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Thursday, March 11, 2021

Technological singularity

From Wikipedia, the free encyclopedia

The technological singularity—also, simply, the singularity—is a hypothetical point in time at which technological growth becomes uncontrollable and irreversible, resulting in unforeseeable changes to human civilization. According to the most popular version of the singularity hypothesis, called intelligence explosion, an upgradable intelligent agent will eventually enter a "runaway reaction" of self-improvement cycles, each new and more intelligent generation appearing more and more rapidly, causing an "explosion" in intelligence and resulting in a powerful superintelligence that qualitatively far surpasses all human intelligence.

The first use of the concept of a "singularity" in the technological context was John von Neumann. Stanislaw Ulam reports a discussion with von Neumann "centered on the accelerating progress of technology and changes in the mode of human life, which gives the appearance of approaching some essential singularity in the history of the race beyond which human affairs, as we know them, could not continue". Subsequent authors have echoed this viewpoint.

I. J. Good's "intelligence explosion" model predicts that a future superintelligence will trigger a singularity.

The concept and the term "singularity" were popularized by Vernor Vinge in his 1993 essay The Coming Technological Singularity, in which he wrote that it would signal the end of the human era, as the new superintelligence would continue to upgrade itself and would advance technologically at an incomprehensible rate. He wrote that he would be surprised if it occurred before 2005 or after 2030.

Public figures such as Stephen Hawking and Elon Musk have expressed concern that full artificial intelligence (AI) could result in human extinction. The consequences of the singularity and its potential benefit or harm to the human race have been intensely debated.

Four polls of AI researchers, conducted in 2012 and 2013 by Nick Bostrom and Vincent C. Müller, suggested a median probability estimate of 50% that artificial general intelligence (AGI) would be developed by 2040–2050.

Background

Although technological progress has been accelerating in most areas (though slowing in some), it has been limited by the basic intelligence of the human brain, which has not, according to Paul R. Ehrlich, changed significantly for millennia. However, with the increasing power of computers and other technologies, it might eventually be possible to build a machine that is significantly more intelligent than humans.

If a superhuman intelligence were to be invented—either through the amplification of human intelligence or through artificial intelligence—it would bring to bear greater problem-solving and inventive skills than current humans are capable of. Such an AI is referred to as Seed AI because if an AI were created with engineering capabilities that matched or surpassed those of its human creators, it would have the potential to autonomously improve its own software and hardware or design an even more capable machine. This more capable machine could then go on to design a machine of yet greater capability. These iterations of recursive self-improvement could accelerate, potentially allowing enormous qualitative change before any upper limits imposed by the laws of physics or theoretical computation set in. It is speculated that over many iterations, such an AI would far surpass human cognitive abilities.

Intelligence explosion

Intelligence explosion is a possible outcome of humanity building artificial general intelligence (AGI). AGI may be capable of recursive self-improvement, leading to the rapid emergence of artificial superintelligence (ASI), the limits of which are unknown, shortly after technological singularity is achieved.

I. J. Good speculated in 1965 that artificial general intelligence might bring about an intelligence explosion. He speculated on the effects of superhuman machines, should they ever be invented:

Let an ultraintelligent machine be defined as a machine that can far surpass all the intellectual activities of any man however clever. Since the design of machines is one of these intellectual activities, an ultraintelligent machine could design even better machines; there would then unquestionably be an ‘intelligence explosion,’ and the intelligence of man would be left far behind. Thus the first ultraintelligent machine is the last invention that man need ever make, provided that the machine is docile enough to tell us how to keep it under control.

Good's scenario runs as follows: as computers increase in power, it becomes possible for people to build a machine that is more intelligent than humanity; this superhuman intelligence possesses greater problem-solving and inventive skills than current humans are capable of. This superintelligent machine then designs an even more capable machine, or re-writes its own software to become even more intelligent; this (even more capable) machine then goes on to design a machine of yet greater capability, and so on. These iterations of recursive self-improvement accelerate, allowing enormous qualitative change before any upper limits imposed by the laws of physics or theoretical computation set in.

Other manifestations

Emergence of superintelligence

A superintelligence, hyperintelligence, or superhuman intelligence is a hypothetical agent that possesses intelligence far surpassing that of the brightest and most gifted human minds. "Superintelligence" may also refer to the form or degree of intelligence possessed by such an agent. John von Neumann, Vernor Vinge and Ray Kurzweil define the concept in terms of the technological creation of super intelligence. They argue that it is difficult or impossible for present-day humans to predict what human beings' lives would be like in a post-singularity world.

Technology forecasters and researchers disagree about if or when human intelligence is likely to be surpassed. Some argue that advances in artificial intelligence (AI) will probably result in general reasoning systems that lack human cognitive limitations. Others believe that humans will evolve or directly modify their biology so as to achieve radically greater intelligence. A number of futures studies scenarios combine elements from both of these possibilities, suggesting that humans are likely to interface with computers, or upload their minds to computers, in a way that enables substantial intelligence amplification.

