Read our new interview with Rhiannon J Stephens at Comradis published for Rare Disease Day!
Rhiannon Stephens met with Dr Sharmila Bakshi to discuss her start-up Personalize My Medicine (PMM), rare disease and the future of healthcare.
RS: When was PMM launched?
SB: Personalize My Medicine was launched in November, 2015. I came up with the concept around August, 2015 and started to develop a website. I soon started to make collaborations and establish partnerships. It is quite a new start-up.
RS: Did you have the idea long before you acted on it? Was it something you had in mind for years or was it something you came up with and then decided “yes I am going to do this!”
SB: It was not a concept as it stands now, that I came up with years ago. It really was during August, 2015, that the core idea came to me, but I think it was a culmination of several other threads or thoughts I have had; ideas I´ve had for start-ups over the years, especially over the last 2−3 years. So, I had three different ideas and this was the one, when I talked to a few friends and family, it resonated and there was a positive response, especially from my sister who is a medical doctor and whose opinion I really value and trust. The fact that she didn’t say “that is crazy” made me think it really might be worth pursuing and developing. She actually said “that’s a really good idea”, which from her is a big deal.
RS: So you had your family and professional focus group.
SB: Yes, perhaps I should elaborate because my background is in medical research, biotechnology and in pharma, I had a lot of ideas that were related to drug development. The process of drug development was something that was very much in my mind, as well as some of the gaps or problems, as I saw them, in the current process of drug development.
There was a conference I attended in Oxford a couple of years ago, on the latest trends in medical research, topics like personalized medicine, precision medicine, and big data. It just struck me at one point while I was sitting in the audience, that there were no patients present, and that patients were not even in the picture. Yet, everything that was being discussed was apparently for patients. So I had this picture in my mind, almost like a cartoon of a room with a wall, so two rooms, and the patients were all in another room and all the scientists were in the room next door talking about what is best for the patients. There was no way for the two to interact, and that is what led me to start thinking about how to bring patients into the picture.
There is this diagram that people often use for the process of drug development. Your typical diagram includes the preclinical, clinical, the development phase, marketing, etc and I thought, “Actually, I have a diagram like that on my own consultancy website for Kaizen Bioconsulting that I am making myself”. I was trying to insert patients into it somewhere in different places, thinking how could we bring them in, how could they give their input to this part or that part. I realized it was just nonsensical. It just did not make sense. I thought, “No, that is just not going to work, let’s scrap it” and I put the diagram away and I just drew patients at the centre. I thought, “what if patients decided everything?” I know that sounds very naïve because, you wonder, how are patients going to have the knowledge to make those decisions, but then I thought no actually, in anything related to you, you can make decisions about what should happen, but you need to be informed. You need professionals to guide you, like in a legal case, you would probably want a lawyer to represent you rather than trying to go up in court by yourself, most people would, and they would want someone with the knowledge and the experience to do it professionally. That was what I also had in mind in parallel perhaps because I studied Law, so I was thinking in that way.
Personalize My Medicine really came out of those two thoughts, as well as medical innovation. So the third part was medical innovation. Over the last 4−5 years, I have been reading a lot on medical innovations and even in the lay press, there are so many announcements almost every day. Some days, there are three different major announcements in the press. This is something truly incredible, which you would not have had maybe 10 years ago, so I think the pace is just increasing. I had been posting a lot of these links, for example on LinkedIn, and saw people were really interested in knowing about these innovations. While it is good to read a scientific paper, you may not have time to stop in the middle of your work to read a scientific paper. If you read a headline, at least it alerts you to a bionic eye, a new immunotherapy for lung cancer, whatever it is. I thought, I need a place to bring all this together instead of just posting links; then I started thinking about a website. So these three things really, I would say they are the main elements of PMM.
RS: That is really interesting, your scientific background and your background in law coming together.
SB: Finally, I just realized there should be a way to put patients at the centre. We talk about patient-centred medicine, but I think now is a really good time to think about, not just how patients can be brought into healthcare and how healthcare should be run, but to actually let them drive it.
RS: What services does PMM offer patients?
