And this is all in addition to your position with the healthcare arm of Cisco’s Internet Business Solutions Group (IBSG).

One of the reasons that I am so pleased that you agreed to talk with me on the phone several months ago, Dr. Sands, is that like many people in healthcare I spend a lot of time reading grant announcements and it has been really fascinating to note how so many of the tenets and principles of Participatory Medicine you have been working so tirelessly and so eloquently to put onto the public policy agenda and onto the radar screens of everyone in healthcare are indeed making such an impact that they color the very wording used by federal grant-making agencies in their announcements of funding opportunities. Clearly, your work in changing the nature of how medical care is delivered in the US and internationally has made it clear that Participatory Medicine is not something out on the futuristic periphery but is affecting who will get funded and what technologies will be developed. This is very exciting and important.

I thought of you and your work, for instance, as I read through several federal healthcare-related grant announcements the other day and especially as I read through this one,
Exploratory and Developmental Grant to Improve Health Care Quality through Health Information Technology.

This wording seemed straight out of your playbook, for instance,

“The field of consumer health informatics focuses on providing consumers, patients and their caregivers, health information directly through computers and other telecommunication systems (Eysenbach, 2000). Meeting patients’ and caregivers’ increased need for health information may improve communication between health care providers, patients, and their caregivers. This may enhance patients’ abilities to self-manage chronic conditions and enhance their ability to follow treatment, medication, and monitoring regimens. Through improved control of disease there may be increased functionality and quality of life and fewer exacerbations of chronic conditions that necessitate emergency room visits and hospitalizations.

The body of literature regarding successful implementation of health IT in non-traditional ambulatory settings, such as in homes, residential settings, and various types of community centers, is underdeveloped. Successful health IT implementation in these ambulatory settings may provide much-needed tools to improve health care for various vulnerable populations including the elderly…”

Now, there are several aspects of that passage that I would like to ask you about. For example, it references Gunther Eysenbach who is generally regarded as the driving force behind Medicine 2.0.

Could you please tell us a bit about how you see Medicine 2.0 and how it differs from Health 2.0?

I view them as interchangeable, but if one were to split hairs, Medicine 2.0 is more focused the providers delivering care and Health 2.0 does not necessarily depend on providers at all.

And are you at all surprised by the fact that the policymakers are starting to require evidence from potential grantees that the latter are meeting the increased demands by e-Patients for clinical and not just-consumer level health data? For example, at the Medicine 2.0 conference in September 2009 the keynote was delivered by e-Patient Dave. His talk was memorably entitled, “Gimme My Damn Data!”

I believe that patient engagement (participatory medicine, call it what you will) is the right thing to do, but we need more evidence to support this contention, otherwise businesses will not invest and in it and health plans and governments will not pay for it.

Do you think health networks and community hospitals are starting to spot wording colored by exposure of grant makers to the tenets of Participatory Medicine? This is a crucial matter for healthcare institutions large and small who are hoping to garner grant funding to help pay for the gargantuan expenses of healthcare IT projects, correct?

Realistically, most health systems are focused on current reality. That reality is payment for quantity care, less for quality care, and no consideration for the continuum of care. While this may change, if we have significant health payment reform, it’s hard for health systems to change their way of doing business and ignore their revenue sources today. That’s not to say all systems think this way–some are retooling their systems to manage quality across the continuum of care–but most are still focused on high revenue procedures in the current environment.

However, health systems and practices are also focused on obtaining federal incentive funds (from the HITECH Act), which provides cash rewards for demonstrating “meaningful use” of certified electronic health records. In these proposed “meaningful use” criteria there is an expectation of giving patients electronic access to their medical records and a few other patient centric rules, but the criteria have not yet been finalized.

Are you starting to see an increased level of awareness by healthcare administrators and executives that they need to start showing responsiveness to this surge of interest by patients in optimal access to their personal health data?

To a certain extent, but it has to make business sense before they begin investing. Many hospitals are struggling to maintain their businesses, so they view this as a “nice to have,” rather than a “have to have.” Exceptions are hospitals that perform elective procedures not covered by insurance. That said, I believe that focusing on customer services makes good business sense, as some health systems find that if they can provide a superior customer experience it serves to attract business. Technology can be helpful here, by the way, as we’ve learned in financial services and some retail settings.

Do you think that registered health information administrators and others in the health information management field are even aware of the e-Patient movement?

No, I think we are early in the game. How many hospitals have chief experience officers today?

Are you starting to see more attendance by all of those groups at gatherings that feature you and e-Patient Dave as speakers?

Yes, it is picking up.

Indeed, you serve as one of the few people who serve as connectors between Participatory Medicine advocates and those such as many in healthcare IT and in hospital medical record departments who have been much more prone to hunker down and think, “HIPAA, HIPAA, HIPAA” and “hackers lurk in every corner.” Could you please give us examples of how Cisco’s Internet Business Solutions Group is assisting hospitals and healthcare networks balance the need for secure systems versus the growing desire by patients to access to their own data (and could you address the matter of whose data it actually is in various instances?)