Non-AI singularity

Some writers use "the singularity" in a broader way to refer to any radical changes in our society brought about by new technologies such as molecular nanotechnology, although Vinge and other writers specifically state that without superintelligence, such changes would not qualify as a true singularity.

Speed superintelligence

A speed superintelligence describes an AI that can do everything that a human can do, where the only difference is that the machine runs faster. For example, with a million-fold increase in the speed of information processing relative to that of humans, a subjective year would pass in 30 physical seconds. Such a difference in information processing speed could drive the singularity.

Plausibility

Many prominent technologists and academics dispute the plausibility of a technological singularity, including Paul Allen, Jeff Hawkins, John Holland, Jaron Lanier, and Gordon Moore, whose law is often cited in support of the concept.

Most proposed methods for creating superhuman or transhuman minds fall into one of two categories: intelligence amplification of human brains and artificial intelligence. The speculated ways to produce intelligence augmentation are many, and include bioengineering, genetic engineering, nootropic drugs, AI assistants, direct brain–computer interfaces and mind uploading. Because multiple paths to an intelligence explosion are being explored, it makes a singularity more likely; for a singularity to not occur they would all have to fail.

Robin Hanson expressed skepticism of human intelligence augmentation, writing that once the "low-hanging fruit" of easy methods for increasing human intelligence have been exhausted, further improvements will become increasingly difficult to find. Despite all of the speculated ways for amplifying human intelligence, non-human artificial intelligence (specifically seed AI) is the most popular option among the hypotheses that would advance the singularity.

Whether or not an intelligence explosion occurs depends on three factors. The first accelerating factor is the new intelligence enhancements made possible by each previous improvement. Contrariwise, as the intelligences become more advanced, further advances will become more and more complicated, possibly overcoming the advantage of increased intelligence. Each improvement should beget at least one more improvement, on average, for movement towards singularity to continue. Finally, the laws of physics will eventually prevent any further improvements.

There are two logically independent, but mutually reinforcing, causes of intelligence improvements: increases in the speed of computation, and improvements to the algorithms used. The former is predicted by Moore's Law and the forecasted improvements in hardware, and is comparatively similar to previous technological advances. But there are some AI researchers who believe software is more important than hardware.

A 2017 email survey of authors with publications at the 2015 NeurIPS and ICML machine learning conferences asked about the chance of an intelligence explosion. Of the respondents, 12% said it was "quite likely", 17% said it was "likely", 21% said it was "about even", 24% said it was "unlikely" and 26% said it was "quite unlikely".

Speed improvements

Both for human and artificial intelligence, hardware improvements increase the rate of future hardware improvements. Simply put, Moore's Law suggests that if the first doubling of speed took 18 months, the second would take 18 subjective months; or 9 external months, whereafter, four months, two months, and so on towards a speed singularity. An upper limit on speed may eventually be reached, although it is unclear how high this would be. Jeff Hawkins has stated that a self-improving computer system would inevitably run into upper limits on computing power: "in the end there are limits to how big and fast computers can run. We would end up in the same place; we'd just get there a bit faster. There would be no singularity."

It is difficult to directly compare silicon-based hardware with neurons. But Berglas (2008) notes that computer speech recognition is approaching human capabilities, and that this capability seems to require 0.01% of the volume of the brain. This analogy suggests that modern computer hardware is within a few orders of magnitude of being as powerful as the human brain.

Exponential growth

Ray Kurzweil writes that, due to paradigm shifts, a trend of exponential growth extends Moore's law from integrated circuits to earlier transistors, vacuum tubes, relays, and electromechanical computers. He predicts that the exponential growth will continue, and that in a few decades the computing power of all computers will exceed that of ("unenhanced") human brains, with superhuman artificial intelligence appearing around the same time.
An updated version of Moore's law over 120 Years (based on Kurzweil's graph). The 7 most recent data points are all NVIDIA GPUs.

The exponential growth in computing technology suggested by Moore's law is commonly cited as a reason to expect a singularity in the relatively near future, and a number of authors have proposed generalizations of Moore's law. Computer scientist and futurist Hans Moravec proposed in a 1998 book that the exponential growth curve could be extended back through earlier computing technologies prior to the integrated circuit.

Ray Kurzweil postulates a law of accelerating returns in which the speed of technological change (and more generally, all evolutionary processes) increases exponentially, generalizing Moore's law in the same manner as Moravec's proposal, and also including material technology (especially as applied to nanotechnology), medical technology and others. Between 1986 and 2007, machines' application-specific capacity to compute information per capita roughly doubled every 14 months; the per capita capacity of the world's general-purpose computers has doubled every 18 months; the global telecommunication capacity per capita doubled every 34 months; and the world's storage capacity per capita doubled every 40 months. On the other hand, it has been argued that the global acceleration pattern having the 21st century singularity as its parameter should be characterized as hyperbolic rather than exponential.

Kurzweil reserves the term "singularity" for a rapid increase in artificial intelligence (as opposed to other technologies), writing for example that "The Singularity will allow us to transcend these limitations of our biological bodies and brains ... There will be no distinction, post-Singularity, between human and machine". He also defines his predicted date of the singularity (2045) in terms of when he expects computer-based intelligences to significantly exceed the sum total of human brainpower, writing that advances in computing before that date "will not represent the Singularity" because they do "not yet correspond to a profound expansion of our intelligence."

