99 USD, DNA day and patient letters

Yes,

What a great DNA Day!

Today started with my twitter feed notifying me that 23andMe had dropped their prices to 99 USD today. Which almost had me encouraging people to get testing, until I remembered that 23andSerge would then have your DNA..........FOREVER!

Then I opened my email and read this great note

"Dear Dr. Murphy,

Thank you so very much. I am so lucky to have found your team. Who would have thought my Plavix might not be working for me? Only when you told me about how it could not work did I realize that I might be taking something that is worthless. Thanks for testing me. Now that I am on Effient I feel much safer!

Thank you Dr. Murphy,

You saved my life!"

That's right. A genetic test, may have saved this patient from a heart attack. A genetic test I do regularly. Who has this patient's test result? Not some corporation that will use it for profit. No, just me, who will use it to act medically. While as these other services say explicitly, YOU CANNOT USE IT FOR MEDICINE!!

To be certain, you should not stop your Plavix WITHOUT talking to your doctor first!

Shame on them, their test could save a life. But not according to their TOS.

I will be speaking at the Consumer Genetic Show about precisely this problem and others. I was so surprised that they asked me to speak. Especially after the beating I gave it last year.

But on this DNA Day I am here to tell you, the public is aware now. DNA testing does hold promise, but only when in the right hands.........

The Sherpa Says: Pharmacogenomic testing IS MEDICINE. It is NOT FOR $H!T$ AND GIGGLES! Happy DNA Day!

Let's Just Say.....

I, Steven Murphy MD, am for Genomic Medicine, I am for patient empowerment, I am for the revolution known as patient centered genomic healthcare. I did not delight in the governmental actions, I did not enjoy watching the smack down. I was happy with the fact that my estimates were right. I was happy that the Sherpa "called this one". I was also happy that the public may now begin to start trusting these tests. But don't ever say I was happy about governmental regulations.......I am not for any added regs. It just doesn't make any sense to add what is already there. Unless you are talking about enhanced protection from discrimination.

I did some thinking over the weekend and even watched the Sunday Morning Shows including CBS. They put together a nice review of the changing face in West Texas. That face is the change from old oil to wind power. They even pointed me towards a movie. "Giant" with Liz Taylor and Rock Hudson. It is described as:

Ambitious Texas-style scale epic that traces the rising and falling fortunes of two generations of Texans. Miscegenation, moral dissipation, racism, the oppression of women....a variety of topics are brought forth during the film's 201-minute running time. The core of the film is actually the relationship between Bick Benedict and his wife Leslie. It is through them that we follow the film's themes of generation, conflict and social change.

The crux.....other than the racism and other garbage....... It is a film of a family feud between the Old Guard and the New Guard

Sound familiar??

The movie portrays how the oil industry transformed the Texas ranchers into the super rich of their generation. Maybe the genome era will do the same for the Technology Guys in the Valley?

So with that warning in my head....I decided to let this one play out.

Let's just say the market (Which BTW is barely 5% of affluents) can get unfettered access to their data/genome(not a genome yet) and "Non-Medical" interpretation. What do they do with it?

1. Hold it up like a trophy. See KNOME and the NYT.

2. Act on the unvalidated data or data that may not apply to their ethnicity. Like the 9p21.3 test for heart disease...if you are African, you can forget about that applying to you.

3. Feel better with the false hope that they are at low risk for breast cancer, despite having had it in the past (Seriously, we have a patient like this)

4. Feel that they beat "the Man" and that the government can't regulate their Genome

5. Not act on some unsubstantiated "risk lowering" variant....most of these are unreplicated studies...thereby increasing their risk.

There are many other options, I am certain....But these seem most likely in my estimate. Especially give the Dearth of the studies. Trust me, we spent a ton of time at the ICOB meeting in Philadelphia debating the clinical utility of some very important and validated SNPs, like FGFR2 (hours). Where even if you have the risk.........there is nothing you can do to reduce it. The same seems to be true for 9p21.3, it's risk is independent of LDL, CRP, BP, or other usual treatable risk factors......So what is an early adopter to do?

Let's say they then get the data, they then act or don't act.....What happens when there is some new data?

