Are you one of the fortunate ones with the ‘higher performance IQ’ gene? Will you be able to survive a norovirus endemic unharmed? What are your odds of having breast cancer? For just $99 dollars and 2ml of your saliva, a Silicon Valley based company will provide you a new, unique way of discovering yourself and helping you to answer the fundamental question – ‘Who am I?’.
23andMe, a company founded nearly eight years ago by Linda Avey, Paul Cusenza and Anne Wojcicki, has set out to help individuals decrypt and understand the information stored within their own DNA through genetic analysis. Their service provides consumers with reports on health conditions and traits, personal medication efficacy, as well as ancestry information backed by the capability of dating information back to 10,000 years ago. Questions about risks of developing diabetes, Alzheimer’s, certain cancers and many other diseases can be answered within the online report that is available to consumers approximately six to eight weeks after sending a saliva sample to the lab.
Dr. Jeffrey Pollard, Director of Medical Affairs at 23andMe, describes his role as ‘preparing the world for a new genomic age’. He is responsible for guiding integration of personal genomics into the modern healthcare environment. Accordingly, he contributes to the health-related content on the company’s website, playing an important role in educational initiatives and working to build partnerships with healthcare providers. Dr. Pollard kindly shared his thoughts on 23andMe’s interests in healthcare and also his passion for genomics with MedTech Boston. Here is what we learned:
What kind of information can individuals learn by having their DNA tested through 23andMe?
JP: 23andMe provides a thorough look at over 250 genetic reports that covers health risks, response to various medications and likelihood of passing traits and conditions on to offspring; as well as a very thorough explanation of their ancestry and also how much Neanderthal DNA they have.
How is 23andMe contributing to the medical community?
JP: We are enabling our customers, who subsequently are patients in our healthcare system, with this genetic knowledge so that they can make health and lifestyle decisions that will optimize for successful outcomes. In many cases, this can be done in conjunction with their trusted healthcare professional.
As a physician yourself, what has your experience with 23andMe consumers been like in a clinical setting and how has 23andMe helped some of your patients?
JP: 23andMe creates some energy with patients. When they get their reports, they tend to have a lot of questions, but it is very exciting information for them. One thing we have to keep in mind is that patients or customers receiving their 23andMe information often don’t know anything about genetics or medicine and yet the information that we’re providing them is heavily steeped in genetics and medicine. And so, 23andMe does a really wonderful job at providing a soft landing place for individuals receiving this information, giving them an opportunity to explore the data at their own pace and present them with very high-level information at the beginning and allow them to take deeper to discover even more if their interests carry them there.
When they come to the clinic, in my experience, they often have a decent understanding of what these reports mean and so then they can partner with their healthcare providers to take the next step which is really – how are we going to use this information to guide care or prepare for things in the future that may occur? It’s been a very positive experience with customers that I have interacted with or my own patients, friends, family members who have undergone the testing and the feedback that they were getting from physicians is overwhelmingly positive.
The US spends approximately 3 trillion dollars on healthcare every year. Do you believe that empowering patients with data and knowledge about their own health will have a significant impact on reducing costs and improving efficiency?
JP: I think that’s the trick with appropriate screening. That’s really the driving principal behind trying to detect illness at an early stage or trying to prevent illness in general. Genomics gives us a really interesting window into the risk profile that somebody carries. So you can imagine how applying this type of screening to a broad population should translate into better healthcare outcomes and cost savings as well.
What can physicians do right now to help further the progress of the personalized medicine revolution?
JP: We recognize that there’s a significant knowledge gap, not only in our customers, but also in healthcare professionals as well. One thing healthcare providers can do is just get educated and become aware of the opportunity that exists with this kind of testing.
We can help. We have education initiatives that are directed at bridging this gap across what I refer to as a ‘K-through-MD’ audience. We are heavily invested in creating learning opportunities for healthcare providers and so, if they don’t know where to turn, they can look to us for guidance. we will facilitate in getting them the kind of information they need to get a baseline understanding – and a lot of that is just contained within our website. Healthcare providers can create a demo account on 23andMe and actually explore real data, it’s not their own but it’s sample data. They can have access to the whole spectrum of reports that are available. That actually – we found to be a great entry point for clinicians who are interested in learning more. We hope to develop a number of supporting courses and opportunities and take it to the level they want and that is suitable for their own style of practice.
You have recently partnered up with Udacity to establish a new open online course to educate people on human genetics. How helpful has this course been with education and engagement in personalized medicine?
JP: The recent effort that entails from the genome is really one example of a free online genetics course. It is really most appropriate for college-aged students and life-on-learners for that matter. As you mentioned, the course was co-developed by Udacity and available for free now online. There are parts of that course that would probably be a good primer to healthcare professionals. However, the course in its entirety is a twelve-lesson course and it’s probably not the most appropriate place for a physician to start cover-to-cover perspective, but they may find some very interesting nuggets within that course. One thought is that we may repackage some of those lessons, interviews and problem sets, and create an opportunity that is more focused on healthcare professionals and their baseline learning that they need to have to better engage with their patients. These are opportunities that we are looking at, but Udacity was a great example of our ability to put educational resources out there for free to the general public.
How many people have signed on to this course right now?
JP: Just as we launched very recently, we have enrolled over 8500 students at this point and as you mentioned – it is a very engaging course. It is interactive and we’ve been getting great feedback from those who are taking the course.
Are there plans to expand beyond this 12-lesson course?
JP: This is one course that satisfies that one-target audience in our ‘K-through-MD’ background and so really our next efforts are being placed on healthcare professions in training and healthcare professional in practice.