Accelerating change

According to Kurzweil, his logarithmic graph of 15 lists of paradigm shifts for key historic events shows an exponential trend

Some singularity proponents argue its inevitability through extrapolation of past trends, especially those pertaining to shortening gaps between improvements to technology. In one of the first uses of the term "singularity" in the context of technological progress, Stanislaw Ulam tells of a conversation with John von Neumann about accelerating change:

One conversation centered on the ever accelerating progress of technology and changes in the mode of human life, which gives the appearance of approaching some essential singularity in the history of the race beyond which human affairs, as we know them, could not continue.

Kurzweil claims that technological progress follows a pattern of exponential growth, following what he calls the "law of accelerating returns". Whenever technology approaches a barrier, Kurzweil writes, new technologies will surmount it. He predicts paradigm shifts will become increasingly common, leading to "technological change so rapid and profound it represents a rupture in the fabric of human history". Kurzweil believes that the singularity will occur by approximately 2045. His predictions differ from Vinge's in that he predicts a gradual ascent to the singularity, rather than Vinge's rapidly self-improving superhuman intelligence.

Oft-cited dangers include those commonly associated with molecular nanotechnology and genetic engineering. These threats are major issues for both singularity advocates and critics, and were the subject of Bill Joy's Wired magazine article "Why the future doesn't need us".

Algorithm improvements

Some intelligence technologies, like "seed AI", may also have the potential to not just make themselves faster, but also more efficient, by modifying their source code. These improvements would make further improvements possible, which would make further improvements possible, and so on.

The mechanism for a recursively self-improving set of algorithms differs from an increase in raw computation speed in two ways. First, it does not require external influence: machines designing faster hardware would still require humans to create the improved hardware, or to program factories appropriately. An AI rewriting its own source code could do so while contained in an AI box.

Second, as with Vernor Vinge’s conception of the singularity, it is much harder to predict the outcome. While speed increases seem to be only a quantitative difference from human intelligence, actual algorithm improvements would be qualitatively different. Eliezer Yudkowsky compares it to the changes that human intelligence brought: humans changed the world thousands of times more rapidly than evolution had done, and in totally different ways. Similarly, the evolution of life was a massive departure and acceleration from the previous geological rates of change, and improved intelligence could cause change to be as different again.

There are substantial dangers associated with an intelligence explosion singularity originating from a recursively self-improving set of algorithms. First, the goal structure of the AI might not be invariant under self-improvement, potentially causing the AI to optimise for something other than what was originally intended. Secondly, AIs could compete for the same scarce resources humankind uses to survive.

While not actively malicious, there is no reason to think that AIs would actively promote human goals unless they could be programmed as such, and if not, might use the resources currently used to support humankind to promote its own goals, causing human extinction.

Carl Shulman and Anders Sandberg suggest that algorithm improvements may be the limiting factor for a singularity; while hardware efficiency tends to improve at a steady pace, software innovations are more unpredictable and may be bottlenecked by serial, cumulative research. They suggest that in the case of a software-limited singularity, intelligence explosion would actually become more likely than with a hardware-limited singularity, because in the software-limited case, once human-level AI is developed, it could run serially on very fast hardware, and the abundance of cheap hardware would make AI research less constrained. An abundance of accumulated hardware that can be unleashed once the software figures out how to use it has been called "computing overhang."

Criticisms

Some critics, like philosopher Hubert Dreyfus, assert that computers or machines cannot achieve human intelligence, while others, like physicist Stephen Hawking, hold that the definition of intelligence is irrelevant if the net result is the same.

Psychologist Steven Pinker stated in 2008:

... There is not the slightest reason to believe in a coming singularity. The fact that you can visualize a future in your imagination is not evidence that it is likely or even possible. Look at domed cities, jet-pack commuting, underwater cities, mile-high buildings, and nuclear-powered automobiles—all staples of futuristic fantasies when I was a child that have never arrived. Sheer processing power is not a pixie dust that magically solves all your problems. ...

University of California, Berkeley, philosophy professor John Searle writes:

[Computers] have, literally ..., no intelligence, no motivation, no autonomy, and no agency. We design them to behave as if they had certain sorts of psychology, but there is no psychological reality to the corresponding processes or behavior. ... [T]he machinery has no beliefs, desires, [or] motivations.

Martin Ford in The Lights in the Tunnel: Automation, Accelerating Technology and the Economy of the Future postulates a "technology paradox" in that before the singularity could occur most routine jobs in the economy would be automated, since this would require a level of technology inferior to that of the singularity. This would cause massive unemployment and plummeting consumer demand, which in turn would destroy the incentive to invest in the technologies that would be required to bring about the Singularity. Job displacement is increasingly no longer limited to work traditionally considered to be "routine."