1. A DTC company says "It is not reasonable or possible to follow up with those they tested". This actually happened in San Francisco, I heard it with my own ears!

2. Another DTC company says..."We have a subscription service."

3. Another DTC company says "We're workin on it"

4. The physician says, "If I would have ordered it, it would be my legal responsibility to follow up on changes on the results with you"..........A very small few would continue with "But since you chose to do DTC, I can't help you"......Unlike those, we at Helix Health of Connecticut and most responsible physicians do help those DTC patients.

5. You Google it and try to interpret Affy 6.0, SNP, indel, use SNPedia, try to understand CNV, epigenetics...I could go on and on here......Only a select few would be able to do that. Assuming the data found is accurate. We all know that sometimes that is not the case...

Let's say you then manage to get your updates.....What do you do then?

Two scenarios

1. Actionable data

a. Go see a physician/healthcare practitioner

b. Go see a genetic counselor

c. Ignore the advice

d. Can't find a healthcare practitioner that can understand SNPs or genes for that matter.

2. Non-actionable data

a. Try to act on it, like the case of FGFR2, resulting in self pay for extra mammography, which actually may be harmful to you. In which case a physician may not order the testing you want. Which leaves you paying out of pocket for an unnecessary test. Which may be harmful.

b. Don't act on it and wait for more updates....which brings you back to the prior sections.

In the end....I will assume all roads lead to "To see a physician or Not" Which makes me believe that the sooner you involve a physician in the process the better. Why? Because they will be bound to follow up with you, bound to inform you about the limitations and risks of each test, bound to examine you, bound to manage your modifiable risks...etc. etc.

This is why the Burrill and Company poll didn't surprise me.....Why do this through someone who isn't bound by anything? Because you don't want to be regulated through a gate-keeper?? Or because the day when testing could be done through spit rather than a blood draw you saw it as an opportunity to free yourselves from the bondage of healthcare?

Before taking these tests, one should ask...."Who will follow up with me?" If the answer is "Me" The next question must be "Do I feel knowledgeable enough to interpret the studies and do that?" If your answer is "Yes"....you probably have already had your SNP scan.....and you shouldn't complain about the enforcement of CURRENT state and federal laws.

The Sherpa Says:

I just think this makes common sense. Maybe I am wrong and hindering progress? I doubt it. I am actually preparing to make Genomic Medicine available nationally, so the arguments are foolish. It looks like the public agrees....now it is just a matter of watching the government do what it intends to.

BRCA Webcast Sherpas Repost

I vowed I would never post when family took precedence. I have to break that vow again today. I wish I didn't but there is something so vitally important that I must share with you. Why is this important? Because it might save more lives than have been previously lost.

The scourge of Ovarian and Breast cancer has ravaged several populations. With very few cases of early detection in Ovarian cancer, many women present with spread of the cancer and very poor prognosis. Even more importantly, women who have ovarian cancer and BRCA mutations still are at risk for other cancers including breast cancer. Despite this I have heard comments from Oncologists like "Why do we need testing?" This is why I have pulled myself away from my grief stricken family.

To fight this lack of knowledge I have dedicated and arm of Helix Health of Connecticut to educate and promote genomic medicine. This arm will host at minimum monthly podcasts on very important topics. The first of these is Hereditary Breast and Ovarian Cancers and the BRCA genes. The panel will include a patient with BRCA1. She not only happens to be afflicted, she has written about her experiences. Jessica is gifted with the pen and is a very successful writer. Her book "Pretty is What Changes" raises significant issues and serves as a wake up call to clinicians and patients. It serves to empower us all.

Jessica will join David Ewing Duncan, bestselling author of Masterminds: Genius, DNA and the Quest to Rewrite Life, and a panel of distinguished medical and legal professionals to discuss how the doctor-patient relationship is changing and what the potential liability is for physicians in this new era of breast & ovarian cancer and genomic medicine.

The Sherpa Says: The Helix Health of Connecticut webcast series is dedicated to my grandmother who died at 35 years of age from metastatic breast cancer. Too young for me to ever know. Please sign up for this conference. The information may just save a life......If Helix Health of Connecticut can save just one life then all the hard work is worth it. Please sign up now. Seats are limited, but you can also sign up for the podcast.

