The 12th 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.
Afterwards, PatientsLikeMe’sAaron Fleishmansat down with Dr. Brownstein to learn more about how the ICHG award is selected as well as how it spotlights PatientsLikeMe’s potential as a platform for genetic discovery.Listen in below to hear what Dr. Brownstein had to say about how your genetics can affect your condition – from how you metabolize drugs to how your disease will progress.
Held in Montreal, Canada, from October 11-15, 2011, the ICHG is the foremost meeting of the world human genetics community and takes place every five years.The anticipated attendance is 7,000 delegates from over 60 countries around the world.As part of her award, Dr. Brownstein will give a presentation entitled “An internet-based approach to enhance genetic data discovery in ALS” and receive complimentary registration to the five-day conference.
Just how difficult it is to win an ICHG Young Investigator Award?Dr. Brownstein was one of only 64 geneticists selected out of 770 applicants.In addition, her scientific abstract was one of 324 selected for presentation out of 3,932 submitted abstracts.In our book, that puts her in the top 10% of geneticists in the world.
Congratulations to Dr. Brownstein on this prestigious achievement.We look forward to publishing her report from the ICHG on the blog this fall.
Last November (2010), PatientsLikeMe was fortunate to have the opportunity to showcase our research at the world’s largest gathering of kidney and kidney transplant professionals. The American Society of Nephrology (ASN) annual meeting is the premiere event platform for debuting revolutionary treatments, cutting-edge technological breakthroughs and top research findings.
PatientsLikeMe presented a poster about our Transplants Community to more than 12,000 physicians, scientists and other healthcare professionals from all 50 states and around the world. The poster was very well received, and it allowed us to introduce our relatively young Transplants Community to a wide array of industry professionals, many of whom will pass the word on to their patients.
About half of our kidney transplant patients knew the exact degree of tissue matching they had with their donor (referred to as HLA matching)
The fewest HLA mismatches in kidneys came from deceased rather than living donors
Within the living donors, the closest matches came from siblings, followed by parents and children
These preliminary findings set the stage for more advanced research. Our goal is to answer a number of questions that are important to patients like you. For example, who is able to keep their transplanted organs the longest, and why? Which pre- and post-transplant medication regimens are the easiest on you? And what is the best outcome you can hope to achieve – and how can you get there?
Thanks to all of our transplants members for contributing to this exciting research. With your help, we look forward to presenting the answers to these questions and more at future ASN conferences.
The PatientsLikeMe research and development (R&D) team is excited about what we can all share and learn in 2011. Here’s a look back at some of what patients like you shared with us, and what we then shared with the world, in 2010.
The R&D team published and presented some unprecedented insights based on what you shared with us this year. In addition to attending and presenting at some noteworthy conferences in 2010, we also published a series of blogs and podcasts pulled together just for you.
Based on your feedback, the R&D team also implemented some changes to the medical architecture that will help improve the research we do, as well as your experience as a patient on the site. Ultimately, we are working to develop tools that help you answer the question: “Given my status, what is the best outcome I can hope to achieve and how do I get there?”
Today and tomorrow, we’ll be highlighting some of the work we’ve done in 2010 focused on various communities. Today, we start with the following (listed from newest to oldest community):
Researcher Catherine Brownstein MPH, Ph.D. presented a poster at the American Society of Nephrology (ASN) Renal Week in Denver. We compared the profile of our Transplants Community to published data from the UNOS/OPTN databases and found that about half of our patients knew about the exact degree of tissue matching they had with their donor. We found the fewest mismatches in organs that had come from deceased, rather than living donors. We also found that within the living donors the closest matches came from siblings, followed by parents, children, and then any other relative.
In December, the team attended the annual American Epilepsy Society (AES) conference and presented a poster comparing our data to the Pharmetrics insurance claims database. We found that our Epilepsy Community is a little more likely to be female, more likely to be in their 20s-40s, and that they are more likely to be taking multiple anti-epileptic drugs than the broader epilepsy population. Exploring the biases in our data set and being transparent about them is one of our core values as a science team.
