Scienceroll reviews Personalized Medicine Companies

Today, Bertalan Mesko at Scienceroll has reviewed three companies. Navigenics, 23 and Me, and Helix Health of Connecticut of CT. For full disclosure, I am not only the owner of Helix Health of Connecticut, I am also a patient. My family has a significant genetic background for disease. Because of this, I was motivated to change the paradigm of current medical/genetics practice.

Berci does a nice job of describing the companies and what he estimates their best attributes.

"If we could merge the real advantages of these companies:

• the fantastic team of Navigenics and their unique business model;
  


• the financial background of 23andMe; the focus on genealogy information and social networking;


• the personal aspect of Helix Health of Connecticut and their potential to serve and help physicians as well,

…then it would be the perfect service. But it’s impossible to compare them properly as they are all unique in their own way and will probably find their base of customers."

I have to say that I am in agreement with Berci, I wouldn't mind working with Navigenics or 23 and Me to help shape this field known as personalized medicine. I have had experience with the multiple legal issues involved in providing telemedicine and other scalable services this way. But I must re-emphasize that nothing gets truly communicated unless the patient has the ability to ask questions, over and over again. Can someone who has never been trained in medicine answer medical questions? Yes. Will they be protected from litigation? No. Will they provide insightful answers....I leave that answer up to you.

I don't believe it is a smart idea to cut out the health care provider from this equation. Full Disclosure (I am a health care provider). But that's not why. I have seen it done the other way. I have seen patients who have had DTC testing. They have received services from certain unnamed companies and couldn't understand what was going on. Even worse the needed some re-assurance but the phone counselor obviously couldn't see the patients face. So all in all they came to me for personalization. The true key to personalized medicine.

The Sherpa Says: Stay Tuned to Scienceroll. I know I visit his blog everyday. The talented Dr Mesko has the most cutting edge information on this fast moving topic. He is my own personal Sherpa. By the way, make sure you vote, there are 4 days left. It's all tied up. "How much is a Sherpa worth to you?" Some of my readers feel like they could take a course to be a sherpa, Others already are Sherpa's, some are looking for a sherpa, and the last want to climb Mt Everest with 1 cleat, a windbreaker, and Wikipedia as their guide. Which are you?

Couma-GEN study

Hot off the presses atthe American Heart Association conference, results of a geneotypic based coumadin dosing strategy were released. The results of this 200 person study were pretty neat.
from MedPageToday

"Out-of-therapeutic-range prothrombin times were not less common with the pharmacogenetic algorithm than with standard empirical dosing, But initial doses chosen based on genotype were closer to patients' eventual stable doses (P<0.001) and subsequent dosing adjustments were smaller (P=0.002) and less frequent (P=0.03) than with empirical dosing, reported Jeffrey L. Anderson, M.D., of Intermountain Healthcare and the University of Utah in Salt Lake City, and colleagues."

"The Couma-Gen study included 200 adults with an indication for warfarin who were randomized to receive the drug according to a standard algorithm of 10 mg on days one and two followed by 5 mg daily or by a pharmacogenetic algorithm based on genotype, age, sex, and weight."

Most notably a subgroup analysis (which is suspect based on the small sample size) found

"Pharmacogenetic-guided dosing failed to reduce the percentage of INRs per patient that were outside the therapeutic range compared with standard dosing (30.7% versus 33.1%, P=0.47), which was the primary endpoint. However, there was a significant benefit when excluding patients with only one variant (41% of patients overall)."

So where does all of this dosing decision go from here? I await the CROWN study results as well as what Washington U St.Louis has to say.

Lastly, I have had only one comment on my last post. Why do you think DTC testing is Illegal in NY and CT. Please read this post and make a comment! The last one was pretty interesting. I wonder if he's tried do it yourself surgery yet ;)

-Steve

The Sherpa's Leash

Well, after the nitroglycerin I had to take for the angina my last post gave me (and I am sure many others) I have decided to ask my readership a question, I am hoping that we could start a dialogue. I know the last time I went at a certain GENEDTC company, a certain CEO asked an unnamed and famous friend of mine to put a leash on me. Next time, I ask the CEO to find my contact info on the Helix Health of Connecticut site and ask me nicely.

So I ask you all.

Why do you think it is illegal to Direct To Consumer genetic test in New York and Connecticut?

Please comment and lets get to the heart of why the DNA sandbox is such a contentious place.

Congratulations...Sort Of....