Genetic Over-regulation? Simple Answer.

Why all the worry over regulations?

I was washing the dishes this morning when it finally hit me. With all of this concern coming from Washington D.C. and all the entrepreneurs (like myself) pushing something to market for "brand recognition" i.e. the Mayo or Coca Cola....face it....there is a Branding Element. Well, while we are now moving through MBA or MD 101 what hit was the answer....

You may be asking yourself "What is the question?" But I am here to tell you that the question doesn't matter as much as the answer does. But if you must know....the question is "What is disease?" We have all these people talking about the wellness industry, but we have to be serious with ourselves. There are a whole lot of well people walking around with LDL's that are over 160 (BTW that is pretty high). But if they never get tested for LDL, they never have a diagnosis.

So, I ask you. "What is disease?"

From Webster's

1: obsolete : trouble

2: a condition of the living animal or plant body or of one of its parts that impairs normal functioning and is typically manifested by distinguishing signs and symptoms : sickness, malady

3: a harmful development (as in a social institution)

So what really is disease....Well to break it down it is "Dis" (Lack,Not, Away) "Ease" (Ease). So this basically says that anything which confers a lack/dearth of ease could be disease.

I think this definition is DEAD! The concept was created PRIOR to molecular diagnoses.

I read just about everything that Ralph Snyderman writes. Who is Ralph Snyderman? Ask Misha.

Seriously, he came out with an idea which I think is absolutely brilliant. It is called Prospective Healthcare. Not personalized, not genomic.....ProSpective. Why? Because we will be able to diagnose disease at earlier and earlier stages. His graph is even lifted and put in the WebMD/Navigenics CME course....which BTW is five pages and five questions. Not exactly a whole course line. So if you are looking for a "curriculum" Navigenics. Give me a call and I can help you out.

I have lifted a subset of his graph and put it as the pic for today.

I know, I know but I need to bring this full circle so bear with me ok?

Dr Snyderman has stated that

Today, most health-care expenditure is focused on the later stages of this process, long after the development of many underlying pathological changes. Until recently, it could be argued that the focus on treating disease was justified because the ability to predict, track, and prevent its onset was not technically feasible. This is no longer the case, and the emerging sciences of genomics, proteomics, metabolomics, medical technologies and informatics are revolutionizing the capability to predict events and enable intervention before damage occurs. Personalized risk prediction and strategic health-care planning will facilitate a new form of care, which we have called 'prospective health care' [1].

You gotta love it!

So he says tomato I say "Tomatoe". Either way you slice it. It is what it is. But here's what it means. "Is preclinical disease, disease? Can you diagnose it? Can you treat it?" The answer in some instances is unequivocally YES. This is the case for impaired glucose tolerance.....prehypertension....So I ask you "Can you treat BRCA carriers?" YES. Is it a disease? It has an ICD9 code(V84.01). And it does determine certain insurance coverage, such as breast MRIs.

Well....

Do you see where I am getting? Everyone is up in arms over Over-Regulation(get it?). I think the answer is simple. If your test indicates a predisease condition that "May occur", then you my friend are diagnosing the "New Disease" named predisease. Therefore, you are practicing medicine. So the litmus test and answer is this. If your test does what I have just stated, it should be subjected to the same regulations as the practice of medicine. If it does not, then it should be stated PLAINLY, not at the bottom of a report in teeny weeny writing. I.E. this test has nothing to do with you "Health"........

There...back to the dishes...

The Sherpa Says:

So is it really over-regulation? Or is it just calling some corporate genomic tests "The Practice of Medicine". Which brings up an even more interesting point. Why would anyone want "health related genetic tests" if they Weren't diagnosing a Pre-Disease?

Back to the Basics.

I used to play football and had a coach who said "If you block and tackle better than anyone, then you will win championships"

I thought he was crazy. I thought you had to have super talent to win. But year after year it is clear in the NFL that teams who block and tackle better...win. You know this to be true in all sports.

