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Posts from the ‘Policy and Law’ Category

Apr 18

6 Comments

Personalized Genetics: Are we ready?

As me and others have already stated for several times before, we are not. It was so good to read the opinion of Joel Burrill as I felt like we’re on the right way. Some excerpts from the interview made by Wired:

Currently there are some major barriers that need attention before companies like 23andMe will be incredibly successful. An incredibly steep barrier that needs immediate attention is the education of doctors. For doctors to actually use this type of information they need to understand the concepts and the principles that are at the heart of this type of technology, but currently the amount of education they receive in medical school is slim to none.

As for the nature of predictive medicine and companies that will offer predictive tests, I think it is a good idea, but there is going to be a gap between the patient and the doctor if these companies are marketed directly to the patient. If they are marketed to the patient, then the doctor will 1) have no knowledge of the outcome of the test, 2) have no basis to make any decisions off of other than the word of the patient and 3) no medical basis for prescribing medication.

In Hungary, medical education consists of 6 years and we have to study genetics for only 6 months (!). While the majority of the medical conditions we learn about have genetic basis, they try to introduce us to the world of genetics and genomics in just 6 months… How is the genetic education at your university or your clinic?

One of the best genetic bloggers out there these days is probably Daniel Macarthur at Genetic Future, who always comes up with some interesting posts and raises some important points:

However, the Navigenics model is also deeply regressive:… Where 23andMe talks about guiding customers through their own journey of genetic discovery, Navigenics appears to be more about giving clients the information that Navigenics thinks is medically relevant, and protecting them from all the non-essential details that might overwhelm or confuse them.

Los Angeles Times published this fascinating article, Genome scans go deep into your DNA:

Some researchers say it’s unclear whether people will understand the genetic risk data and what they will do with it. Is this just a bit of harmless fun? Will it improve long-term health outcomes? Or will hypochondriacal patients march to their doctors and demand truckloads of unnecessary tests, harming themselves and the healthcare bottom line — while others incorrectly see their results as destiny and adopt worse lifestyle habits?

At last, but not least, have you recognized that the genome of Watson was sequenced at high speed? As a commenter expressed, I guess this DNA sequencing paper would be rejected right away by Nature if it is not on DNA of James Watson. However, in today’s science, it is not the KNOWLEDGE but the SUBJECT that matters most in weighing the “significance” of a manuscript for publication.

So some major points for today:

  • education of medical professionals about personalized genetics should get a much bigger attention
  • closing the gap between patients and doctors in the aspect of analyzing genetic data is becoming important
  • have to be cautious with these new genetic companies and we should avoid “overhyping” their importance
  • papers should focus on the scientific value of the articles as selling the papers should not be the #1 objective for them

Stay tuned for more about individualized genetics.

Mar 31

16 Comments

What you have to know about personalized genetics

Genes load the gun. Lifestyle pulls the trigger.

By Dr. Elliot Joslin

I’ve written at least a hundred times about personalized medicine so it’s the perfect time to come up with a short description of what individualized medicine is about. In this new world of medicine, you get a treatment that is not only based on the epidemiological data of your population, but your own genetic background. But let’s start with a more appropriate definition:

Personalized medicine is use of information and data from a patient’s genotype, level of gene expression and/or other clinical information to stratify disease, select a medication, provide a therapy, or initiate a preventative measure that is particularly suited to that patient at the time of administration. Personalized medicine makes it possible to give: “the appropriate drug, at the appropriate dose, to the appropriate patient, at the appropriate time”. The benefits of this approach are in its accuracy, efficacy, safety and speed.

All right, here is an even shorter one.

…turning genetic variations associated with population-level risks of disease into medically advice useful for a single person sitting in an exam room.

We can also watch it on video:

Who are the key players?

23andMe: Single Nucleotide Polymorphism and genealogy analysis for 1000$. Check out my review or the demo account I created.

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Knome: Whole-genome sequencing for 350,000$. Check out my review.

