September 28, 2007
New Technology Detects Human Genetic Structural Variations Faster

Faster and cheaper continues to be the story for genetic sequencing technology.

BRANFORD, Conn., Sept. 27, 2007 – 454 Life Sciences, a Roche company, in collaboration with Yale University researchers today announced that they have developed a method, using the company’s Genome Sequencer system, to identify significant human genetic variability with an unprecedented level of detail. The new method enables researchers to analyze genome-wide structural variations (SV), the gross changes to the genetic code much faster and economically than existing techniques. The study, entitled "Paired-End Mapping Reveals Extensive Genomic Structural Variation in Humans," appears online (ahead of print) today in the journal Science.

Structural variations in chromosomes are things like variable number of repeats of whole genes. We do not all have equal numbers of copies of each gene. People who have more copies of a gene can get more proteins and other pieces made from their greater number of copies. The ability to detect more structural variations and to do so more cheaply and rapidly will speed up the identification and characterization of structural variations in the genome.

Previous studies of human genomic variation tended to look at changes called single nucleotide polymorphism, variations that involve just one nucleotide, commonly referred to as SNP. However, the study published today suggests that structural variation is responsible for a larger number of differences between the genomes of two individuals than SNPs. Furthermore, structural variation may have notable physical effects on an individual. The role that SV plays in human variability has not been well understood because of cost-prohibitive and imprecise technology used in previous research. The novel approach described today in Science, called Paired End Mapping (PEM), used 454 Sequencing to comprehensively study SV at an unmatched level of precision, detecting most of the structural variation in the human genome.

“454 Sequencing enabled us to efficiently identify over 1000 structural variations in two individuals. Our study demonstrates that a large number of SVs are present in the human population and that SV plays a greater role in genetic diversity than SNP,” explained Michael Snyder, PhD., senior author and Lewis B. Cullman Professor of Molecular, Cellular and Developmental Biology and Professor of Molecular Biophysics and Biochemistry; Director of the Yale Center for Genomics and Proteomics. “The widespread occurrence of structural variation and the observation that many genes are affected, suggests that SV is likely to be a major form of human variation. It will be essential to incorporate SV detection in human genome sequencing projects.”

Advances in technologies for genetic sequencing and genetic testing are more important than any of the discoveries that these advances enable. The discoveries become increasingly easier to make as the genetic sequencing equipment becomes increasingly powerful. As the sequencing devices become more powerful we are going to reach a point where the rate of discovery per day will exceed the rate of discovery of the previous decade.

The Cheap DNA sequencing technology we will have 10 to 20 years hence will enable us each to have detailed profiles of all of our individual genetic variations. The low cost and exhaustive identification of genetic differences between humans will allow scientists to do massive comparisons between millions of people of genetic differences, health histories, personalities, cognitive abilities, and other characteristics. Those comparisons will allow us to learn the significance of most genetic differences.

Knowledge about the meaning of genetic differences will lead to widespread use of sperm, egg, and embryo screening when starting pregnancies. People will want to choose which genes they pass on to their offspring. The ability to knowledgeably make such choices will accelerate the rate of human evolution by orders of magnitude. Humans born 50 years from now (assuming the Singularity does not put a stop to human reproduction) will differ greatly from humans today. Future humans (transhumans?) will be far smarter, mentally healthier, better looking, healthier, stronger, and less susceptible to death from accidents or suicide.

Share |      Randall Parker, 2007 September 28 10:32 AM  Biotech Assay Tools


Comments
rsilvetz said at September 28, 2007 6:42 PM:

Randall,

While agreeing mostly with your comments, the problem we have is that the data doesn't really mean all that much. Because we have no real rosetta stone, and really don't speak the language of the cell, the (in)significance of most of these variations is unknown. Even if I were to agree that the variants might mean something, in many ways we have no technology to get in there and change things without killing the organism or worse, selecting eugenically forward without understanding all the corollary genes that might impact things. You yourself have spoken on the dangers of an IQ 180 tradeoff with mental instabilities.