There are many aspects to security and privacy. Some are related to technology–which involves both hardware (network, data center) and software (applications)—and others are related to people issues—policies and procedures. Both are needed to provide a robust environment that protects patient’s data and privacy.

On the hardware side, Cisco creates technology that protects networks and data centers. The IBSG pioneered the Medical Grade Network architecture, that creates networks that are secure, resilient, and flexible. Next, we provide data center solutions with a focus on security. IBSG then helps customers understand the patient experience and the future of the continuum of care. Clearly information technology, home monitoring, transparency, and patient engagement are a cornerstone of this, and the IBSG is working in all of these areas.

Do you think that the world of clinical research is going to be affected in similar fashion such as by increased responsiveness by the NIH (as evidenced by such bodies as the Director’s Council of Public Representatives) to demands by citizen activists for more public input on the allocation of tax money for the funding for clinical and public research? Are we seeing a real revolution in demands for greater transparency at all level of healthcare from what research is funded (such as pressures from such groups as the Alliance for Taxpayer Access to people like e-Patient Dave who want their damn data?

I’m all in favor of transparency and public input. Private foundation and corporate funding is not subject to much influence from the public, but Federal research dollars are sometimes earmarked for particular types of research under pressure from Congress, which is in turn influenced by constituents and lobbying groups. It’s not a perfect system, for sure.

Finally, we need greater access to clinical trial results. We have gone a long way towards that but still have far to go.

On a related note, are you excited by Harvard’s pioneering move to mandate Open Access to the work of its researchers?

Have you seen any evidence that this policy is affecting the research and publication practices of your colleagues of Harvard Medical School?

I have not seen its impact yet.

When you and I spoke on the phone, you said so much that was truly fascinating that as I look at my notes now I find them a bit of a jumble as I struggled to keep up with what you were saying. I asked you, for instance, what you see as several key developments to watch for vis-à-vis healthcare delivery and technologies. You mentioned several in particular:

• Care at a Distance
• Immersive Technologies
• Aging in Place
• Participatory Medicine

We have already discussed Participatory Medicine a bit. I would like now to ask you about Care at a Distance. As you know, I have talked a bit to Roy Schoenberg, MD, MPH the president and CEO of American Well Systems
and have written about American Well. I was quite interested in the fact that he was your student at Harvard (what was the class, specifically?)

Roy was an informatics fellow in my department, and I hired him. The department is currently called the Division of Clinical Informatics at BIDMC (formerly known as the Center for Clinical Computing). Fellows, usually after their medical or nursing training, spend 2-4 years in which they learn clinical informatics.

You mentioned on the phone that you see the Online Care services that American Well offers to healthcare plans as part of a continuum of care that could be complemented by some of Cisco’s products and services and mentioned Cisco’s HealthPresence in particular. Could you please give us examples of how such immersive technologies as HealthPresence would work in a world in which the first stop for a homebound chronically ill and/or elderly person (especially in a rural area or, say, in a crime-blighted urban one) might be an Online Care video conference via the American Well interface? Might a provider following such a conference arrange for the patient to visit a site at which HealthPresence is available? Might such sites be, say, senior centers or even onsite in the very assisted living facility the elderly person might be living in?

The idea is that a patient who may not be ill enough to be seen emergently or can’t be seen in a physician’s office, might start by contacting a physician online through AW. If the person was too ill to be managed through online chat or webcam interview, they could be referred to the nearest Cisco HealthPresence unit, which might be much closer than a medical office or hospital. The escalation would therefore go through CHP, rather than directly to the doctor’s office.

Who else might be interested in HealthPresence? Public health departments that serve rural clients or migrant workers? Prisons? Physician clinics that might utilize them at satellite offices? Hospitals and health networks that would see them as valuable extenders of their existing home healthcare networks?

There are a host of use cases for CHP, including:

• Clinical scenarios
o Patient-physician consultation
– Primary care
– Specialty care
o Physician-physician consultation (with patient)
o Urgent care
o Ongoing care
o Disease management
o Follow-up
• Locations
o Hospitals that lack specialist care
o Underserved rural or urban areas
o Retail settings
o Employee health clinics
o Correctional facilities
o Schools
o Battlefields
o Long-term care facilities
o Assisted living environments
o Others…
• “Owners”
o Hospitals/health systems/long-term care provider
o Community health centers
o Physician groups
o Health plans
o Government agencies
o Non-governmental agencies
o Retail chains
o Others…

I asked you on the phone if some healthcare administrators of brick and mortar institutions regard such innovative technologies and the whole concept of Care Anywhere as an existential threat to hospitals as we know them now (i.e. as buildings that we as patients and providers must travel to) and you made the interesting point that quite to the contrary—that many executives see Care Anywhere as both a public service and a way to extend revenue-generating existing services to an ever broader geographic area as well as facilitating monitoring of patients that ensures that they will not experience setbacks that send them right back to the hospital (and such rehospitalizations are often not covered by Medicare, thus imposing a financial hardship on patient and hospital alike).