Theodore Modis and Jonathan Huebner argue that the rate of technological innovation has not only ceased to rise, but is actually now declining. Evidence for this decline is that the rise in computer clock rates is slowing, even while Moore's prediction of exponentially increasing circuit density continues to hold. This is due to excessive heat build-up from the chip, which cannot be dissipated quickly enough to prevent the chip from melting when operating at higher speeds. Advances in speed may be possible in the future by virtue of more power-efficient CPU designs and multi-cell processors. While Kurzweil used Modis' resources, and Modis' work was around accelerating change, Modis distanced himself from Kurzweil's thesis of a "technological singularity", claiming that it lacks scientific rigor.

In a detailed empirical accounting, The Progress of Computing, William Nordhaus argued that, prior to 1940, computers followed the much slower growth of a traditional industrial economy, thus rejecting extrapolations of Moore's law to 19th-century computers.

In a 2007 paper, Schmidhuber stated that the frequency of subjectively "notable events" appears to be approaching a 21st-century singularity, but cautioned readers to take such plots of subjective events with a grain of salt: perhaps differences in memory of recent and distant events could create an illusion of accelerating change where none exists.

Paul Allen argued the opposite of accelerating returns, the complexity brake; the more progress science makes towards understanding intelligence, the more difficult it becomes to make additional progress. A study of the number of patents shows that human creativity does not show accelerating returns, but in fact, as suggested by Joseph Tainter in his The Collapse of Complex Societies, a law of diminishing returns. The number of patents per thousand peaked in the period from 1850 to 1900, and has been declining since. The growth of complexity eventually becomes self-limiting, and leads to a widespread "general systems collapse".

Jaron Lanier refutes the idea that the Singularity is inevitable. He states: "I do not think the technology is creating itself. It's not an autonomous process." He goes on to assert: "The reason to believe in human agency over technological determinism is that you can then have an economy where people earn their own way and invent their own lives. If you structure a society on not emphasizing individual human agency, it's the same thing operationally as denying people clout, dignity, and self-determination ... to embrace [the idea of the Singularity] would be a celebration of bad data and bad politics."

Economist Robert J. Gordon, in The Rise and Fall of American Growth: The U.S. Standard of Living Since the Civil War (2016), points out that measured economic growth has slowed around 1970 and slowed even further since the financial crisis of 2007–2008, and argues that the economic data show no trace of a coming Singularity as imagined by mathematician I.J. Good.

In addition to general criticisms of the singularity concept, several critics have raised issues with Kurzweil's iconic chart. One line of criticism is that a log-log chart of this nature is inherently biased toward a straight-line result. Others identify selection bias in the points that Kurzweil chooses to use. For example, biologist PZ Myers points out that many of the early evolutionary "events" were picked arbitrarily. Kurzweil has rebutted this by charting evolutionary events from 15 neutral sources, and showing that they fit a straight line on a log-log chart. The Economist mocked the concept with a graph extrapolating that the number of blades on a razor, which has increased over the years from one to as many as five, will increase ever-faster to infinity.

Potential impacts

Dramatic changes in the rate of economic growth have occurred in the past because of technological advancement. Based on population growth, the economy doubled every 250,000 years from the Paleolithic era until the Neolithic Revolution. The new agricultural economy doubled every 900 years, a remarkable increase. In the current era, beginning with the Industrial Revolution, the world's economic output doubles every fifteen years, sixty times faster than during the agricultural era. If the rise of superhuman intelligence causes a similar revolution, argues Robin Hanson, one would expect the economy to double at least quarterly and possibly on a weekly basis.

Uncertainty and risk

The term "technological singularity" reflects the idea that such change may happen suddenly, and that it is difficult to predict how the resulting new world would operate. It is unclear whether an intelligence explosion resulting in a singularity would be beneficial or harmful, or even an existential threat. Because AI is a major factor in singularity risk, a number of organizations pursue a technical theory of aligning AI goal-systems with human values, including the Future of Humanity Institute, the Machine Intelligence Research Institute, the Center for Human-Compatible Artificial Intelligence, and the Future of Life Institute.

Physicist Stephen Hawking said in 2014 that "Success in creating AI would be the biggest event in human history. Unfortunately, it might also be the last, unless we learn how to avoid the risks." Hawking believed that in the coming decades, AI could offer "incalculable benefits and risks" such as "technology outsmarting financial markets, out-inventing human researchers, out-manipulating human leaders, and developing weapons we cannot even understand." Hawking suggested that artificial intelligence should be taken more seriously and that more should be done to prepare for the singularity:

So, facing possible futures of incalculable benefits and risks, the experts are surely doing everything possible to ensure the best outcome, right? Wrong. If a superior alien civilisation sent us a message saying, "We'll arrive in a few decades," would we just reply, "OK, call us when you get here – we'll leave the lights on"? Probably not – but this is more or less what is happening with AI.

Berglas (2008) claims that there is no direct evolutionary motivation for an AI to be friendly to humans. Evolution has no inherent tendency to produce outcomes valued by humans, and there is little reason to expect an arbitrary optimisation process to promote an outcome desired by humankind, rather than inadvertently leading to an AI behaving in a way not intended by its creators. Anders Sandberg has also elaborated on this scenario, addressing various common counter-arguments. AI researcher Hugo de Garis suggests that artificial intelligences may simply eliminate the human race for access to scarce resources, and humans would be powerless to stop them. Alternatively, AIs developed under evolutionary pressure to promote their own survival could outcompete humanity.

