Genetic Future

I’ve stumbled rather late across a very promising new blog on the experience of a consumer genomics customer, Fantastic Voyage. The blog is primarily written by Grant Wood, the senior IT strategist for a clinical genetics institute in Salt Lake City; the premise of the blog is that Wood will discuss his own experience of consumer genetic testing (via a 23andMe genome scan), while receiving input from two advisors: Marc Williams, a medical geneticist, and Janet Williams, a genetic counsellor.

In the two posts so far the highlights have been the insights from Marc Williams. For instance, on his shifting attitude towards direct-to-consumer genetic testing:

When the first Direct-to-Consumer (DTC) genome tests were made
available to the public, my initial response was this is irresponsible
and certainly not ready for use. [...]

As
I reflected more on this I realized that my initial reaction was in
many ways a stereotypical “doctor” response. How dare a patient take
medical care into their own hands? In reality we are asking, nay
encouraging, patients to take more and more responsibility for their
own health and heath decisions. It is hypocritical to encourage
patients to take responsibility on one hand and criticize them for
doing so on the other.
While DTC testing may not be a choice I would
make as a patient, I must be willing to accept that others have a
different perspective. [my emphasis]

It’s refreshing to hear from a clinician who actually values the autonomy of his patients, rather than viewing it as an irritation. (Although I must confess to some concern at the wafty “holistic” feel of the following paragraph, which discusses an approach based on “teachable moments” that is “not necessarily ‘scientific’ or ‘evidence-based'”.)

Williams’ lengthy rumination on the 23andMe legal documents is also entertaining:

I reviewed three documents from 23andMe; the privacy statement, the
consent and waiver and the terms of service. These documents were
respectively 8, 6 and 13 pages long, the last printing in 9 pt. type. I
imported the first two into Word and ran the readability statistics
package. The ease of reading was 31.6 and 34.4 (target being in the
60-70 range) and grade level was nearly 14. Medicare requires that its
patient materials have a readability grade level of 5, and most health
educators recommend nothing higher than 8th grade reading level for
patient-directed material. This raises the question of how well the
materials are understood by the reader (recognizing that in many if not
most cases, the documents aren’t even read).

If personal genomics companies want to be seen as empowering consumers they’ll need to do a better job of obtaining truly informed consent.

I’m looking forward to further installations.

Comments

  1. #1 Kenna
    June 17, 2009

    I also posted a couple tweets about the readability… I think its a valuable point. FOr those of us who have spent many years learning about how to judge readability (and I point out that just using a word of 11 letters with 5 syllables will totally tank anyone’s FK score using word) that it’s a very important issue.

    Getting anything science-rich and with legalese into the 8th grade reading level (I think the average level that most folks use for “lay language” criteria), is very difficult.

    There is a big caveat here though. Using the word program to judge how easily something reads is a problem. The word program uses an algorithm based on lots of averages- sentence complexity, length of sentences, word length, syllables, etc are all there, mashed together. BUt it’s not “smart”… it would score something that actually defined readability as having a low readability score because of the long words and complex structure even though it defines the difficult word (readability in htis case).

    The readability score, a number that reflects how easy a piece of text is to understand by the average person, is achievable through a program in Word.

    The readability score is achievable through a program in word.

    If documents are linked to definitions of difficult words, this makes things more readable, but readability scores aren’t changed using word.

    In the end, content needs to actually be vetted. Vetted by scientists. Vetted by lawyers. Vetted by real people. Most folks don’t spend much time dealing with the last. Using writers with expertise in communicating with this audience is a must when developing content for them.

  2. #2 zayzayem
    June 19, 2009

    Looks very interesting.

    I wonder if Grant will change his mind about his speedy agreement to these agreements in the future once he gets some of his results.

  3. #3 Marc
    June 23, 2009

    Jenna,
    I couldn’t agree more with your comments. I would never use the readability function in Word to formally assess materials. However, for the purposes of the point I was making regarding the user agreements I think its functionality is adequate. It is highly unlikely that the program would score something written at a 5th grade level as a grade level 13.4. My individual ‘vetting’ of the document as a scientist was that it was a difficult read. Several sections required multiple re-readings before I thought I understood what was being said.
    However, your points are well taken and if I reference readability in future posts, I will certainly provide a caveat.

  4. #4 Marc
    June 26, 2009

    It’s interesting to reflect on the negative connotation ‘holistic’ has these days. Perhaps it’s because of its use in advertising products of somewhat dubious value. Its use certainly is likely to raise the hackles of an allopathic physician.
    Still, I want to return to the idea of the teachable moment. I practiced general pediatrics for 10 years before going into genetics and did both general pediatrics and genetics for another 10 years before leaving pediatrics behind. Much of pediatrics is about prevention and providing guidance for parents to improve the health and well-being of their children. I started practice with a set agenda of what needed to be covered at each well child visit. It soon became apparent that not all my great advice was always well received. (Never discuss trigger guards and gun safes with someone wearing a “You’ll get me gun when you pry it from my cold dead fingers” tee shirt for example). So I began to pick my spots. If I was caring for a child with pneumonia or an acute asthmatic attack, I’d emphasize second hand smoke exposure. Many more parents took their smoking outside, or quit if we discussed the problem in this context as opposed to a well child visit. In genetics, people come to see us when they’re concerned about events in the family–a parent with colon cancer, or a sister with breast cancer. They are concerned and they are open to listening and discussing things they can do to monitor or prevent these diseases because they peeked behind the curtain of their own mortality. I doesn’t always work of course, but it’s better than tackling it cold.
    Practicing genetics where there is little to offer patients and parents in the way of a cure, made me realize that practicing medicine is really more about healing than curing. With more and more technology and treatments available, it’s easy to forget this. While I can’t claim many cures, I like to think I heal every day. If that makes me eligible for the holistic label, I can live with that.

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