
Founder & CEO @foregenomics, https://nitter.gq/t.co/nBGeNlaZSJ. Genetic health screening designed for children. Exited founder and experienced builder.
San Diego, CA
Joined June 2007
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So here's my take. We have multiple types of billionaires. 1) you have the actual people with $1B cash, that is rare. 2) you have athletes, movie stars, etc. that if you valued like a company (present value of future cash flows + cash) would qualify. Tiger & LeBron worth way more than their reported net worth. 3) You have real CEOs of public cos that could probably sell a billion of stock if they had to but would not be easy. and 4) You have executives that cannot see stock but on paper worth a billion.
The biggest issue with rare disease Tx is late or incorrect diagnosis. The time between symptoms and diagnosis (to be eligible for treatment) can be years. Treatments are most effective when taken as early as possible. Rare disease Tx won't be effective until earlier diagnosis is possible.
FDA is calling on patients, clinicians, and researchers to help identify drugs that could be repurposed to treat chronic and rare diseases and help address other unmet medical needs. Share your ideas to help advance new treatment options. fda.gov/news-events/press-an…
Matt Pelo retweeted
Co-sign.
I'm lucky enough to have a great doctor and access to excellent Bay Area medical care. I've taken lots of standard screening tests over the years and have tried lots of "health tech" devices and tools.
With all this said, by far the most useful preventative medical advice that I've ever received has come from unleashing coding agents on my genome, having them investigate my specific mutations, and having them recommend specific follow-on tests and treatments.
Population averages are population averages, but we ourselves are not averages. For example, it turns out that I probably have a 30x(!) higher-than-average predisposition to melanoma. Fortunately, there are both specific supplements that help counteract the particular mutations I have, and of course I can significantly dial up my screening frequency. So, this is very useful to know.
I don't know exactly how much the analysis cost, but probably less than $100. Sequencing my genome cost a few hundred dollars.
(One often sees papers and articles claiming that models aren't very good at medical reasoning. These analyses are usually based on employing several-year-old models, which is a kind of ludicrous malpractice. It is true that you still have to carefully monitor the agents' reasoning, and they do on occasion jump to conclusions or skip steps, requiring some nudging and re-steering. But, overall, they are almost literally infinitely better for this kind of work than what one can otherwise obtain today.)
There are still lots of questions about how this will diffuse and get adopted, but it seems very clear that medical practice is about to improve enormously. Exciting times!
Matt Pelo retweeted
I'm lucky enough to have a great doctor and access to excellent Bay Area medical care. I've taken lots of standard screening tests over the years and have tried lots of "health tech" devices and tools.
With all this said, by far the most useful preventative medical advice that I've ever received has come from unleashing coding agents on my genome, having them investigate my specific mutations, and having them recommend specific follow-on tests and treatments.
Population averages are population averages, but we ourselves are not averages. For example, it turns out that I probably have a 30x(!) higher-than-average predisposition to melanoma. Fortunately, there are both specific supplements that help counteract the particular mutations I have, and of course I can significantly dial up my screening frequency. So, this is very useful to know.
I don't know exactly how much the analysis cost, but probably less than $100. Sequencing my genome cost a few hundred dollars.
(One often sees papers and articles claiming that models aren't very good at medical reasoning. These analyses are usually based on employing several-year-old models, which is a kind of ludicrous malpractice. It is true that you still have to carefully monitor the agents' reasoning, and they do on occasion jump to conclusions or skip steps, requiring some nudging and re-steering. But, overall, they are almost literally infinitely better for this kind of work than what one can otherwise obtain today.)
There are still lots of questions about how this will diffuse and get adopted, but it seems very clear that medical practice is about to improve enormously. Exciting times!
Those with kids can’t imagine a life without them. Those without kids can’t imagine a life with them. Only one side has experienced both.
Question - is it likely the phishing email came from supplier or Luca? This happened to a partner sending us funds and don’t know where the phishing came from but was really slick - emailed right after internal approvals pretending to be me with a different account number.
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We went viral… in India. Product is US only right now. Is there anyway to fix this? If you know how to game meta organic and ads reach out.
The thing ignored by the Nucleus, Herasight embryo selection debate is ART causes more de novo mutations. IVF is a great tool if natural pregnancy isn’t an option. Embryo selection should be for carriers or an add on to IVF but not pushed to the other 95%+ of pregnancies. Not enough data to know effects yet.
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Parents: Don’t wait for symptoms. @ForeGenomics gives healthy newborns a full genetic screening—1,000+ treatable conditions via simple cheek swab. Cash-pay peace of mind, like Function Health for kids. No insurance, no drama. Seed open. DM for deck. #ParentFirst #Genomics
We are looking for an DTC expert at Fore Genomics foregenomics.com. Experience across paid and organic marketing channels a must. Also must be self starter. We have branding, design and technical content - need someone that knows how to share it with the world. DM if interested.
