Interview with Melanie Swan about personal genomics

Melanie Swan, the principal of MS Futures Group, is an interdisciplinary science generalist and hedge fund manager based in Silicon Valley. Ms. Swan’s educational background includes an MBA in Finance and Accounting from the Wharton School of the University of Pennsylvania, a BA in French and Economics from Georgetown University and recent coursework in bioscience, nanotechnology, physics and computer science.

Ms. Swan’s career has focused on research, finance and entrepreneurship, including founding a technology startup company, GroupPurchase, which aggregated small business buying groups. She was Director of Research at Telecoms Consultancy RHK/Ovum and previously held management and finance positions at iPass in Silicon Valley, J.P. Morgan in New York, Fidelity in Boston and Arthur Andersen in Los Angeles.

Ms. Swan serves as an advisor to research foundations, government agencies, corporations and startups and is active in the community promoting science and technology, and opportunities for women. She designs professional and educational simulations, including “Discontinuity Futures,” “Being an Entrepreneur” and “The Trader’s Pit.” Ms. Swan is the former Treasurer of San Francisco-based non-profit Equal Rights Advocates, an Advisory Board member of the Foundational Questions Institute, Lifeboat Foundation and Accelerating Studies Foundation, a presenter at the Expanding Your Horizons math and science conference and co-moderator of the Philadelphia and Boulder Future Salons, free monthly events discussing science and technology innovations and their implications. Ms. Swan speaks French, Spanish and Portuguese.

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Dr. Mohammad Al-Ubaydli: Welcome to the Patients Know Best podcast. My name is Mohammad and I am delighted to have Melanie Swan on the phone with me today. How are doing Melanie?

Melanie Swan: I am excellent, thank you.

Al-Ubaydli: So, Melanie, I saw you a couple of weeks ago, when you came to speak to the conference in Cambridge, and I was really interested in the genomics research that you were presenting. Give me a little background about your background and your interest in the area.

Melanie Swan: Sure. My name is Melanie Swan. I am an independent researcher based in Palo Alto, California, in the US. I research emerging high-impact life sciences technologies, and have been looking at personalized genomics as a key technology that’s going to be impacting researchers, public health, and individuals. I have specifically focused on emerging patient-driven health care models, as well as personal genomics and how one can actually make use of this information from an individual standpoint. I have been presenting some research, as you mentioned, at a conference at Cambridge and a couple of other conferences here in US at Cold Spring Harbor at the Personal Genomes meeting last week, and there is another meeting, NCHPEG, coming up in Washington DC next week.

Al-Ubaydli: I have to admit that every time I talk to you, there is ton of interesting things to tell me, but I am going to focus today just on the genomic side.

 

I was really interested that you had signed up for a bunch of companies that look at your genome, and you began describing the differences between them and the kind of possibilities through the normal person’s budget rather than researcher’s budget.

 

So tell me, if I am an individual today and I’m thinking about what I can do with my genome, what are the options available to me?

Swan: There are three categories of direct-to-consumer genomics options. The first category is tests for a single condition. This usually costs a few hundred dollars and might include paternity or predispositions for certain diseases like sickle-cell anemia or being a cystic fibrosis carrier. The second tier of tests is essentially looking at large amounts of your genome (600,000 – 1 million SNPs or places where humans may vary) and mapping your specific data to 30-100 different conditions.

 

These prices range from $100 to $1000, and have been coming down. Right now, there are five companies in this direct-to-consumer genomics category:  23andMe, which is financed by Google and Genentech, and four other companies, Navigenics, deCODEme, Pathway Genomics, and Gene Essence. As I mentioned, the prices of the offerings range from about $100 to $1000; 23andMe is offering a special price of $99 through the end of September 2009, otherwise their offering is $399, and the others range up to $1100 at the higher end for this service.

 

The third tier of service is whole human genome sequencing, and this is coming down significantly in price too, but it’s still on the order of $48,000 for the Illumina offering or $68,500 for the Knome offering.