Could you tell us a bit more about HealthPresence?

This is best discussed over the phone, but we have plenty of material, including descriptions and video here.

Would it be somewhat like a clinic in a box?

No, it replicates a medical, office at a distance using the network as a platform to deliver a high fidelity interaction.

Can modules be added to it as needs for services are determined over time?

Different clinical scenarios are manageable through different staff and different types of medical instrumentation. For example, a psychiatrist may need nothing (or only vital signs), while a cardiologist may require a stethoscope, an electrocardiogram, and an echocardiogram.

Are there models for specific health conditions (e.g., for diabetes)?

We are developing these models with our customers based on our experience.

Is it being used in the US at this point?

Yes. It is being used to provide healthcare to employees at Cisco campuses in San Jose and Research Triangle Park to employees at Cerner in Kansas City, MO, and it’s also being used by United Healthcare , and some of our health system customers are starting to deploy this, as well.

Is Cisco working with healthcare institutions on research that would address the wording that we saw in the grant mentioned above, “The body of literature regarding successful implementation of health IT in non-traditional ambulatory settings, such as in homes, residential settings, and various types of community centers, is underdeveloped…?” Indeed, you mentioned on the phone that the Cisco Internet Business Solutions Group specializes in working with clients to test and implement such novel technologies. Could you discuss some of those projects and the IBSG’s role as thought leaders in healthcare and healthcare technology? Who else on the healthcare technology landscape is providing such cutting-edge consulting services?

As we work with customers on deployments we evaluate the impact of the projects and lessons learned. When possible, we work with partners to publish this, such as we did with our Aberdeen, Scotland pilot with the Scottish Centre for TeleHealth.

Could you please discuss the idea of Aging in Place?

Ageing Well in a Connected World is an area of thought leadership and demonstration projects that focuses on helping ageing citizens remain healthy, socially connected, independent, and working as long as they are able, facilitated by connected technologies. It is being executed a cross-industry, global IBSG project, primarily our public sector and healthcare teams.

When I saw you serve on a panel of judges of new technologies showcased at Health 2.0 in October of 2009 you and your fellow judges would often say something to the effect of, “Love the product. Pretty cool—but who is going to pay for it?” Do you think that we are getting to the point when such issues will be decided on the basis of pretty sophisticated research studies that will persuade policy makers and businesspeople that hospitals will pay for this, patient themselves out of pocket for that, health plans for thus and so and the federal government for such and such because some technologies are so obviously in the interest of each party in various circumstances. Could you provide examples of three such technologies vis-à-vis Aging in Place and tell us who you think will end up footing the bill and why they would decide to do so? Duress or just hardheaded number crunching? Do you think we are, under the pro-healthcare IT Obama administration, at a tipping point when it comes to Aging in Place technologies vis-à-vis cost effectiveness, reliability and true contribution to quality of life that soon such products and services will actually make it into the households of the elderly? What is one such product that has a wow factor for you?

In order for any technology to be adopted by the mainstream user, which is generally necessary for the survival of any company that provide a product or service (the exception being a government-subsidized entity), people must be willing to pay for it. This will come about when buyers (consumers, other companies, governments) see the value in this product or service. This may be an intangible value or utility (like an appliance or a consumer electronics product), but in this case it’s usually net economic value. This can only be assessed by implementing the technology and studying its impact.

This is even more important today. It is true that we face a graying population that places a high burden on western societies, but it is also true that we are more resource constrained than ever before. So we must prove the value of these potentially transformational projects, otherwise they will not be sustainable.

I asked you on the phone whom you consider important figures in the area of Participatory Medicine and you mentioned your colleagues at the Society for Participatory Medicine, Ted Eytan, MD,
and Kevin Leonard.

I hope I mentioned more than that. Alan Greene, e-Patient Dave, Susannah Fox, Charlie Smith, and many others, as well.

What conferences do you suggest those interested in Participatory Medicine attend and what professions are not attending those meeting that should? Hospital CEOs? The heads of hospital marketing departments (and do you see an open mind towards the use of Web 2.0 and social media and their use in the realm of Participatory Medicine as offering a competitive advantage to healthcare institutions that make that leap and tell us what institutions do you regard as exemplars in that respect)?

There are not that many conferences that focus squarely on PM yet, but conferences like the Connected Health Symposium, Health 2.0, Medicine 2.0, and even mHealth have strong PM components. More exciting to me are the mainstream healthcare conferences that are starting to have major presentations or tracks in topics related to participatory medicine.

I think we are seeing marketing people attend these already, but we need more CEOs and other business leaders. Those that come today already “get it” and are thinking about what they can do to engage their customers (patients) better by leveraging technology. We may not get more until we a) start demonstrating value, and b) health system reimbursement starts being linked to patient experience.

Where do you plan to speak in the next year?

I don’t know all of the presentations I’ll be doing yet. I do know that I’ll be running a Meet the Professor session on 21st century communication and social media at the Internal Medicine 2010 in Toronto in April, I’m supposed to do a keynote presentation on participatory medicine at Kevin Leonard’s One Patient One Record which I think will be in Ottawa in April, and I’ll be presenting at a New England HIMSS meeting in the Boston area. I don’t have my fall schedule set yet. I’m always interested in opportunities to wave the banner.

