[Speaker Encourages tweeting and blogging!]
Title: Surfing the tusnami of whole genome sequencing.
- 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].
- Separating the wheat from the chaff: false positives increase as data increases.
- 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.
- 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.
- 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.
- 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.]
- 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?]
- Age for testing and disclosure
- Impact of costs of follow up
- 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.]
- 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? (-:]
- Policies determining access and use.
- 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… (-: ]