I should mention that while $68,500 sounds expensive, this is down from $350,000 in less than a year, so you can see the Moore’s Law impact in the pricing, and for whole human genome sequencing, it is thought that perhaps $100 or $1000 offerings will be available in one to two years.

Al-Ubaydli: You mentioned Moore’s Law. I think you described to me the Carlson Curves that measure the drop in prices.

Swan: Yes, there is a researcher Rob Carlson who was formally at the University of Washington and he developed Carlson Curves, which are essentially the Moore’s Law analog for life sciences technologies. In fact he finds that in the life sciences segment, Moore’s Law doublings are happening much more quickly. For example, with genomic sequencing, the pace is moving at 10 times improvement per year in the capability of what we can do, versus Moore’s Law which is moving at 1.5 times per year. This is actually giving rise to many challenges in managing the information processing and transfer of all the genomic data that we’re generating now.

Al-Ubaydli: If we’re talking about genome sequencing, which costs, say, $100,000, and we are moving at an effective rate of 10, so how long until we’ll get to $1000 price?

(00:05:04)

Swan: Pacific Biosciences, which is one of the leading third generation DNA sequencing companies, based in Silicon Valley, says that their next-generation technology will be available in the second half of next year (2010), and that it will be $100 to $1000 per person for whole human genome sequencing.

Al-Ubaydli: Okay. So that’s next year. Let’s do this year’s futuristic outlook. Between the single SNP sequencing and paternity tests, and whole human genome sequencing, you find that middle run where there is analysis of the partial genome like with 23andme. If I get an account there, what can I do?

Swan: 23andMe offers sequencing for 111 different conditions, ranging from a variety of complex common diseases such as heart disease, Alzheimer’s disease, cancers and Type 2 diabetes. The company looks at research papers that are coming out on different genomics studies, and maps the SNPs in the studies to the conditions they cover. At any specific genomic location, a person may have the risk allele, essentially a typo, say a “CC” at a certain spot where most other people have a “GG,” meaning possibly being at higher risk for the condition associated with this SNP.

23andMe and the other direct-to-consumer genomics companies look at these different risk alleles or typos in your genome and merge them together for a composite risk score for a certain condition. Let’s look at Type 2 Diabetes for example. Right now companies are generally assessing 10 to 30 different SNPs to determine an estimate for your overall risk for the condition.

Al-Ubaydli: I think that’s the key. I mean, obviously there is something like cystic fibrosis having the sequence, it might tell me, I have cystic fibrosis or I don’t and that’s been around for a while and you may have the symptoms and may get the diagnosis. But this is more about risks for illnesses where different genes have different influences and it’s the combination of influences that may create your final risk score. It’s much more subtle than simply I do have cystic fibrosis or I don’t have cystic fibrosis.

Swan: Yes, it’s probabilistic information, the probability of developing one of these complex common diseases like cancer over a lifetime. One of the complaints against genomic testing is that perhaps it might be too difficult for individuals to receive probabilistic information, the percentage likelihood, as opposed to a definitive yes or no, like if you are a carrier for cystic fibrosis or not as in the example you mentioned.

In fact studies show that people are able to receive probabilistic information and the empowering part for individuals is that the probability aspect makes it actionable. Being at a higher likelihood for a disease means that it is not deterministic and that behavior may be able to shift the potential outcomes concerning a condition.

 

For example, in the case of Alzheimer’s disease, there are studies that midlife cholesterol levels correlate with Alzheimer’s onset, so an unfavorable allele for Alzheimer’s disease could be made actionable by aggressive midlife cholesterol management. A high-profile study from Boston University, the REVEAL study, determined that when people found out that they have the higher risk allele for Alzheimer’s, the ApoE4 mutation, they did take action. They took action in the form of increasing exercise and taking supplements, indicating that some people who are finding out probabilistic higher risk for conditions are interested in this information and take action as a result. This is one example that genomic information is useful to the individual, and that the individual may use this information as a basis for action.

(00:10:08)

Al-Ubaydli: So, I guess then what I am looking for is something that lets me log in and say, actually I have a gene that means that I can process fat quite easily. So, I can eat as much fat as I would like to, for example. But most people I guess, they’re looking for the risk factors that they should avoid this kind of food or they really need to do exercise, because they have a strong indicator of diabetes in their future.

