You may recall that in July we shared a video about Doctors 2.0 and You, a conference focused on how physicians are using web 2.0 technology.  Today we’d like to present a real-life example of this concept: Dr. Jim King, MSc, MD, FRCPC.  A pediatrician at the Children’s Hospital of Eastern Ontario (CHEO) in Ottawa, Dr. King runs a number of different clinics for rare diseases.  He also serves as the hospital’s Medical Director for Informatics.  Find out how he has used PatientsLikeMe as part of his practice and much more in our interview below.

1. How did PatientsLikeMe come to your attention?

We were doing a presentation a number of years ago, in 2006 I guess. We were talking about a number of things, but more specifically the use of mobile technology in healthcare and research as well as personal health records. So we were sort of working up some information and then we came across PatientsLikeMe. We were basically looking at some of the business models around personal health records, specifically around Microsoft Vault and Google Health and those things, and we thought PatientsLikeMe had a little bit of a different spin.

2. As a pediatrician, how have you used PatientsLikeMe?

I specifically used it in one of my clinics. I follow a number of teenagers that have orthostatic intolerance and also chronic fatigue and fibromyalgia and other conditions related to orthostatic intolerance. I get a lot of questions about different medications. The families are very well versed in information and are always looking for new sites to visit. So I will often direct them to PatientsLikeMe. You can find sites with support groups, but you never really know how many people are involved. Then people are going online and looking up things by themselves. But I felt that all the information being presented back through PatientsLikeMe was pretty good.

One example was a 16-year-old patient with fibromyalgia. Their family doctor had recommended she take gabapentin based on a news article. So in the past, and even currently, one of the ways I would look at this situation and get as much information as possible would be to go on sites like PubMed or Bandolier, the Oxford site in the UK, and try to pull together what worked and what didn’t work. Some of these sites are pretty good because often they will tell you what the positive outcome is. But one of the difficulties is that they don’t always tell you what the adverse affects are.

It was nice because I sat down with this patient and we pulled up PatientsLikeMe. And I think at that time there were a couple hundred patients that had been on gabapentin and the actual number that had side affects, I’m just recalling now from a few years ago, was equivalent or slightly greater than the amount who had actually benefited from the medication. So we made a decision at that time not to actually go on gabapentin. Instead, we tried some other things. It was very helpful in my daily stream of care to be able to do that.

3.  We have a large community of fibromyalgia and chronic fatigue syndrome (CFS) patients at PatientsLikeMe. What are some of the challenges for adolescents with these conditions?

There are multiple challenges. I think the first challenge is that it’s really an undefined condition. There isn’t a specific diagnostic test, so labeling is a bit of a challenge. Sometimes it takes time for people to understand the impact. And, it’s the same as any chronic illness that doesn’t have overt physical symptoms. You know, everyone looks normal but they feel terrible. When you’re feeling bad all the time physically, or a lot of the time physically, that can make you feel unwell mentally. So having a place where you can go to actually hear that and learn how other people are coping and dealing with it is a big benefit. It certainly shouldn’t hurt, right? And there can be some pretty positive effects from having a community as well.

We are making a diagnosis based on a constellation of symptoms so there are probably a lot of different disorders or a lot of different reasons why someone has a diagnosis of chronic fatigue. So because it’s such a heterogeneous group, there are going to be a lot of different management and therapeutic approaches. So, you really need a large number of people to start understanding what’s working and what’s not working. And again, compiling and pulling that information together is quite beneficial.

4.  Do you have any thoughts on how large online data sets at PatientsLikeMe or other websites could shape the future of healthcare?

You can’t manage what you can’t measure, right? That’s quite obvious. So, if we can do better measurements along knowing what your population is, but have something on what the actual outcomes are, that should be beneficial in the long run. It’s like anything. You have to know your population really well. And if you can define your population really well, then these large data sets, and I would say sites like PatientsLikeMe, can be quite powerful. It is a definite movement and force going forward, for sure. You need thoughtful stewardship for this, and you need a thoughtful ability to analyze the data and make clinical sense from it.

5.  Anything else you want to add about PatientsLikeMe?

For me, there are two other things.  First, the actual connections for people from sites like this are quite important – you know, the support group piece. And also you will have people with multiple problems and they may be doing something that seems to be a bit unique but is beneficial. Also, say you have a condition which is rare and there are only a couple of hundred cases in the world. You learn so much more when you start connecting and you find that maybe a problem, like fever, is a normal part of the illness and people just haven’t gotten together to figure it out. Being able to share that information relieves a lot of stress for families – we hate the unknown – and is quite powerful.

