First and Foremost,
To all women who have hereditary patterns of Breast Cancer, but have a negative BRCA work up....there is new information which deCode has released in Nature Genetics. I was very excited about this and look forward to some significant replications.
From a recent MarketWatch report
Common variants previously discovered by deCODE on chromosomes 2q35 and 16q12 are together involved in an estimated 25% of ER+ breast cancers. The analysis in today's paper also reveals that a fourth known set of variants, located on chromosome 10q26 and accounting for approximately 16% of breast cancers, appear to confer risk exclusively of ER+ tumors. deCODE is applying these variants as the basis for a DNA-based reference laboratory risk-assessment test the company plans to launch in the coming months
The rationale for such testing is all the more compelling in ER+ cancers, since drugs such as tamoxifen have been shown to be successful in preventing as well as treating these cancers, and other drugs now in development may prove to be safe as long-term prophylactic therapy as well.
This is huge news. Imagine being able to pinpoint risk for ER+ breast cancer. We already have medications which can reduce the risk of these cancers!!!!
I think the excitement was there until......I looked at the Odds Ratio! So to recap, "New genes for breast cancer, but the increased risk is only 20% above the population". In fact, that was the largest effect. So I want to say Ho-Hum about these tests and probably will. But, the American Cancer Society is recommending MRI for those who have an increased risk for breast cancer. Notably once that risk is 25% about the population risk. This MIGHT put people into this category....I say MIGHT!
So this leads me to my next question is this a medical test? Or a recreational genomics test?
A report by BioArray News..
By Justin Petrone
Hoping to insulate themselves from regulatory pressures from at least one state health agency, some direct-to-consumer genetic testing services may position themselves as disease-risk testers while others may focus more on recreational genetics, such as determining genetic ancestry.
Thus, I ask what testing company could insulate themselves when it is obvious that even ancestry testing can reveal medical data!!! Personally, I feel that when applied...any genetic test can identify medical risk.
So is all genetic testing medical? To subsegment in a hope to protect from legislation is disingenuous at best. The government is going to come down hard on these companies... All in the name of protection of the public. Why? Because the public like the physician is not quite ready for this.
Blaine points this out over at The Genetic Genealogist.
Some concept questions were failed by over half of participants. Which only reinforces the public's lack of understanding and susceptibility to hype. Much like the WSJ hype on this finding. Shame on Marilyn over at the WSJ for not reporting the mild increased risk and instead lumping this in with the BRCA gene risks!
The Sherpa Says:
The public is anxious to buy into hype. Companies are anxious to build hype and it seems all too convenient that the press is willing to help. The path is getting complicated. Let's use the principles on this one. 1. Await replication 2. An Odds Ratio less than 2 is not that impressive 3. Don't believe the reports, unless translated by a professional.
Wednesday, April 30, 2008
First and Foremost,
Monday, April 28, 2008
Saturday, April 26, 2008
So some people have been talking about this wonderful polymorphism in African Americans. This polymoprhism is in the GRK5 gene. What does it do? Well, before I look at any polymophism I always ask. "What does the gene do?" GRK5, short for G-coupled protein receptor kinase, this kinase acts as a switch that essentially turns off receptors. Such receptors bind catecholamines, which are sympathetic system neurotransmitters like epinephrine and norepineprhine. They also bind peptide hormones such as angiotensin, which is implicated in high blood pressure. For the lay person....this gene helps regulate response to adrenaline and other hormones that are in overdrive with stress and in this case heart failure (the inability of your heart to pump your blood).
Friday, April 25, 2008
1. The databases are designed to keep genetic data and phenotypic data separate from personal account information.
2. Storage of certain personal information such as account information is encrypted.
3. The network perimeters are protected with firewalls.
4. All connections to and from our web portal are encrypted with a VeriSign SSL Certificate with Extended Validation (EV) and server-gated cryptography (SGC). This is the most trusted and secure option for SSL.
5. Internal and external audits of perimeter and software code security are performed.
Employees' use of the databases is monitored and records of all access to personal information are maintained.
1. Access to the building housing the Coriell data center requires an electronic keycard badge ID for entry into the facility.
