This was the view expressed by President Obama earlier this year at a White House forum on the Precision Medicine Initiative (PMI).[1] In saying this he stoked the fires under the debate concerning who owns medical data, and more specifically, who owns the most fundamental set of data that defines who an individual is – their genomic data. In his statement, President Obama seemed to be coming down firmly on the side of the individual owning his or her own genomic data. His statement also supports one of the key goals of the PMI cohort program: “to set the foundation for a new way of doing research that fosters open, responsible data sharing with the highest regard to participant privacy, and that puts engaged participants at the center of research efforts.”[2]
Whilst there is still some considerable resistance[3] from the global medical community (albeit with some backlash[4]) to broader information-sharing – with the attendant risk that others will interpret the data differently, possibly coming to different conclusions – and patients owning and controlling their own medical data, if Obama’s wish does come to pass then people will have to take control of their own genetic data.[5] Indeed a recent straw-poll has suggested that in five years as many as “twenty million Americans will have obtained and have access to their own genetic information”.[6] These people will need help, and a new business built around personal genomics could very soon become very big!
So what might the “personal genomics business” look like?
In essence there are five high-level “use cases” that make up the set of products and services in the direct to customer (DTC), personal genomics business cycle or “stack”:-
Fig. 1: The Personal Genomics Business Cycle/Stack
1. Sequence my genome
• Whole genome, whole exome, gene panels, etc.
2. Analyze and interpret my genome
• Turn the “raw” sequence data into “refined” information – something interpretable and understandable.
• Provide genetic counselling to individuals based on the refined information they have been given. The FDA has been very clear on the need for this in DTC genetic testing.[7]
3. Store my genomic data
• Securely look after the raw and refined (analyzed) data, whether those data are on physical media (hard-disk or DVDs) or as files in a Cloud-based store.
4. Market and share my genomic data
• Find the right data consumer(s) for that individual’s genomic data.
5. Review (and possibly repeat)
• Science and technology will drive improved knowledge which could inform the individual on how things might have changed with regard to their genomic data, prompting the need to resequence, reanalyze, reinterpret and reassess.
To date the complete, top-to-bottom personal genomics business stack is not fully and comprehensively provided by any one, single supplier. There are a number who offer many of the parts (e.g. Human Longevity, Illumina and perhaps most notably 23andMe with their “Personal Genome Service”); their growth has been driven by ever-cheaper sequencing technology. But it is not easy, currently, for people to do the individual use-cases separately themselves. Carl Zimmer’s recent series, “Game of Genomes”, describes very well both the challenges in this space and the relatively limited things you yourself can do right now with your whole genome.[8]
Looking ahead, I would contend that it is use-case #4 – the marketing and monetizing of an individual’s genomic data, in line with that individual’s personal strategy for making the best use of “their” content – that is the most interesting. Personal genome marketing is the part of the business model that is currently the most under-developed, and although there are some companies starting to offer such a service,[9] I believe it is the part most likely to undergo the biggest expansion and evolution over the next several years. I also believe there is an analogy to this component in another, different business – finance – that could inform us as to how the marketing of personal genomics might develop.
Let’s assume that your set of personal genes, your genome, is analogous to your set of financial assets, your financial portfolio. Your genome, then, is essentially a portfolio of genetic assets.
For your financial portfolio, you, the individual, will have a personal, unique view on what you want to achieve with your money. That personal view will drive not only how, where and with whom you invest those hard-earned dollars – in stocks and shares, bonds, gilts and savings to drive growth (hopefully!) through an appropriate risk- and value-driven, balanced strategy – but it will also govern how much you keep liquid for day-to-day purchases and how much you give away for charitable purposes and other good deeds. Your “genetic portfolio”, your genome, can be viewed in a similar light. Some of your genetic assets will have more “value” than others, and some will have more “risk” attached to them than others. You will want to utilize or “invest” those assets based on a strategy that is personal and unique to you:-
Fig. 2: Strategies for Managing Your Genetic Portfolio
In this context, Value and Risk both have two additional dimensions: (i) how they are perceived by you; (ii) how they are perceived by others. For example a particular piece of your genome might be of comparatively low value to you, but could be of significant interest, and so of higher value, to someone else.