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Navigenics: Will launch the service in days. My review is here.
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Helix Health: A New York company founded by our gene sherpa, Steve Murphy, who answered my questions some months ago. Helix Health focuses on the family history of the patient and their genetic background as well. Genetic counselors discuss the disease-specific risks with the patients.

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DecodeMe: It analyzes over one million variants in our genomes; calculates genetic risk for 23 diseases and finds our ancestors for $985.

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Who and what do stand behind the whole concept?

Archon X PRIZE for Genomics: The $10 million X PRIZE for Genomics prize purse will be awarded to the first Team that can build a device and use it to sequence 100 human genomes within 10 days or less, with an accuracy of no more than one error in every 100,000 bases sequenced, with sequences accurately covering at least 98% of the genome, and at a recurring cost of no more than $10,000 per genome.

The aim is the 1000$ genome.

Craig Venter’s genome that was published in September, 2007.

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Who and what should you follow to know everything about personalized medicine?

Mar 15

29 Comments

Dangers of Web 2.0: In Medicine

I’ve written more than 200 posts about web 2.0 and medicine, but I almost never focus on the dangers web 2.0 can cause to medical professionals and patients. The first time I talked about this important subject was at the School of Medicine, at Yale. And they liked it. So let’s see what kind of problems, dangers we have to face while using web 2.0 in medicine and the tools we have to fight against these with.

Medical Blogosphere:

The Healthcare Blogger Code of Ethics was designed in response to problems experienced by medical bloggers. The goal of this code is twofold

  1. To give the readers of a medical blogger a clear idea of the standards by which the blog is maintained.
  2. To give bloggers (especially anonymous ones) a clear set of guidelines they can show employers, patients, or other concerned parties as to the nature of the blogging.

Since healthcare blogging is sometimes dealing with extremely sensitive information, it is extremely important that these blogs maintain the highest of integrity.Member

Health On the Net Foundation is the leading organization promoting and guiding the deployment of useful and reliable online medical and health information, and its appropriate and efficient use. Created in 1995, HON is a non-profit, non-governmental organization, accredited to the Economic and Social Council of the United Nations.

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Physicians must assure that the case report does not contain any of the 18 health information identifiers noted in the HIPAA regulations, unless authorization from the individual (s) has been obtained. The authorization is not required if neither of the 18 identifiers below are used in the case report.

Medical Wikis:

  • Wikipedia: We, medical editors in Wikipedia, work hard to ensure the quality of our articles. We only focus on inserting proper peer-reviewed references into our medical articles. In this post, I mentioned plenty of projects and tools with which we fight against false medical information in the online encyclopaedia.

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AskDrWiki.com users must be credentialed based on their medical training before they are allowed to publish. All new users will be required to submit their medical training, degree, and current hospital or medical school. All credentialed users will be listed on the editorial board and are encouraged to publish their resume or curriculum vitae stating their education, medical training, board certification, and research. This process will remove the transparency of anonymous article creation and provide an extra level or credibility.

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Second Life, the virtual world:

I’m currently working on a page that would be totally dedicated to the credentials of the members of the Ann Myers Medical Center. If you see a medical project in Second Life or you meet doctors there, always ask them to provide some credentials.

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Medical Cases:

If you would like to analyze medical cases, use peer-reviewed sources like the one at Clinical Cases and Images.

Medical Search Engines:

Search engines (like Google or Yahoo) don’t select among sources, that’s why many of the medical search results can’t be relevant. But medical search engines use peer-reviewed sources and sites selected by experts providing the most relevant and reliable medical information of the best quality. Check out Healthline or MedHunt!

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Conclusion:

I’m pretty sure the only way we can fight against pseudoscience and medical quackery is to take control of publishing medical information of the web. And by using these tools to ensure the quality of medical articles and blogs on the web, medical professionals can also build their online reputation.

Please let me know if you happen to know other tools or dangers!

Further reading:

Feb 26

29 Comments

Grand Rounds 4.22: The Future of Medicine

It’s a great pleasure for me to host Grand Rounds again after almost a year. The idea of Nick Genes shines more than ever so I hope I can show you plenty of useful and valuable submissions from the medical blogosphere. So this time, the topic is the future of medicine which means I’ll feature some blogposts about genetics and web 2.0 as medicine might be centered around these two terms in the future. Enjoy it!

