Do you hear that sound Mr Anderson?

In an obvious move California has taken their stance. This was the sound of inevitability. I find it funny that the same journalist hyping these tests 1 year ago is now reporting on how California has sent cease and desist letters to the genome firms. This week, the state health department sent cease-and-desist letters to 13 such firms, ordering them to immediately stop offering genetic tests to state residents.

As I sat near Dietrich Stephan, Joanna Mountain of 23 and Me, Ryan Phelan and the number 2 from deCode it was evident on their faces. I knew they had received the letters (Well maybe not Ryan, she was ebullient)*. Their faces showed what I already knew to be true. Medical Genetic testing will and should fall in the realm of healthcare and practitioners.
* It turns out Ryan Didn't get a letter!

According to the article from Forbes

23andme did not immediately return calls Friday afternoon. Navigenics confirmed it had received a letter. Navigenics Chief Executive Mari Baker said her company continues to process orders from California residents because "to the best of our knowledge, we are in compliance" with state law. Navigenics uses a doctor to transit orders and review results, and it relies on a state-certified lab testing company to do the gene tests, Baker said.

This strategy is ok for now. But I have the inside scoop. This little loophole is going bye-bye soon enough. That's right, in order to test, you are soon going to have to document informed consent and evaluation by physician or extender. So anyone not doing what Helix Health of Connecticut is doing will soon find themselves on the wrong side of the law....again. Don't believe me? Just investigate the Medi-Spa industry. Think you will win the lawsuits? Yeah.....Napster did too.

From the Mercury News
......It added that the businesses were told to submit a plan of correction within 14 days to the California Department of Public Health, showing "how the businesses will prevent further violation of California state laboratory law."

"Businesses that fail to comply with the order are subject to civil and/or criminal sanctions," the statement noted. Brooks said those fines could be up to $10,000 a day per violation.

Hey Guys. Got 5 million to spare? I can make all your problems go bye-bye.....

The Sherpa says:

The Matrix and Neo finally combine forces to beat Agent Smith.....remember?

Sherpa Hits San Francisco

Imagine rounding up everyone that is influential in the Genome Sequencing world on the science side, then add a healthy set of journalists, mix in a group of Venture Capitalists and put the leaders in corporate industry at a table to answer their questions. Including, the Sherpa!!!

This was a whirlwind tour, where I managed to meet with some pretty influential people in silicon valley. I introduced them to Helix Health of Connecticut and our plans for the future of Genomic Medicine. They introduced me to some people looking to make that happen.

Also I was involved in discussion and gave a talk to the group at Beyond Genome Conference, hosted by CHI. I also was asked to advise CHI on a novel educational initiative for them. I am honored. In addition I was able to meet with a good friend of mine and begin to prep for the Coriell meeting next Monday....whew!!!! What a crazy day!

Let's start with the Beyond Genome Conference. I must admit, that since my first crazy days of posting, I have grown fond of Ryan Phelan. The early readers often read about how I thought she was screwing up everything. Well, it turns out. Ryan is probably one of the most thoughtful people in this field.

She presented a wonderful topic at the conference. In it she expressed...."Not all genetic tests are made equal" I totally agree with her. Some are bogus and some are real!

Her talk made me feel that for the regulations, which are coming, she wanted them to be tempered accordingly to their usage. I agree....sort of. If the tests are for medical use, they should be medical. If they are for non-medical use i.e. eye color, height....they should not be regulated like medical diagnostics. Here's where I kind of differ. I think all tests that have anything to do with medical conditions, should have some sort of medical service associated. Much like my specialty's party line.

What amazed me about Ryan was how she broke this down, so eloquently, yet so simplistically. It was actually pretty elegant. I am truly impressed by Ryan. She has been at this longer than any other business. Not longer than any genetics program, but longer than any business.

And let's face it, she was the first person to put genetics in the public eye! That is always a great thing!

I also was amazed at how nice the people I have been shouting at accepted me.........I am certain Caesar felt the same way! The nicest of all was Dietrich Stephan. He even thanked me for publicly supporting him. Which I have in some forums. I think that if you are going to do medical....Do Medical. They are....but they need some brick and mortar to keep out of regulatory heat. Dietrich, if you read this, give me a call. I have an idea for you.....