SB: The main service PMM offers is an informational service, which helps patients and individuals, such as family members who are lacking information about a condition or specific aspect of a condition. However, obviously, they do receive information from their doctor and from the medical profession. PMM does not provide medical advice. It provides information, depending on what stage you are at with your condition, so it is very specific to the individual depending on the type of information they need.
So even though you might have the same condition as someone else, the information that you need may be different, based on the kinds of issues you are facing. For instance, you may need information on managing the condition or maybe you need some support or want to know, is there a clinical trial that you could be eligible for. Perhaps you want to know not only what the current drugs for your condition are, but also what drugs are in development. Even if those drugs might take time to develop, many patients are interested in knowing about them.
It is also about helping patients who want to be more proactive to do so in a professional way. Perhaps they want to incentivize the research going on; research which may only be being undertaken by one person, one laboratory or one company. First of all, they would need to know who those people are, who the academics are working in this area. Secondly, they would need to know which biotechnology or pharma companies, if any, are working on a drug or treatment for this condition. I think it is very difficult for people, if you do not have a scientific or medical background to just go on Google and to know which of the information that comes up in the search results is trustworthy, is reliable, has the right controls, has been done rigorously and so on.
RS: How does the service that you offer differ from the information that would be offered by charities?
SB: I think what makes PMM really different is the individual approach. I think what charities offer is extremely valuable and they are often the first port of call. In many cases, PMM will direct people to the right charities that could help them. However, if they need a more individualized approach because of the particular issues they are facing, I think it is difficult for charities to hone in and look very specifically at one person and what kind of issues they might be facing. It would be difficult for them to spend time really researching individual issues and to provide a summary of all the information with all the references, which the patient can also take to their doctor. I don’t think it is impossible for a charity to do that, but I think it would be tough for charities to do that for every individual that comes to them.
This is really about an individualized and personalized approach. We would look into what you want us to look into, we would always give you the original references, try to summarize in a way that is easy to understand, but that can also be taken to your doctor because, as we stress, it is not medical advice. It is informational, but it is done in a very scientific and professional way.
RS: It is tailored and personal.
SB: Tailored, exactly. Tailored to the individual, and I think that is at the heart of the concept of PMM it is about the person. We talk about patients but I always try to write in the text of the PMM website, “people and patients” because we are both. I try to remember that, and to emphasise that in the work we are doing, to always remember that we are providing a service to a person, and it would be difficult for them to do this on their own. What we are providing is something backed up by the evidence, by the facts; we are going to sort through the information that we find. Also, if you have a scientific or medical background, you have developed the skills and knowledge to know where to go to find different and reliable sources of information. You may start with Google, but you may start in PubMed or some other medical databases or websites. You will know how to decide whether a certain scientific study or article is one that has done its research very rigorously. I think from having done a PhD as well, you automatically go through the process of vetting all scientific information that comes your way on a certain topic and filtering it and being able to judge whether it is relevant or not, whether it is reliable or not. There are a lot of skills involved and that is what is of real value to patients.
There are examples that I have put on my website of a few patients, really amazing individuals, who have done this by themselves. They have researched their own condition; they have even developed networks, sometimes globally, to help themselves. However, usually they tend to be people who are quite highly educated obviously they are highly motivated, but they also tend to have the resources. Sometimes that could be financial, they might be business people, they might at least have good salaries because undertaking this kind of a task is very difficult. So just imagine there are many people who might not have gone to university, let alone have a science background or medical background. Also, they might not have the time to do their own research. If they are the patient themselves, that is very tough or if they are looking after someone who is a patient, that is also very tough. I think that is where the value lies.
RS: Who does PMM work and collaborate with?