2. Physical access to internal servers is restricted to authorized personnel.
2. Annual privacy and security training is required for employees with access to personal information.We meet HIPAA IT requirements
Thursday, April 24, 2008
Second, the American College of Medical Geneticists has put out a statement regarding genetic tetsing and patient care. Hsien, points this out over at Eye on DNA. She does a great job of highlighting the issues. Which, once again brings me to the point that diagnosing pre-disease is just as much medicine as diagnosing full on disease.
The notable item...
minimum requirements for any genetic testing protocol.”
1. A knowledgeable health professional should be involved in the process of ordering and interpreting a genetic test.
2. The consumer should be fully informed regarding what the test can and cannot say about his or her health.
3. The scientific evidence on which a test is based should be clearly stated.
4. The clinical testing laboratory must be accredited by CLIA, the State and/or other applicable accrediting agencies.
5. Privacy concerns must be addressed.
The Sherpa Says: Well. You have got to ask yourself. If the professionals are stating these are MINIMUM requirements.....what is everyone else doing? And why aren't they all doing the minimum?
Wednesday, April 23, 2008
When preparing my plan for genomic medical services I saw one HUGE barrier.
Posted by Steve Murphy MD at 5:30 PM
Tuesday, April 22, 2008
Monday, April 21, 2008
While I was lauding Misha ( One of the 10 PGP'ers) and correcting some misconceptions about the PGP informed consent process....something much bigger was happening. I don't know how I missed it...but I did...
Google Buys Into Navigenics!!! That's right...Google now has a stake in 2 of the big 3.......Me? I am the 4th...merely a little guy. Our humble abode is now protected thanks to the NYS and CT Attorney Generals...for Now, well at least until Google can buy New York State.
From Business Week!!
Size of Investment Not Disclosed
Calling 23andMe an example of a company "generating a whole new batch of information of interest to a broad range of people," Pederson says Google wants to extend its capabilities into genetic testing. The precise path and business contours of the emerging gene-testing market remain unclear, but if Navigenics succeeds it "will generate a lot of a very new type of information with potentially far-reaching value," says Pederson. "We felt it was important to get involved now, at the early stage, to better understand the information generated by this fast-moving field."
Did anyone see my post about the Master Plan????? Did anyone watch the Movie??
Read an excerpt from the story
"The Google Story"
Sergey Brin and Larry Page have ambitious long-term plans for Google's expansion into the fields of biology and genetics through the fusion of science, medicine, and technology. . . .One of the most exciting Google projects involves biological and genetic research that could foster important medical and scientific breakthroughs. Through this effort, Google may help accelerate the era of personalized medicine, in which understanding an individual's precise genetic makeup can contribute to the ability of physicians and counselors to tailor health care treatment, rather than dispensing medications or recommending treatments based on statistics or averages.
"We need to use the largest computers in the world," Venter said. "Larry and Sergey have been excited about our work and about giving us access to their computers and their algorithm guys and scientists to improve the process of analyzing data. It shows the broadness of their thinking. Genetic information is going to be the leading edge of information that is going to change the world. Working with Google, we are trying to generate a gene catalogue to characterize all the genes on the planet and understand their evolutionary development.
Geneticists have wanted to do this for generations."Over time, Venter said, Google will build up a genetic database, analyze it, and find meaningful correlations for individuals and populations. . . . Google's data-mining techniques appear well-suited to the formidable challenges posed by analyzing the genetic sequence.It has begun work on this project, but has not been required to disclose any information about it publicly since the work has no impact on its current revenue and profits."
People will be able to log on to a Google site using search capacities and have the ability to understand things about themselves as they change in real time," Venter said. "What does it mean to have this variation in genes? What else is known? And instead of having a few elitist scientists doing this and dictating to the world what it means, with Google it would be creating several million scientists."Google has empowered individuals to do searches and get information and have things in seconds at their fingertips," he went on. "Where is that more important than understanding our own biology and its connection to disease and behavior? With Google, you will be able to get an understanding of your own genes. Google has the capacity to do all of this, and it is one of the discussions I have had with Larry and Sergey."