At 23andMe, you offer consumers the opportunity to be part of research programs. Tell us more about these programs and the importance of data-collecting in healthcare.
JP: We have the good fortune of having a number of ongoing research opportunities available to 23andMe members and in many cases these research opportunities are funded, which allows the member to have the 23andMe genotyping for free. And probably, our most well-known effort in that regards is our Parkinson’s research efforts and that has apparently enrolled over 12,000 members. So we currently have the largest genotype cohort of Parkinson’s patients, and there are discoveries being actively made from the data that is being collected from that group.
The value to the participant is the hope that there’s a discovery made that can affect them in their lifetime and likely in the very near future. This is really quite a distinct model compared to the traditional model where a participant likely signs up for a research project that’s going to take years and in return they get a $50 Amazon gift card and probably never hear anything related to the results – which might be fairly esoteric anyways and are likely to be published in a journal that the participant may never see. It’s likely that those discoveries, though they may be relevant, will take years to actually be implemented in a clinical setting. In this case, we are fast-tracking the opportunities in research because we are working on a very large-scale and we have millions and millions of data points that we are analyzing in real-time and we can draw conclusions from the associations that are generated through that type of research and deliver results immediately back to the world and the participants. It’s a more engaging form of research for the participants and they sense a lot of value given the speed with which we can gain results.
23andMe has an Application Programming Interface for developers to interact with and create apps from, using the wealth of information that 23andMe has on its consumers. Tell us about the significance of external developers, designers, technologists and entrepreneurs utilizing this platform to innovate in healthcare.
JP: We are very supportive of other brilliant individuals using this data to make further advances in research and in medicine. In some cases, it’s just fun applications of the data to a better delivering experience being offered through a third-party. And so, we do have an API and we do promote it. There are certain steps entities must go through to be qualified to use it but we are very supportive of it. We think that by allowing qualified, outside participants to access data, we can move even faster to making discoveries and using this data in a meaningful way in the community.
23andMe is said to be at the forefront of the personalized genomics revolution. But by allowing anybody to have their genes tested – is the knowledge of a consumer’s future through DNA testing more likely to be of a concern than it is beneficial to their own health? For example, a healthy and fit person who has a gene that increases the chances of having cancer by a significant amount may be demotivated to live a healthy lifestyle after learning this information.
JP: I think that’s unlikely. I think we do a very good job in putting these results in context, and by that I mean – genetics is only one piece of the puzzle for most of the conditions that we report on. Thankfully, there are things that can be done for the greater majority of things that we report and I think that the content on our website does a really good job of providing the context and providing a thoughtful approach of how one might interpret the results and find value in making lifestyle and health changes related to the findings.
Some scientists and physicians argue that the time is not right for genomics to go mainstream. What do you make of this?
JP: Well, when is the right time? That would be my question back to them. Is there ever a wrong time for do something good in the world and in trying to empower people with knowledge?
What are 23andMe’s plans for the future?
JP: Do I have only one sentence to answer that question? I guess in the very near future our goal is to make our test accessible to as many individuals as we possibly can. There’s such value in the size of the data meaning that more discoveries are being made at a faster pace. This can affect more and more individuals if we can grow the data faster and larger, and so there’s a lot of emphasis being placed on increasing the value to everyone by making the kit accessible and really promoting awareness about what we can do.
Just under a year ago, 23andMe announced that they had raised $50 million in new financing, which enabled the company to reduce the price of their service from $299 to the current price. That move, to make the DNA kit more affordable and therefore more accessible to consumers, has led to a great increase in the service’s popularity. Hence, it could be quite easily said that 23andMe is at the forefront of mainstream genomics.
As Benjamin Franklin once said – “An ounce of prevention is better than a pound of cure”. 23andMe seems to have adopted a similar philosophy. By providing its consumers with meaningful data, it is empowering people to take responsibility over their own health and to fight against the odds of suffering from bad genes before it’s too late. Through its educational initiatives, 23andMe is spreading the message of self-awareness among the general public in regards to health. Its API provides the company with an added dimension in that it permits external developers to contribute and bring new ideas to the table. This allows 23andMe to remain focused on its mission of providing accessible and affordable genetic analysis to the general public, while external parties innovate upon this foundation. Furthermore, it’s unique research programs are helping to make interesting discoveries in the field of genomics, but more importantly, the findings are being presented in a meaningful way to consumers and, therefore, could have a profound effect on future of personalized medicine.
There will always be the fear of what might happen if all this biological data gets in to the hands of the wrong party and is exploited. Although the Genetics Information Nondiscrimination Act of 2008 prevents employers and insurances companies from discriminating based on genetic information, it does little to protect individuals from being genetically discriminated in other areas such as in school admissions or in getting life insurance. For this reason, privacy should always be high on the agenda of genomics companies. 23andMe states on it’s website that it “does not sell, lease or rent your individual-level Personal Information without explicit consent” and that data is otherwise shared with third parties in an aggregated and anonymized form.
As the growing ’empowering patients’ movement is directing modern healthcare away from old-fashioned paternalistic concepts in a patient-provider relationship, 23andMe is leading the way for personalized medicine with it’s mission to educate the general public about their own DNA.
I am an eighteen-year old medical applicant living in London, UK. I am greatly fascinated by the art of medicine and it's ability to transform lives. Through writing, I hope to develop a better understanding of what it takes to become a competent and compassionate physician, who is able to practice good medicine.In this current day, it is apparent that 'big data' is revolutionising healthcare and through my interests in programming and medicine, I hope to make a contribution to this fast-pace growing movement of digital health.In my gap year, along with writing for the MedTech Boston, I am also working in hospitals, volunteering for charitable organisations and travelling across the globe.
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