I swear Linda Avey smiled at me. Even when I said that they had forgotten to address some of the key issues. But at first I was worried when she initially saw me......They could kill. even the CSO of DeCode was nice. I do disagree with some of the things he had to say. Including the power of SNPs versus things like LDL. Or the power of SNP testing to identify predisposition to Atrial Fibrillation.

If there were cardiologists in the audience, they would have laughed. You see. Afib is one of the most common diseases in elderly adults. In fact, a single snp doesn't predict for crap compared to risks like; large heart, high blood pressure, family history. In addition, the talk didn't even mention the score most DOCTORS use to predict risk per year of having stroke from atrial fibrillation.

This is called the CHADS2 score. In essence it is the BEST clinical predictor of stroke in atrial fib. It is also a great mortality predictor. My guess, the AFIB test will not be used. There is no cardiologist who will order this. As for a patient, they would be best suited to know their family history and make note of funny heart feelings. If the test were sold at about 50 USD then maybe it would be worth it. Why? Because, the minority of patients who don't feel their afib would be made aware.

But any more than 100 USD would not be cost effective. You would figure a big company worth tons of money would spend the time consulting a cardiologist or reading about other clinical risk predictors. I really am scared about this side of the business. Monetizing tests and marketing them without proving superiority or non-inferiority to the standard clinical tests could pose economic strain on the system. I do agree that it is a nice to have thing. But so is an echocardiogram or a CHADS2 score!

The Sherpa Says: My point, SNPs aren't everything and medicine has existed long before this new technology. So we need to integrate the 2. Not to try and replace the whole system with new and not completely evolved technology! Lastly, If we don't regulate the renegades in our group, we will only have ourselves to blame for the very STIFF governmental regulation. Lastly, thanks to those who gave me such a warm welcome. I just hope I won't be saying Et Tu Brute!

Newborn Screening for Alzheimer's Disease?

Don't Forget that Gene Genie is up at Neurophilosophy so check it out!

I want to thank the Connecticut Geriatric Socitey for inviting me to speak at their wonderful group's Annual Meeting. It was a lively time and the Salmon was excellent. At the end of the lecture we had a lively debate with several clinicians.

Family history is king when it comes to Alzheimer's Disease. APOE e4 testing is not super worthwhile, unless you identify ApoE e4 in an affected and then work the family up that way. But the 3 gene panel for Early Onset Alzhemier's is definitely a must. Provided the 3 tenets of Informed Consent are met.

What are those 3?

1. A plan of action for results. "What would you do if you had a positive or negative or uncertain test result?


2. Are you Psychologically prepared to handle the results. And do you understand the implications?

3. Do you understand the limitations of the test?


If those three things are met, then testing is likely going to be beneficial. Provided testing is medically indicated.

Here is where I see some shortcomings with this. Did you know that in the US every pregnant white woman is tested for CF carrier status once pregnant? Did they give informed consent? Usually no. It is just added to the panel of testing, much like the quad screen. There are some serious implications in the prenatal realm.

In Medical News Today there is a PR post regarding The Treuman Katz Center for Pediatric Bioethics at Seattle Children's Hospital hosting its fourth annual international bioethics conference on July 25-26, 2008 in Seattle.

This conference will cover some tough issues. Why? Because they need to be addressed. At the Geriatric Society talk, I was asked about pre-implantation diagnosis for Alzhemier's. There is a case report of PGD for Early Onset Alzheimer's with the gene APP. This poses some serious controversy..

Personally, I think this expresses a severe pessimistic view of adult onset disease and the likelihood of no better treatments for Alzheimer's in 30 years. Can you imagine that? It is alot easier when looking at a disease like Huntington's Chorea, where we have known the genetic issue for decades. True for APP Alzheimer's as well. So I ask you, is it such a stretch?

Issues to be covered include: From the Site

With technology rapidly advancing — bringing about more genetic tests — many ethical and policy questions must be addressed to appropriately use these new tools of genetic assessment in children:

• Which tests should be required of all newborns, and which tests should not be permitted until the child is an adult?



• Should parents be able to test young children for the risk of future diseases, such as breast cancer or Alzheimer disease?



• What obligations are there to inform family members about genetic test results that may impact them?



• What are the ethical implications of using genetic tests to predict behavioral traits, such as attention deficit disorder, addiction and depression?



• What are the ethical considerations of looking for a genetic predisposition for enhanced abilities, such as the potential for sports performance?