My business colleauges say "A rising tide raises all ships" But I have to tell you, I am a little worried that they want to end around healthcare not just end arounding IRBs.
My guess. Google will acquire every single bit of DNA database they can get their hands on. Why? Knowledge is power. And they want both.
The Sherpa Says:
Since this is an industry...couldn't we liken this to the XM/Sirius merger? In all seriousness. These corporate genomics companies see medical genetics as a non-scalable model....so they want to get rid of it all together. Flying to the top of the mountain does not get you back down it. I plead with Google, please get some medical guidance. Please!!!!
Sunday, April 20, 2008
First I want tell everyone how absolutely amazed I am by Misha Angrist. I don't know if you know who he is. But I now tell you that you must. He is one of the PGP 10. I know, it sounds alot like the Oceanic Six...but seriously Misha is way better looking than Jack!
In this article we argue that the reality of the new genetics and genomics urges us to abandon the traditional concept of medical confidentiality.
Open consent as part of the Personal Genome Project implies that research participants accept that:
• Their data could be included in an open-access public database.
• No guarantees are given regarding anonymity, privacy and confidentiality.
• Participation involves a certain risk of harm to themselves and their relatives.
• Participation does not benefit the participants in any tangible way.
• Compliance with monitoring of their well-being through quarterly questionnaires is required.
• Withdrawal from the study is possible at any time.
• Complete removal of data that have been available in the public domain may not be possible.
The moral goal of open consent is to obtain valid consent by effectuating veracity as a precondition for valid consent and effectuating voluntariness through strict eligibility criteria, as a precondition for substantial informed consent.
Posted by Steve Murphy MD at 7:45 PM
Saturday, April 19, 2008
I am always amazed by the mathematical nature of genetics. Everyone can understand the A,T,G,C bases. The whole theory of DNA replication is easy. But let me tell you what is not. Biostatistics. Anyone who has a taken a course or two can surely back me up.
In the American Journal of Human Genetics there is a novel model for calculating Odds Ratios in Genome Scans. Why am I pointing it out here? Simple...there are several ways we analyze genetic data. This is a new way. Several papers as well as several corporate genomics have their individual way of calculating multiple SNP risk.....personally I feel that all of these should be published for peer review.
That still doesn't address my title. Why should the biostatistician get paid more? The mathematic link to genetics is huge. I am surprised there are not a significant amount of training programs emphasizing these statistical tools for physicians...But there are very few. Even the same for biostatisticians.....They are the workhorse of Evidence Based Medicine and Genomics. Why so little training in med school?
I guess we can just chalk it up to another field missed by curent graduate medical education. But don't worry, many advanced biology degrees miss it too.
In genetics there has been a shift away from the classical biostatistics to more probability based statistics. Such movements include the Bayesian changes that really started to move forward in the late 1990s. This has revolutionized our analyses.
No other field has relied so heavily on the backs of statisticians. But, Why I am commenting on how complicated genetic analysis is? Because now that we have alot of DTC testing going on, we may begin to devalue how important genetic discovery, scientist geneticists and clinical geneticists are. But even more so, we will begin to forget how very valuable the biostatistician is.
What is a biostatistician? You can find them at the Analytic Bridge....a network of "Analytic Professionals" Yes, even like us dorky gene heads, they have their own network!
So why am I posting about this on a Personalized Medicine blog? I just told you! If we did not have bioinformatics or biostatisticians, we would still be stuck with the punnett square! So today I say, "Thank You Markov Chain Guy!!!"
Posted by Steve Murphy MD at 4:51 AM
Friday, April 18, 2008
So, I am glad that I have been posting on this subject for quite some time now. It seems we all have been blogging about it. Today, Blaine points out an article at Forbes, which is further proof that someone is reading the Sherpa. Matt and Bob, sorry about slamming you before....I just needed to know where your loyalties stood. I did wonder about your journalistic neutrality. But the article you write today is neutral and shows that maybe you had read about my concerns. Thank you for putting this out there!