Second is the explosion in clinical information, especially the way things are going with genetics, molecular biology and bioinformatics. The ability to be diagnosed or know your risk and response to treatment with one or multiple diseases based on your genetic material is fantastic.  While there is tremendous potential, this is extremely complex and what we are going to see is that our phenotypes, our observable characteristics or traits, may or may not match our genotypes, the inherited instructions within our genetic code. I think sites that can link large groups are going to become more powerful.

So, as we are pulling all those things together, it will be important to have a source where you can actually be able to make sense of it and make it a lot easier to get some prognosis for guidance for people about what’s going to happen. Because a lot of times, you’re sort of in the dark with a lot of uncertainty for some conditions. So I think pulling that information together can be quite powerful and liberating.

“If you want to understand health, you have to understand what it means to be sick, at phenomic and molecular levels, so you can correct it in a holistic and effective way.”
– Jamie Heywood

In February, PatientsLikeMe Co-Founder and Chairman Jamie Heywood was invited to participate in a “Innovation Series” panel sponsored by the MIT Enterprise Forum of Cambridge.  Entitled The Future of the Personal Genome, the event focused on what lies ahead now that genome sequencing is becoming more affordable for the average person.  (It cost around a million dollars in 2007; today, it costs close to $1,000.)

What is Jamie’s perspective on personal genetics, including the issues and opportunities involved?  Check out the first seven minutes of the video below for an overview.  From there, the panel – which included Dr. Michael Pellini, Dr. George Church and Colin Hill, and was moderated by Dr. Kevin Davies – digs into the intricacies of this important topic, including how to use genetic data to develop more personalized medicine.

In August, we proudly announced that PatientsLikeMe Research Scientist Catherine Brownstein, PhD, MPH, had won a prestigious “Young Investigator Award” from the International Congress for Human Genetics (ICHG). As promised, here is Catherine’s first-person report from the conference, held October 11-15, 2011, in Montreal.

***********************************************************

The 12^th International Congress for Human Genetics (ICHG) was a fantastic learning experience with 7,200 geneticists, doctors and researchers in attendance – making it the largest ICHG ever.  The talks were of the highest quality, and the latest genetics research was presented and discussed.  It was an honor to give one of these presentations, since only 8% of those who applied were awarded the opportunity.

That brings me to the main purpose of this blog post: A big THANK YOU to the members of PatientsLikeMe. Your data made our presentation possible. I spoke about the ALS pilot program for genetics entry and search functionality, which allows ALS patients to enter their causative genetic mutations (such as SOD1 A4V, SOD1 D90A and VAPB P56S) and find others with the same genetics. It was a groundbreaking project, and we hope to implement it site-wide in the near future.

I also presented some of the key results from our recent survey on genetic testing:

• 16% of you have had some form of genetic testing.
• Of those who have been tested, 31% have had a direct-to-consumer genetic test.
• If cost were NOT a consideration, 83% of you would be at least moderately interested in getting a comprehensive personal genetic test.
• 68% of you said you would be at least moderately interested in finding others with the same genetics as you.

Thanks again for your participation in the survey, for being members of PatientsLikeMe and for sharing in our research efforts. I hope that next year I’ll be presenting PatientsLikeMe’s site-wide genetics functionality.

Earlier this year, the University of Arizona hosted a unique meeting for scientists, policy makers, and law experts to explore the legal, ethical, and policy implications of personalized medicine. The opening keynote was by Dr. Lee Hartwell, 2001 Nobel Prize recipient in Medicine / Physiology and Director of the Fred Hutchinson Cancer Research Center and he invited the audience to consider the role of patients in research. He stated that there was an “increasingly important role for patients in this process” and that scientists currently “rely on trial data, totally insufficient to the problem.”  Dr. Hartwell also stated that “when you talk to patients, they want to make a contribution. They would like their medical info made useful to other people. The only thing that keeps them from doing so is the threat of losing their life insurance or losing their job.” The views of pioneers such as Dr. Hartwell are important in medicine and it was energizing to hear such a well regarded figure espousing a philosophy with which we so strongly agree.

The lunchtime speaker was David Ewing Duncan, a journalist whose recent book “Experimental Man” detailed his journey to try and undergo every medical test available to science (including genetics, brain scans, and lab measures) in order to find out more about his health risks and how to live the best life possible. As the cost of genetic sequencing comes down to the mythical “$1,000 genome,” we may one day all take the same journey as Duncan to explore how much of our health outcomes are determined by data accessible to us right now. There will undoubtedly be ethical and moral conundrums along the way as genetic science moves from the specialist clinic to all of us as consumers, but ultimately understanding your own DNA is as much of a right as being able to look in the mirror.