Editor’s Choice (Genetics or Web 2.0):

Karina S. Descartin at The story of healing talked about Jay Parkinson, the web-savvy doctor and use of media in medicine.

At Scienceroll, I had an interview with Jay Parkinson, or if you would like to know more about web 2.0 and medicine, check out my recently published slideshow.

Joshua Schwimmer at Tech Medicine featured the impact of Google Book Search on medical education. At Efficient, MD (one of his 4 blogs), you can also send him your productivity tips for being on call.

Y. S. at My MD Journey gave all medical students the opportunity to promote their blogs by taking an interview.

Hsien-Hsien Lei at Eye on DNA examined the genetic differences between identical twins.

Paul Levy at Running a Hospital thinks the future of medicine in the UK should utilize the opportunities Second Life provides.

Steven F. Palter at Docinthemachine weighs in with How Smartdust, Souveillance, Web 3.0, and Personalized Genetics Will Transform the Future of Medical Diagnostics.

Steve Murphy at The Gene Sherpa talked about the fear of genetic discrimination.

John Sharp at eHealth found a new way to promote patient safety – talk to your doctor.

Imre Kissík and András Székely at Tomography Blog promoted 10 great Web 2.0 tools for Diagnostic Imaging Professionals.

Hamza Emadeen M. at GooMedic introduced web 2.0 as a research tool for collaborative softwares.

Bob Coffield at Health Care Law Blog mentioned the Google Health project as Google Partnered with Cleveland Clinic.

The Digital Pathology Blog says computer programs may help physicians avoid diagnostic mistakes — so why aren’t more doctors using them?

Abel Pharmboy at Terra Sigillata blogged live about a vasectomy from his Palm Treo 700. More than interesting!

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Health and Healthcare:

David C. Harlow at HealthBlawg focused on preventing, reporting and not paying for hospital-acquired infections.

Sam Solomon at Canadian Medicine asked the question why the media mucks up health coverage? and presented “Canada’s Terry Schiavo” case.

David E. Williams at Health Business Blog is curious about how much we should expect from patients.

Louise at Colorado Health Insurance Insider wrote: “A list of eight preventable medical errors that result in extra medical charges will no longer be reimbursed by Medicare”.

According to Clinical Cases and Images, if you keep residents happy, it is better for patients.

Laurie Edwards at A Chronic Dose had a recent issue with her health insurance to explore preventative health and offer resources to think critically about the future of healthcare.

Michael C Hébert at Dr. Hébert’s Medical Gumbo pointed out the problem with Economics Stimulus Package is that, like taking antibiotics for a cold, it fails to properly address the problem.

Jan Gurley at Black Future Month stated that it’s a call for investing in a long-term, detailed cohort study of African Americans, like the Framingham study.

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Medical Stories and Cases:

ER nurse tells us what it is like to start the day two nurses short.

Bongi at Other things amanzi shared a monstrous story with us; two experiences he had, both of which he found disturbin.

Keith at Digital Doorway helps us how to talk to a patient who is scared to die.

Doctor Anonymous described his own flu and the Flu Epidemic as well.

Thomas Robey at Medscape told us his first experience losing a patient after an attempt at resuscitation. He had another post mentioning some personal experiences with drug reps he has had as a medical student.

Paul S. Auerbach at Medicine for the Outdoors posted the second story about his recent volunteer work in Guatemala.

MC at Neurophilosophy introduced the man who never forgets. Check out the trailer of a forthcoming documentary focusing on him called Unforgettable:

Medical Research and Information:

Amy Tenderich at Diabetes Mine had a great list about 10 little-known facts about your immune system.

How to Cope With Pain reviewed what we know about chronic itch, an interesting symptom.

David Rothman shared the Human Brain Atlas, a useful educational resource with us.

Walter Jessen at Highlight Health presented ScienceCures, a new website dedicated to today’s science, tomorrow’s cures.

