AGBT talk: Ellen Wright Clayton, Vanderbilt University

[Speaker Encourages tweeting and blogging!]

Title: Surfing the tusnami of whole genome sequencing.

Objectives:

  • Complete disclosure of the results of whole genome sequencing could lead to disaster.
  • Suggest strategies to take the flood of information.

Medicine: Based on genetic and environmental contributions. Prevention plays a smaller part in medical care, and is based entirely on phenotype + age.

Future: Personalized medicine [Francis Collins quote on sequencing newborns].

Issues:

  1. Separating the wheat from the chaff: false positives increase as data increases.
  2. Incidental findings: Most people say they want incidental findings, even if they don’t know what that means.  When deciding what results to return, however, there are many categories (reproductive outcome, action ability, personal value, but what about standards in clinical practice?)  The debate about this is ongoing, but possibly paternalistic.
  3. What are the downstream costs?  Parallel debate in radiology where you have to factor in everything – and where the actual cost of following up incidental findings is not trivial.  Maybe it’s not worth following up on everything.
  4. pleiotropy: ApoE4 story and PheWAS (no detail given, but much information available elsewhere.) As we look at genomes, we’ll find a lot of pleotropic effects, which means we’ll have a LOT of incidental effects.
  5. Bad Science: Discussion of “GATTACA”.

[This discussion is subtly directed at an American audience….  finding it less convincing as a Canadian, where healthcare is free, and the cost savings of personal genomics will outweigh the cost of following up on accessory conditions.]

Thus: disclosure of all this information threatens to sweep away the health care system.  [Meh… doubtful.]

Solutions:

  1. Consider utiltiy and and actionability… don’t disclose things until [someone] decides its ready for “primetime”.  [who is this someone who decides this for me?]
  2. Age for testing and disclosure
  3. Impact of costs of follow up
  4. what about people who don’t want to know?

The real question:

  • We all assume we can control who gets access to this data. [No, not really – I assume it is mostly irrelevant to everyone but the person for whom it pertains, unless you’re an american with private healthcare.]

What do we do when the information is available?

  • Better information for electronic medical records
  • Develop better policies now.
  • Patient’s desires will probably play a minor role.  This will be REALLY controversial.  Limits will make people unhappy.

[I’m leaving out the discussion of “parents have a constitutional right to their child’s information”… it’s very much irrelevant and seems like a non-sequitur to me, and childhood stories don’t belong on a blog.  See, I know where to stop blogging.]

To clarify:

  1. Scientific analysis of variations and their impacts must proceed at full speed. [Yes, but why would you assume it isn’t????]  Public doesn’t know it. [Ok, we need to be better at communication.  How about more blogging and tweeting? (-:]
  2. Policies determining access and use.
  3. We need to engage the public and explain what it shows and doesn’t show.  [Communicate limits.  I agree with this, but media needs to be better informed on the point…  yada yada]

If we’re going to “surf the tsunami” of medical data, we have to do a better job of engaging, recognizing that it will be controversial, and knowing it’s limits.

[Interesting talk, but I fail to see most of her points. First question makes light of the American/non-american divide… (-:  ]

4 thoughts on “AGBT talk: Ellen Wright Clayton, Vanderbilt University

  1. Pingback: Tweets that mention AGBT talk: Ellen Wright Clayton, Vanderbilt University | Fejes.ca -- Topsy.com

  2. I saw this talk and agree it was American centric. I also thought it was from the physicians view. Something I’m trying to express beter is that I think the medical community in some ways is fighting the radical changes that are coming about because of availability of information. The speaker has a good point that public aren’t always going to do best thing , for example the anti vaccine movement. But toe tend this to say that I can’t have access to my genome or as the speaker said the genome will be done so it’s controlling it’s use. I just don’t seeing this working especially in a profit driven health care system, if I will pay for it I assume someone will do it for me. The real challenge will be those who have the ability ( presumably education, experience and tools) to utilize the information and those who don’t causing further social divisions based on healthcare

    • That makes sense.
      I just think it’s like any other technology – we’ll have to muddle through to make the right compromises as we go. We didn’t ban televeision because it can misinform people We won’t ban the internet because it can be used to give out bad medical advice. People will just have to deal with the fact that medical information always changes and gets better – and that sometimes the information can be confusing.

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