Bostrom (2002) discusses human extinction scenarios, and lists superintelligence as a possible cause:

When we create the first superintelligent entity, we might make a mistake and give it goals that lead it to annihilate humankind, assuming its enormous intellectual advantage gives it the power to do so. For example, we could mistakenly elevate a subgoal to the status of a supergoal. We tell it to solve a mathematical problem, and it complies by turning all the matter in the solar system into a giant calculating device, in the process killing the person who asked the question.

According to Eliezer Yudkowsky, a significant problem in AI safety is that unfriendly artificial intelligence is likely to be much easier to create than friendly AI. While both require large advances in recursive optimisation process design, friendly AI also requires the ability to make goal structures invariant under self-improvement (or the AI could transform itself into something unfriendly) and a goal structure that aligns with human values and does not automatically destroy the human race. An unfriendly AI, on the other hand, can optimize for an arbitrary goal structure, which does not need to be invariant under self-modification. Bill Hibbard (2014) proposes an AI design that avoids several dangers including self-delusion, unintended instrumental actions, and corruption of the reward generator. He also discusses social impacts of AI and testing AI. His 2001 book Super-Intelligent Machines advocates the need for public education about AI and public control over AI. It also proposed a simple design that was vulnerable to corruption of the reward generator.

Next step of sociobiological evolution

Schematic Timeline of Information and Replicators in the Biosphere: Gillings et al.'s "major evolutionary transitions" in information processing.
 
Amount of digital information worldwide (5×1021 bytes) versus human genome information worldwide (1019 bytes) in 2014.

While the technological singularity is usually seen as a sudden event, some scholars argue the current speed of change already fits this description.

In addition, some argue that we are already in the midst of a major evolutionary transition that merges technology, biology, and society. Digital technology has infiltrated the fabric of human society to a degree of indisputable and often life-sustaining dependence.

A 2016 article in Trends in Ecology & Evolution argues that "humans already embrace fusions of biology and technology. We spend most of our waking time communicating through digitally mediated channels... we trust artificial intelligence with our lives through antilock braking in cars and autopilots in planes... With one in three marriages in America beginning online, digital algorithms are also taking a role in human pair bonding and reproduction".

The article further argues that from the perspective of the evolution, several previous Major Transitions in Evolution have transformed life through innovations in information storage and replication (RNA, DNA, multicellularity, and culture and language). In the current stage of life's evolution, the carbon-based biosphere has generated a cognitive system (humans) capable of creating technology that will result in a comparable evolutionary transition.

The digital information created by humans has reached a similar magnitude to biological information in the biosphere. Since the 1980s, the quantity of digital information stored has doubled about every 2.5 years, reaching about 5 zettabytes in 2014 (5×1021 bytes).

In biological terms, there are 7.2 billion humans on the planet, each having a genome of 6.2 billion nucleotides. Since one byte can encode four nucleotide pairs, the individual genomes of every human on the planet could be encoded by approximately 1×1019 bytes. The digital realm stored 500 times more information than this in 2014 (see figure). The total amount of DNA contained in all of the cells on Earth is estimated to be about 5.3×1037 base pairs, equivalent to 1.325×1037 bytes of information.

If growth in digital storage continues at its current rate of 30–38% compound annual growth per year, it will rival the total information content contained in all of the DNA in all of the cells on Earth in about 110 years. This would represent a doubling of the amount of information stored in the biosphere across a total time period of just 150 years".

Implications for human society

In February 2009, under the auspices of the Association for the Advancement of Artificial Intelligence (AAAI), Eric Horvitz chaired a meeting of leading computer scientists, artificial intelligence researchers and roboticists at Asilomar in Pacific Grove, California. The goal was to discuss the potential impact of the hypothetical possibility that robots could become self-sufficient and able to make their own decisions. They discussed the extent to which computers and robots might be able to acquire autonomy, and to what degree they could use such abilities to pose threats or hazards.

Some machines are programmed with various forms of semi-autonomy, including the ability to locate their own power sources and choose targets to attack with weapons. Also, some computer viruses can evade elimination and, according to scientists in attendance, could therefore be said to have reached a "cockroach" stage of machine intelligence. The conference attendees noted that self-awareness as depicted in science-fiction is probably unlikely, but that other potential hazards and pitfalls exist.

Frank S. Robinson predicts that once humans achieve a machine with the intelligence of a human, scientific and technological problems will be tackled and solved with brainpower far superior to that of humans. He notes that artificial systems are able to share data more directly than humans, and predicts that this would result in a global network of super-intelligence that would dwarf human capability. Robinson also discusses how vastly different the future would potentially look after such an intelligence explosion. One example of this is solar energy, where the Earth receives vastly more solar energy than humanity captures, so capturing more of that solar energy would hold vast promise for civilizational growth.