SB: PMM already has quite a few partners. They vary, so they are all different types of partners. Some are charities, some are non-profits, and some are for profit companies. One of our partners is The Journal of Precision Medicine. They are all different types of partnerships and each of the partners is chosen for a different reason; we help each other. The whole basis of the relationship is that we help each other in some way. Some partners I have approached, and some partners have approached me, which is really nice. The main thing is that we are all obviously interested in healthcare and medicine; we are all also interested in helping patients to help themselves. For instance, one of our partners is RareBase, which is a start-up, which was set up around the same time as PMM. They have set up a database to allow networking between people working on rare diseases. It is more biotech and pharma focused than patient-focused, but it is a very useful resource. We are also partnering with, as I mentioned, The Journal of Precision Medicine, and we’re hoping to have a really interactive collaboration there. Their ethos is very much aligned with PMM´s and actually the editor approached me and we realized we have a lot in common (in terms of what our thinking is). There is also Raremark, we are going to partner with them soon and Findacure as well. We also have ongoing partnerships with an increasing number of congresses and conferences and conference organizers such as Terrapinn and SMi that focus on precision medicine, rare disease, medical innovation, and related areas.
So there are different types of partnerships; some are media partnerships, such as our partnerships with Digital Health Age, some are more to do with letting patients know about each other’s services. I suppose with each of the partnerships, we have a common philosophy and I think that is what makes us good partners.
RS: How does PMM help innovators and address unmet medical needs?
SB: Personalize My Medicine wants to put a focus on rare disease because rare disease is a true unmet medical need, but it would also like to address other types of unmet needs. An ´innovator´ could be a scientist, they could be a medic; they could be someone with an idea for a prototype of a surgical device or some other type of technology that addresses a clear unmet medical need. I would like to match up what patients think needs to be developed with ideas and concepts that are out there.
RS: How did you first become aware of orphan diseases?
SB: My background has been more on vaccine development. However, in the last few years, I have had to work on a couple of projects on rare diseases more medical writing-type projects. This made me more aware of these conditions and how devastating they are, as well as of just how many of these conditions there are. There are over 7000 rare diseases. The total number of drugs that have been developed to treat rare diseases is less than 300 or so. So the majority of rare diseases are not addressed; most of them don’t have biotech or pharma companies investing and working on drugs to treat them. Also, in many cases, there isn’t even any research going on in academic labs on those conditions. Hopefully, this may start to change in the near future because technology is advancing and our ability to address rare genetic disorders especially…it might become more possible for scientists to address some of these conditions, hopefully.
I started to read more about orphan diseases and rare diseases, to be more aware of some of the statistics around rare diseases, and to recognize that this is a huge area of unmet medical need and a huge population of patients that have been largely ignored, for a long time. This is one of the reasons that, although PMM does not focus solely on rare diseases, PMM does want to put a strong emphasis on, and does really support developing treatments and technologies to address rare diseases.
RS: What distinguishes the experience of patients with rare diseases from that of other patient groups? You spoke about the lack of treatments and research. I know from personal experience, another area is diagnosis.
SB: Yes. I think diagnosis has been one of the biggest problems/issues faced by patients with rare diseases, because often there can be a big delay between a patient suffering from symptoms and actually getting a diagnosis. In many cases, these patients are children and babies and the longer it takes to actually know what is wrong… Sometimes they have to suffer a lot of invasive procedures and testing to try and find out what the cause is. This relates also to the question of funding for genetic tests a lot of the time families do not have the resources to be able to pay for that and that could save the baby, for instance, from undergoing a lot of these invasive procedures. You could get an answer much more quickly.
RS: Is PMM a resource for patients pre-diagnosis as well as post-diagnosis or are you focusing only on patients once they have had their official diagnosis?
SB: It is really focusing on after the diagnosis, but in cases where patients are struggling to get a diagnosis we would put them in touch with charities and other organizations that are focusing on diagnosis, such as the Rare Genomics Institute. Luckily, now there are quite a few organizations that are trying to help patients. For example, the Rare Genomics Institute in the US is very strongly focused on helping patients to get a diagnosis. They use crowdfunding very specifically for that purpose.
RS: What is the difference between personalized and precision medicine?
SB: It was the case originally, that in the UK, personalized medicine as a term was being used more, and in the US precision medicine was being used more. Now, the National Institutes of Health (NIH) has given a definition for precision medicine and has tried to differentiate between the two. What they say, and I have this on my website as well, is that their preference is to use precision medicine as a term because it is thought that the term personalized medicine can imply that it is a treatment or an approach that is developed for you as an individual only, just specifically for one person. Whereas the term precision medicine implies that you are looking for a precise solution to a particular condition. That may be for a group, maybe a large group of people, but perhaps they have a specific version, you could say, of a condition. Rather than grouping everyone together who has that condition, you are stratifying and then addressing the sub-populations.
