Posted on 02/23/2019 7:22:17 AM PST by SeekAndFind
Grace Wilsey couldn’t cry.
As a baby, she would lie limp in her parents’ arms, staring blankly into the distance. Her seizures wouldn’t stop and medical tests showed signs of liver damage. This was all before her second birthday.
Grace’s parents were beside themselves, as any parent would be. They traveled the country visiting specialists. They ran numerous tests, but no one could diagnose Grace’s condition.
“We’ve probably seen over 100 doctors,” Grace’s father said in 2014 when Grace’s symptoms were discovered.
None of them could provide an explanation.
Then, when their daughter turned two years old, the Wilseys tried something else. They had Grace’s entire genome sequenced.
A genome is an organism’s complete set of DNA, including all of its genes. “Genome sequencing” is the process of determining the complete DNA sequence. Think of it like creating a “genetic roadmap,” a complete blueprint of an organism’s genetic material.
What the genetic sequencing uncovered was astounding.
Grace Wilsey had a condition known as NGLY1 Deficiency. In short, the little girl’s NGLY1 genes were mutated. They were like typos in her genetic makeup.
One of the gene mutations prevented the little girl from producing tears. At the time, the disorder was so rare that only six people in the entire world had been diagnosed with it.
Now that the underlying cause is well understood, no time is wasted. Specific therapies can be developed to deal with this unusual genetic mutation.
Rewriting the Rules of Medicine
The story I told you above is just one of millions. It is estimated that some 280 million people suffer from a rare genetic disease. Many of them often live their lives undiagnosed.
But there is hope on the horizon. The method used by the Wilsey family, genome sequencing, is experiencing exponential growth.
The cost of sequencing a human genome has plummeted. The speed of the sequencing technology has grown exponentially. And, thanks to breakthroughs in genetic editing technology, we are on the verge of a complete transformation in medical care.
Soon, we’ll be able to identify genetic diseases like cystic fibrosis or sickle cell anemia years before symptoms present themselves.
Millions of lives will be saved. Hundreds of billions of dollars typically spent on chronic medical care will be eliminated. And investors in a few key companies at the heart of this revolution stand to profit immensely.
Genome Sequencing for $100
The story of how rapid the improvements in genomic sequencing have been is one of the greatest examples of exponential growth, and exponential reduction in costs, in the history of technology.
One simple chart from the National Human Genome Research Institute explains it all. We can see the progression in reducing the cost of sequencing a human genome from $100 million in 2001 all the way down to less than $1,000 in 2016.
Overall, this progression is far faster than that of Moore’s Law, which accurately predicted that the processing power of microprocessors (semiconductors) would roughly double every two years.
From 2001 to 2007, the speed and reduction in costs of genetic sequencing had been moving as fast as Moore’s Law – roughly doubling in speed and halving in cost every 18 months.
But something amazing happened in 2008… Genetic sequencing began accelerating at a speed five times that of Moore’s Law.
Now, unless you’ve been working in the technology sector for a few decades, it might be hard to grasp the significance of this. But I’ve worked as a high-technology executive for 25 years. So take my word for it, nothing in the world of technology to date has developed this quickly. It makes the developments in semiconductors during the last decade actually look slow.
At this rate, the cost to sequence a human genome will drop to only $100 in the near future.
And that changes everything.
We are already starting to see early signs of engagement from the insurance industry at current price points, which are approaching $500.
As of November 1, UnitedHealthcare began covering “whole exome sequencing for patients where clinical presentation is non-specific and does not fit a well-defined syndrome.”
In other words, if a physician knows something is wrong, but can’t figure out what it is, UnitedHealthcare will pay to have the patient’s whole exome sequenced. This will positively impact more than 100 million Americans by providing coverage for this sequencing of rare or undiagnosed conditions.
Think of how much time and pain can be saved when a genetic sequence can tell us almost immediately what is wrong… rather than spending years and potentially millions of dollars pursuing ineffective or sometimes lethal therapies.
Genetic sequencing can often immediately identify the genetic cause of a disease so that physicians can focus on providing the most appropriate therapeutic regimen for the patient.
Almost Endless Applications
The world is just starting to scratch the surface of the kinds of applications that are possible using genetic sequencing. This includes genotyping, sequencing exomes, cancer screening, and whole human genomic sequencing; but what about…
* Screening parents before conception to ensure there are no genetic diseases that might be transferred to the child
* Replacing amniocentesis for a pre-natal test Immuno-oncology
* Therapeutic selection
* Data storage – yes, you can use techniques to store data on DNA
* Diagnosis of rare genetic diseases
* Embryo selection in in vitro fertilization
* Even oil and gas exploration
Because of this rapid increase in the speed of sequencing and the dramatic drop in the cost per sequence, we are going to see explosive growth in these new applications.
Current estimates put the global market for genetic sequencing at $5.1 billion. But by 2023, that market is expected to expand to $18.2 billion. That’s a compounded annual growth rate of almost 20% over the next seven years.
For investors, this is an opportunity that can’t be ignored. One way you could play this emerging trend is by looking at life sciences giant Thermo Fisher Scientific (TMO). It is one of the leading companies for genetic testing equipment.