PatientsLikeMe is running an ongoing patient-reported outcomes (PRO) study with UCB to measure the physical, social and mental well-being of people with epilepsy over time. By the end of 2010, members of our Epilepsy Community had completed more than 1,300 PRO surveys. Thanks to all of you who contributed.
The R&D team recently blogged about a report comparing our Fibromyalgia Community to the wider fibromyalgia population and revealed we are now able to declare with confidence that our community very closely matches the fibromyalgia community at large.
In 2010, we published a study entitled “Sharing Health Data for Better Outcomes on PatientsLikeMe” in the Journal of Medical Internet Research (JMIR). The study, conducted across several of our communities, established a link between sharing health data and benefits experienced on our site. The fibromyalgia-specific findings were that 21% of fibromyalgia members of our site strongly agreed or agreed that they had changed physicians as a result of using PatientsLikeMe, higher than the rate in MS (15%), mood (10%), Parkinson’s (9%), HIV (8%), or ALS (6%).
In response to popular demand for more research in fibromyalgia, the R&D team has also started reaching out to members of the scientific community to design research studies to take place in early 2011.
Looking again at the JMIR study specifically within the Mood Community, we found 26% of users agreed or strongly agreed that using the site had reduced thoughts about self harm; 23% agreed they had decided to start therapy or counseling after interacting with others on the site; and 22% agreed they needed less inpatient care as a result of using PatientsLikeMe. Here’s a video where I present some of these results, and give a walk-through of the Mood Community, at the UMASS Medical School’s Psychiatry Grand Rounds this year.
We also recently introduced a new tool in all of our communities called “InstantMe” to help you put your experiences in context. Based on the feedback we received from members of our mood community about the pilot tool (called “InstantMood”), it is now available for everybody.
In response to popular demand for more research in mood, the R&D team has also started reaching out to members of the scientific community to design research studies to take place in early 2011.
More highlights, including a video, coming tomorrow.
Our recent series entitled Share and Compare focused on how patients like you can better answer the question, “How do I put my experience in context?” The answer, in part, comes from how much information you share to help create that context of real-world patient experiences. Think of it this way – with every piece of information you share, you are contributing directly to research.
When we’re conducting research, one of the things we look at is how similar or different you are to the populations at large. We even have minimum criteria for a person’s data to be usable. For example, if you indicate whether you’re male or female, you make it that much easier in determining how you “fit in.” That one piece of information helps us know if our population is in fact representative of a disease, or whether we’re only getting one specific type of patient (e.g., males with fibromyalgia who don’t have much pain). If we do get more of one type of patient, it becomes more difficult to draw any conclusions from that population and apply them to the general public.
So, you may be wondering why we need to compare to the published literature/general public? Why can’t we just say that our conclusions apply to our users and leave it at that? The answer to this question has many parts:
We have the ability to positively impact everyone with disease, not just our current members. Ideally, we will apply knowledge gained through research in our communities to all people living with diseases.
From a research perspective, we have to know our biases, and how to correct for them if possible. For example, we tend to have more women than men in our populations. By knowing that, we can “correct” for it in our analyses by making sure our proportions are correct when we look at a sample of users.
We can know how our discoveries fit in with other information known about a disease. For example, let’s say we figure out that patients who have had fibromyalgia for 15+ years improve their quality of life by doing Treatment X. If we don’t know how many patients have had fibromyalgia for 15 years or how many do Treatment X and don’t improve, the discovery loses some of its power from lack of context. Perhaps it isn’t a discovery at all! However, if we have data from our community to answer those questions and can compare it to published literature, we can trust more in our discoveries.
Here’s a great example of what can happen with the data you share. Recently, we evaluated our fibromyalgia community characteristics with the Demographics Survey sent out early in 2010. For some of our communities, the survey had fantastic results. We are now able to declare with confidence that our community very closely matches the fibromyalgia community at large (Table 1).
By maintaining your profiles and keeping accurate records of side effects, medications, background information, and outcomes (such as quality of life), you are participating in groundbreaking research that is already yielding fantastic results. Our research team has presented at prestigious conferences and written dozens of abstracts and papers. Working together, PatientsLikeMe has discovered new symptoms and compared treatment efficacy; we are also working towards creating an accurate picture of how medications work in the real world so you get the right treatment for you. This is just beginning.
