The following have been revolutionized by the human genome project and subsequent technological innovation in sequencing:
-Non-invasive prenatal diagnostics
-Screening for cancer with cell-free DNA
-Rapid and accurate diagnostics for children with suspected genetic disorders
-Targeted cancer therapeutics
Many of these are already in routine clinical use in high income countries and result in significant improvement in human health.
I worked in genomics for 20 years. I have deep knowledge of biology and medicine. And the reality is, for the amount of money invested, the actionable medical returns have been relatively tiny and industry continues to not invest in sequencers for a good reason.
I agree with this, but I disagree with the following:
> most of the progress did NOT come from HGP data.
Without HGP (Human Genome Project), many biological discoveries in the past two decades would have become much more difficult.
> it's a huge waste of investment until we understand the multigenicity of diseases better
If you don't invest, you will never approach a solution. Applied science goes nowhere without a solid foundation in basic science.
NIPT uses low-coverage sequencing to identify aneuploidies for chromosomes 13,18,21 and some larger microdeletion syndromes - this is not WGS.
Cell free cancer screening is panel based and assays specific, known driver mutations.
Rare disease diagnostics can be WGS based (and some of the rapid 48h WGS studies of NICU babies are compelling from a technical standpoint) but most diagnoses identified via WGS can also be found via WES + chromosomal microarray.
Targeted cancer therapeutic target identification is panel based for most patients, as WGS doesn't identify too many targets for FDA-approved therapies that a panel + IHC + FISH + fusion testing won't.