Hard vs. soft takeoff

In this sample recursive self-improvement scenario, humans modifying an AI's architecture would be able to double its performance every three years through, for example, 30 generations before exhausting all feasible improvements (left). If instead the AI is smart enough to modify its own architecture as well as human researchers can, its time required to complete a redesign halves with each generation, and it progresses all 30 feasible generations in six years (right).

In a hard takeoff scenario, an AGI rapidly self-improves, "taking control" of the world (perhaps in a matter of hours), too quickly for significant human-initiated error correction or for a gradual tuning of the AGI's goals. In a soft takeoff scenario, AGI still becomes far more powerful than humanity, but at a human-like pace (perhaps on the order of decades), on a timescale where ongoing human interaction and correction can effectively steer the AGI's development.

Ramez Naam argues against a hard takeoff. He has pointed that we already see recursive self-improvement by superintelligences, such as corporations. Intel, for example, has "the collective brainpower of tens of thousands of humans and probably millions of CPU cores to... design better CPUs!" However, this has not led to a hard takeoff; rather, it has led to a soft takeoff in the form of Moore's law. Naam further points out that the computational complexity of higher intelligence may be much greater than linear, such that "creating a mind of intelligence 2 is probably more than twice as hard as creating a mind of intelligence 1."

J. Storrs Hall believes that "many of the more commonly seen scenarios for overnight hard takeoff are circular – they seem to assume hyperhuman capabilities at the starting point of the self-improvement process" in order for an AI to be able to make the dramatic, domain-general improvements required for takeoff. Hall suggests that rather than recursively self-improving its hardware, software, and infrastructure all on its own, a fledgling AI would be better off specializing in one area where it was most effective and then buying the remaining components on the marketplace, because the quality of products on the marketplace continually improves, and the AI would have a hard time keeping up with the cutting-edge technology used by the rest of the world.

Ben Goertzel agrees with Hall's suggestion that a new human-level AI would do well to use its intelligence to accumulate wealth. The AI's talents might inspire companies and governments to disperse its software throughout society. Goertzel is skeptical of a hard five minute takeoff but speculates that a takeoff from human to superhuman level on the order of five years is reasonable. Goerzel refers to this scenario as a "semihard takeoff".

Max More disagrees, arguing that if there were only a few superfast human-level AIs, that they would not radically change the world, as they would still depend on other people to get things done and would still have human cognitive constraints. Even if all superfast AIs worked on intelligence augmentation, it is unclear why they would do better in a discontinuous way than existing human cognitive scientists at producing super-human intelligence, although the rate of progress would increase. More further argues that a superintelligence would not transform the world overnight: a superintelligence would need to engage with existing, slow human systems to accomplish physical impacts on the world. "The need for collaboration, for organization, and for putting ideas into physical changes will ensure that all the old rules are not thrown out overnight or even within years."

Immortality

In his 2005 book, The Singularity is Near, Kurzweil suggests that medical advances would allow people to protect their bodies from the effects of aging, making the life expectancy limitless. Kurzweil argues that the technological advances in medicine would allow us to continuously repair and replace defective components in our bodies, prolonging life to an undetermined age. Kurzweil further buttresses his argument by discussing current bio-engineering advances. Kurzweil suggests somatic gene therapy; after synthetic viruses with specific genetic information, the next step would be to apply this technology to gene therapy, replacing human DNA with synthesized genes.

K. Eric Drexler, one of the founders of nanotechnology, postulated cell repair devices, including ones operating within cells and utilizing as yet hypothetical biological machines, in his 1986 book Engines of Creation.

According to Richard Feynman, it was his former graduate student and collaborator Albert Hibbs who originally suggested to him (circa 1959) the idea of a medical use for Feynman's theoretical micromachines. Hibbs suggested that certain repair machines might one day be reduced in size to the point that it would, in theory, be possible to (as Feynman put it) "swallow the doctor". The idea was incorporated into Feynman's 1959 essay There's Plenty of Room at the Bottom.

Beyond merely extending the operational life of the physical body, Jaron Lanier argues for a form of immortality called "Digital Ascension" that involves "people dying in the flesh and being uploaded into a computer and remaining conscious."

History of the concept

A paper by Mahendra Prasad, published in AI Magazine, asserts that the 18th-century mathematician Marquis de Condorcet was the first person to hypothesize and mathematically model an intelligence explosion and its effects on humanity.

An early description of the idea was made in John Wood Campbell Jr.'s 1932 short story "The last evolution".

In his 1958 obituary for John von Neumann, Ulam recalled a conversation with von Neumann about the "ever accelerating progress of technology and changes in the mode of human life, which gives the appearance of approaching some essential singularity in the history of the race beyond which human affairs, as we know them, could not continue."

In 1965, Good wrote his essay postulating an "intelligence explosion" of recursive self-improvement of a machine intelligence.

In 1981, Stanisław Lem published his science fiction novel Golem XIV. It describes a military AI computer (Golem XIV) who obtains consciousness and starts to increase his own intelligence, moving towards personal technological singularity. Golem XIV was originally created to aid its builders in fighting wars, but as its intelligence advances to a much higher level than that of humans, it stops being interested in the military requirement because it finds them lacking internal logical consistency.