Swan: Right exactly, you bring up the Type 2 diabetes example. If it is determined that an individual is at higher risk for Type 2 diabetes, no matter what age the person is, they could embark on a lifelong management program.

 

Some people suggest that the way personal genomics will matriculate into the public health system is with newborn whole human genome sequencing. Right now in the US, newborns are sequenced for almost 50 different genetic conditions which is unknown to many people, but this would be the logical place to introduce whole human genome sequencing when it becomes inexpensive. Then if we knew a newborn was predisposed, had a higher risk for Type 2 diabetes or other conditions, being in a lifelong avoidance program could be part of their general health plan.

Al-Ubaydli: So, that’s in a couple of years we’re thinking about when it could actually be cheaper to do whole genome sequences then not to do it in terms of the savings to the healthcare systems and patients health in the future.

Swan: Yes. It’s thought that each person is likely to be at higher risk for one of twenty common disease condition like diabetes, heart disease or cancer and that an earlier detection of any one condition would save $100,000 for the healthcare system.

Al-Ubaydli: That’s pretty interesting, the kind of changes you can see coming in public policy, in schools and parents, and in the patients as they grow older. It would be interesting to have newborn genomic sequencing automatically done for them. You have actually helped a lot of people sign up for the direct-to-consumer sequencing services?

Swan: I wouldn’t say that. I do enjoy telling people about the services. I don’t know how many have signed up as a result, but I do know that, in general, the direct-to-consumer genomic services haven’t had a groundswell of adoption yet and that’s a challenge to the industry.

Al-Ubaydli: Well, I tell you what, you’ve filled me in on it. So I want to start using it. What advice would you give me, if I begin sending my samples and logging into websites?

Swan: Well, I think the offerings are fairly similar, so I would select one of the lower-priced services. I think that the 23andMe offering is quite attractive. It’s $99 through the end of September 2009. However, in that offering you don’t actually get your own data, but with the regular $399 offering you do.

 

With any of these services, you might want to select an offering that allows you to download your own data, so that you can look for yourself when a new study comes out regarding a certain gene, whether you have the risk allele for that. Also, with your own data, you will be able to upload it to open source resources like the SNPedia, which is one of the best resources for aggregating research on genes, together with NCBI and PharmGkb, allowing you to look up genes and the associated SNPs and possibly the risk allele letter. There is ample opportunity for entrepreneurs to develop many layers of web resources so that people can understand their genomic information.

Al-Ubaydli: I’m glad you mentioned SNPedia, because the first time I met you, sorry second time I met you, was at HealthCamp Maryland, where Mike Cariaso who is the creator of SNPedia, said randomly, by the way I can analyze anyone’s genomic sequence. You were in the audience and said, I have my own sequence, because you already had a copy downloaded and you ran your sequence through his database, and he began giving you analysis on the spot.

Swan: Exactly, it is amazing to be at a place and time in history where people have their genomic data easily available for analysis with web tools.

Al-Ubaydli: So, I guess that was about 15 months ago. I don’t know if you have checked the website again.

 

(00:15:03)

 

Were you able to see differences since last year in the kind of analysis that it gives you?

Melanie Swan: Yes, Mike Cariaso has been consistently adding new studies and new information to the SNPedia, and there are 35 public genomes on the site that people can analyze, which is more than in any traditional research database. Some are whole (or nearly whole) human genomes such as Craig Venter’s and James Watson’s.

Most of the others are people with 23andMe, deCODEme or other direct-to-consumer sequencing partial genome files that they have uploaded. It’s a nice place to do research to see the largest aggregated set of human genomes that is available right now.

You can upload your own data and make it public, as I chose to do, or keep it private and just review the report yourself. So the SNPedia is quite mindful of different tiers of privacy that people would like to have with their genomic data.

Al-Ubaydli: Incredible. And so the options I have, let’s just get back to 23andMe and the other ones. I know that the $99 23andMe version doesn’t let me download the data so I can put it into SNPedia. But if I went for the full priced version, it’s about $700 or something, is that right?