Have you seen, as an information nexus, any tech that might let us get in there and decode matters? Even nanotech right now offers long-term hope but certainly I haven't seen anything that can get in there and change a gene or correct a genomic error.

Thoughts?

joe said at September 28, 2007 7:42 PM:

also there are alot of chances that computers we'll be more intelligent then us in 50 years , so wintelligence might be less important then today (as physical strength is less important then before 200 years) , and not worth the risk and uncertainty that exist in genetic modification.

HellKaiserRyo said at September 28, 2007 9:23 PM:

"While agreeing mostly with your comments, the problem we have is that the data doesn't really mean all that much. Because we have no real rosetta stone, and really don't speak the language of the cell, the (in)significance of most of these variations is unknown. Even if I were to agree that the variants might mean something, in many ways we have no technology to get in there and change things without killing the organism or worse, selecting eugenically forward without understanding all the corollary genes that might impact things. You yourself have spoken on the dangers of an IQ 180 tradeoff with mental instabilities."

Gee... I do not find anything unique about Randall's expatiation about the putative dangers of IQ 180 ubermen. One should watch The Augments trilogy on Star Trek: Enterprise, or Star Trek: The Wrath of Khan. When you have two castes such as the GenRich and the naturals, one can only presage hatred.

The solution: every embryo that gets eugenically enhanced will have to have their capacity for empathy, egalitarianism (as opposed to the propensity to pursue positional goods), and universalism (as opposed to ethnocentrism will have to be significantly enhanced (like at 3 SD above the mean of the human species assuming those traits can be quantified) as a failsafe and this will sunder any detrimental ambition they possess. This will also manumit them from the relatively fruitless quest of acquiring positional goods. Most importantly, even if all humans are not augmented, the augmented humans will use their talents to pursue egalitarian goals such as enhancing all of the children of the next generation (thus eliminating all race differences in intelligence) and eliminating poverty and war.

Of course, few parents would suggest this, but I deem it necessary for order and stability of society. Such traits such as selfishness and greed are simply an undesirable byproducts of human evolution.

HellKaiserRyo said at September 28, 2007 11:03 PM:

"Knowledge about the meaning of genetic differences will lead to widespread use of sperm, egg, and embryo screening when starting pregnancies. People will want to choose which genes they pass on to their offspring. The ability to knowledgeably make such choices will accelerate the rate of human evolution by orders of magnitude. Humans born 50 years from now (assuming the Singularity does not put a stop to human reproduction) will differ greatly from humans today. Future humans (transhumans?) will be far smarter, mentally healthier, better looking, healthier, stronger, and less susceptible to death from accidents or suicide."

Humans, what humans? Most humans should be augmented with brains with carbon nanotube transitors if the "Singularity" happened. Such beings would not be human. However, some people such as Max More and James Hughes are not enthusiastic about the Singularity. Hughes relies on genetic therapies mainly in Citizen Cyborg to augment children. Kurzweil, the doyen Singularitarian, however, isn't so excited by the prospect of designer babies, but designer baby boomers :).

Randall Parker said at September 28, 2007 11:05 PM:

Robert,

First of all, we have tons of existing genetic variations to choose amongst for eugenic purposes. Each person has pairs of chromosomes and can choose which of each pair to give to offspring.

Humans mating with genetically distant humans are already mixing together lots of sets of variations that otherwise hadn't mixed together. Variations that got selected in Europe get mixed in with variations that got selected in Japan or India or Central America. This is from human mating of mixed populations. So why is this going to cause special problems when done intentionally?

Decoding: You mean decoding meaning? We'll do that with massive compares. We can compare a large number of people by a very large list of attributes while also comparing them by genetic variations. The significance of tens or hundreds of thousands of variations will jump out that way.

Granted, some variations create such mild effects that teasing out their significance will be hard. But a genetic comparison of all geniuses and a large number of 80, 90, 100, 110 IQ people will tell is a great deal about which genetic variations increase IQ.

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