics initiative).

I will leave it up to the optha doctors, pathologists, surgeons, etc, to deal with other health problems.

Vincent said...

Steve, you said:

But, 23andME is reporting the same thing a genetic counselor would. Remember, Genetic Counselors are guided to NOT give directive advice. Because they like 23andMe are not licensed. Which is a shame, because Counselors SHOULD be licensed and so should 23andME.

I want to make sure I understand you.

Are you now saying you agree that what 23andMe is doing does not fall into the category of "clinical medicine" as we CURRENTLY know it but that you want the definition (specifically, the legal definition) changed to include what 23andMe is doing?

In other words, you agree that what they are doing is not currently illegal but that you want to change the law to MAKE it illegal?

Because that's what it sounds like, and that's not the vibe I got from your earlier posts at all.


Anonymous said...

The very second that 23andMe and says in a report, "you are a carrier of (...)" needs to be taken to court in a split second.


Steve Murphy MD said...

@ Vincent
Thanks. But, 23andME is reporting the same thing a genetic counselor would. Remember, Genetic Counselors are guided to NOT give directive advice. Because they like 23andMe are not licensed. Which is a shame, because Counselors SHOULD be licensed and so should 23andME."

Licensed, not "Not practicing Medicine"....big difference. They are practicing clnical genetics. Bt unlike counselors, 23andMe is not supervised by a physician.