Melanie Swan: It is $399 for the version where you can obtain your data.

Al-Ubaydli: Okay, this is a bargain. So I’m going to forget about that for now, just get the sequence. But, is there a difference between say Navigenics and 23andMe? I’d heard that Navigenics initially started off with the focus on physicians being involved whereas 23andMe was more consumer-facing.

Melanie Swan: Yes. Some of the companies like Navigenics and deCODEme have both a consumer-facing offering as well as the physician offering. However the main distinguishing aspect between the consumer offerings is the number of conditions covered and the price.

 

Navigenics covers the least number of conditions, only 28, and they are charging $999, but this is down from $2500. In the Navigenics service, they offer a genetic counseling session, but the majority of customers don’t actually take them up on this. The next offering, deCODEme, offers 42 conditions for $985, and Gene Essence offers approximately 50 conditions for $1195.

So three of the five direct consumer offerings are in the $1000 price range, and they are covering fewer conditions than 23andMe who covers 111 conditions for $399. Then the fifth offering is Pathway Genomics, which covers 77 conditions for $249 but checks fewer SNPs, and you may not be able to download your data the way you can with 23andme, deCODEme and Navigenics.

Al-Ubaydli: Now what was interesting in your presentation was that even when the companies are looking at the same sequences, they are different in their interpretations.

Melanie Swan: Right. This is an important analysis, a study I’ve been doing, which is looking at multigenic condition risk assessment. For the interesting conditions, the twenty or so complex disease areas like Type 2 diabetes, heart disease, heart attack, breast cancer, prostate cancer, colorectal cancer, etc., there is not just one SNP, or typo, that would determine your risk for the condition, but rather there are several different SNPs associated with the conditions.

From a scientific standpoint we’re only just starting to understand the phenomenon of how many different genes and SNPs may relate to certain conditions and how they interrelate.

As a result, each of the direct-to- consumer companies has PhD researchers on staff to look for new research studies and decide what’s important. This means that there is no agreement or standard and that each company has their own overall risk interpretation for each condition. If you sign up with multiple companies, you may get different interpretations of your risk.

One of the most notable people surfacing this issue is David Ewing Duncan, a National Geographic author in his ExperimentalMan project and book, where he found that one service said he had a low risk of heart attack while another service said he had a high risk.

I’ve been looking into this more specifically to see how that could be.  I’ve found three different things. First, each company looks at different SNPs. The degree of overlap in SNPs assessed between companies, even at the same locus, is quite different.

(00:20:06)

Second, companies have different quantitative methods by which they assign risk probability. Different companies assign different risk values to the risk allele based on which different underlying studies they are referencing.

In addition, the companies also have another differing methodological step. Some multiply all of the risk allele values into one product to determine an overall risk for the condition and some weigh more important studies more heavily, using a weighted average composite to determine the risk of a certain condition.

Third, the different companies are using a different average baseline risks for conditions. In the total population, for example, deCODEme assesses a 49% chance of heart attacks to the average male, whereas 23andMe assesses 21%, so any personal estimate building up or down from the baseline figure is bound to vary.

In summary, you can see how these three factors, different average population risks, different SNPs and different quantitative methodologies can result in risk interpretations that are quite different. Over time, as knowledge solidifies, offerings could likely converge, and industry standards agreements would help meanwhile.

Al-Ubaydli: How were you able to find out the reasons for these differences? Did they share this information privately or is it publicly available?

Melanie Swan: Almost 100% of my data has come from public information. The transparency is nice; most of the direct-to-consumer genomics companies make lots of information available on their websites such as the different SNPs and research references that they’re using for the different conditions, and to a certain degree their quantitative methodology.

Anyone can go to the websites under the demo accounts area and look at examples of the different conditions. Again this is why I like certain companies. 23andMe, Navigenics, deCODEme and Gene Essence provide a lot of data as to the specific SNPs they assess for each condition.

Other companies like Pathway Genomics do not disclose what SNPs they review, which is much worse from the standpoint of establishing credibility in a customer-facing offering. Consumers need to see specific information to compare and validate the offerings.