Kerri Morrone at SixUntilMe had plenty to say about the MiniLink trial. That’s how an honest opinion can be valuable to the community.

Matthew Mintz at Dr. Mintz’ Blog had a comment on an article that appeared in the Washington Post about studies of treatments.

Henry Stern at InsureBlog informed us about Swedish scientists who discovered fast food and the lack of exercise are not healthy.

Clinical Cases and Images presents all the 3 “organ”-renal syndromes.

Exhaled nitric oxide (FeNO) could be a marker of bronchial inflammation? Check it out at Allergy Notes.

JC Jones at Healthline Connects says there is something we can all agree on – New Stem Cell Source.

The editors of LymeHealth.com talked about the Rife frequencies for treatment of Bartonella infection. Rife treatment is used by some Lyme disease patients who are coinfected with a species of Bartonella.

Medical research in a different way:

Other posts from the blogosphere: interesting surveys, interviews, speeches:

Vitum Medicinus, a Canadian medical student, shares a speech he gave to the families of his anatomy lab cadavers at a memorial service for body donors.

The bloggers at SharpBrains have come up with three interesting articles: Minding the Aging Brain and Maximize the Cognitive Value of Your Mental Workout and Self-Regulation and Barkley’s Theory of ADHD.

Barbara Kivowitz at In Sickness and In Health examines a strange question: Are Certain Illnesses More Likely to Lead to Divorce?

Kenneth F Trofatter at Fruit of the Womb addresses a query from a reader who wonders if abnormal sperm morphology, in the absence of other maternal or paternal indicators, might be associated with recurrent early pregnancy loss.

At Dailyinterview.net you can read more about Dr. Silly Reba (AKA Reba Strong) – Hospital Clown and Magician.

The Samurai Radiologist at Not Totally Rad gave us some tips on how to surprise your loved one: with a skull.

David Bradley at ScienceBase is curious whether our doctor inhales or not. “A survey of medical students in Brazil found that more than 80% use alcohol, while cannabis use is limited to about one in four, a quarter use solvents and just over 25% use tobacco.”

Christine at ButYouDontLookSick.com interviewed Nick Genes about Grand rounds and his medical career.

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That’s all for now. I always enjoy hosting Grand Rounds because I come across new blogs and make contact with great medical bloggers. Thank you, Nick Genes, for giving me the opportunity again. I hope to host a third one in 2009. The next edition will be hosted by ChronicBabe on the 4th of March.

Feb 24

4 Comments

Personal Health Records: Keyose is the Solution!

Personalized medicine/genetics can’t live and rise without online personal health records. Of course, it’s one of the most dangerous fields of web and medicine as we obviously don’t want anyone to steal our medical records. Even if I think people wants to steal our money more so they are interested more in our online bank accounts than our medical ones.

There were so many discussions (Constructive Medicine; bbgm) about how to create an online site where we could store our medical records which means we should’t take all of our medical data with us when visiting our doctor. We or our physician just log into the site and check our records.

Now through the comment of Dr. Julio Bonis, I came across Keyose, the easiest and safest way to get your personal health data on real-time worldwide. You get your own ID, so you don’t have to give your real name, neither your e-mail address. The designer was the doctor who described the first case of Wiiitis. The philosophy is totally based on anonymous users.

As they do not collect personal data, therefore the confidentiality is guaranteed. You can also print your health card:

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This is a good start. Follow their blog! I’ve already signed up.

Feb 16

16 Comments

Web 2.0 and Medicine: The Slideshow

I finally uploaded the slideshow I presented at the Medicine Meets Vitual Reality conference in Long Beach; at the University of Yale and at the hospital of Greenwich. I talked about how to build an online reputation for a medical practice or a research, but as I gave these slideshows in person, I couldn’t include all the texts in the slides. I plan to record the oral part of the presentation as well. Feel free to give me any kind of feedback!

[splashcast MPWF5381CE]

Nov 30

6 Comments

Knome: The Review

As today is the day when Knome launches the first commercial whole-genome sequencing and analysis service for individuals, I thought it’s time to write the review about them. If you want to read the review about 23andMe, Navigenics or Helix Health, check out this post.

