Whole genome sequencing could save $30 billion by preventing one third of neonatal ICU visits

Nearly 13% of all babies in the U.S. are preemies, a 20% increase since 1990. A 2006 report by the National Academy of Sciences found that the 550,000 preemies born each year in the U.S. run up about $26 billion in annual costs, mostly related to care in NICUs. That represents about half of all the money hospitals spend on newborns. But the number, large as it is, may understate the bill. Norman J. Waitzman, a professor of economics at the University of Utah who worked on the National Academy report, says the study considered just the first five years of the preemies’ lives. Factor in the cost of treating all of the possible lifelong disabilities and the years of lost productivity for the caregivers, and the real tab may top $50 billion. These were estimates using 2005 data. Current costs are two times or more greater.

Doctors estimate that as many as one third of all newborns admitted to neonatal intensive care units in the U.S. suffer from genetic diseases.

A ballpark estimate is that genetic sequencing and repairing (or embryo selection) would then save about $30 billion.

The diagnostic and therapeutic promise of whole-genome sequencing is finally blossoming—at least for babies. Most diseases that afflict adults are caused by a complex array of genetic and environmental factors. But genetic diseases are the leading cause of death in infants, and many are caused by a single-gene mutation. These “monogenic” diseases include well-known conditions such as cystic fibrosis, sickle-cell anemia, and Tay-Sachs disease, as well as thousands of exceedingly rare illnesses that each afflict no more than a handful to a few hundred individuals in the world. This uniqueness makes them very difficult to diagnose clinically, but because they are relatively simple genetically, they are, in theory, easy to diagnose with gene sequencing. Additionally, the cost and time involved has dropped exponentially in the past decade, and bioinformatics software has become much better at matching genetic mutations to known symptoms and conditions. It makes sense, then, that sick babies should be among the first to benefit from the technology.

Since one hospital’s pilot project began, in November 2011, doctors have correctly diagnosed 18 out of 36 mysteriously sick babies—most of whom would have otherwise waited months for a diagnosis, if they survived that long.

Even Kingsmore has been shocked by how fruitful the sequencing efforts have proved to be. “Never did we expect what we’re finding—that the majority of the kids we’re testing would yield a diagnosis. That’s crazy,” he says, especially considering that scientists still don’t understand much of the human genome. Including children that weren’t part of the pilot project, he says, “We have dozens and dozens of stories of kids whose lives have been saved or transformed, their families given hope, because of this inexpensive genetic test.”

About 800 critically ill newborns are admitted to the neonatal intensive care unit at Children’s Mercy Hospital each year.

screening for single-gene disorders is just the beginning. His company has also developed tests that can screen embryos for mutations in the BRCA1 and BRCA2 genes, which increase the risk of breast cancer. He hopes to soon be able to screen embryos for gene defects linked to autism, schizophrenia, and Alzheimer’s too. And then there is the near-reality of whole-genome embryonic screening. While single-gene tests like the one used to screen Sturgeon’s embryos work well when a familial genetic condition is known, many prospective parents are disease carriers without realizing it. Plus, Munné’s research has shown that during conception, as many as 3,000 de novo mutations can arise that no one would be able to predict.

On May 18, 2014, a baby was born whose genome had been sequenced prior to IVF implantation to check for potential genetic mutations—a global first. Although it was just a proof-of-concept run, Munné says that as soon as the cost for whole genome sequencing drops below $1,000—which researchers believe could happen this year—it will be feasible for Reprogenetics to offer preimplantation genome sequencing to families who want it.

Genes, of course, predict far more than disease. So if doctors can create healthy babies, what’s stopping them from making babies with other sought-after characteristics? Not much, some say. “Once you’re able to look at and identify chromosomes in embryos, then you can study everything in that embryo—and the term everything keeps expanding,” explains fertility doctor Jeffrey Steinberg, director of The Fertility Institutes. “People are going to be able to come in and say, ‘I don’t want my baby to have Down syndrome, I want my baby to be a girl, I want my baby not to carry the breast-cancer gene, and I want my baby to have blue eyes.’ ”

Nextbigfuture had already written about using Embryo selection to find smarter babies

I gave a talk at Transhuman Visions a couple of weeks ago.

In my look at near term transhumanism, I see older Tiger Moms as being the driver of early adoption of genetic intelligence enhancement and the lifting of the One child policy in China.

China’s One child policy is being lifted just as embryo selection based upon intelligence for invitro fertilized (IVF) babies becomes possible and we are on the cusp of genetic engineering. Women in China who are now older were banned from having babies but now will be allowed to have children. Many will not be able to conceive naturally and will use IVF. I see IVF going from 400,000 per year worldwide to 2-8 million per year over the next 10 years. IVF babies are more easily embryo selected and accessible for genetic modification. This would provide an economic boost to China in 20-30 years and the beginnings of a significant societal shift.