Or for a more speculative play, Pacific Biosciences (PACB) is worth investigating. PACB specializes in genomic analysis systems and would likely profit as genome sequencing becomes a standard part of healthcare. But treat PACB as a speculation, and be sure to conduct your own research first.
And remember, we are still in the early days. There will be even more exciting ways to profit as genetic sequencing rewrites the rules of medicine.
Regards,
Jeff Brown Editor, Exponential Tech Investor
And Official Wealth Creation Expert to Townhall Media
P.S. Another breakthrough medical technology I’m following is genetic editing. It may sound like science fiction, but it’s giving doctors the power to cure diseases like cystic fibrosis and Huntington’s permanently. And that’s going to make early investors very rich.
Very interesting. Thanks for posting. HEALTH/LIFE BUMP!
Who to insure and who to deny coverage too when they have your information in the computer. Bad genes no life insurance for your. Our underwriting standards that make it difficult to by any type of insurance coverage.
How’s Grace??
Call me shocked. I would think the insurance industry would use these data to determine who they will insure (clean gene people) and who they won’t (people with “bad” genes)...
Because the Y axis of the scale is not linear, the decline on both is much MORE dramatic than pictured.
Exactly...Was she cured? Or did they only discover her ailment?
Wealth creation? Better, less expensive medicine?
The wholly unconstitutional FDA better fix that fright away!!!!
OH GOODY!
Genetic engineering placed under governmental control of “health care”.
What could possibly go wrong with that?
And who will be in charge of “theraputic selection”?
“Call me shocked. I would think the insurance industry would use these data to determine who they will insure (clean gene people) and who they won’t (people with “bad” genes)...”
Indeed, there would also be no shock if it was determined that the insurance industry was a large consumer of “private” ancestry type DNA records (under the table of course).
This wording in the article is also suspect...
As of November 1, UnitedHealthcare began covering “whole exome sequencing for patients where clinical presentation is non-specific and does not fit a well-defined syndrome.”
Clinical presentation..... well-defined syndrome...
These would still be tested for using current, expensive, progressive testing regimen which would keep premiums high dollars flowing to the insurance companies.
Two things medicine will likely not stand for...
Complete diagnostic process (whole body, soup to nuts in a single pass) as opposed to the diagnostic track/ala cart expensive and clunky methods currently in practice.
and
a cure (read gone, never coming back, never an issue again) for anything.
.02
YMMV
KYPD
This is the building block for CRISPR. In China last year, twins were born with modified genes to prevent HIV.
The twins, called Lulu and Nana, reportedly had their genes modified before birth by a Chinese scientific team using the new editing tool CRISPR. The goal was to make the girls immune to infection by HIV, the virus that causes AIDS.
Now, new research shows that the same alteration introduced into the girls’ DNA, deletion of a gene called CCR5, not only makes mice smarter but also improves human brain recovery after stroke, and could be linked to greater success in school.
These two girls are our first meta humans!!
Good point, but the vast population that will not require human genomic sequencing will be unaffected.
I clicked through the article in violation of FReep tradition. The Townhall article seemed noteworthy; however, the guy’s website is a hard-sell bio and high tech investment newsletter. For only $100, you too can be in the know to invest in extremely future tech:
https://secure.bonnerandpartners.com/chain?cid=MKT379251&eid=MKT385353&assetId=AST92716&page=2
Ten screens worth of hyping new tech from biotech to 5g.
NVTA and GBT are two stocks more that are dedicated to this kind of stuff, FWIW.
The value of whole genome sequencing is not as easy or clear-cut as this writer makes it out to be.
1) Everyone has at least one deleterious mutation. This is not an issue if the other parent of your children does not carry any of the same genetic mutations that you have.
2) We are products of genes and environment. You may have genes that predispose you to heart disease, for example, but if you follow a healthy diet and get adequate exercise, you might avoid the heart disease.
3) There are tens of thousands of genes that interact with each other, and we are still in the process of characterizing each gene function. We are a long way from understanding the complex interactions among all of the different genes. So don’t expect a whole genome sequence to tell you everything about your health. It won’t.
4) Having the whole genome sequenced also does not inform about the expression of genes, which are controlled by epigenetic factors, which are DNA modifications that do not change the DNA sequence.
5) Since cancer often arises from somatic (non-germ cell) mutations which often occur as we age, having a whole genome sequence will tell you nothing of your cancer risk. The exception is if you carry a gene variant known to increase cancer risk, such as the BRCA mutations associated with breast cancer. You can have those genes screened for specifically.
6) Disclaimer: I have been using the word “gene” above in a sense that encompasses more than its strict definition. I have used it to include the proteins and RNAs and their functions coded by functional genes, as well as control elements contained in the DNA which are not necessarily components of genes.
7) This is not a complete list of reasons genomic sequencing is not a magic tool to assess or predict health conditions. The bottom line is that it is another tool in the repertoire, not a universal do-it-all gadget.
Thanks, exDemMom.
This article’s half snake oil half tonic.
To see where this is going, watch the predictive programming (aka “movie”) called Gattaca.
You’re welcome.
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