For your “High Value-Low Risk” genes (identified via use-case #2: Analyze and Interpret), you might want to “invest”, safely and securely of course (!), with particular data consumers, e.g. pharmaceutical or biotech companies, who will pay you (say up-front, or on a royalty basis, etc.) to use your data to drive their research activities seeking treatments, for example, for cancer or diabetes or Alzheimer’s. In other words you MONETIZE the part of your genetic portfolio that is Low Risk to you and has High Value to another party, who is willing to pay you for the privilege of using your data. Alternatively, if you are driven by altruism, you may choose to donate or GIVE AWAY your data to academics, or charitable foundations to further the science around, say, rare diseases. To you, the data might be Low Value, but to them it could be extremely High Value! Critically though, to you it is “Low Risk”.
In the “High Risk” space I see two broad scenarios:-
1. “High Risk-Low Value”: For genetic information in this category, you might want to keep it close to you, as it could reveal more about you than you might care to disclose (e.g. genes that could reveal what you look like[10]). These can be viewed as genetic portfolio assets you will want to store and protect ultra-securely, and to be accessible only to you. In essence, this is genetic data you definitely want to ”PUT UNDER THE MATTRESS” away from prying eyes!
2. “High Risk-High Value”: These are the genetic assets you want to watch and manage very closely, but not necessarily hide away forever. Yes, they are high value so you could monetize them very effectively, but there is risk to you in the information being released. These assets could potentially be released if you are certain (as far as you can be) that the data cannot be connected directly to you. They will require the very highest level of security and privacy wrapped around them, and this that may not yet be available. You will want to keep a watching brief on these assets (use-cases #5: Review and #2: Re-analyze) and only “invest” them when you are comfortable either that the level of risk to you has diminished, or if your attitude to risk has changed. For these, you, the seller must beware, or: CAVEAT VENDITOR!
The different choices of how to invest your genetic portfolio and the strategy that uniquely fits your values and needs, suggest to me that there will evolve within the personal genomics business a new role, that of the “Independent Genomics Adviser (IGA)”. This role is different from a genetic counsellor[11] and has a clear analogy in the financial industry – in the US, the Financial Adviser; in the UK, the Independent Financial Adviser (IFA). Just as financial advisers: “provide clients with specialist advice on how to manage their money. The role involves researching the marketplace and recommending the most appropriate products and services available, ensuring clients are aware of and understand products that best meet their needs and then securing a sale”,[12] so an IGA could provide clients with specialist advice on how to manage, market, sell and share their genomic data. IGA’s would have to be governed by legislation and regulation, just like IFA’s, but I can see a time when a Jane Doe could take her genome, suitably analyzed and interpreted, to an IGA who, after ascertaining what she wants to achieve with her genomic assets (personally and financially) and discovering what her position is with respect to risk, will advise her on which organisations she could sell her information to; to which she should donate her data; which assets to watch and wait on; and which to keep well protected. The IGA might even act as Jane’s representative, to protect her anonymity, in any approaches to the different data consumer organisations.
So when your genomic data or content becomes truly yours, as President Obama’s also will at some point in the future, you, like he, will need help, support, business services and a whole load of advice not only to ensure you make the most of your data, but also to ensure you do not make potentially catastrophic decisions on that most personal and sensitive aspect of “you”, your genome. Genetic Counsellors and Independent Genomics Advisers could help you make the best and avoid the worst when you finally get full control of your genomic data.
REFERENCES
1. http://www.nytimes.com/2016/02/26/us/politics/president-obama-weighs-in-on-data-from-genes.html?_r=2
2. https://www.nih.gov/precision-medicine-initiative-cohort-program
3. http://www.nejm.org/doi/full/10.1056/NEJMe1516564 and http://www.nejm.org/doi/full/10.1056/NEJMp1605654
4. http://www.forbes.com/sites/stevensalzberg/2016/08/22/clinical-trials-doctors-demand-ownership-of-patients-data/2/#3daa3d80252b
5. Kish & Topol, Nature Biotechnology 33, 921–924 (2015)
6. https://twitter.com/DShaywitz/status/763759399324168193
7. http://www.forbes.com/sites/roberthof/2015/02/19/in-big-shift-fda-plans-to-let-23andme-market-genetic-tests-to-consumers/#2125e3408dab
8. https://www.statnews.com/feature/game-of-genomes/season-one/
9. See: http://www.wired.com/2013/03/miinome-genetic-marketplace/, http://www.bio-itworld.com/2016/07/06/owning-your-own-data-genos-model.aspx, http://www.helix.com/
10. Shaffer, J.R. et al, “Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology.” PLOS Genetics, 2016; 12 (8): e1006149, http://dx.doi.org/10.1371/journal.pgen.1006149
11. http://nsgc.org/
12. https://www.prospects.ac.uk/job-profiles/financial-adviser