Moving from genotype to phenotype, I gave a presentation in the afternoon about our work at PatientsLikeMe.  More specifically, I focused on how our platform allow patients with serious medical conditions to find out where they stand in the context of other patients like them, and how systems like ours might one day be able to help guide them to the most effective treatments to improve their outcomes.  Highlights from my presentation are now on our YouTube page.

PatientsLikeMe made the following announcement last night at the TEDMED conference.  For more on Jamie Heywood’s presentation, check out what people are saying on Twitter.

- – - – - – -

PATIENTSLIKEME ADDS ONLINE COMMUNITY FOR PEOPLE WITH CHRONIC FATIGUE SYNDROME
Researchers Use Open Medical Network to Measure Real-World Impact of XMRV Virus

Cambridge, MA–October 30, 2009–PatientsLikeMe (www.patientslikeme.com), the leading online community for people with life-changing conditions, announces the expansion of its fibromyalgia community to welcome patients with chronic fatigue syndrome (CFS), also know as myalgic encephalomyelitis (ME). By sharing information about their experience with CFS, patients can now find others just like them, including other patients who may have the newly discovered xenotropic murine leukemia virus-related virus (XMRV). The purpose of this expansion is for PatientsLikeMe to research the impact XMRV has on CFS patients.

“With 1 million patients diagnosed with CFS, and potentially 10 million Americans who could be infected with the XMRV virus, there is an unique opportunity to use the power of our open medical network to understand this illness and accelerate the validation and development of new biomarkers and treatments,” says Jamie Heywood, co-founder and chairman of PatientsLikeMe.

There are currently more than 7,000 patients, many who have CFS, in the PatientsLikeMe fibromyalgia community sharing meaningful data for researchers to analyze about the condition. As part of this expansion, the PatientsLikeMe platform will allow patients who test positive for XMRV to indicate that on their profiles, much how ALS and Parkinson’s patients can now add their genetic information.

Adds David S. Williams III, head of business development at PatientsLikeMe, “This discovery may spur research into the efficacy of anti-retrovirals for patients with CFS, which could have a dramatic impact on the $10 billion market for these medications.”

Heywood will announce the new CFS community on stage at the health technology conference TEDMED in San Diego, CA today. CFS marks the 17th condition available to patients on PatientsLikeMe, which now boasts more than 45,000 patients sharing health data on treatments, symptoms and outcomes. The company’s next community for people with epilepsy is scheduled to launch in early 2010. More about PatientsLikeMe partnerships can be found on its partner site: http://partners.patientslikeme.com.

# # #

Though documented as long ago as the early 1800s, medical breakthroughs in Parkinson’s disease research have been slow in coming.  That’s why PatientsLikeMe continues to get involved in the research process.  With our new genetics engine for Parkinson’s disease, patients now have a way to share information about their genetics and find others with the same genetics as them.  As part of our commitment to supporting genetics discovery, PatientsLikeMe recently partnered with 23andMe, aiding them in their research effort to get 10,000 Parkinson’s patients for a groundbreaking research study.

Most of the time, people don’t know what causes their Parkinson’s disease.  It could be due to genetic factors we haven’t identified yet, environmental exposures, or maybe even something else completely.  However, there are some known genetic causes of Parkinson’s disease. Sometimes different genetic mutations have different disease characteristics, so there’s some benefit to knowing what mutation you may have.  For example, different genetic mutations can result in an earlier or later onset for Parkinson’s disease, some have a milder or more severe disease course, and others have a higher or lower chance of dementia.  Knowing your genetic status could help you plan ahead, especially if you have a strong family history of the disease.

The 23andMe kit tests for one genetic mutation that can cause Parkinson’s disease – LRRK2 G2019S.  The chances of having this mutation vary with your ethnicity, and not everyone with the mutation will get Parkinson’s disease. However, some studies claim that LRRK2 G2019S is responsible for about 5-6% of all familial cases of Parkinson’s Disease and 1% of sporadic (randomly occurring) cases of Parkinson’s disease.