In 1983, Vernor Vinge greatly popularized Good's intelligence explosion in a number of writings, first addressing the topic in print in the January 1983 issue of Omni magazine. In this op-ed piece, Vinge seems to have been the first to use the term "singularity" in a way that was specifically tied to the creation of intelligent machines:

We will soon create intelligences greater than our own. When this happens, human history will have reached a kind of singularity, an intellectual transition as impenetrable as the knotted space-time at the center of a black hole, and the world will pass far beyond our understanding. This singularity, I believe, already haunts a number of science-fiction writers. It makes realistic extrapolation to an interstellar future impossible. To write a story set more than a century hence, one needs a nuclear war in between ... so that the world remains intelligible.

In 1985, in "The Time Scale of Artificial Intelligence", artificial intelligence researcher Ray Solomonoff articulated mathematically the related notion of what he called an "infinity point": if a research community of human-level self-improving AIs take four years to double their own speed, then two years, then one year and so on, their capabilities increase infinitely in finite time.

Vinge's 1993 article "The Coming Technological Singularity: How to Survive in the Post-Human Era", spread widely on the internet and helped to popularize the idea. This article contains the statement, "Within thirty years, we will have the technological means to create superhuman intelligence. Shortly after, the human era will be ended." Vinge argues that science-fiction authors cannot write realistic post-singularity characters who surpass the human intellect, as the thoughts of such an intellect would be beyond the ability of humans to express.

In 2000, Bill Joy, a prominent technologist and a co-founder of Sun Microsystems, voiced concern over the potential dangers of the singularity.

In 2005, Kurzweil published The Singularity is Near. Kurzweil's publicity campaign included an appearance on The Daily Show with Jon Stewart.

In 2007, Eliezer Yudkowsky suggested that many of the varied definitions that have been assigned to "singularity" are mutually incompatible rather than mutually supporting. For example, Kurzweil extrapolates current technological trajectories past the arrival of self-improving AI or superhuman intelligence, which Yudkowsky argues represents a tension with both I. J. Good's proposed discontinuous upswing in intelligence and Vinge's thesis on unpredictability.

In 2009, Kurzweil and X-Prize founder Peter Diamandis announced the establishment of Singularity University, a nonaccredited private institute whose stated mission is "to educate, inspire and empower leaders to apply exponential technologies to address humanity's grand challenges."[110] Funded by Google, Autodesk, ePlanet Ventures, and a group of technology industry leaders, Singularity University is based at NASA's Ames Research Center in Mountain View, California. The not-for-profit organization runs an annual ten-week graduate program during summer that covers ten different technology and allied tracks, and a series of executive programs throughout the year.

In politics

In 2007, the Joint Economic Committee of the United States Congress released a report about the future of nanotechnology. It predicts significant technological and political changes in the mid-term future, including possible technological singularity.

Former President of the United States Barack Obama spoke about singularity in his interview to Wired in 2016:

One thing that we haven't talked about too much, and I just want to go back to, is we really have to think through the economic implications. Because most people aren't spending a lot of time right now worrying about singularity—they are worrying about "Well, is my job going to be replaced by a machine?"

Predictive medicine

From Wikipedia, the free encyclopedia

Predictive medicine is a field of medicine that entails predicting the probability of disease and instituting preventive measures in order to either prevent the disease altogether or significantly decrease its impact upon the patient (such as by preventing mortality or limiting morbidity).

While different prediction methodologies exist, such as genomics, proteomics, and cytomics, the most fundamental way to predict future disease is based on genetics. Although proteomics and cytomics allow for the early detection of disease, much of the time those detect biological markers that exist because a disease process has already started. However, comprehensive genetic testing (such as through the use of DNA arrays or full genome sequencing) allows for the estimation of disease risk years to decades before any disease even exists, or even whether a healthy fetus is at higher risk for developing a disease in adolescence or adulthood. Individuals who are more susceptible to disease in the future can be offered lifestyle advice or medication with the aim of preventing the predicted illness.

Current genetic testing guidelines supported by the health care professionals discourage purely predictive genetic testing of minors until they are competent to understand the relevancy of genetic screening so as to allow them to participate in the decision about whether or not it is appropriate for them. Genetic screening of newborns and children in the field of predictive medicine is deemed appropriate if there is a compelling clinical reason to do so, such as the availability of prevention or treatment as a child that would prevent future disease.

The goal

The goal of predictive medicine is to predict the probability of future disease so that health care professionals and the patient themselves can be proactive in instituting lifestyle modifications and increased physician surveillance, such as bi-annual full body skin exams by a dermatologist or internist if their patient is found to have an increased risk of melanoma, an EKG and cardiology examination by a cardiologist if a patient is found to be at increased risk for a cardiac arrhythmia or alternating MRIs or mammograms every six months if a patient is found to be at increased risk for breast cancer. Predictive medicine is intended for both healthy individuals ("predictive health") and for those with diseases ("predictive medicine"), its purpose being to predict susceptibility to a particular disease and to predict progression and treatment response for a given disease.