We recently sat down with our executive team here at PatientsLikeMe in our first-ever roundtable-format podcast. In this PatientsLikeMeOnCallTM interview, we ask Co-founders Ben and Jamie Heywood, Chief Marketing Officer David S. Williams III, and R&D Director Paul Wicks PhD to discuss why our recent series themes are so important to the history and future of PatientsLikeMe.
Blog Series Themes:
“Share and Compare” – where you learned more about how and why patients like you are sharing their health information to put their experiences in context.
“One for All” – including visualizations on how one member of a community can be the catalyst for a universe of unparalleled dialogue and support.
While discussing how patients can continue to drive the health care process, they also help us preview this week’s discussion called “Treat Us Right.”
Treat Us Right
In this series, we focus on how you can see if your treatment is right, just by the information shared by patients like you; and how important your shared information is to research efforts – both for academia and industry to learn how they can help each of you make good choices about your treatments. We’ve heard you tell industry to “Treat Us Right” and we will talk more about it this week.
We kick off “Treat Us Right” week tomorrow with Research Scientist Catherine Brownstein, MPH, PhD describing why it’s critical to compare the PatientsLikeMe communities with the general population of the diseases to begin to assess the validity of treatment outcomes reported on the site. Stay tuned.
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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.
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.
Today, we’re announcing the launch of our Genetics Search Engine for people with ALS. Imagine finding other patients just like you, down to the genetic level. Patients in our ALS community can now do that. (For patients who don’t see their genetic mutation right now, that’s alright. They can be the first with that genetic mutation to join our community and share information about the disease.)
What does sharing genetics mean for research? By capturing data on familial ALS patients’ known genetics (such as SOD1 A4V, SOD1 D90A, and VAPB P56S), we can learn more about the cause and effects of every kind of ALS and better our chances of advancing research and finding new treatments. Our goal in launching the Genetics Search Engine (and other upgrades like it) is to help patients find others just like them and enhance our understanding of the phenotype of each genetic mutation (i.e., different causes of ALS have faster or slower disease progression).
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.
Posted by Lori Piscatelli Scanlon | September 24, 2008
You’ve spotted us again! This weekend, PatientsLikeMe was a proud sponsor of the AIDS Walk/Run at Grant Park in Chicago on September 20, 2008. The event, benefiting the AIDS Foundation of Chicago and 70 other local organizations, brought together more than 7,000 people on this warm, sunny day to show their support in the fight against HIV/AIDS. Together, participants raised a projected $400,000 for AIDS-related services.
David Williams, Catherine Brownstein and I were at this event, and we were thrilled to meet so many great people, including one of our current members. As we saw at the AIDS Walk in Boston, there were an overwhelming number of support groups and organizational leaders there dedicated to helping patients.
The PatientsLikeMe HIV community, in particular, was met with great enthusiasm. Our booth visitors loved that we had social networking components on the site, but were more excited about the patient profiles and treatment reports. We displayed sample profiles to show how members can chart their treatments, symptoms and outcomes (like CD4 counts and viral loads), and use that information to find others exactly like them. Many people had heard of websites that offer a place to chat with others, but this health data-sharing approach was new and interesting to all. Let’s just say heard a lot of “wows,” which is always exciting and validating for us.
If you’ve been following our blog, you’ll notice that we’ve been out and about quite a bit this Fall spreading the word about PatientsLikeMe. We’ve exhibited and presented at many events, including the Young-Onset Parkinson’s Network Conference, DBSA Annual Conference, MS Challenge Walk and now the AIDS Walk Chicago. We hope those we’ve met will find their way to our site, and share their stories, their health data, and their passion for advancing the knowledge of these conditions.
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.”
At PatientsLikeMe, people with every type of condition are coming together to share their health experiences, find patients like them and learn how to take control of their health. The result is improved care for patients as well as an acceleration of real-world medical research.
Stay tuned to our blog for the latest happenings with our company, our patients and our mission of opening up the healthcare system.