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Wednesday, July 18, 2018

The potential promise and peril of reading your full genome

Interesting ARS Technica series underway.
"The cost of full-genome sequencing is falling so quickly and the actionable insights it can reveal are growing fast enough that this data will eventually be as widely collected as cholesterol levels (perhaps within a decade or so)."


"Actionable insights." That's the key.  From Episode Two:
"A tiny fraction of people might indeed make discoveries that are both horrible and unactionable. A larger fraction could suffer anguish from the sheer ambiguity of what’s divulged. After carefully studying both the psychology and consequences of these situations, Robert is fully convinced that personal genetic information should be made available to any adult who seeks it, after being soundly apprised of the ramifications."
ARS Technica is routinely one of my daily priority stops. Always good stuff there. I'll embed the 3rd episode once it's available.

"Today we open with a heartening story about an infant who went through one of Robert’s studies and may have picked up fifteen IQ points as a direct result (this is neither a metaphor nor an exaggeration)! It’s an early—and perhaps even the first—hard example of how full-genome sequencing at birth could one day save innumerable lives and preclude untold human suffering."

Host Rob Reid on Twitter. And, Robert C. Green, MD, MPH, interviewee. See also here.
(BTW, there are links to the transcripts at the Ars Technica site.)
From one of their papers (pdf):
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial

Whole-genome sequencing (WGS) can facilitate molecular diagnoses and identify genetic variants to characterize disease risks, tailor medications, screen for recessive traits, and more. Dramatic improvements in its cost, speed, and capabilities are fueling expectations that WGS will become an important part of everyday patient care, and some commentators hope that it will streamline diagnoses and enhance disease prevention. Early evidence is promising, but there are concerns that WGS may also initiate a cascade of confirmatory testing and ongoing screening that greatly increases health-care expenditures. Empirical data to inform the discussion are sparse…
Cost-benefit considerations?

I've had a recurrent go at various aspects of genomics issues here.This topic also goes to "Information Ethics."

"We close by discussing a massively ambitious government initiative that’s just gathering steam called “All of Us.” If it delivers on its goals (and doesn’t turn into a DMV-like debacle), it could transform our understanding of health, aging, and disease innumerable times more than the renowned Framingham Heart Study..."
Yeah, that goes to another prior post of mine, "All of Us?" "Personalized Medicine?"


I finished listening intently to all three Reid-Green podcasts. Highly, highly recommended. Well worth your time. About 100 minutes total interview program. They pretty much cover the broad and deep gamut of tech, economic, sociopolitical, and and thorny ethical issues that bear on while genome sequencing. This stuff is coming to the primary care exam room fairly soon, and we are seriously advised to understand what it entails. to wit, from the episode two transcript:
...Think about that, five thousand genes, all sorts of categories we've been talking about, dominant, recessive, pharmacogenomics, and some other things, we put on a one page report for a doctor. 'Cause you know what? They don't wanna learn the discipline of genomics, they just wanna know what's useful to their patient.
And these are primary care doctors?
Primary care doctors.
This is their family doctor, their internist, the person they go to first when they have a sniffle or they're not sure what's going on, so these are not geneticists or genetic counselors, these are the people who will be dealing with this information for hundreds of millions of us real soon now.
And it sounds absurd when you think about it, 'cause genomics is so complicated, you need your specialist. But look, primary care doctors interpret x-rays without being nuclear physicists, they interpret chemistry reports without being chemists, it's really a matter of packaging this and directing them with sufficient clinical support that if they get confused they have somebody to turn to. That's a kind of heretical idea honestly, we have said, "Genetics is so complicated and so scary, only the geneticists should hold onto it", it doesn't make me very popular among many of my confreres in genetics because what I'm saying is, "You know what guys, this is too big for our small specialty, this is something that every doctor's gonna have to deal with."
So we created a one page report, and then we didn't just throw it out there, we put all sorts of safety nets in place. This taping reminds me, we audio taped every interaction between that primary care doctor and that patient, and we transcribed it, and we examined it for errors. We followed their electronic health record in real time to make sure they weren't even ordering something inappropriate… 


THE Health IT event of the year.
I started covering it in 2012.

See their selected 2017 Conference videos. I was always sitting front-row center.

More to come...

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