• What if adolescents and their parents disagree about genetic testing decisions?



• What genetic tests should be available to prospective parents before the adoption of a child?

A representative from Helix Health of Connecticut will be there. Hopefully it can arrange to have one of the MediCasts cover these topics.



The Sherpa Says:

Ethics, a class taught in all medical schools. Hopefully it was also taught in B-School. The Sherpa has been down this road before..... The Sherpa will be speaking at the Beyond Genome Conference on Tuesday. If you can come, please do.

From the Mouths of Babes

To get ready for my talk with the Connecticut Geriatrics Society. I warmed up by taking 3 hours today and spending it with the Future of Genomic Medicine. Yes, that's right. Pubescent Teenagers!!!! I want to thank Dr Gerry Frumento at West Haven High School for inviting me into his classroom to talk about Ethics, Genetics, GI Joe, Genome Wide Scans, Longevity....and as one teenager put it "You Know Half Man-Half Horses"

You gotta love teenagers. They take an idea and then make a huge hyperbole. I have to list some of the great questions.

1.) Can you inject genes into my eyes and changes their color?

2.) Do you make designer babies?

3.) Is pot worse than cigarettes? (That was my favorite)

4.) Why do all this testing if we don't know what it means yet

5.) Why does this matter? I am going to be a Lawyer! (That was my second favorite. He better pay me when he lands these huge malpractices cases sure to come)

6.) Can we really live forever?

7.) If I go to medical school, do I have to touch patients?

8.) How much money do you make? (I have a nice Canali)

9.) Is it ethical to test people without knowing what it means (This question was from a really bright boy who had long hair and dressed like a rocker.)

10.) Really, how much money do you make?

There you have it. The top ten. I took dozens of questions. I just hope something sticks and that they will begin to see the power of genetics. After that interaction, I went to the Internal Medicine Department here at Yale and told them that I needed their help to get my study to the next level. With all the growth in Helix Health of Connecticut and some new projects, I am just not certain I can give good stewardship to my research. Sometimes you just need to hand over the reins, for the good of the baby!

Well, now I have to go. Imagine, a coffee shop with no electrical outlets!

The Sherpa Says: Keep Climbing.

14 years and still no good genes!

I am preparing a talk for the Connecticut Geriatric Society and I am just can't get over it. We haven't found good genes for Late Onset Alzheimer's Disease since 1994. Sure we have SORL1, GALP and MAPT from the sexy Genome Wide Studies....but nothing increases risk like APOE Epsilon4.

In fact when you look at all the other genetic risks, NONE top an Odds Ratio of 1.5. Why do a I always harp on Odds Ratios? It's simple. If you can't beat the family history risk increase (300-500%) for a first generation relative, then you can't have much clinical significance, unless you have a multiple gene panel that does.

Why is clinical utility so important? Why not just test everyone with everything. I see several problems with this.

1. False Reassurances, patients are led to believe they won't get some devastating disease and thus fail to plan appropriately. And in some cases take preventative measure...This is called Harm to Patient and it is malpractice.

2. Inappropriate Action, there are several modifiable risk factors in many diseases. This often is argued as the reason FOR testing everyone. But this only assumes that modifying behaviors are actually good things. But, did you know some things like vitamins can actually be bad and promote things like cancers? So you mega dose on Folate and end up promoting breast or colon cancer because you found out that you "Process Folate poorly" on a Nutrigenomics test. And that is just Folate, what about preventative medications? Even more dangerous!

3. Exposure to Discrimination, as I stated in previous posts GINA has passed, but will not go into effect until 2009. In addition, GINA does not cover disability, life, or long term care insurance. Nor does it cover any form of discrimination outside of workplace or health insurance. Medical records can be subpoenaed. However, in most states it is illegal to ask for health records without good cause. Unlike corporate information, which can be bought and sold without YOUR permission! This includes identifying factors Ladies and Gentleman!!! This is why this testing should be done in the realm of healthcare protection.

These are merely 3 of the many reasons I see that we should not be applying SNP scans to everyone. There has to be some clinical significance for actions. If you want consumer enabled research, then you have to protect the consumer. Just as if they were a subject under the protections of an Institutional Review Board.

The Sherpa Says: I could go on a diatribe about this forever. But I have a talk to prepare. Imagine this 80% heritability and only 1 gene for Late Onset Alzhemiers....we must not be looking in the right place.