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Website:

  • Design: Too simplified. It looks like the site of 23andMe in the old days, so I’m pretty sure it’ll change a lot soon.

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  • Informativeness: An About me page that mentions the founders; and a FAQ page that aims to answer all the important questions. Anyway, they fail to mention the details of their “comprehensive” analysis and the other team members like clinicians or geneticists. They don’t tell us how they predict disease-associated risks neither.
  • Team: The main advisor is unquestionably the best in the field of personalized genetics: George Church, the Professor of Genetics at Harvard Medical School. He is a good reason to choose Knome, but he also is an advisor for  23andMe.

Service:

  • Method: Whole-genome sequencing which means not only the essential SNPs (single nucleotide polymorphisms) will be analyzed, but the whole genetic code of an individual. Though, only the first 20 clients will have this historic opportunity. In my humble opinion, it’s too brave to say that in this period of research:

Whole-genome sequencing allows for the analysis of up to 2,000 common and rare conditions, and over 20,000 genes – numbers that are rapidly growing.

“Whole-genome sequencing is the endgame. It will enable us to look at nearly 100% of your genetic code compared to the less than 0.02% currently available on SNP chips. This is the approach that most fully reveals what our genomes can tell us about ourselves.”

  • Cost: The service will start at $350,000, including whole-genome sequencing and an analysis from a team of geneticists, clinicians and bioinformaticians who will also provide continued support and counseling.
  • Target, Research: The medical conditions they plan to analyze are not specified. Regarding research:

Another complementary mission of Knome is to provide researchers with access to sequenced whole genomes in order to enable Genome Wide Association Studies (GWAS). We believe that approaching interested individuals directly is the fastest way to create the critical data needed to make significant scientific breakthroughs. That is why we also offer each client the option of allowing researchers to have access to their anonymous sequenced genome. While we hope that a significant percentage of our customers will do so, it is not required.

Of course, it’s going to be the service of the richest people on Earth, but the 1000$ genome could also become reality maybe in the next year. I’m still skeptic as Knome doesn’t say a word about how they can connect the data of whole-genome sequencing to the future of my health.

Look, I’d be the happiest person in the world, if personalized genetics could be reached by anyone. Personalized genetics must be about science and not business. I couldn’t find a word mentioning the scientific background behind Knome or the scientific method they plan to work with.

At this time, it’s nearly impossible to tell specific disease-associated risks based on SNP analysis or even whole-genome sequencing. Let me know if I’m too skeptic.

Nov 25

6 Comments

BioMed Central launched a YouTube Channel

BioMed Central has recently made a big step towards web 2.0. The new YouTube Channel of Biomed Central is a perfect example which, I hope, will be followed by other open access journals as well. A screenshot from their blog:

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We aim to include as many videos as possible relating to BioMed Central, so if you have created a video about an article you have recently published, or on open access issues in general, please upload it to YouTube and send us the link so we can add it to the channel.

BioMed Central is an independent publishing house committed to providing immediate open access to peer-reviewed biomedical research.

All original research articles published by BioMed Central are made freely and permanently accessible online immediately upon publication. BioMed Central views open access to research as essential in order to ensure the rapid and efficient communication of research findings.

Do you happen to know other interesting, medicine/science-related YouTube channels?

Nov 19

3 Comments

Personalized Genetics: It has officially begun!

Do you think it’s enough to share some links about personalized genetics with you once a week? Of course, not! The live webcast of 23andMe finished some minutes ago which means I should write some thoughts on this.

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I had several questions answered including (their answer):

  • When do you plan to expand your service to Europe? (Later, later…)
  • How effective do you think your risk predictions are? (Just as much as current scientific research can be.)
  • Do you plan to help patients with genetic counseling? (Yes, through online tutorials, but not in person.)
  • Do you think your prediction models are well established? What can you tell your patient about his risk for obesity based only on one or just a few genes? (It seemed they didn’t accpet long questions.)

