Assertion Supported AI assessment confidence: 95% certainty 3/5 debate potential 2/5

Only 0.6% of disease-associated gene mutations have clinical interpretations

Carlos Araya · a16z Podcast | Revisiting the Gene · Jan 2, 2019 · at 3:52

Carlos Araya, CEO of Jungla, addresses the immense knowledge gap in interpreting human genomic variations for clinical diagnostic use.

0:00 / 0:09exact quote · 9.5s
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“If we look across all of the disease-associated genes that we know today, we only have clinical interpretations for roughly . Six percent of the possible mutations in them.”

quote is from the automated transcript, cleaned for reading: filler sounds and stutters are removed, nothing is rephrased. names can be misheard (the analysis reads context, assessments check outside sources). how →

More from Carlos Araya

Assertion Supported
Interpreting novel genetic variants costs 100x to 1000x more than sequencing
“And interpreting each one of those under the current clinical practices costs 50 to a hundred dollars. So we're talking about a hundred to thousand-fold increase in the cost of interpretation relative to the cost of data acquisition.”
Carlos Araya Jan 2, 2019 ▶ 2:59 a16z Podcast | Revisiting the Gene
Assertion Contradicted
Araya: Cancer gene tests find 95 unknown mutations per known mutation
“Those tests will basically find 95 mutations that they have absolutely no clue of what the effects of those mutations are in these important cancer-associated genes per each mutation that is known to cause disease.”
Carlos Araya Jan 2, 2019 ▶ 21:04 a16z Podcast | When Will Genomics Live Up to the Hype?
Assertion Not checkable as stated
Araya: DNA sequencing is the second-fastest advancing technology in history
“We've done a pretty good job at being able to acquire sequence information. That's, you know, some of the fastest advances in technology in the history of mankind. I'm told it's actually only beat by one other technology, which is the sort of the clarity of gl…”
Carlos Araya Jan 2, 2019 ▶ 6:43 a16z Podcast | When Will Genomics Live Up to the Hype?
Assertion Not checkable as stated
Araya: Existing genomic maps lack the functional data needed for applications
“Unfortunately the maps that we have today are really maps of function that just say where things that are, things like genes, biomolecules, where they are encoded in the genome, but it says really nothing about how they function and which parts of the genes do…”
Carlos Araya Jan 2, 2019 ▶ 7:27 a16z Podcast | When Will Genomics Live Up to the Hype?
Assertion Contradicted
Each sequenced genome contains about 100 novel variants in disease genes
“Although there are three million variants identified, There will be roughly a hundred variants that are novel variants in disease-associated genes.”
Carlos Araya Jan 2, 2019 ▶ 2:48 a16z Podcast | Revisiting the Gene
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