Al-Ubaydli: Okay, great. So that’s one company off my list. I definitely support the openness that allows peer review. It must have taken you a long time to collect all this analysis, but I’m really glad that you did, so thank you.

Melanie Swan: You are welcome, it didn’t take that long and I think it could be a helpful analysis.

Al-Ubaydli: So, when someone who is new to a direct-to-consumer genomics website, what do they worry about that they shouldn’t worry about?

Melanie Swan: I think this is one of the reasons that there hasn’t been more adoption of direct-to-consumer genomics in general. People might be worried that genomics is only going to be negative information, things that they don’t want to know. Or they think they may know everything already from family history.

Secondly, people may think that the information is deterministic rather than probabilistic, and may not realize all of the actions that they can take, once they see the data.

Al-Ubaydli: Do you have any advice for communicating with family members about direct-to-consumer genomics testing?

Melanie Swan: Cultural norms haven’t been developed around genomic testing yet. Obviously, your genomic information came directly from your parents and it’s also going to be quite similar amongst siblings and other family members.

Therefore, it’s definitely good to think about discussing testing with your family before you do it, for example, would they want to find out the information you find out, particularly if there is something negative, since it may be the same for them? In my case, I discussed with my family that I was thinking about doing it, and they were quite supportive.

(00:25:00)

Then later I shared the results with them. We looked through my results and I pointed out conditions that were higher or lower risk, and that genomics is only a third of explanation of whether you will get a disease in many cases and that family history, behavior and environment may comprise the majority portion of your health picture. So that was really the context of the discussion when I shared it with my family, overall what can we do to reduce health risks.

Dr. Mohammad Al-Ubaydli: What do people not worry about that you think they should worry about when they start using these kinds of services?

Melanie Swan: Genetic privacy is something people think about quite differently. In general with technology adoption, there is an age tiering that goes on; different age tiers of people may think about and adopt technologies differently.

With genomics, there are three tiers, the 20s tier, the 30-40s tier and the 50-60s+ tier. The 20s tier is the Facebook generation, the social networkers, and in general they are not really concerned with genetic privacy at all.

However, for the other two tiers, the 30s-40s and the 50s-60s+, genetic privacy would probably be cited as one of the top three reasons why they might not participate in such a service.

However, I think that the notion of genetic privacy is Pyrrhic in the sense that we are shedding DNA all the time and it would be quite easy for somebody to collect our DNA if they chose to do so.

In fact, there has already been one lawsuit in the US in regard to a divorce settlement where a wife had her husband’s clothing genotyped and found female DNA that was not her own on it. So the notion of genetic privacy is silly, to think that we can protect that.

There are some interesting cultural reactions to genetic privacy. The UK Genetics Commission has out for comment right now a policy where it would not be illegal to collect somebody else’s DNA, but in order to sequence DNA, you would need to sign a qualified statement that it’s yours or why you have the right to sequence it. This is trying to govern genetic privacy on the sequencing end rather than the collection end.

There is another argument that DNA privacy is not even desirable. We live in an open society, not a dystopia like the example portrayed in the genomics-related movie Gattaca,   and the more genomes we can get sequenced, the more quickly we can make medical progress. Nobody’s genome is perfect, everybody has some potential disease conditions that will be increasingly actionable over time and perhaps we should work on these remedies and not be overly focused on the privacy issue as long as genetic non-discrimination safeguards are in place.

Dr. Mohammad Al-Ubaydli: That’s interesting. Just for the record, the lady who sequenced the genome on her partner’s clothing was later fired because was a state employee at the time and used state equipment to do so. Apparently she was an award winning biologist and a forensic scientist.

This is also an interesting warning in choosing your partner, but presumably hopefully in the next couple of years, the UK will begin making that kind of analysis illegal.

Melanie Swan: Yes.

Dr. Mohammad Al-Ubaydli: And you’re right, privacy should be at the analysis stage because it is unrealistic to try and ban it at the collection stage.