For those of you who had no internet/tv/WSJ access this week (But how could that be if you are reading this post?) Navigenics, the DTC genomic testing company has officially launched. 11/6/07 (Funny, my lucky number just happens to be 24) What they offer is pretty decent

From the WSJ

"The company believes people will want to take the $2,500 test when they're healthy, and then make lifestyle and other changes to avoid or delay disease. Results, which will be posted on a Web site that customers access with a password, will tell consumers their risk for more than 20 conditions, including diabetes, obesity, prostate cancer and glaucoma"

Not a bad price for 20 genetic tests. Who gives the counseling? Navigenics can. Will this replace high priced tests like BRACAnalysis? Maybe. But here is DTC testing's Achilles heel.

New York State has laws on medical privacy, genetic privacy, and human subject protection, making it among the more restrictive states for the conduct of research or genetic testing.

New York prohibits the conduct of “genetic tests” without the prior written informed consent of the individual. A genetic test is defined as:

“…. Any laboratory test of human DNA, chromosomes, genes, or gene products to diagnose the presence of a genetic variation linked to a predisposition to a genetic disease or disability in the individual or the individual’s offspring; such term shall also include DNA profile analysis. ‘Genetic test’ shall not be deemed to include any test of blood or other medically prescribed test in routine use that has been or may be hereafter found to be associated with a genetic variation, unless conducted purposely to identify such genetic variation.”

According to the statute, prior to a genetic test, individuals must be notified, individual authorization must be obtained, and specific elements must be incorporated into the informed consent form including: a general description of each specific disease or condition tested for, the level of certainty that a positive test result for that disease or condition serves as a predictor of such disease, the name of the person or categories of persons or organizations to whom the test results may be disclosed, and a statement that no tests other than those authorized shall be performed on the biological sample.

Bottom Line- A separate consent for each disease which is tested for!

For clinical genetic tests, the informed consent must state that the sample shall be destroyed at the end of the testing process, or not more than sixty days after the sample was taken, unless a longer period of retention is expressly authorized. New York law requires individual authorization for sample retention for up to ten years if no genetic testing is performed; however, informed consent must be obtained prior to the conduct of genetic tests. Retention of a DNA sample past a period of ten years requires explicit consent for a longer or indefinite period of retention.

Bottom Line-A separate consent for DNA Banking

So what does the written consent look like? I wonder what dream team of lawyers have debated these issues. This is not the first time laws to protect the patient were devised. Back in 1997 we had some similar arguments.

In addition to the thoughts of individual consents for zillions of "possible" tests. Who constructs consents for tests never conceived? I imagine you will have to review the DTC testing legislation in each state. A nice review is here at Hopkins.

In my states (CT, NY) we have many prohibitive laws....

From CT

Regs.Conn. State Agencies §19a-36- D29(a)

Regs., Conn. State Agencies §19a-36-D32(a)

Laboratories may accept specimens only upon request of licensed physician or other persons
authorized by law to make diagnoses. Laboratories may report findings only to the licensed provider that ordered the test. Laboratories may provide results to lay persons upon written request of the provider who ordered the test. An official at the Connecticut
CLIA Laboratory Program confirmed that DTC testing is not permitted.

New York?
N.Y. Pub Health Law § 576-b N.Y. Pub. Health Law § 577 10 NYCRR § 19.1(j) 10 NYCRR § 58-1.7 10 NYCRR § 58-1.8 10 NYCRR § 63.3(e)

In general, tests may be ordered only by licensed physicians “or other persons
authorized by law to use the findings of laboratory examinations in their practice or the
performance of their official duties.” Consumers are not listed among those
authorized. Test results cannot be sent directly to patients except with written consent of the
physician or authorized person, except blood type and RH factor can be given in writing to
the patient without written consent. DTC testing is permitted for tests that have been
approved by the Food and Drug Administration for direct, over-the-counter sale

to consumers. An official with the New York State Department of Health confirmed that
DTC testing is not permitted, other than for certain tests relating to the blood supply, such as HIV and Hepatitis C tests.

The Sherpa Says:

Congratulations Navigenics....I look forward to the hordes of lawyers, genetic counselors, and States' Attorney Generals. More importantly, this should serve as a wake up call to all DTC testing companies playing around in CT and NY. Consider yourselves warned! DTC testing in these states is Illegal! Luckily at Helix Health of Connecticut there are trained physicians and counselors skilled at guiding you through the testing process. In the offices in Greenwich or New York, Or through our home visit service. You get the best of both worlds, testing AND counseling!