So here at the Gene Sherpa, I am going back to the basics. I have been getting away from that and being a little preachy and in fact turning into a tabloid...While it does generate alot of blog hits.....Searches for Navigenics has sent my hit rate rocketing on FeedBurner....I think we need to report on how we are doing in our progression to Genomic Medicine.

So when I open this month's edition of Internal Medicine News "The Leading Independant Newspaper for the Internist-Since 1968" it is nice to see several headlines involving genetics. But it is sad to see the front page reading "Help Wanted: Internists Needed"

Yes it is true, there is a lack of primary care providers and it is only getting worse. They are suffering from the same problem as the medical geneticist. Not enough pay for the value of services provide....

But there is some good news, Primary Prevention works. We are already seeing the benefits of the HPV vaccine reducing the incidents of abnormal pap smears. HPV is a virus which causes cervical cancer. The first signs of an abnormal cervix are found on a Pap smear. In fact a reduction in cervical biposy of 22% is a very big sign we are headed in the right direction. Imagine that....Vaccines work.

In addition to all of the Genetic/Genomic Centered articles there is a subsection which I had mentioned in prior posts called "Genetics in Your Practice". In this section the cover connective tissue disorders like Marfan Syndrome. This is especially timely after the lawsuit involving John Ritter's death. Aortic Aneurysms are genetic and familial. In fact we have seen patients with such conditions. Timely detection by ultrasound can avert sudden death. It is important to pick up the subtle clues by taking a family history. Often a referral to a Medical Geneticist may aid in the diagnosis and treatment.

This is not to say we always get it right. We were wrong about the intitial pathogenesis of Marfan Syndrome....but now we know "better".

Often, I have heard a comment about "Outliving" BRCA risk. We know that BRCA cancers are often earlier onset. We also say that their penetrance (ability to cause disease) is not 100%. Meaning, not all people with BRCA mutations get disease. But, we may be wrong.....In a new study of postmenopausal women with BRCA mutations, Dr Tice of UCSF reported on 114 BRCA 1 and 90 BRCA2 women who were unaffected by age 55. From he study he concluded and validated this fact. Women with BRCA1 or BRCA2 mutations who are unaffected at 55 years old. Mutation still confers a lifetime risk of breast and ovarian cancer of 50%....

Outlive risk??? Huh....Wrong again. Interestingly enough, most prophylactic mastectomies and oophorectomies are done in women younger than 55. Is this because most BRCA diagnosis are in younger women. Well when analyzing the raw percentages, it turns out uptake is twice as great in women younger than 55....Maybe it is because some geneticists and counselors are telling the patients about "Outliving" the risk. I guess they over credited those modifier genes.....Or maybe they didn't see a genetics professional at all. This can be a big problem with H/O specialists. Oh and Bradbury's study the average age of the 88 studied was 42 years old...hardly old enough. I still cannot find how may were over 55. In that study, older age was considered older than 40!

Ok, so here's the skinny on the Navigenics cocktail parties. Around 50 people were there last night. Alot were employees of the company. Opening night a head count of 90. Different from the reported count. Here's the kicker.....open bar, good looking bartenders, good discussions...... There, I have sated my tabloid fix

The Sherpa Says:

Those who climb the mountain on a weekly basis must not get too arrogant. The mountain can punish you as well.

DVPMP and Me

So today I want to ask all of you a question. Is there a conflict of interests if I participate in the Delaware Valley Personalized Medicine Project and sit on its Informed Cohort Board? I have been giving this some thought lately....

This is a wonderful project with some very secure privacy measures akin to Swiss Banking. Unlike other Direct To Consumer projects this is Funded. Unlike others we will be evaluating on a rolling basis and releasing data that is reviewed by our board. I would love to participate.

So I ask.....would it be a conflict if I reviewed the data AND had submitted a sample?

If I paid for the 23andME or deCodeMe would I have reviewed my OWN data. You are damned right I would. So what makes this different? I would be reviewing and commenting on others' data too. The important point is that we only release medically actionable information after we have discussed it. So in essence I would be blinded to my data until after we had reviewed the studies.

So........

I ask....."What do you think?"