I notice that you tweet but do not seem to blog. Just too busy for the latter? Whom do you consider must reads in Twitterdom, the blogosphere, and the medical press?

I haven’t found the time for blogging, but I do write occasionally (one I wrote is on why I believe in participatory medicine here) and I comment on other blogs, as well. I do like Twitter.

e-patients.net
Geek Doctor
Ted Eytan.com
The Health Care Blog
Musings of a Distractible Mind
e-Patient Dave
HIS Talk
Running a Hospital
And others…

Finally, who are your personal heroes in medicine, technology, academia and in any other realm?

I don’t have a good answer for you because I don’t really think of people that way.

Thank you for your time, Dr. Sands.

You’re welcome.

I asked to interview you because you embody so many interesting developments in so many different respects. You are a bona fide scientist, an employee at one of the most interesting startups in the world of Health 2.0, someone on the cutting edge of the commercialization of the fields of personal genomics and personalized medicine, and are well connected and respected in the world of Open Science (as evidenced by the fact that you have recently co-authored a paper, “Article-Level Metrics and the Evolution of Scientific Impact” with one of the leaders of Open Science, Cameron Neylon).

Thus, you are a fascinating case study of how scientists are helping Health 2.0 companies contribute to the generation, analysis and use of consumer-contributed data, which also makes you and your work of interest to those of us who are interested in the subjects of user-generated content in the health sciences and in the e-patient and participatory medicine movements, of which 23andMe is an exemplar. You also interest me because there are relatively few female leaders in the field of Open Science and I would like to use you as an example of female accomplishment in that realm so as to encourage young girls to get interested in the subject and in science in general.

I envision, then, as potential readers of this interview those who may be new to the subjects of Open Science, those who already follow the subjects of retail genomics, those who are potential users of 23andMe but who want more information about the science behind it, those who are interested in the subject of social networking in the field of consumer health and those who would benefit from a primer on the field of Web-based genetic testing services. Other potential readers could include physicians and other medical providers who may not realize that in coming years they may encounter patients appearing with material they have printed out from the sites of companies such as 23andMe and will ask their physicians how the physicians intend to use such information in the treatment of such patients—(given that the Web site of 23andMe includes such wording as, “With 23andMe, you and your doctor can determine whether certain medications will be right for you.”)

Let’s talk a bit about terminology. As I read around on the Web about 23andMe I came across various terms used in conjunction with it. Could you please tell us what each of these are, what the differences are between them and which ones accurately characterize 23andMe:

Personalized medicine
Personalized medicine is the use of information pertinent to the individual to guide healthcare rather than broad standards applied unilaterally over most patients. To some extent, medicine already uses some information like this — medical history, family history, clinical measurements — but to a large extent ignores other information that may be important, like genetic variants unique to that person. When people talk about personalized medicine, they often talk about incorporating the patient’s genetics into drug treatment decisions (should the patient take clopidogrel, or warfarin? Are they going to have an adverse response to choline ester drugs used as a muscle relaxant in certain surgeries?), an area known as pharmacogenetics (how a person’s genetics influences how they metabolize drugs). Specialties like oncology are already using these principles quite a bit. But personalized medicine is also becoming more about preventative medicine (knowing your genetic risks for health conditions so that you can take steps early to prevent or monitor for them).

Participatory medicine
I have less experience in this space, but from what I understand, participatory medicine describes a phenomenon where patients are more engaged in their healthcare and in the research related to health conditions they may have. The Society for Participatory Medicine says this on their website: “Participatory Medicine is a cooperative model of health care that encourages and expects active involvement by all connected parties (patients, caregivers, healthcare professionals, etc.) as integral to the full continuum of care. The ‘participatory’ concept may also be applied to fitness, nutrition, mental health, end-of-life care, and all issues broadly related to an individual’s health.”

Consumer genomics/genetics
This term describes genetic testing services — usually for health or genealogy — that are available directly to the consumer.

Gene-testing services
This probably describes any service that determines variants in one or more genes, usually for the purposes of disease screening. Examples are genetic tests for inherited diseases like cystic fibrosis or Tay-Sachs. The type of testing (whether it’s specific variants tested, a scan of the whole gene for mutations, etc; one gene or a panel of genes; etc) varies. Most of these are ordered through a professional healthcare setting, though some are also available to the consumer. These tend to be fairly expensive, at least compared to consumer genetics services that survey much more of the genome, but they are meant to test for a particular condition and so may be more comprehensive, sensitive, or specific with regards to that condition.

DNA tester
Not sure what this refers to… but perhaps it’s the actual test kit for genetic testing, e.g. spit tube or cheek swab set?

Retail genomics
I think this is just a press term for consumer genetics.

Personal genomics
I take this term to mean the application of genomic technologies to individuals as individuals, rather than genomics applied to anonymized individuals or populations, and where the individual has the ability to interact with and control their genomic data.