In my case, with PMM I chose to go with Personalize My Medicine for a few different reasons. One reason is that I think there is a place for both precision medicine and personalized medicine. I think that actually in future, maybe not right now, but eventually, what we will have is personalized medicine. I think it will be personalized and tailored, as you were saying, to the individual. Also, since Personalize My Medicine is not actually in the business of medicine, of actually developing medicine, we are not creating personalized or precision medicines. What we are doing is focusing very much on the person and so that is why I went with Personalize My Medicine.
RS: What do you believe the future of diagnostics will be?
SB: Actually, that is a really interesting question because whereas in the past, healthcare was always very much focused on treatment, now we’re thinking much more about prevention. If you think about how healthcare has been designed and how it has been run for a long time, you get the condition and then you worry about how to treat it. What we really need to do is try to prevent people from actually getting the condition, then suffering from it and having to have all kinds of different treatments, surgeries or whatever it is, and perhaps having to manage that condition for the rest of their lives. Also, we want obviously to try to prevent all the costs that are associated with it, because now what is really driving things is economics. Let’s face it, people talk a lot about what is best for patients, but they are thinking money, numbers, how are we going to cope with these large numbers of people. So that is why medical technology and especially diagnostics have become the focus within the last few years and I think that’s going to increase. The idea is that if you can find out early that someone has either a predisposition or has a condition you can address it; you can intervene and address the condition much more effectively. There are huge numbers of diagnostics being developed, some are genetic and some are other types of diagnostics, such as devices. I think you mentioned earlier that there is perhaps a lot of emphasis on home-testing or personal testing that you can self-administer. This is a very interesting concept; we have to see how things go, I don’t think we know yet.
We are more accepting of the fact that health isn’t just about a pill that is prescribed to you. Healthcare is evolving and we’re thinking about health in a more holistic way. We’re thinking about the mind and how it connects to the body; how all the many factors in our lives can play a part in our health and our wellbeing. It is going to take a while to integrate all those things to form a new model of healthcare. This is not going to happen overnight, but I think now is the time that it will happen.
RS: Is Personalize My Medicine involved in that? Is that something that you offer – lifestyle advice as well as information services?
SB: Personalize My Medicine would like to make people aware of the latest innovations that could be helpful to them in terms of their health and wellbeing as well as in managing their medical condition, if they have a particular medical condition. So that could include digital health, applications and devices. PMM aims to do this both through its personalized service and our new online shop, which will be launched in Spring 2017. Yes, it could be something that helps you manage your diabetes, but equally, it could also be something that helps you manage your fitness or your diet. It could be something to do with mental health. So it’s looking at all the different aspects of health and wellbeing. The main thing to note is that in all of our work, we always seek to inform patients only of research, products and services that have been evaluated, that have been validated, that have good scientific backing and references that you can go to, to establish what is known about that product and how reliable it may be. If we cannot find that information we probably won’t be telling you about it or we won’t be suggesting it to you. Importantly, it will be patients and innovators who will review the products or services and not PMM.
RS: What do you think the future of innovation in medicine is? How do you think the process of medical innovation is changing?
SB: I think medical innovation is a huge and growing area which is attracting a lot of interest from a lot of people, both within healthcare and medicine, and outside. I think this is happening for a number of different reasons, but mainly because of our access to information, the internet and so on, and our ability to devise technologies that allow us to improve and manage our own health in a way that was not possible maybe even ten years ago. I always talk about smart phones here, because I think a lot of this shift in how we think about what is possible comes from what we know is already possible just using our own smart phones. We have realized that we can do a lot ourselves and people are no longer willing to just be told that there is no option for them or that there is no information or that nothing can be done. We really want to know, we really want to find out, and we think it is possible because we know it is possible.