I hope you see the power you have to hype and over-sell. I am glad that you co-authored this piece. So let's take a looksie at what is going on...From the article
Over the last six months, New York State's Department of Health has sent letters raising the specter of fines and jail time to six online gene-testing firms that offer consumers the ability to peer into their genome to assess their future risk of getting diseases such as cancer, heart disease and multiple sclerosis. Often, it turns out, the services offering these DNA deep-dives are doing so without the involvement of a doctor. That puts them on the wrong side of the law.
The Sherpa warned them of that back in 2007. In fact I worried that these authors articles may have encouraged the companies to sell and consumers to do the deep dives!
Targets in New York's letter-writing campaign include the high-profile 23andMe, in Mountain View, Calif, (run by the wife of Google (nasdaq: GOOG - news - people ) co-founder Sergey Brin) and Navigenics, of Redwood Shores, Calif., as well as their publicly traded partners Illumina (nasdaq: ILMN - news - people ) and Affymetrix (nasdaq: AFFX - news - people ). The letters say the companies cannot perform their gene scans on New York residents without a permit. Warning letters to three more online gene-scanning firms are due to go out soon, New York says.
It seems regulations are going to be enforced. How? To Whom?
I have the litmus test for these regulations. I really wish, that rather than speak ill of me at open bar cocktail parties, these companies would have sought me out to speak about how we could do this the right way. I admire all of you (corporate genomics founders) for risking and bringing this to the forefront.....But, you all did it the wrong way. You trumped geneticists, you trumped physicians, you tried to play doctor!
And now you are going to feel the heat. Even though Spitzer is not around anymore....New Yorkers do not screw around when it comes to this!
So I ask my readers..."Why didn't these companies come seek the Sherpa's path?"
I think it is because of greed. Or perhaps the arrogance that only millions of dollars and a nice spot in SF can buy you. Well...we will recover from your follies....Back in New York we already are. And by the way, You need CLIA and NYS approval to test in New York.....D'Oh..
Or perhaps some sorry legal team gave them poor advice. You should have used my team, they knew.
Complicating matters is the fact many online gene testers, including 23andMe and Navigenics, don't actually perform the scans themselves; they are simply Web portals that disclose the results of tests performed by contract labs. "There are very few federal regulations in this area," says Elliott Stein, an attorney who represents gene-tester HairDx, which just received a letter from New York. "Unfortunately for these companies, they've got to deal with the regulations in each and every state, and often that is a judgment call."
Or maybe they thought...."Hey, after all...this is only recreational"
"Frankly, it blows my mind that someone would be saying that looking at whether you are going to get multiple sclerosis is recreational," says a New York official who spoke on condition of anonymity. The official says New York is not about to shut the services down but, "we would refer them to the attorney general's office" if they continue to operate in violation of the law.This IS the practice of medicine, your tests are diagnosing predisease. Even if they are "low penetrance" gene SNPs. All three should never have posted health related information, unless they were prepared to practice medicine.
Simple enough. Now that you have taken your lumps, please give me a call so we can move forward in the right direction. DNADirect is moving that way and we welcome that. I hope we all can evaluate the literature in a transparent way. EGAPP is working on it and so are we at DVPMP. I hope this DNA Perspectives will help as well....Navigenics is moving this way too. So please listen, transparency is key to trust. Many are going to begin to distrust if you don't stick to this....
Now your basecamp is coming after these companies too...
California health regulators are also investigating 12 complaints from the public about certain online gene testers. California won't name the targeted companies, but notes that in the state "all genetic tests must be ordered by a licensed physician." Overall, 24 states prohibit or limit so-called direct-access testing without a doctor or other medical professional's involvement, according to a 2007 survey by Johns Hopkins University's Genetics & Public Policy Center.
I had posted on this too. Hopkins delineates this very nicely!
So Corporate Genomics........the ball is in your court. I await your calls. And if you don't want to call me...I have some other interested medical geneticists who would love to help....
The Sherpa Says:
There are several solutions to all of these issues. All of them flow through licensed physicians and medical care. Trust me....I am starting to feel like Cassandra at least towards these CEOs! For the consumers, fear not. We will get physicians and other healthcare providers up to speed. I promise. Until then, call me.
Wednesday, April 16, 2008
So is it really over-regulation? Or is it just calling some 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?