Personal Genome Service™ (which term 23andMe appears to have trademarked)
This describes 23andMe’s consumer services, which currently includes testing for over 500,000 genetic markers for the purposes of ancestry or health information. 23andMe also provides tools for interacting with and viewing the data, and educational and informational resources for exploring the intersection between your genetics and health-related topics.

Genetic testing
This encompasses any test that determines your DNA sequence at specific locations in the genome or the presence/absence of genetic markers or variants, usually applied in the context of health, forensics, or ancestry.

Could you differentiate for us what might be the differences between genetic testing and personal genomics? How does 23andMe, for example, differ from the firm Navigenics for instance, which uses the term, “personalized genetic testing?” Are 23andMe and Navigenics nearly identical or are their aims, services and target markets different? Sometimes, for example, the two firms collaborate in defending the value of their services as in their joint rebuttal to some of the statements made in an article in Nature (including some comments therein by Craig Venter), “23andMe & Navigenics’ Open Letter to Nature.”

I consider both 23andMe and Navigenics to be providing “personalized genetic testing”. Perhaps the reason why 23andMe uses the term “personal genetics” and Navigenics uses “personalized genetic testing” is that Navigenics puts less emphasis on the raw genetic data and exploring your genetics than 23andMe, and instead focuses on information on specific markers related to disease (23andMe also provides this). Navigenics currently takes a more physician-oriented approach, with on-staff medical personnel, while 23andMe currently focuses almost entirely on the general consumer. In the end, though, both companies are direct-to-consumer genomics companies that believe that individuals should have access to their genetic information, and so our interests are aligned in many policy discussions.

Could you, as a scientist, tell us a bit about that brouhaha and, in a way, doesn’t the fact that 23andMe and Navigenics have been a focus of discussion in such prestigious publications indicate that they have arrived as serious players in the field of genomics and are not simply trendy boutique services for health-obsessed, cash-rich consumers?

It’s true that there has been some public debate over personal genomics and DTC genetic testing. Similar debates and disruptions always happen whenever technology becomes readily available before social and regulatory frameworks have adapted to cope with them (e.g. peer to peer file sharing and the music industry). I think that most people are recognizing that consumer genomics is not something that is going to go away, and as two of the major players in this space, 23andMe and Navigenics have drawn much of the attention from those who would comment on this rapidly evolving industry.

Could you tell us a bit about your background? What was your graduate degree in and how did you come to work for 23andMe?

I came to 23andMe from a graduate program in Biomedical Informatics at Stanford University under the tutelage of Dr. Russ Altman, who is a leader in the field of pharmacogenomics and is also a member of 23andMe’s scientific advisory board. Being in his research group exposed me to the ideas of personalized medicine and the potential impact personal genetic information could have on healthcare. Bioinformatics students also gravitate towards rich data sets and emerging technologies — something that the personal genomics has in spades — so it’s no surprise that two of the founding R&D architects at 23andMe were also graduates of the Biomedical Informatics program. As I grew closer to finishing my degree, I knew that I wanted to work on something that had an impact on people and that combined my interests in science, society, and communication. Personal genomics is a natural fit because it touches on so many aspects of healthcare, education, culture, information, and technology. And the placement of 23andMe in Silicon Valley along with its accessible approach to genetics appealed to me.

Are you a bioinformatician—or are you a biomedical informatician? Is the latter an actual job title? What is the difference between the two fields?

Bioinformatics and medical informatics usually refer to biology-focused vs. medicine-focused informatics, though the distinction between the two is becoming less clear as translational science becomes more important. That is, there is more effort these days to connect discoveries made in basic research to treatments or practices we can apply in a medical setting (so-called “bench to bedside”). Biomedical informatics is a term Stanford uses to encompass all aspects of informatics in both of these areas. As far as job titles go, they so rarely describe what someone does accurately, so I won’t even go there.

Your official title at 23andMe is “Scientist, Content Curation,” correct? Could you tell us what you do on an average day? Do you help compile and edit the reports listed here, for example? What does that entail?

That is apparently my official job title, though like I mentioned before, it doesn’t nearly encompass everything I do. Similarly, it’s difficult to say what I do on an average day because there hasn’t really been an “average” day! I have helped on some of the reports listed on the 23andMe site, though most of those were already around before I started working here a few months ago. As we go forward, I’ll have a much more active role in finding ideas and information for new reports and implementing some of them on the actual site, as well as contributing regularly to the company blog and helping with the development of new phases of the online product.

For the actual health reports, our criteria for including a genetic association on our website is available in a company white paper, “Guidelines on Vetting Genetic Associations”, available here. Much of the job of curation is to determine whether literature gathered on a disease topic fits that criteria.