We are working to include as much meaningful genetics information in the PatientsLikeMe Parkinson’s community so that you can make the best decisions collaboratively. For those PatiensLikeMe Parkinson’s community members taking advantage of the 23andMe offer, we encourage you to upload your genetic information on your PatientsLikeMe profile so we can continue to expand our understanding of genetics and Parkinson’s in the context of individual patients.  If you go to your 23andMe account and find that you have the LRRK2 G2019S mutation, you can add it to your PatientsLikeMe diagnosis history.  Once you have entered your genetics to your profile, you will be “findable” by other “patients like you” with the same genetics. The PatientsLikeMe research team is excited about learning more about Parkinson’s with your help. Sharing information will help us all learn as much as we can about the disease.

Today, more than 3,600 people with ALS are sharing their health data and experiences with patients like them.  Recently, we announced our new genetic search engine for ALS patients, designed to help members find others like them, right down to the molecular level.  With 10% of all newly diagnosed ALS patients joining PatientsLikeMe, there are more and more people sharing their health information, including genetic data, to help learn about this disease.

Our research team’s geneticist Dr. Catherine Brownstein recently interviewed Samperio, one of the first members to enter in his genetics on PatientsLikeMe. Later this year, Catherine will be presenting the genetic data shared on PatientsLikeMe to the leading doctors, researchers and thought leaders in the industry to help us all learn more about ALS, and the genes affecting the condition.

Here’s what Samperio had to say about life with familial ALS (FALS) and hope for the future.

***

	(Catherine) Thanks for agreeing to the interview!  You recently joined PatientsLikeMe and revealed that you have a SOD1 genetic mutation, the cause of your familial ALS.  When did it all start and how has this form of ALS affected you and your family?
	(Samperio) My ALS is affecting my family [the same] as any other form of ALS. I stopped working, and my wife has to work for both of us. I never had the chance to play soccer or teach my 9-year old son to ride a bike, as I did with my previous sons. I lived the same ALS story with my mother.  She died when I was 18. It took her approximately 10 years, from beginning to end. My symptoms begin at age 40; my ankles were weak. So I was suspicious of ALS. A few years later, I had the DNA exam in Houston, TX and it came positive for FALS. My biggest hope is my family, especially my wife. I know what a burden I am, since I lived that experience with my mother.
	(Catherine) You previously mentioned that your doctor had never seen your genetic mutation before.  How much do you know about your SOD1?
	(Samperio) Almost nothing. The DNA exam was performed 6 years ago. The doctors never told me anything regarding my genetics. I have never met anyone with FALS.
	(Catherine) So now you’ve joined a site with people just like you — even people with the same genetic causes for ALS.  What has been your experience on PatientsLikeMe?
	(Samperio) By joining PLM, I have found so much comfort on all the daily interaction, reading all those people [with the same disease] who share the same interest as I do.
	(Catherine) What is your hope for the future of ALS research?
	(Samperio) As for the future of the ALS research, obviously to find a cure for this disease. I will give all [my] help to the ALS cause.
	(Catherine) Thanks again for sharing, Samperio!

Despite some recent happenings in the news, we’re here to assure you that health 2.0 is still very much alive.  Here’s our recent announcement about our new partnership with 23andMe.

————–

PatientsLikeMe, the first community-based personalized medicine platform for people with life-changing conditions, and 23andMe, the world’s leading personal genomics company, announce a partnership today to help people with Parkinson’s disease.  PatientsLikeMe is teaming with 23andMe on its effort to recruit 10,000 people with Parkinson’s for a massive study of the disease, and give patients a way to learn more about their personal genetics.

“Today, technology is moving faster than the research establishment,” says James Heywood, co-founder and chairman of PatientsLikeMe.  “We are excited to see what happens when you give patients the ability to see variations of their disease and compare it to their own, while enabling them to easily define their personal genomics.”

More…

This month marks the 3-year anniversary of our flagship ALS community.  While there have been so many exciting milestones we’ve reached in that time, we’re always looking at ways to bring new insight to this disease.

In today’s issue of the journal Science two papers describe the discovery of a new gene for ALS (you can read the abstracts here and here). Around 90% of ALS cases are sporadic, i.e. we don’t know what causes them, but for 5-10% of patients the disease runs in their family (known as familial ALS, FALS). Until today, there was only one major causative gene that we knew about, called SOD1, which accounted for 20% of familial cases. Today’s new discovery of the gene FUS (also known as ALS6) accounts for an additional 3-5% of familial cases and was the result of an international collaboration between scientists in Boston, London, and Sydney. This is very exciting for research because the more we know about what causes ALS, the better our chances of finding an effective treatment through better understanding of the pathways involved in motor neuron degeneration.

