Is it All in the Genes? Part I - US DHHS Meeting on Consumer-Direct Genome Sequencing

*Blogger's notes:

1. Commentary crossposted @nexthealth.nl.
2. This is a long post. To skip the running panel transcript, scroll down the page for thoughts on the current state of consumer-direct genomics and where the sector may be headed.

Matthew Holt is up next at the Ronald Reagan International Center in DC (July 6, 2008), where the US DHHS has arranged today’s “Understanding the Needs of Consumers in the Use of Genome-based Health Information Services” workshop.

Michael Cowan, Bearing Point and former Navy Surgeon General – opens the panel with a bang, comparing the healthcare sea change taking place courtesy of genomic advances to the recent release of Manhattan Project data.

This area of medical investigation is high-impact, no doubt about it.

To Matthew’s left on the dias is Esther Dyson of Edventure Holdings, flanked by Linda Avey, 23andMe, Inc. To his right, is Rebecca Fisher, MLIS, a patient advocate.

Esther kicks things off by asking the audience how many have had their genomes sequenced. Only 6 raise hesitant hands. She asks how many more would use the procedure if it were free. 6 or so more hands, including mine. Then: “how many of you would never undergo genome sequencing?” Again, 6 or so people agree. That means more than 2/3rds of the audience are undecided. But at least we’re willing to raise our hands…as Esther emphasizes, “value comes from the dialogue.”

They’re starting with Rebecca Fisher, listed as a “Patient Advocate” on the bio sheet. This turns out to be a gross underestimation of Rebecca’s utility. A 47 year old BRCA1 positive, breast cancer survivor and medical librarian, Rebecca says we need to “temper rhetoric about the excitement in all that we are learning.”

Rebecca’s main points:

• Most consumers are not familiar with methods/vernacular surrounding genetic testing – this language is composed of words that belong to something very foreign to most people.

• I’m a medical librarian, so I can figure out how to navigate the system (inference – I have professional tools and experience that place me above the ‘average’ e-patient consumer).

• Both sisters had prophylactic mastectomies. The family later discovered the lab tested RNA rather than DNA – mastectomies were most likely unnecessary.

• Main concern when consumers receive information based on genome sequencing: “There is no person standing at the point of decision for that patient.”

• “This is a subtle and nuanced world. We should proceed with caution. We have no deadline.”

Matthew chimes in and agrees. Heads nod around the room. “In this emerging world of genomic information, there’s a real gap between the information that a person can download and the information that they need to make decisions about their health.”

Point well taken: Access doesn’t guarantee utility. Availability doesn’t equal value.

Esther: Rebecca’s concerns have “very little to do with direct to genetic consumer, and more to do with information and knowledge available to overall consumer.”

Rebecca: “What concerns me is the commodatization of human life - when a kit comes in the mail for you to turn in a cheek swab, and there’s no human being there. That person, I’m just thinking that person is not going to be equipped, if your own doctor is not equipped. I guess I side with the ‘proceed with caution naysayers.’”

Esther: What do we do to better equip doctors?

Rebecca: That’s the central question.

Esther introduces Matthew as a noted healthcare blogger and enfant terrible.

Matthew’s up now, and opens with the idea that he too, would have started a direct-to-consumer genetics firm, except that “I’m not a blonde female, which seems to be a major requirement for running a direct-to-consumer genetic testing in the state of California.”

If you’ve read more than a single entry on The Health Care Blog, you know where Matthew stands on privacy and access related to the sharing and disclosure of health information.

Matthew: “In my view we need to fix insurance coverage first, worry about genomics and privacy second. I’m a good Cambridge-trained Marxist and I believe in socialism and socialism insurance- but I also think things that are cost-effective should be covered. I don’t think it’s clear yet as to whether most genomic testing is cost effective.”

Esther: How would you solve Rebecca’s problem of undereducated doctors?

Contrary to his socialistic tendencies, Matthew has a capitalistic solution: “You have to introduce some level of competition, from other doctors and medical groups and organizations. There is a huge need in this country for medical advocates – in my mind that is personally a fair commercial opportunity. If you have the capability to afford 1-3k for a genetic test, then you can pay 100-200 for a medical coordinator.”

Linda Alvey: “I come at this from completely different direction, having worked in research for 20 years, working with people who are really trying to discover these genetic markers that will lead to personalized care. We’ve had problems finding enough people to run these trials on a scale that delivers actionable information. It’s all about statistical power – and if you don’t have that you don’t get to the endpoints that you need. At 23andMe we’re arming people with the specific information of their genomes - providing a mechanism for taking these results and taking them back to our customers but asking them to participate – let them tell us what diseases do you have, what problems are you having taking drugs, did you have a severe reaction? I don’t want my kids to go through the same thing.”

Linda is an idealist at heart but a capitalist in practice: “Hopefully we’ll get to the endpoint where we work together as a medical community – no one player in this space is going to do it alone.”

Esther: “I think narcissism is underrated. To some extent your genome is just another bit of consumer-information about how fascinating you are.”

Rebecca: “When I look out there I don’t see what Matthew mentioned, a coordinator, an advocate, an ombudsman. And I’d like to see that.”

Me, Matthew, audience: We need a high-tech patient advocate service.

Linda: “Things change for people when there’s a change in their health…it depends on where someone is in their life (lifeline).”

Final thoughts from the panel:

Linda: “At 23andMe we’re having a user gathering tomorrow night, which I’ll miss because I’ll be here at a meeting. But we want to find out what people are doing with that information. How can we be sure people are using this information in ways that positively impact their lives, not OVER acting on data?”