PMM´s tag line is “Helping you make the most of medical innovation”. There is so much innovation going on in medicine and healthcare. It is really difficult, not only for the public and patients, to find out about these innovations but even for medical doctors, to be aware of all these innovations or the latest research, it is very tough. Doctors already have a hard time just knowing what is already approved, what they are able to prescribe in terms of drugs, surgical procedures. Obviously, they have to focus on what is already approved. Yes, they want to know about what’s up and coming, but in terms of what is relevant to an individual patient, they don’t have a lot of time to be reading or to be researching. Obviously, doctors do go to medical conferences to get updated on these things. However, PMM would like to provide a place where patients and innovators, including doctors, can become aware of the latest medical innovations helpful for addressing a particular condition.
RS: I suppose all of that goes doubly for rare disease, where just knowing about the disease itself, let alone innovation going on in the area, is challenging for doctors because there are 7000 rare diseases.
SB: Yes exactly. I think that is an area where PMM can add real value because it is very challenging for anyone to try to keep up to date on what’s happening with different conditions. I suppose with rare conditions, there are different ways of thinking about it, if you think about it in terms of 7000 rare diseases, obviously that sounds insurmountable. However, I think because we’re looking at individuals, what might be helpful to one individual for instance looking into what companies might be working on a condition, yes, could be very helpful to other patients with that condition, but also to other patients with similar conditions. So it might be that although two people have different rare genetic disorders, just being aware of which academics or companies are working on something related could be helpful to patients who do not have that exact condition, but have another condition. It would be very tough, if you think about it, there is a lot of duplication of work that is going on all over the world, in different laboratories and facilities. Everyone is doing their own thing. It is really difficult to know who’s doing what and there is a lot of duplication, which is a little bit wasteful. In terms of finding out who’s working on what, I think PMM could help by bringing together groups of people and making them aware of what is being done.
PMM is creating a central place, a platform for medical innovation start-ups to be showcased and featured. A lot of medical innovation start-ups have already expressed interest in this. So we will be inviting start-ups that have perhaps an app or some other technology that they’re working on, it doesn’t have to be an actual product that is on the market yet, but we will help them to be seen and let other start-ups know about them. It should also be a place which will allow patients, innovators and perhaps investors also, to be aware of them. So that is something that we are working on at the moment. We invite all medical innovation start-ups to get in touch with PMM.
RS: PMM will provide information about medical innovation. Will PMM facilitate access to those innovations?
SB: Yes. In developing the website we realized that obviously it’s great to let people know about certain innovations that might be helpful to them, but then how will they find those innovations, will they have to go into Google again and try to search for them? So we started to think about creating a place where people can search for the latest medical innovations of different types. These could be digital innovations, they could be wearables; they could also be other types of devices or services that could be really helpful to them. So we are creating an online shop which will allow people to do a really specific search for the type of innovation they are looking for. The shop will cater to both patients and professionals. It will be a central place, where they will be able to give ratings and write reviews. This should be really helpful to other patients as well, to other people, as it will mean that it is not subjective. PMM will not be giving its view, although we may publish some articles from time to time about different types of technologies to let people know about them. However, in terms of when you are doing the search, it will be something similar to Amazon or a website where you get the views of a large number of people who have used the product. We are also looking forward to launching our new animated explainer video on the PMM website in Spring, 2017.
RS: What is unique about PMM?
SB: I think what is really unique about PMM and I realize this each time we form a partnership for example, sometimes when you’re a start-up and you come across other start-ups you might think they’re doing the same thing as you, you might think they’re doing exactly the same thing, but so far I have found that that is never the case. In fact, everyone has a very different vision of what they want to achieve. Most of the time it is a case of having complementarities. What I have found with each collaboration, is what is making PMM different and unique is the focus on the individual. We are taking a very personalized and tailored approach, looking into what is important to that individual; what they feel is lacking in terms of information and helping them to achieve what they want to achieve. It is really about them and that comes back even to the design of the website and the name of the website. On the website there is a picture of a young girl; it is really about a person there’s not a picture of chemicals or molecules. It’s not meant to be focused on just the science or on being very clinical, it’s not clinical. It’s about helping people to help themselves.