Melanie Swan: Another point I’d like to mention regarding consumer empowerment is that the research community and the public health community have been somewhat paralyzed by genetic and health privacy concerns, and that individuals can reverse this by making their own data openly available. This is the power of individuals having and controlling the use of their own data.

(00:29:58)

Researchers may not be able to look at the genomes of others without their permission, but there may be large public databases like the SNPedia where individuals have open-sourced or contributed their genomes to help with research, which is by the way, conducted by traditional professionals and increasingly any other interested party.

Another example of individuals granting permission to their genomic data could be dating websites where individuals could privately include their genomic information so that carrier status for recessive traits could be automatically assessed in the websites’ matching algorithms.

00:30:28

Dr. Mohammad Al-Ubaydli: A sort of Creative Commons License for genome sequencing?

Melanie Swan: Exactly, it is imaginable that $100 whole human genome sequencing would mean that many people would obtain their data and some portion would be happy to contribute it to public biobanks on the Internet. Even 1% of US adults contributing their data would make a significant health resource. This obviates HIPAA privacy concerns in the US since certainly healthcare professionals cannot disclose patient data, but individuals can post their own data publicly and this may be one of the biggest growing health resources.

For example, 23andme has 30,000 partial genomes in their database, vastly greater than US NIH’s 1,000-2,000 member GWAS studies, and these larger scale databases are already triggering new research findings.

Health social networks like PatientsLikeMe, an open source health community, has the biggest aggregated set of ALS patients in the world. At PatientsLikeMe, people with ALS or twenty or so other conditions come to the website, sign up with a name and picture, and often post daily information about their symptoms, remedies and so on. It is a tremendous resource for pharmaceutical companies or anyone researching ALS or the other diseases to have a pre-aggregated, pre-qualified searchable patient community from which they can source people for clinical trials or other purposes. Patient communities are also starting to run their own clinical trials.

This is another great example of the power of patients, empowered individuals posting their own data openly on the web.

Dr. Mohammad Al-Ubaydli: So just to clarify, when you showed me your 23andMe profile, you actually hadn’t put your identifying details on that, you put a different name. So you could share your genomic data to other people but you wouldn’t also compromise your privacy.

Melanie Swan: Yes, it’s an interesting point. When I first signed up for 23andMe, I used a pseudonym but I would now change that if I did it again. When I uploaded my data publicly to the SNPedia, I did post it with my name, Melanie Swan, and additionally I put a picture of me, so the people can see the phenotype too.

Al-Ubaydli: Okay. So you really actually like your genomic data very clearly identifiable. It was different in the beginning and you’d want to do it differently today.

Melanie Swan: Yes, initially I decided to use a pseudonym when I first signed up with 23andMe, but since then my views have become more open such that I am quite happy for my genome to be publicly available.

Al-Ubaydli: I know that the social network aspect of these genome sites is that you can look at genomes of other people and they can follow you too. Have you learned anything from looking at other people’s sequences?

Melanie Swan: Yes, I am friends with perhaps 30 or 40 people on 23andMe, we are sharing our genome at different levels.

There are two different levels, sharing ancestry and sharing full genomic data. 23andme is a Web 2.0 website with a Comment section at the bottom of many areas for community members to interact. People with certain conditions might find additional information and research on their own and add to the comments such as “recent ‘Nature’ article regarding condition X, here’s the link.”

Haplotype groups is another area where I’ve seen interaction in the social networking sense on the 23andMe site, people comparing genealogy information.

[Cross Talk - 00:34:41 - 00:34:51]

Al-Ubaydli: This sounds really interesting. Is there anything else I should have asked that you would like to talk about?

(00:34:57)

 

Melanie Swan: The reason I have been researching the direct-to-consumer space now is because I think it’s important and high impact. However, the reason I got into it two years ago was from a personal health perspective. Specifically, I have a risk of colon cancer in my family and I wanted to find out from a genetic perspective if I have a higher or lower risk, and use this  information in my decision of whether or not to have a colonoscopy as a preventive screening which wasn’t covered by my insurance plan.