Here at PatientsLikeMe, we’ve recently upgraded our ALS platform to capture data on familial ALS patients’ known genetic mutations. The goal is to help familial ALS patients find another patient like them, and to enhance understanding of the phenotype of each mutation, e.g. if different types of mutation cause a faster or slower disease progression. Ultimately our aim is to try and establish whether there might be any treatments that have a differential effect on patients with different disease-causing mutations. There are examples of this already known in other diseases; for instance the presence of absence of the Philadelphia chromosome in chronic myelogenous leukemia (CML) predicts whether the patient will respond to the drug Gleevec. Although there is currently only a single effective treatment for ALS (Rilutek), there are a number of trials underway investigating the potential of drugs for patients with specific gene mutations.

The unique outcome data captured on the PatientsLikeMe platform also allows us to learn more about the nature of the disease for FALS patients with different genetic mutations. In the graph above you can see the average rate of progression for patients with three different FALS mutations; the common and aggressive A4V mutation (sadly average survival is ~18 months), the rarer recessive D90A mutation (much longer average survival of ~13 years), and a very rare and recently identified mutation of VAPB, referred to as ALS8. Collecting genetic data and combining it with high-quality patient-reported outcomes helps a patient to answer the question “Given my status, what is the best outcome I can expect to achieve, and how do I get there?”.

Note: If you have familial ALS and know your genetic mutation status please consider joining our ALS community and sharing your genetic information through your diagnosis history.

PatientsLikeMe believes in the benefits of openly sharing health information.  That is why we are happy to spread the word about National Family History Day, which had its fifth anniversary on Thanksgiving 2008.

As families gather this holiday weekend, National Family History Day encourages families to become familiar with the health history of previous generations.  At PatientsLikeMe, we encourage everyone to take advantage of the family time to identify, discuss, and make a written record of family health problems.  Many health disorders such as ALS, Parkinson’s, Multiple Sclerosis, heart disease, stroke, and diabetes, run in families and across generations. Knowing your family history gives insight into your current health status, and lifestyles and environmental factors that may affect your disease risk.

While there is talk of personalized medicine being on the horizon, collecting and interpreting family history information is a currently available, and practical personalized health tool. Health care professionals can use this valuable information to design individualized care programs to reduce risk of disease and promote overall health.

So while you’re eating that feast and the leftovers this weekend, ask your family about their health history.  It’s good conversation and can help everyone.  Happy National Family History Day!

PatientsLikeMe is proud to announce that team geneticist Catherine Brownstein, Ph.D. will receive the 2008 Young Investigator Award from the American Society for Bone and Mineral Research (ASBMR). The award, given for Dr. Brownstein’s post-graduate creation and study of the Klotho/HYP double knockout mouse, which further elucidates the genes responsible for bone density and phosphate metabolism, will be conferred this September at the ASBMR Annual Meeting in Montréal, Canada.

“I’m honored and excited to receive such a prestigious award,” says Dr. Brownstein. “The ASBMR is a fantastic organization with many brilliant experimental and clinical scientists. I look forward to the meeting in September.”

Dr. Brownstein recently joined the PatientsLikeMe Research & Development team to ready its platform for the incorporation of genetic and biomarker information. PatientsLikeMe’s unique platform gives patients with life-changing illnesses sophisticated personalized outcome tools that previously were only available to clinical research centers like Yale where Dr. Brownstein completed her award winning work. The open data model of PatientsLikeMe and the thousands of active patients provide a unique new opportunity to do collaborative disease discovery and help improve patients’ lives. Dr. Brownstein will be responsible for defining and building the data structures that allow patients, for the first time, to actively participate in disease discovery as well as treatment.

Dr. Brownstein joins an internationally recognized research group including: Paul Wicks, Ph.D., an expert in psychological aspects of neurodegenerative conditions; behavior informaticist Jeana Frost, Ph.D. and social-statistician Michael Massagli, Ph.D., whose recent joint paper on “Social Uses of Personal Health Information Within PatientsLikeMe” is in the peer-reviewed Journal of Medical Internet Research; and Sally Okun, RN, an industry veteran focused on health data integrity for PatientsLikeMe communities. The team is led by James Heywood, co-founder of PatientsLikeMe, and renowned expert on Amyotrophic Lateral Sclerosis (ALS).

“Catherine has received a great honor with this award. Yet, we know her work is just beginning,” says Heywood. “Giving patients the power to discover and use genetic information to support discovery and improve care will change the landscape of medicine as we know it.”