Our new paper was just published in the special edition of New Biotechnology. This is a review with the title: “The triad of success in personalised medicine: pharmacogenomics, biotechnology and regulatory issues from a Central European perspective“. An excerpt from the abstract:
We also present the state of the biotechnology market from a European perspective, discuss how spin-offs leverage the power of genomic technologies and describe how they might contribute to personalised medicine.
As ethical, legal and social issues are essential in the area of genomics, we analysed these aspects and present here the European situation with a special focus on Hungary.
We propose that the synergy of these three issues: pharmacogenomics, biotechnology and regulatory issues should be considered a triad necessary to succeed in personalised medicine.
The third edition of The Case for Personalized Medicine (PDF) was released a week ago and I had a chance to do an interview with Edward Abrahams, Ph.D. of the Personalized Medicine Coalition. The new edition is a primer that highlights the progress in the field of personalized medicine for policymakers, researchers, and business leaders.
- How many prominent examples of personalized medicine might we have next year?
It’s impossible for us to know how many prominent examples of personalized medicine products will be available a year from now, but we project that the rapid acceleration in the number of new products coming onto the market will continue. When we published the first edition of The Case for Personalized Medicine in 2006 – there were only 13 available products; when we published the second edition in 2009, there were 37 products available, and now, in 2011, there are 72.
- Sometimes lecturers use two numbers: 7 billion and 3 billion referring to the mass sequencing of everyone’s DNA in the world. When could it happen, what is your estimation?
We understand there to be 3 billion SNPs.
- It seems now from gene expression profiling we are moving towards RNA sequencing and next generation sequencing. What do you think is the next trend in research?
Both research and clinical care will benefit as the cost of whole genome sequencing declines at a rate dramatically more quickly than Moore’s Law would predict inching towards the $1,000 mark. The $1,000 price point is critical because it will make whole genome sequencing comparable in cost to existing medical tests thereby opening up new opportunities for researchers to understand the genetic underpinnings of wellness and disease and providing clinicians with a valuable tool for assessing patient health.
- It is often written by economists that while personalized medicine costs more, it is more cost-efficient. How can we find the balance between having a well designed personalized medicine concept in healthcare and checking everyone’s samples for random biomarkers?
This is a good question. Evidence is needed to show the clinical and economic utility of anything that becomes part of the standard of care. But personalized medicine will be most successful where it makes health care more efficient by enabling the matching of treatment to patient to maximize therapeutic benefits and reduce adverse events, not where it imposes a new one-size-fits-all guideline on physicians to test the entire population for a random biomarker.
- What are the goals and planned activities of the Personalized Medicine Coalition for the next few years?
The Personalized Medicine Coalition is an education and advocacy organization comprising more than 200 member institutions. In keeping with our educational mission, we will plan conferences and develop new documents along the lines of The Case for Personalized Medicine to educate policymakers, business leaders, and others needing to understand personalized medicine and the opportunities it offers to improve patient care while making the health care system more efficient. We will also work with our members to understand and remove barriers to personalized medicine by advocating for changes to health care policy in the United States and around the world.
My old friend, Steve Murphy, MD shared a recent USA Today article with me in which he is also featured. A few excerpts:
“The majority of people we see have a very strong family history of X, Y or Z disease,” says Murphy, who’ll be 34 this week. He doesn’t bring up genetic testing until after taking a detailed personal and family medical history and assessing such risk factors as cholesterol and blood pressure. “I tell them there are lots of ways to dig deeper. Then I also tell them the limitations.”
On the other hand, Topol says, doctors have ordered 250,000 $100 tests for a gene called KIF6, tests that were aggressively marketed. One KIF6 variation was thought to raise heart disease risk by up to 55%, but, Topol says, a study this month in the Journal of the American College of Cardiology shot that down.
It’s spectacular how fast this industry is changing. One example is Diagenic which offers peripheral blood-based diagnostic tests for breast cancer or Alzheimer’s disease (though it’s gene expression based). And now Medgadget reported about a new solution designed by Progenika BioPharma for Familial Lipoprotein Lipase Deficiency.
In collaboration with AMT, Progenika Biopharma has developed the LPLchip which detects mutations in the LPL gene, and has now received CE approval.
The chip can detect 120 different mutations in a sample of blood or saliva, enabling identification of patients who may benefit from gene therapy. So far, the picture for Glybera is looking good, with three studies showing a decrease in the incidence of pancreatitis, one of the most important complications of LPLD, in patients undergoing treatment. Expect to hear more about this in the future.
At this year’s Researchers’ Night, I talked about genomic medicine and I described the future of healthcare which would be personalized-centric and I said this era would come in around 10 years. It seems I was wrong and this transition will be much faster.
Using whole genome sequencing in diagnostics has been an issue for years, and as the cost of sequencing is rapidly declining, it seems it can pave the way for personalized medicine. A new research published in Genome Biology, Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors, just proves this point:
Adenocarcinomas of the tongue are rare and represent the minority (20 to 25%) of salivary gland tumors affecting the tongue. We investigated the utility of massively parallel sequencing to characterize an adenocarcinoma of the tongue, before and after treatment.