RS: It is seeing people as more than their condition.
SB: Yes, certainly it is favouring a much more person-centred, person-driven approach.
RS: When a patient contacts you, would you go through what they’re looking for from the service, first and foremost, or are you initially more interested in what condition they have? How do you assess their needs?
SB: Initially we would have a call with the patient, and the whole emphasis is to find out what it is they would like to know and then think about the best way to address that. So that will be different for every individual. For example, if it was somebody who had a rare condition and wanted to know what clinical trials were available to them, we have partners who can help them with that and then if the partners are not able to help them with that then we can also look into it ourselves. It really depends on what issues that person is facing. For example, a family that has two children with the same rare genetic disorder, they might be under the age of 10, obviously there are so many factors involved apart from just the condition itself. When you are diagnosed with a condition that might be debilitating, that impacts on not just you but your family, in terms of how they’re going to manage it, do they need to find a source of care, are there treatments either available or in development that could help manage the symptoms. A lot of the difficulty with rare diseases is that the emphasis has been a lot on so-called “cures”. We don’t like to use the term “cure” as scientists, but it is about a treatment that cures, let’s say the disease. Now in most cases with rare diseases, you’re not going to have a cure and what many rare disease patients actually say, is that what they would like more emphasis on is quality of life and treatments that help them manage the condition. It costs a lot of money and takes many years for drug companies to develop so called “cures”. In the meantime, these patients are suffering and in many cases dying.
Every patient has different needs and therefore, what they want looked into is going to be different. Having someone dedicated to just looking into the questions you have and then giving you the information with the references, so that you can go directly to the original references, is a real help. It would be really tough for a lot of people to be able to find and vet that information themselves. Also, they have the opportunity to then take that information to their doctor, who may not really have the time to delve into those issues. What I was trying to say as well, is it is not just about treatment. It could be about support, it could be about management, and it could be about mental as well as physical wellbeing. Also, some of the innovations that might be helpful to you might not be medical, as in they might not be something that needs to be prescribed.
RS: It might be a lifestyle app.
SB: Yes, it could be. It might be a book. It could be something about relaxation, something that helps with stress, there are so many types of products that could be helpful to a person, but they would need to know about it. Then they would need to decide if that is something that they think could help them, but if you don’t know about it then you can’t benefit from it.
RS: Thank you very much Dr Sharmila Bakshi for speaking to us today about PMM, healthcare and rare disease.
SB: Thank you Rhiannon, it´s been a pleasure. Personalize My Medicine invites patients, innovators, and organizations interested in partnering with or sponsoring PMM or placing their product or service in our online shop to contact us at firstname.lastname@example.org.
To find out more about PMM, please go to https://personalizemymedicine.com.
Dr Sharmila Bakshi
Dr Sharmila Bakshi is the founder of Personalize My Medicine (PMM) and Kaizen Bioconsulting. Dr Bakshi is a biotechnology consultant with experience working for academic, industry, non-profit and governmental research organizations. Providing consultancy to biotech and pharma companies, she is focused on the development of drugs, vaccines, adjuvants, anti-infectives, biologics and therapeutics, as well as medical devices and diagnostics. She holds a PhD in Molecular Genetics of Neisseria meningitidis from the University of Oxford and a Graduate Diploma in Law from BPP Law School. Dr Bakshi has combined her passion for innovation, patient-centered medicine and research to create PMM. PMM is a platform for medical innovation, comprising an informational service for patients, a showcase for medical innovation start-ups, and a resource for both patients and professionals to stay up to date on and to access the latest medical innovations.
Rhiannon Stephens is a medical writer at Comradis, a communications and commercialization consultancy specializing in rare disease and uncommon cancers. Rhiannon has an interdisciplinary research background in science, philosophy and policy. She holds an MSc in Philosophy of Science from the London School of Economics and Political Science, where she specialized in evidence-based policy in the bio-medical sciences. Rhiannon became involved in rare disease research after she was diagnosed with a rare disease in early adulthood. Rhiannon is particularly interested in attenuated phenotypes of rare disease, the relationship between common and rare disease in biomedical research and diagnostic delay.