It Is To A Greater Extent Than Precise, Argues Shaywitz
Monday, November 12, 2018
David Shaywitz as well as roughly others at Twitter convey had roughly non as well as hence overnice things to enjoin virtually this recent post I wrote quoting an article yesteryear Michael Millenson. While I've urged them to post service comments hither (where you lot teach to a greater extent than than 140 characters), they haven't yet. So I'll attempt to summarize the major points piece the number is even as well as hence ripe hither on the blogosphere. (David is rattling clear to give away that he's amongst DNAnexus, a companionship inwards the genomic as well as wellness information management space.)
The full general premise is that Michael as well as I shouldn't live on as well as hence negative virtually a novel authorities plan designed to back upwards "Precision Medicine."
David links outset to an article inwards which he expressed the excitment of existence acquaint for the President's East Room announcement.
As an executive at a relatively immature as well as decidedly ambitious company, it’s hard to depict the excitement as well as sense of remarkable possibility you lot experience sitting inwards the East Room hearing the President of the United United States of America emphasize the fundamental importance of just what it is you lot believe you lot as well as your colleagues are doing. Entrepreneurs are perennially encouraged to follow hockey bang-up Wayne Gretzky’s advice, as well as skate to where you lot intend the puck volition live on going. Now, imagine feeling that the President has simply fired the puck inwards your direction.
In short, he frames the number this means (you tin read the details):
It’s hard non to live on struck yesteryear both the audacity as well as the difficulty of the President’s initiative. Developing effective cures for complex illness is to a greater extent than oftentimes than non far to a greater extent than complicated than identifying a unmarried causative gene.
Nevertheless, in that place are conspicuous examples of progress.
After farther back-and-forth on Twitter, David notes: "My betoken is ACCE framework key to personalized medicine," as well as cites this article he wrote at Forbes.com:
The questions to enquire virtually screening are captured yesteryear the ACCE framework (which I of late highlighted inwards the context of information from wearables, but which was originally developed for genetic testing).
Analytic validity – produce the tests reliably as well as consistently stair out the mutations they enjoin they measure?
Clinical validity – how good does a positive attempt out predict the likelihood of a cancer due to BRCA cistron dysfunction? To what extent tin a negative attempt out live on relied on to conclude that a patient is non at elevated peril of cancer due to BRCA cistron mutation?
Clinical utility – does a positive attempt out render actionable information? King writes that “Among women who behave mutations in BRCA1 or BRCA2, surgical intervention, inwards exceptional risk-reducing salpingo-oophorectomy, reduces peril of both ovarian as well as thorax cancer as well as reduces overall mortality.”
Ethical, legal, as well as social implications: What are the implications of population-level screening? For example, mightiness a negative screening attempt out render a simulated sense of security, resulting inwards reduced vigilance, as well as an ultimately an increase inwards non-BRCA-related thorax cancers?
Comments welcome!
The full general premise is that Michael as well as I shouldn't live on as well as hence negative virtually a novel authorities plan designed to back upwards "Precision Medicine."
David links outset to an article inwards which he expressed the excitment of existence acquaint for the President's East Room announcement.
As an executive at a relatively immature as well as decidedly ambitious company, it’s hard to depict the excitement as well as sense of remarkable possibility you lot experience sitting inwards the East Room hearing the President of the United United States of America emphasize the fundamental importance of just what it is you lot believe you lot as well as your colleagues are doing. Entrepreneurs are perennially encouraged to follow hockey bang-up Wayne Gretzky’s advice, as well as skate to where you lot intend the puck volition live on going. Now, imagine feeling that the President has simply fired the puck inwards your direction.
In short, he frames the number this means (you tin read the details):
It’s hard non to live on struck yesteryear both the audacity as well as the difficulty of the President’s initiative. Developing effective cures for complex illness is to a greater extent than oftentimes than non far to a greater extent than complicated than identifying a unmarried causative gene.
Nevertheless, in that place are conspicuous examples of progress.
After farther back-and-forth on Twitter, David notes: "My betoken is ACCE framework key to personalized medicine," as well as cites this article he wrote at Forbes.com:
The questions to enquire virtually screening are captured yesteryear the ACCE framework (which I of late highlighted inwards the context of information from wearables, but which was originally developed for genetic testing).
Analytic validity – produce the tests reliably as well as consistently stair out the mutations they enjoin they measure?
Clinical validity – how good does a positive attempt out predict the likelihood of a cancer due to BRCA cistron dysfunction? To what extent tin a negative attempt out live on relied on to conclude that a patient is non at elevated peril of cancer due to BRCA cistron mutation?
Clinical utility – does a positive attempt out render actionable information? King writes that “Among women who behave mutations in BRCA1 or BRCA2, surgical intervention, inwards exceptional risk-reducing salpingo-oophorectomy, reduces peril of both ovarian as well as thorax cancer as well as reduces overall mortality.”
Ethical, legal, as well as social implications: What are the implications of population-level screening? For example, mightiness a negative screening attempt out render a simulated sense of security, resulting inwards reduced vigilance, as well as an ultimately an increase inwards non-BRCA-related thorax cancers?
Comments welcome!