So there is an extremely practical reason that drove my initial sign-up and I have since found genomic data to be interesting in many more ways. In my case, I found out that I did not have higher genetic risk, at least as far as studies that 23andMe is looking at, which we know may not be completely definitive from a scientific perspective yet, but that at least I did not have the risk allele for some known SNPs, information which  I then used in my medical decision-making process.

I have been to two different doctors with my data from 23andMe and the first one said, “I have no idea what to do with this” and the second one said, “genetic data isn’t clinically useful.”

Both of these instances made me realize that healthcare is really shifting and I think the traditional healthcare system will not be the ones to implement preventive medicine and that the PCP, the Primary Care Physician, may go the way of the stockbroker and the elevator operator; replaced by the individual directly accessing automated web services and electronic medical records.

It could relieve pressure on healthcare systems if automated web tools can take care of this first level of medical information and diagnosis that individuals need. A doctor could be just one aspect of the health advisory team of the future. In preventive medicine, there is a notion of n=1, that you do your own health management and even clinical trials on yourself. When n=1, you don’t compare yourself to other people in your demographic category, you compare yourself to your own history, where you were a month ago and over the last months and years. Looking at what’s happening with you, not what’s happening with the demographic average is where we are going from a preventive healthcare perspective.

Al-Ubaydli: Do you have any advice for 00:37:44 clinicians that you are going to bring this information to, they obviously cannot be specialized enough to understand this. They are not geneticists, but this is your PCP and they are going to have about say, 10-20 minutes with you. How should they handle you coming with that information? What’s the best way to do so?

Melanie Swan: Yes, right now most physicians tell patients that genomic information is not valid or actionable yet. What I think is going to happen is that genetic data will actually pass into the public health system easily. I think it will be in the form of tick boxes on the blood test menu that physicians order for patients, and interpreted in ranges.

Physicians are smart individuals and they receive 100-200 hours of continuing medical education in the US. For example, I am involved with some conferences focused on exactly this, presenting the key aspects of genomic medicine to physicians. With a minimum of training, doctors could be able to assess genetic tests quite easily and if somebody is at higher risk for a variety of factors, they may refer them on to a specialist more quickly or for more vigorous screening more quickly for breast cancer or prostate cancer for example.

I think that the genomic data will be rolled up into an easily digestible format for PCPs and that they will be able to incorporate this data into their care regimen without being clinical geneticists themselves.

That’s the end game with genomics in the next several years. Right now what might be useful for a PCP to facilitate the development of preventive medicine is to encourage patients to collect their health histories for input into electronic medical records, and engage in self-tracking, collecting ODLs, Observations of Daily Living, where patients say, keep a headache diary or a pain diary. Physicians are starting to recognize this as a valuable component of a patient’s healthcare record and that it can be incorporated in their care, particularly moving to preventive medicine where n=1.

(00:40:23)

I think any manner of self-tracking that patients are doing, and self-data collection and self-education should be encouraged, and for individuals to seek additional resources on the web and to be rigorous in their analysis since this could be useful for their health. There is a key change occurring in that individuals are starting to perceive health as a self-responsibility rather than the responsibility of the physician.

Al-Ubaydli: I fully agree. I mean, I’ll say that the normal physician has about 1 hour/year with their patient and there is another 8,000 hours if that person has to just be alive and continue with their lives. And if you can get the patient to help you out to collect data during that time, your consultation is much more efficient and also you can integrate a lot more useful data than you can just by asking the patient during that one hour that you have with them.

Melanie Swan: Absolutely, there was a Pew Internet study, The Social Life of Health Information, published in June 2009 finding that 61% of Americans look for health information on the web.

So, it’s clear that we are already in an era of information seekers, all patients are potential health information seekers and physicians should expect that this would be a component of a patient’s knowledge and activities.

Al-Ubaydli: Well, Melanie I really appreciate you helping me to become such an information seeker. I am really excited to sign-up now.

Melanie Swan: Thanks.

Al-Ubaydli: We’ll prep the links to the papers that you mentioned on the website. Thank you very much for being on the call.

Melanie Swan: Excellent. Thank you very much for the opportunity Mo.

Total Duration: 42 minutes

Full transcription provided by Tech-Synergy

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