You provide a charming account of your first weeks on the job at 23andMe in the blog post, “New Job and Curation 101” and this passage indeed answers many of the questions I intended to ask you, “So what is personal genomics, anyway? We’ve known for a while that genetics – the sequence of DNA inside our cells – plays an important role in our form and functioning. Many diseases are caused by changes in DNA (often in genes, parts of DNA that code for proteins) that alter the normal functioning of cells, though not all genetic differences lead to negative changes. (Genetics can also tell us about ancestry – who is related to whom and the history of populations – but I won’t be addressing that in this post.) Where it gets personal is when you apply it to individuals, such as when someone gets a genetic test to determine whether they have or are at risk of developing or passing on a particular disease. Where it gets genomics is when we use high-throughput technologies to do what is essentially thousands of genetics tests at once. Put them together, and you get personal genomics.”

Is genomics, then, basically genetic testing on techno-steroids? What can scientists learn from genomics when it comes to specific diseases and what does that mean for sufferers of that disease? For example, I am quite interested in the subject of amyotrophic lateral sclerosis. In 2007 an article was published in the New England Journal of Medicine, “Whole-Genome Analysis of Sporadic Amyotrophic Lateral Sclerosis.”

Could you explain, using that example, what such studies mean for average people with the diseases so studied?

You could think of genomics as many genetic tests done in parallel — instead of determining the sequence at one or a limited set of locations in the genome, you determine it for many thousands or more. Scientists have been using genomic approaches to identify areas of the genome that have previously not been known to affect disease. This has led to the discovery of new genes involved in disease development, in some cases, though in many cases it’s still unclear why a particular region has a certain effect. They identify these regions by comparing the genomes of people with a certain condition (such as ALS) to people without that condition; regions that are significantly different between the two groups are more likely to have something to do with that condition. Right now, these studies don’t mean too much for average people with the disease — they simply add to our knowledge of genetic factors that may contribute to the disease. (In a few cases, the findings may eventually lead to a drug target or other therapeutic discovery.) They may, however, help identify people at greater risk for developing a disease.

You discuss single-nucleotide polymorphisms (SNPs) in your contributions to the SNPwatch Category on the Spittoon. Could you elaborate here, “It turns out that there are millions of single locations in the human genome where the exact sequence of the DNA might differ between two people, and these places, called single nucleotide polymorphisms, or SNPs, can contribute to differences we can observe, such as whether you flush when you drink alcohol or how easily you put on weight. 23andMe personal genomics kit determines what your sequence is for a representative subset of SNPs. Many are already known to be associated with certain conditions, and new research is being done every day to uncover more and more of these associations.”

To wit, how would I as a 23andMe user such information? As a one-time fact to bear in mind when I plan my daily meals or as a deadly serious matter requiring further investigation in consultation with a doctor or a genetic counselor?

There are different types of information you can get from your genetics related to health. Some diseases are known to be caused by specific mutations in genes, and so a positive result for one of these could mean a high probability that you have or will develop the disease (if it’s a dominant trait, you only need one copy of the mutation; if it’s recessive you need two copies) or could pass the mutation on to your children. 23andMe currently covers a couple dozen of these types of conditions. Your genetics also affects how you respond to certain drugs, and 23andMe reports on several of these as well. These two types of information are probably most important for a medical professional to know. For other conditions (most conditions), your genetics affects your risk to varying degrees, and environmental factors are very important. They are mostly things to keep in mind to be more informed.

Note that the other product 23andMe offers is Ancestry — and many people are using it to discover new distant relatives and explore their family trees.

What is a genomewide association analysis?

This is the analysis of a large number of genetic markers (typically in the hundreds of thousands, or more) over the entire genome to identify genetic markers that may be connected to a disease or condition. See two passages above.

I must say that you are a very skillful elucidator of these quite arcane matters. This passage is very helpful for example, “The genetic testing kit is one part of the product, but the other part is information – what knowledge is there about associations between the SNPs on our platform and health traits or conditions? What does your particular data mean? The science is far from exhausted on this subject, and in order to stay up to date with the research, 23andMe spends a lot of effort on curating the scientific literature for new genetic associations and presenting the information on our website for our customers.

Day to day, this means that we keep track of papers recently published in scientific journals, skim through to find ones that may have promising findings, and then vet these more thoroughly to see if they pass our stringent scientific standards. If they do, we extract the bits of information we need and put the bits together in reports that will eventually become part of the content on the website. It’s a job that definitely benefits from an organized system and an eye for detail – as well as a sense of curiosity.”

That is a very helpful passage and I would say that 23andMe excels at public education and building bridges between the general public, the increasingly large numbers of sophisticated health information seekers known as e-Patients (as exemplified by e-Patient Dave) and that the Spittoon and the blog of PatientsLikeMe, The Value of Openness are quite fascinating examples of a new genre—the Health 2.0 company public education blog. I am hoping that medical librarians read this interview, given that more and more consumers are going to learn about developments in clinical research and treatments from such blogs and we need to know about such forums.

And on the related matter of online patient communities and patient and consumer health social networking could you discuss 23andMe’s hopes of creating an active community component? Is that going well? Are you getting much traffic in your online communities? Garnering actual traffic seems to a challenge for many consumer health sites—has 23andMe had much luck in that respect?