Matthew: Behavioral change is not emphasized via incentives (cultural and economic in this society). I have been tested, got some slightly above normal risk factors, but nothing so immediately catastrophic as Rebecca’s study.

Esther: So your results didn’t influence you to change your behavior?

Mathew: Nope. Because I know I should exercise more and drink less (laughter). I identify with Yankelovich’s “Could Care More demographic” or whatever group it is.

Rebecca: “When my family gets sick, we get really sick, so I don’t know how I would respond to a casual finding. When patient is diagnosed, they get curious, and bring information/questions back to their doctor and the doctor will learn from that.”

Now to everyone’s favorite segment - audience questions:

Q: Privacy and security – are you 100% sure my genome won’t be hacked? (An impossible question, medical information isn’t 100% secure NOW in our paper-based system, nor is financial information).

A: Linda Avey: The banking industry has done fantastic job of making tools and websites that people feel secure about using them…we look to other industries that have already played in the space and developed the technology. We allow people two levels of sharing – the minute people get their genetic information. The minute a new paper (on genetics) comes out people are running about our office and asking each other “do you have it? What do you have?”

A: Matthew: The core problem is what if this data gets out? What are the possible consequences? Most people are concerned about access to healthcare and access to health insurance first…

Q: Reporter from Consumer Reports: Have you found your customers want genetic counseling, and do you offer it?

A: Linda Avey: We haven’t found any direct requests for genetic counseling yet, but we may find this as we move forward….Blogger’s Note: I asked this same question last week in Berci Mesko’s Second Life meeting.

Q: Dr. Jim Evans, I’m a medical geneticist, and I’m a naysayer. I think the emphasis on mass marketing individual genomics takes our eye off the real value of this type of endeavor. I think that understanding our SNPs has incredible potential for illuminating disease, drug targets.

Several other physicians and researchers in the audience voice similar critical viewpoints.

Now some final thoughts based on the panels varied responses, and, despite the title, the lack of e-patient input other than Rebecca’s:

1. Genetic predisposition is not certainty.

Tracking SNPs is like unearthing fossils - we’re looking at the history of a battle, determining cause of death by the autopsy, except we’re not sure how all the organ systems work together yet (SNP webs of interaction).

SNPs are like scars of genes (DNA, RNA), remnants of a response to disease, illness, injury. Mutation, on the other hand, may indicate 100% probability of developing a disease like Huntingtons.

2. The availability of consumer-based genetics tools doesn’t mean 100% of consumers will use them, or even that 10% of consumers who DO opt-in to buying “pay to play” genome sequencing will use results the SAME WAY even some of the time.

3. There is a great deal of debate about the utility and value of of genome sequencing with respect to population versus individual health targets and benefit.

The point that individual, consumer-based genomic sequencing doesn’t reveal “useful medical information” is crap.

I’m not a pedigreed health population worker, so I can’t speak from that perspective.

Let me talk from what I know (admittedly, not a lot). As an e-patient I’d emphasize health information has no power without personal involvement and consequence. All of our healthcare data are merely tools that we decide whether or not to employ.

4. A tool is just a tool, whether it’s a hammer, an alarm clock, a scalpel, or a genomic sequence - what matters is how you use it to achieve your end goal. What is the end goal of consumer-direct genome sequencing? Faster, more complete diagnoses?

This is, by the way, an open-ended question with many answers, which vary widely depending upon whether or not we’re looking at risks/benefits for individual versus systemic, or population-based, healthcare.

Let’s look at one potential individual end-goal for consumer-direct genomics…Diagnoses rock our world because they encapsulate meaning related to how our world will drastically change.

The consequences of reviewing healthcare information related to risk factors, genetic predispositions, etc. for consumers is firmly grounded in the way we view it with respect to potential impact on personal, daily life.

5. So, the consumer-centric genomics industry will mature past the toddler-stage when these developmental stages are complete:

STAGE 1: Provide “medically useful information,” which is anything that helps me learn about my health, risks, alternatives, and options. The industry is already here.

STAGE 2: Cooperate with companies, agencies, and NGOs developing medically useful tools, which are anything that help me engage with/and utilize ‘medically useful information.”

STAGE 3: Provide a petri dish for training providers and patients to interpret, share, and engage in conversations surrounding results of genome sequencing. “Medically useful” staff members in the genomics industry are those that help me consider the risks and benefits of interpreting the data and modifying behavior. They might include physicians, genetics counselors, consumer health coordinators, etc.

Here are some potential industry developments you’ll get from pay to play direct to consumer genetic testing:

1. Genomics testing will spread kind of like Fantasy Football. A few people start doing it. They talk about it at home, at work. You’re curious. How do your genes stack up? It will spread like a social, competitive, interactive game, with growth facilitated by online social networks. Look at the growth of similar activity around the nexus of particular symptom-based communities like Diabetes Mine and Sugarstats.com.

2. CONSUMER availability pushes the market to develop new tools. Consumer popularity pushes increasing market share and utilities for existing players, but also spurs new market segment development. Think about how you use your Ipod. How do you recommend new songs, new books? There will be similar variation in how consumers choose to adopt, access, share, and disseminate genomic information. Or not. Remember, this is a pay-to-play market, like the Lotto or Vegas. You judge risk and return and decide if you want to cough up the cash to get your results.

Because consumer-direct genomics, like consumer-centric care, is opt-in.

Will you pay to play?