We conclude that complete genomic characterization of a rare tumor has the potential to aid in clinical decision making and identifying therapeutic approaches where no established treatment protocols exist. These results also provide direct in vivo genomic evidence for mutational evolution within a tumor under drug selection and potential mechanisms of drug resistance accrual.
There are 4 articles focusing on personalized medicine I would like to share with you today.
Personal Genotyping Course Progress Report
At the Stanford School of Medicine’s Scope blog, Lia Steakley recounts student participation in the school’s summer elective course that offered the physicians-in-training the option to study their own genotype data. “Overall, 33 students in the class of 60 … opted for personal genotyping. Ten others analyzed their genetic background using commercial services before the class,” Steakley reports, adding that a Stanford task force will deliberate to determine whether to offer the course again. Our sister publication Genome Technology spoke with Stuart Kim, one of the course organizers, and professors at other medical schools who’ve incorporated genotyping components into classes they offer for its September issue.
Focus on biomedical art
Despite continued doubts about the clinical utility of direct-to-consumer genetic tests, tens of thousands of people have sent away tubes full of their saliva to learn more about their genetic profiles. Armed with such DNA data, a number of early adopters are showing how empowering—and beneficial to science—personal genetic information can be. Elie Dolgin reports on one company’s plans to make medical genetics more participatory.
Next Generation Sequencing viewers reviewed
I gathered up some of the recent free next generation sequence viewers that were capabale of viewing BAM files – and put each through the motions with a few BAM files and reference sequences of various sizes. While there are some great ideas and several choices to be found along the feature spectrum, I think we are still in the dark ages with this stuff. No viewer has really been able to entirely combine usability with performance and analysis capabilities, let alone extensibility and web connectivity.
When preparing for this year’s Researchers’ Night (details below), I was trying to collect some information and updates about the consumer genomics market for my presentation and found great slideshows. Enjoy!
If you thought that research was all about lab coats and Bunsen burners, think again. Like everyone else, researchers come from numerous backgrounds, have diverse interests and pursue a spectrum of hopes and dreams.
One thing they all have in common is a passion for research – and they want to share it with you. The European Commission’s ‘Researchers in Europe’ (RIE) initiative allows citizens to get closer to our researchers and gives a face to European research.
- DNA As Crystal Ball: Buyer Beware (Newsweek): A genome-wide association study identified a new gene variant associated with Alzheimer’s disease but it turned out clinically it’s not useful.
“Adding these genes to traditional risk factors, such as age and sex, does nothing to aid prediction” of whether someone will develop Alzheimer’s, she told me. “Knowing your genetic status will not help. We may still be in the Stone Age when it comes to gene-based prediction.”
The United States House of Representatives Committee on Energy and Commerce today launched an investigation into direct-to-consumer (DTC) genetic testing, sending letters to three prominent DTC companies: 23andMe, Pathway Genomics and Navigenics.
- 23andme: A detailed review of the data the blogger just received from 23andMe.
The family said they received no medical counseling here and are making their own conclusions. One comment made is that the parents stated they will probably be using more pharmaceuticals, interesting.
A patient analyzes her own 23andMe data:
I’ve been writing about personal genomics for years. The standard concept of it is that you can order such genetic tests online, send your saliva or buccal swab to the lab where they analyze your DNA, then you can check online what kind of diseases you have elevated or lowered risk for. That’s how Navigenics, 23andMe or Pathway Genomics works. Now Pathway had a major announcement:
San Diego based startup Pathway Genomics announced today that it will begin selling its DNA collection kits at Walgreens drugstores beginning in mid-May, for about $20 to $30. Unlike a pregnancy test, users won’t be able to get results immediately. They will have to send in their saliva sample and then go to Pathway’s website to select the particular test they want. Users choose from drug response ($79), which assesses how well an individual can metabolize certain drugs, predicting the best dosage for that person or whether they will be susceptible to certain side effects; pre-pregnancy planning ($179), which determines whether parents carry mutations for serious genetic diseases; health conditions ($179), which assesses risk for a number of conditions, including diabetes, Alzheimer’s, prostate cancer and more; or a combination of all three ($249). The kits won’t be sold in New York because the state’s laws require medical professionals to be involved in this type of testing.
As you may know, I’m not totally against direct-to-consumer genetic testing, but I really would like to see doctors and genetic counselors in this process. I think selling such kits through drugstores can only happen in the US right now.
Well the Genomics Law Report blog has an extended and very detailed review about this important topic. An excerpt:
What has changed is their visibility. It is just possible that one of the safest strategies for avoiding regulation – out-of-sight, out-of-mind – played a significant role in the regulation (or lack thereof) of DTC genetic testing. Tests once predominantly available only to early adopters capable of seeking them out online will now begin to appear on the shelves of thousands of neighborhood drugstores nationwide. To a greater degree than ever before, genetic testing will soon be available to mainstream America (and subject to the impulse buy). And that, for better or for worse, may be all that it takes to convince some regulators that the time for action is finally at hand.