23andMe has an active, thriving user community, roughly divided into those interested in Health and those interested in Ancestry, though all users can post in all areas of the community forums. As with any community, we have many who are very passionate about their interests, and many who are simply curious about learning more or in finding people like them. We also have surveys which users are encouraged to fill out about various health and environmental topics, for the purposes of conducting our own research studies. Our first paper using data collected in this way was recently presented at the American Society for Human Genetics conference, with novel associations presented for hair curl, asparagus anosmia (the ability to smell asparagus metabolites in your urine), and hair color.

There have been some layoffs at 23andMe in recent weeks but influential journalists like Wired Magazine executive editor Thomas Goetz seem enamored of 23andMe’s services. That is a pretty strong endorsement. Are you confident about the long-term outlook for 23andMe? I heard your colleague Alex Khomenko speak at the e-Patient Connections Conference 2009
and he certainly did a good job in conveying his conviction that 23andMe is capable of serving the public good by doing good science in the commercial sector. Could you please tell us at what other conferences representatives of 23andMe will appear?

I don’t have any information about conferences in 2010, though there is interest in organizing a session at next year’s ASHG meeting in Washington, D.C.

One of the things that I like about 23andMe and me is that it allows you great freedom to keep up your valuable role in the Open Science community, to the great benefit of science, and therefore of patients down the pipeline. Your elucidation on your blog of such complex matters as the basics of scientific curation is really engaging and edifying, “In science, curation involves organization of scientific knowledge and data. An area where this has been especially important is the life sciences, as the amount of information being generated by high-throughput experiments, large-scale projects, and scholarly publishing has skyrocketed. In order to manage this information and render it useful to others, the field of biocuration was born. Any database that organizes scientific knowledge – UniProt (the Universal Protein resource), FlyBase (database for that very important model organism, Drosophila), PharmGKB (a database focused on how genes and drugs interact), etc – depends on curators to keep the information up to date and easy to use.

And so it is with 23andMe.”

And on that topic, I’d like to get back to your reputation as a go-to person in Open Science. For example, I am helping to plan a conference on the subject and went to one of the giants in the field, Jean-Claude Bradley for advice on determining the possible attendance at such a conference. He suggested that I consult you and you very helpfully suggested that I send up trial balloons in Twitter and FriendFeed. The result was that there did indeed seem to be some excitement about such a conference. I would like to ask you, then, how you use Twitter and FriendFeed to keep up on developments in Open Science and science generally. And does 23andMe have a specific Twitter strategy?

I personally use Twitter and FriendFeed mostly to keep a finger on the pulse of science and technology news and developments. I haven’t contributed as much as I’d like to but it’s very useful for me just to stay abreast of everything that’s happening in the world.

23andMe has a Twitter account as you show above. It’s used mostly to communicate with people interested in our company and our service, to help spread stories people are sharing about their experiences with our products, and to broadcast news about the company or the industry.

You say on your blog, “Since my work is even more directly tied to the literature than it was as a graduate student in academia, I’m also developing an enhanced awareness of issues surrounding scientific publishing – those related to standardization and metadata, publication bias towards positive results, and closed vs. open access.” Could you discuss some of your comments in the article you wrote with Cameron Neylon, “Article-Level Metrics and the Evolution of Scientific Impact?” I was especially interested in the section, “The Trouble with Comments” and found this passage quite interesting, “A spirited, intelligent comment thread can also help raise the profile of an article and engage the broader community in a conversation about the science.

Unfortunately, commenting in the scientific community simply hasn’t worked, at least not generally…Part of this resistance to commenting may relate to technical issues, but the main reason is likely social. For one thing, researchers are unsure how to behave in this new space. We are used to criticizing articles in the privacy of offices and local journal clubs, not in a public, archived forum. Junior researchers may be concerned about the potential repercussions on their own careers…

Another issue is that the majority of people making hiring and granting decisions do not consider commenting a valuable contribution.”

As a fairly recent graduate in the sciences, could you please elaborate on the matter of commenting? Do you think that one can enhance one’s reputation by blogging but that commenting is much less fruitful in that regard? Your comments here are well taken, “…if there is no reward for quality contribution then people will struggle to justify the time involved in generating high quality comments.”

Commenting is one part of the spectrum of scientific content contribution. At one far end is formal publication in a peer-reviewed journal. Commenting online is near the other end of the spectrum in terms of perceived value, but its potential impact is fairly large. Just as reviewer comments on a manuscript can be very helpful, so can less formal comments on a paper. But the barrier to entry is so much lower that commenting has the opportunity to have that much more impact. Of course, that low barrier also means potentially more noise to filter out. And the lack of reward for commenting means that there is little incentive to contribute good comments other than goodwill towards fellow scientists or the scientific enterprise. There is also a tough balance between anonymity and comment quality — anonymity may discourage accountability and foster unhelpful comments, but lack of anonymity may result in reluctance to post honest criticisms, or anything at all.