Tuesday, April 15, 2008
Why all the worry over regulations?
Monday, April 14, 2008
The Senate may consider the Genetic Information Nondiscrimination Act (GINA) as early as the week of April 14th! This legislation provides fundamental protections against the misuse of genetic information in health insurance and employment decisions.
We need your support to make sure GINA is successful.
Please take 5 minutes or less to make the following 3 phone calls.
Sample script "My name is (YOUR NAME) and I am a constituent of (NAME OF SENATOR). I am calling to ask for (NAME OF SENATOR).s support for the Genetic Information Nondiscrimination Act, or GINA, and all the procedural motions needed to support this legislation. This legislation provides fundamental protections against the misuse of genetic information in health insurance and employment decisions. It is vital for all Americans to have these basic protections. Thank you!"
Thank you for your support,
Joann A. Boughman, Ph.D.Executive Vice PresidentAmerican Society of Human Genetics
Posted by Steve Murphy MD at 11:34 AM
I haven't talked about him in a while. But I remember when I was a medical student rotating in genetics at Yale. Tom was literally running around talking about how great SNPs were and how they hold the potential to help define heart disease risk. He was so animated that I quickly jumped on board as a resident. I pulled up Newsweek and guess what....Tom the super excited about SNPs and Genomic Medicine Doctor
From Newsweek ....But we already know where Newsweek stands on this.
Dr. Thomas Morgan, of the Washington University School of Medicine in St. Louis, worries that the business is getting ahead of the science. While researchers have clearly identified a chromosomal region linked to heart attack, for example, no single gene—including some being analyzed by DTC companies—stands out as the smoking gun. And undiscovered genes may turn out to be major risk factors. The result, says Morgan: "I might scare myself or reassure myself falsely based on the very limited knowledge that we have."
Wow!!! That's right. Tom is on the same page as the entirety of the field of genetics!
Does that mean this testing is worthless. Absolutely not....when viewed in the light of an appropriate medical and family history.
Also today I want to highlight how quick information in this field travels. I was recent speaking with a member of CorbettAccel and we chatted about marketing and communication. I told them that guerrilla works best....believe it or not. Speaking of Guerrilla........
You should check out news.thinkgene.com Berci spoke about them earlier last week and I wanted to let you know they are out of beta. Good Luck Guys.....this field moves at light speed. BTW you should check out the founder's blog as well.
The Sherpa Says: "Market Share doesn't wait for the evidence"....which is precisely why we set up shop in 2007! I hope other brick and mortar personalized medicine practices jump up soon. I look forward to helping them with the nuances of growing a practice while delivering the best care available. As the say....imitation is the highest form of compliment.
Sunday, April 13, 2008
I mention this because I just finished my manuscript for The Journal entitled Personalized Medicine. This is an excellent journal with a tremendous potential. I recently published here and intend to send a significant amount of my work its way. But what is most important about these journals, Pharmacogenomics and Personalized Medicine, is that they are giving an opportunity for younger scientists, physicians and stake holders a voice.
I have recently begun to realize the potential of pairing patient centered care with genomic medicine. By putting these two ideas together....we may have a winner. I think that these two parallel ideals may actually be synergistic. Put plainly, moving the care in a patient centered way that DOES NOT REMOVE the healthcare practitioner, but places them as the coach, enables patients to make better choices by understanding their genomic risk. First by taking a family history and secondly by using appropriate genetic testing. Just like Muin said.
Even if that regulatory hurdle had been cleared, Ms. DuRoss said she doubted that the company would have invited customers to provide saliva samples on the spot. “It’s a little awkward to ask people to spit in public,” Ms. DuRoss said. “It’s a very private thing.”
Woah!!! We (Navigenics) are classy and tactful, You (23andME) are classless. That's what it sounds like to me ;)
The Sherpa Says:
When my next article is published I will let you know. I hope it serves as a good compass. Speaking of compass, take a looksie at Daniel's post at Genetic Future....he seems to think these big corporate genomic companies will be fighting each other for quite some time....He may be right. Maybe they could read my article? Then they would realize what they needed to do. Differentiating themselves is definitely a start.