Matt Pelo retweeted
Great initiative by Florida (and the UK). We recently expanded our screening to over 900 conditions to add in heart health. Designed specifically for newborns and infants. Genetic screening is leading to healthier lives, we see the impact daily at Fore.
forbes.com/sites/williamhase…
Matt Pelo retweeted
Replying to @RareDiseases
@foregenomics is right here and trying. Let's figure out a way to work together to reduce costs to parents. The technology is available and accessible to new parents.
This is good insight but I think it misses the mark a bit. I am not sure what people were expecting from germline genomics, from an evolutionary perspective it seems like humans are designed as a default to be healthy if you eat well, exercise, etc. If everyone was born destined to be sick based on our DNA it wouldn't make much sense. When looking at adult-onset diseases like ALS, Alzheimers, Parkinson's, etc. there are numerous lifestyle and environmental factors involved that it dilute the value of germline WGS. As we push for increased longevity, there will be new diseases we diagnose people with we haven't lived long enough to experience yet. I agree completely with more longitudinal insight and phenotype/genotype studies.
As germline genomics has been focused on diagnostics and adult consumer applications, it has yielded underwhelming results. Diagnostics is growing quickly as it moves sooner in clinical workflows, see $WGS recent earnings for insight on growth in diagnostics and I expect this trend to continue. But diagnostics is still too late and the average time from symptoms to diagnose is multiple years.
That being said, there are ~8-10% of the population that has a genetic disease and that number is growing as more people are screened. It's why we built @foregenomics focused on children. We hope most people that take our test walk away with a negative report but the ones that have a positive report and early diagnosis can be life altering.
Everyone always asks how much a genome costs, but never how much one is worth.
The Advances in Genome Biotechnology (@agbt) conference is celebrating its 25th anniversary in a few days. It's one of my favorite conferences - full stop.
While I'm sad not to be able to attend this year, the FOMO has me reflecting a bit on next-gen sequencing (NGS).
For 25 years, the industry has been drunkenly fixated on reducing the cost of sequencing a human genome.
Nowadays, the amortized price of a leading NGS platform + the associated reagents needed for a 30x whole genome sequence (WGS) is <<$1,000, roughly six orders of magnitude cheaper than it was when AGBT got its start 25 years ago.
Unfortunately, the value of a human genome sequence hasn't increased by the same fold in that time.
For clarity, I'm talking about WGS for germline genetics, not research, not tumor sequencing, not NIPT, etc. This is a very focused point.
The issue is that there just aren't that many high-risk monogenic variants that we can do something about immediately to alter medical management, which is where value comes from.
Everyone knows about BRCA because it's one of the rare examples where, if you have a pathogenic/likely pathogenic (P/LP) variant, we can do something and be relatively certain we're helping you prevent an advanced breast cancer diagnosis.
The bitter pill is that most diseases have vastly more complex genetic etiologies.
This field has tried to push polygenic risk scores (PRS) for years, and they just haven't caught on clinically because they're not simple to interpret and are confounded by ancestral background. I'm also not aware of many controlled, HEOR analyses of system-wide implementation of PRSs for common conditions.
I have been hoping that third-generation sequencing technologies (e.g., single-molecule) would start adding to the genome's value by tacking on historically recalcitrant genomic phenomena at scale - things like tandem repeats, phased variants, structural variants, and more. This might happen, but I'm skeptical it will add an order of magnitude more clinical value, which it needs to do to offset the still-higher price.
The combination of better bioinformatics, swelling global sequence repositories, addition of orthogonal 'omics signals like proteomics, and more, are all helping add to the value of a human genome sequence.
This is candidly what I've been curious about for the wave of groups pioneering DNA foundation models. Will the combination of longer-context windows (enough to grab distal regulatory elements) + other algorithmic innovation start to inject more momentum into the value conversation? If so, I haven't seen it yet.
Thus, it's still a grand challenge, to link genetic variants and phenotypes, accurately and at scale, for everything from a single-nucleotide polymorphism to differential methylation status to large structural rearrangements.
I won't say it's impossible, but it doesn't seem like we're making a massive dent yet. Very (very) happy to be proven wrong on this one.
Matt Pelo retweeted
Genetic diseases can follow various inheritance patterns:
▶️ Autosomal dominant;
▶️ Autosomal recessive;
▶️ Sex-linked inheritance.
Read more about this topic. 👇
sbee.link/pr9ncq6fkx
#GeneticDiseases #ChildHealth
Lot's happening @foregenomics businesswire.com/news/home/2…
Matt Pelo retweeted
Nanny to Mommy: Why Fore Genomics is the Future of Precision Healt... nannytomommy.com/2024/12/why…