* Older women use IVF more than younger women.
* Societal shifts that cause more older women to use IVF to have children means more opportunity for embryo selection and genetic intelligence enhancement.
* Countries that permit embyro selection and genetic intelligence enhancement provide the opportunity for IVF to be used for enhancement
* Medical tourism to permissive countries is another means for older women to use IVF in combination with embryo selection or genetic enhancement.

In my talk I first summarized enhancement of human capabilities via products that we can buy. (Smartphones, Google Glass, Apple Siri, IBM Watson, forklifts, cars etc…) As those things get better, anyone can adopt them by buying the latest versions.

Steroids do enhance performance. They work. About 10 million people use them and it is primarily because of vanity. However, we do not live in the wild west or have to compete as Gladiators in Rome. The more powerful people in the world are the billionaires. In the real world the equivalent of Montgomery Burns from the Simpsons has more power than the equivalent of Captain America. Burns can hire his own police force or mercenaries. It is his lawyers and lobbyists who do his work.

100 years ago it was vaccines that began altering the physical attributes of people in a meaningful way. It extended lifespans and improved health. Health improvement boosted productivity and GDP.

I make the case that studies show that more intelligence leads to better lives for people. They go to jail less. Their jobs are better and they divorce less.

Each one-point increase in a country’s average IQ, the per capita GDP was $229 higher. It made an even bigger difference if the smartest 5 percent of the population got smarter; for every additional IQ point in that group, a country’s per capita GDP was $468 higher. This is according to Are the Wealthiest Countries the Smartest Countries? (Heiner Rindermann, of the Chemnitz University of Technology, Psychological Science )

However, we can see the damage when intelligence is lower across large national populations.

48% of children in India are stunted. Diseases can leave brain damage when they do not kill. This reduces IQ points by 11-20 on average across the country. This makes India more poor.

Embryo Selection

* In Vitro Fertilization (IVF) currently is used for 400,000 babies each year.
* A new “Alka Seltzer method” for controlling PH reduces costs from $10K-20K in developed world to about $1K
* Developing world was $2-4K and can be $200
* Comprehensive Chromosome Screening (about $6000) can boost successful IVF by 10-20%

–> Lower costs for IVF means more adoption and widespread basic genetic screening via chromosome screening will already be used for high IVF success rate

* China lifting one child ban
* This will mean annual birthrates will go from about 16 million ==> 25.5 million
* 23-42 normal child bearing age
* IVF at older ages up to 50-55 now at about 5-15% but improving
* More older women in China will use IVF
* China is not culturally against enhancing children (a lot of tiger moms and cultural differences)
* Lower cost and more effective IVF with standard chromosome screening, easy step to gene screening
* Maybe 4 million IVF/year with gene screening

Children tend to fall within a spread of 13 IQ points above and below the average IQ of their parents.
Positive outlier at around 2 or 3 percent where child is two standard deviations above parents
Pick the smartest genome from a batch of, say, 20 embryos (but it could 50 or more embryos) to get 20-30 IQ points higher
We are technologically close to non-destructive sequencing of human gametes and zygotes by sequencing 10-20 cells.

Genetic Engineering for Intelligence

BGI (Beijing Genomics institute has a large intelligence study of thousands of geniuses
Various studies finding genes with up to 0.5% impact on intelligence
Intelligence is 40-80% inheritable
There are likely hundreds to a thousand genes that genetically determine intelligence
Similar to height. According to Steve Hsu’s estimates (based on actual data) most humans have (order of magnitude) 1000 rare (-) alleles for intelligence and height

One standard deviation above average has (very roughly) 30 fewer (-) variants.
No negative alleles might be 30 SD above average! Such a person has yet to exist in human history…
Each standard deviation (SD) up or down are defined as 15 IQ points greater or less,
95 percent of the population scores an IQ between 70 and 130, which is within two standard deviations of the mean.
30 SD above average would be and IQ of 550.

Maybe IQ 550 is Impossible or Meaningless

550 IQ would be like a 13 foot tall person
Physiology limits practical height
What are intelligence limits ?
Brain structure
Average human height is 70 inches and 3 inch SD (standard deviation)
8 feet 1 inch – 97 inches this is 9 Standard Deviations over average
235 IQ is the equivalent in intelligence of a 8 foot 1 inch person

Geniuses and Society

5% of population with 30 points higher intelligence might be about $14000 more GDP per capita
5% of population with 120 points higher intelligence might be about $56000 more GDP per capita
What would a society with tens of millions of Edisons, Einsteins, Steve Jobs and Elon Musks be like ?
Could we get beyond them in capability?

5% of population significantly intelligence enhanced would be possible if IVF takes off and embryo selection and genetic engineering with it over the next 10-20 years.

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