Historic Events

First I would like to congratulate the World Science Festival for putting together a wonderful program. My friend Misha shared his thoughts today. A long time ago I was asked to help with this. Unfortunately with my busy schedule and theirs we lost contact. I really would have loved to participate with this wonderful group of individuals.

From GenomeBoy

The World Science Festival was as delightful as advertised. The street fair was overflowing with stuff to do, especially for kids. Next year I hope to bring mine. Bravo to Brian Greene!

It always happens, as one door closes, another opens. Today I received my welcome email from the Informed Cohort Oversight Board at Coriell. I have mentioned this historic project in the past, but only now do I understand the magnanimnity of it all. Why? Just look at the email list..

Erin O'Shea Howard Hughes Medical Investigator and Excellent Envirogenomicist/Epigeneticist

Ellis Neufield Associate Chief, Division of Hematology/Oncology, Children's Hospital Boston

Ken Offit Director of the Clinical Genetics Service at the Memorial Sloan Kettering Cancer Center
and Chair of the subcommittee on cancer genetics of the American Society of Clinical Oncology.

Charles Rotimi Dr. Rotimi is the Director of the NIH Intramural Center for Genomics and Health Disparities (NICGHD)

Marc Lenburg MicroArray Guru and Associate Professor of Genetics & Genomics Boston University School of Medicine

David Pellman Cell Cycle, Genome Stability God, Associate Professor of Pediatric Oncology at the Dana-Farber Cancer Institute. Oh and Howard Hughes Medical Investigator

Floyd White The Reverend has served Camden and its citizens for nearly a quarter century In addition to his duties as pastor an active member of the Healthy Mothers, Healthy Babies Coalition of Camden. He also is an appointed member of the State of New Jersey's Blue Ribbon Task Force on Black Infant Mortality convened by the NJ Commissioner of Health and Senior Services.

Mike Christman President and CEO Coriell Institute for Medical Research

and............

The Sherpa Managing partner of the First standalone Personalized Medicine practice, Yale Clinical Genetics Fellow '10, Rabid Genomic Medicine Blogger, and soon to be participant of the Coriell Personalized Medicine Collaborative!

This is a truly historic event. The demand to participate in this project is HUGE. People from all over, including San Francisco have stopped by to participate.

So, while I would have loved to bump into Francis again or actually meet a nobel laureate. I guess that will have to wait.

The Sherpa Says:

We will get set to debate the utility of a cohort of SNPs on June 16th. Stay tuned to hear the latest!

Ken and the Senate

"GINA is a laudable gain, but it is only half of the regulatory reform needed. We need to turn to genetic testing itself, which, surprisingly, has escaped comprehensive federal oversight. One of the cited needs for GINA has been the explosion of genetic testing by direct-to-consumer for-profit companies. Just last month, one testing company set up a storefront in New York to hawk its wares. Many physicians and genetic counselors feel that such direct-to-consumer marketing of genomic research information is premature at best, and dangerous at worst."

"In response to a recommendation from an advisory panel to the secretary of Health and Human Services, the Food and Drug Administration, the Federal Trade Commission and the Centers for Disease Control and Prevention issued a joint warning to consumers about at-home genetic tests. But that is not enough. The FDA and FTC should directly safeguard the scientific accuracy and safety of products marketed as predictive genomic tests."

"Absent such federal protections, all states should act. Currently, 24 states prohibit or limit direct-access testing without a medical professional's involvement. In New York, the Department of Health recently sent letters warning of fines and jail time to several online gene-testing firms that offer direct-to-consumer genomic testing through laboratories not licensed to provide testing to New York residents. Other states should do the same."

"When the validity, utility and safety of breast cancer genetic testing was debated a decade ago,we proceeded cautiously. We offered testing to our patients as part of research studies. But in the new era of "home-brewed" genomic tests of unproven validity, federal regulation is needed."

"Without regulation, the commercial marketing of inaccurate or medically irrelevant genomic self-testing may do much more damage than the specter of genetic discrimination that led to GINA."

-Kenneth Offit to the Washington Post
Kenneth Offit is chief of the clinical genetics service in the Department of Medicine at Memorial Sloan-Kettering Cancer Center in New York.

The Sherpa Says: Me thinks further regulation is coming........very soon.