I do think that blogging is currently placed in higher regard than commenting – depending on the subject matter and quality of the blog, of course. It is also easier to compile a record of blogging than of commenting, since a blog is an archived set of posts in one place, whereas comments may be scattered across a multitude of sites. But Faculty of 1000 is a respected site that is in essence a collection of comments on specific papers, and so there is hope for expanding the scope of scientific contribution to include commenting more generally.

As someone who spends a lot of time looking for grants to list on the site I work on Scangrants, I was quite interested in your comments that those who make granting decisions do not consider commenting a valuable contribution. It will be interesting to see if that changes as those who make grants, such as private foundations and scientific societies, start to adopt social media tools in order to showcase the benefits of their grantmaking activities and engage public interest in them and if the number of venues for comments on scientific projects will increase.

I just left a comment on your article and doing so was fairly easy (provided that one remembers the password for each site where one wants to leave comments). But as you point out, it is hard to see the incentive for doing so except for the warm fuzzies one gets for encouraging scholars engaged in producing such edifying articles.

Could you tell us about the process of writing for PLoS Biology? How did you and Neylon decide to publish your article there? Whose idea was it? Is publishing in such Open Access periodicals any different vis-à-vis process and reaction from readers from publishing in toll access ones?

Writing the ALM article for PLoS was a relatively smooth experience. Cameron had been approached by the PLoS team to write the article, and he contacted me to co-author with him given that it would echo many of the issues I brought up in a recent blog post I’d written. The actual process of submitting the article was done through one of the PLoS Biology editors, rather than the online submission system, and I have not actually gone through the process at a toll-access journal before (I’ve submitted to BMC journals in the past), so I can’t comment too much on the differences. The reaction to the article has been great so far — several thousand views, quite a few comments and ratings, etc. Publishing in an Open Access journal like PLoS (without added media involvement) I’m sure raised the profile of the article to many more viewers than would be possible in a closed-access journal, and being able to gauge this reaction through ALMs is, of course, unique to PLoS.

Finally, who are your heroes in science, scholarship, technology and in any other realm?

Most of the people I admire and look up to are people I’ve had the pleasure of meeting or working with in some capacity. My graduate advisor, Russ Altman, is certainly one. But there are too many to list exhaustively so suffice it to say that these are people who are great teachers, great examples, who are passionate about things and work hard to make things happen, who somehow are able to keep up with everything that’s going on and help edify the rest of us through blogs and social media and podcasts, etc. If you follow the FriendFeed Life Scientists room, you will shortly figure out many of the people I’m talking about.

Thank you for your time, Shirley.

When I asked both of those thought leaders (I know some people hate that term regarding it as pretentious, but it works in this context given the key role people like Dr. Sands and e-Patient Dave play in educating a huge range of people in the healthcare sector about these important issues) who else is one of the leaders in the field of digital health and whom I should try to talk to in order to better understand these matters, they immediately mentioned Ted Eytan, MD MS MPH.

I thereupon emailed Dr. Eytan and he very graciously offered to answer questions I posed to him here by commenting here. Thus, this post is an experiment in Participatory Blogging in that I am asking my questions of Dr. Eytan and we will all see what he says.

I started by goggling Dr. Eytan (I was already familiar with him via his Twitter feed and was quite intrigued by the content of e-Patient Dave’s post, “From Ted Eytan’s blog: “Now Reading: Patients Actually Want Their Entire Medical Record”.

Therefore, I’d like to start off this interview by discussing the relationship between electronic medical record systems and Participatory Medicine.

But first, a bit of background. We all know that Kaiser Permanente has been a leader in the implementation of electronic medical record systems and that it has been generous in sharing the wisdom it has gained in the process.

I would like to start off by asking you, Ted, what position you now hold at the Permanente Federation and when you relocated from Seattle to Washington, DC and how your activities have changed because of that move. Are you working more intensely in the area of national legislation related to healthcare IT, for example? For instance, given your interest in patient access to their entire medical record (and am I correct in statement and would that include absolutely everything in it, including physician notes?) is that legally possible under Health Insurance Portability and Accountability Act (HIPAA) as it now stands or is some legislative change required? Is there anywhere in the US where patients can see via the Web absolutely everything in their record or can they see only large portions of it and transfer much of that to personal health records? When I spoke to Dr. Sands he mentioned several innovative programs. But I am still not clear about the specifics as to what the current state of affairs is vis-à-vis what can be accessed by patients and where such programs exist. And what would such an EMR be called? A participatory EMR? Is there a specific term we should be using?

And on the matter of the promise of Participatory Medicine, would it even be fully realizable without such a participatory EMR? And one of the things that strikes me, as someone who started out in healthcare as a medical records clerk, is that when I attend conferences such as Health 2.0 and the e-Patient Connections Conference 2009
there does not seem to be much representation by the gatekeeping groups who actually make the decisions when it comes to health information management matters such as the American Medical Informatics Association (with the notable exception of Dr. Sands, who serves on its board), the American Health Information Management Association,
and the Healthcare Information and Management Systems Society.

Are many of these groups even aware of the Participatory Medicine movement? Are they ready for it technologically and philosophically?