Check out the questions of Attila Csordás at Pimm. Attila had an other post about the subject as well: Genetics brings people together, rather than differentiate.

Steve Murphy, our gene sherpa, has been working really hard in the last few days:

Without further examination, the advice 23 and Me, Navigenics etc. are giving now is just plain useless. That is precisely why deCODE has stated that their test should not be used for medicine. Only healthcare practitioners trained in interpreting your data should be… Too bad there are only 100 geneticists who are trained in adult disease :( As for the disclaimer not to be used to diagnose or treat…last time I checked, I am ordering the same tests as 23andME to diagnose and treat! Maybe they should add a caveat “But to steal your genome” at the end.

Deepak Singh at BBGM posted some interesting videos, interviews about 23andMe’s privacy issues and many more.

Ricardo Vidal at My Biotech Life talks about the spitting business.

Thomas Goetz published some incredibly intersting material at Wired. The first article contains a timeline of the age of genome. He also had his genome analyzed by 23andMe and Navigenics with these results.

Nicholas Wade also expressed his opinion on the story in New York Times.

I’m thrilled by the power of 23andMe ( 23andMe for geneticists is something like Google for programmers), but I would love to watch some interviews taken with medical professionals of their company. Where are they? From this point of view, Helix Health seems to be a better option, although I think it’s still too early to launch a personalized genetic service. Not just the public, but even the scientific community doesn’t seem to be ready for this. We’ll see what happens…

Stay tuned!

Nov 18

9 Comments

23andMe: The Re-Review

A week ago, I wrote a review about the three major companies focusing on personalized genetics. That time, I couldn’t include all the required information in the section of 23andMe. Now, here is the re-review:

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Website:

  • Design: Great! Clear structure, big buttons, nice colors. That’s how it should look like because all the functions are easily accessible.

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  • Informativeness: I must say, nearly perfect. Own pages for experts and laypeople as well. Sections for the scientific and the medical communities. Tutorials, descriptions, explanations about the basic concepts of genetics and their service. Like David P. Hamilton noted that more information about genetic counseling would be needed.

Service:

  • Cost: Price per kit is $999 plus shipping.
  • Target: Breast Cancer, Crohn’s Disease, Heart Attack, Multiple Sclerosis, Obesity, Prostate Cancer, Restless Legs Syndrome, Diabetes Type 1 and 2, Venous Thromboembolism, Bitter Taste Perception, Earwax Type, Lactose Intolerance and Muscle Fiber and Sports. Read about the genetic associations here.
  • Media Coverage: BBGM, My Biotech Life and VentureBeat.

Just one more note about direct-to-consumer genetic testing:

Some argue it is too early to make personalized genetic information directly available to consumers, contending that the level of public understanding has not matured to the point that most people are able to understand their results, and that genetic associations discovered to-date have little actual significance.

23andMe believes people have the right to access their personal genetic information. Genetic information is a fundamental element of a person’s body, identity and individuality. As such, the rights that people enjoy with regard to financial, medical and other forms of personal information should apply to genetic information as well.

I’ve always been optimistic, but I don’t think the public is ready right now. Can you really tell the patient about his/her susceptibility to medical conditions? I’ve been working with COPD-related SNPs and there are plenty of SNPs that indicate a higher risk for COPD, there are others that indicate lower risk, and there are many more that we know nothing about. The only thing I can tell my patient is that based on the SNPs I analyzed, he/she has a risk regarding that specific condition, but that’s all. Forget about universal susceptibility rates! Is this information worth $999?

One example is the risk for obesity. They analyze a SNP of the gene FTO (rs3751812 – Nature article requires subscription). Maybe the reason is my lack of expertise, but can we tell the patient anything about the risk for obesity by analyzing one gene’s one SNP? Or do they make only one SNP public for business reasons? The answer of 23andMe would be most welcome!

I understand that they had to launch the service, but we’ll need years of research to make it really useful. Anyway, it’s very important to promote the work of the first personalized genetic companies including 23andMe as I believe, they hold the key to the future of medicine. What do yout think?

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