6.8 IQ points! Give me a break!

When reviewing the web today it has become clear that the media is again hyping things today.
A study designed to evaluate the effects of ONE GENE on the role of IQ development in breastfed vs non babies. At first read does this sound like it could be true? I mean does the entire neurodevelopment of IQ hinge on this one gene.

Hsien Lei covers the story over at EyeOnDNA and so does Reuters.

Why is this story fishy at best?

1. According to the authors "We took cells from the children and then analyzed DNA and then we compared how they scored on IQ tests and looked up if they were breast-fed as babies," "It was very straightforward." Retrospective analysis is genetics is never the gold standard! Prospective is.

2. The authors even state (IN THE ARTICLE) that the modification of IQ is not likely to be due solely on this one SNP!

3. This is the FIRST study and replication is essential. But where do you read that at Reuters?

The Sherpa Says: That being said, this could be a pathway. I bring to your attention the age old debate about coffee being good/bad for your heart. When looking at environmental effects through a genomic eye the answer was found. Coffee is good if and only if you process it fast enough. So maybe we should be checking out FADS2 and CYP 1A2.... Let's not jump the gun just yet. Maybe the gene is just a marker and has nothing to do with breastfeeding at all. Just like this previously linked story....

The Genie is Back at Scienceroll

Thanks again to Bertalan Mesko for putting the Sherpa on the Map at the Gene Genie. Number 19 is up at his blog Scienceroll. A nice Texan tells us about our 95% "Junk" and the 0% in the Puffer Fish.

More importantly today I read a verification of what I already know. The United States population is fed up with our healthcare system. Is that a surprise to anyone? I know that the patient is fed up with short visits, uncoordinated care, and increasing costs. Why pay for a system that fails to place emphasis on preventative care? I for one am fed up with the system we have.

But what is the alternative? As a farily recent medical grad I face 280,000 USD in debt. In addition, I am in a field where the governmental rate at which the pay for interpretation of a complex genetic test is 18 USD. How many tests would I have to interpret to pay that cost back? You do the math. This is precisely why you have so few genetics providers in the US. The same is true for primary care physicians. We are headed down a dangerous road.

How will we ever achieve personalized medicine if the physician only has 20 minutes to do your preventative care. Lipids, Blood Pressure, Glucose, Colonoscopy, Mammo, Pap Smear. Once I address all of these things there is no time to take the family history. There is a reason why most EMRs don't have good family history intakes....There is no CPT code for taking one!! If you don't get paid for it, some would argue "Why do it?"

With Thanksgiving coming up I would like to remind everyone of the Department Of Health and Human Services tool to take your own family history. Take this time on this national family history day and use this. It truly could save your life.

The Sherpa Says: If Medicare pays 18 dollars for test interpretation (The largest amount of any insurer).....Maybe we should ask the public what they think it is really worth.

New Gene in Sudden Cardiac Death!!!

I have always had an issue with genetic testing in sudden cardiac death. A significant proportion of patients come up with "negative tests" Does that mean the patient and her/his family is not at genetic risk for sudden cardiac death? No....and now we do know there is another gene.

The gene is called GPD 1-L. Why is this gene important? Several reasons.

1. While not an ion channel (Which are the majority of Sudden Cardiac Death Genes) itself, it is a trafficking gene that allows the sodium channel to find its way to the cell membrane. Therefore the "channel" doesn't work properly. This has been known in LongQT syndrome and now Brugada Syndrome Many diseases have tricked us by these pathway variants, I can think of several modifier genes/polymorphisms in cystic fibrosis that can be missed on routine carrier screening

2. "we suspect that the function of the native GPD1-L gene and the mutant are influenced by oxidative stress, a process which interferes with the body's natural ability to repair itself from antioxidant assaults" Interestingly, smoking parents have been linked to SIDS deaths for quite some time now....This could lead to our finally understanding why on a given day someone who has this loaded gun can actually display the deadly arrythmia (funny heart beat)

3. This new discovery will help to identify those at risk of the >250,000 deaths each year from sudden cardiac death

The Sherpa Says: The evidence behind this link is solid. It is truly an identifiable cause of arrhythmia. Now if we could only get Familion to charge less than 5000 USD for this set of screening tests.....Perhaps we may be able to elucidate who will benefit from the device known as an Automated Inplantable Cardiac Defibrillator and who will not. Perhaps oxidative stress is the key linchpin here. Therefore, maybe by not smoking, taking antioxidants, avoiding oxidative stress we can prevent some of the 250k cases of arryhtmogenic death. Time will tell.