A number of association studies have been published in scientific literature that show associations between specific genetic variants in a person's genetic code and a specific disease. Association and correlation studies have found that a female individual with a mutation in the BRCA1 gene has a 65% cumulative risk of breast cancer. Additionally, new tests from Genetic Technologies LTD and Phenogen Sciences Inc. comparing non-coding DNA to a woman's lifetime exposure to estrogen can now determine a woman's probability of developing estrogen positive breast cancer also known as sporadic breast cancer (the most prevalent form of breast cancer). Genetic variants in the Factor V gene is associated with an increased tendency to form blood clots, such as deep vein thrombosis (DVTs). Genetics tests are expected to reach the market more quickly than new medicines. Myriad Genetics is already generating revenue from genetic tests for BRCA1 and BRCA2.

Aside from genetic testing, predictive medicine utilizes a wide variety of tools to predict health and disease, including assessments of exercise, nutrition, spirituality, quality of life, and so on. This integrative approach was adopted when Emory University and Georgia Institute of Technology partnered to launch the Predictive Health Institute. Predictive medicine changes the paradigm of medicine from being reactive to being proactive and has the potential to significantly extend the duration of health and to decrease the incidence, prevalence and cost of diseases.

Types

Notable types of predictive medicine through health care professionals include:

  • Carrier testing: Carrier testing is done to identify people who carry one copy of a gene mutation that, when present in both copies, causes a genetic disorder. This type of testing is offered to individuals who have genetic disorder in their family history or to people in ethnic groups with increased risk of certain genetic diseases. If both parents are tested, carrier testing can provide information about a couple's risk of having a child with a genetic disorder.
  • Diagnostic testing: Diagnostic testing is conducted to aid in the specificity diagnosis or detection of a disease. It is often used to confirm a particular diagnosis when a certain condition is suspected based on the subject's mutations and physical symptoms. The diversity in diagnostic testing ranges from common consulting room tests such as measuring blood pressure and urine tests to more invasive protocols such as biopsies.
  • Newborn screening: Newborn screening is conducted just after birth to identify genetic disorders that can be treated early in life. This testing of infants for certain disorders is one of the most widespread uses of genetic screening - all US states currently test infants for phenylketonuria and congenital hypothyroidism. US state law mandates collecting a sample by pricking the heel of a newborn baby to obtain enough blood to fill a few circles on filter paper labeled with names of infant, parent, hospital, and primary physician.
  • Prenatal testing: Prenatal testing is used to look for diseases and conditions in a fetus or embryo before it is born. This type of testing is offered for couples who have an increased risk of having a baby with a genetic or chromosomal disorder. Screening can determine the sex of the fetus. Prenatal testing can help a couple decide whether to abort the pregnancy. Like diagnostic testing, prenatal testing can be noninvasive or invasive. Non-invasive techniques include examinations of the woman's womb through ultrasonography or maternal serum screens. These non-invasive techniques can evaluate risk of a condition, but cannot determine with certainty if the fetus has a condition. More invasive prenatal methods are slightly more risky for the fetus and involve needles or probes being inserted into the placenta or chorionic villus sampling.

Health benefits

The future of medicine's focus may potentially shift from treating existing diseases, typically late in their progression, to preventing disease before it sets in. Predictive health and predictive medicine is based on probabilities: while it evaluates susceptibility to diseases, it is not able to predict with 100% certainty that a specific disease will occur. Unlike many preventive interventions that are directed at groups (e.g., immunization programs), predictive medicine is conducted on an individualized basis. For example, glaucoma is a monogenic disease whose early detection can allow to prevent permanent loss of vision. Predictive medicine is expected to be most effective when applied to polygenic multifactorial disease that are prevalent in industrialized countries, such as diabetes mellitus, hypertension, and myocardial infarction. With careful usage, predictive medicine methods such as genetic screens can help diagnose inherited genetic disease caused by problems with a single gene (such as cystic fibrosis) and help early treatment. Some forms of cancer and heart disease are inherited as single-gene diseases and some people in these high-risk families may also benefit from access to genetic tests. As more and more genes associated with increased susceptibility to certain diseases are reported, predictive medicine becomes more useful.

Direct-to-consumer genetic testing

Direct-to-Consumer (DTC) genetic testing enables a consumer to screen his or her own genes without having to go through a health care professional. They can be ordered without the permission of a physician. Variety in DTC tests range from those testing for mutations associated with cystic fibrosis to breast cancer alleles. DTC tests make the applicability of predictive medicine very real and accessible to consumers. Benefits of DTC testing include this accessibility, privacy of genetic information, and promotion of proactive health care. Risks of obtaining DTC testing are the lack of governmental regulation and the interpreting of genetic information without professional counseling.

Limitations of predictive medicine

On a protein level, structure is less conserved than sequence. Therefore, in many diseases, having the faulty gene still does not necessarily mean someone will get the disease. Common, complex diseases in the wider population are affected not only by heredity, but also by external causes such as lifestyle and environment. Therefore, genes are not perfect predictors of future health; individuals with both the high risk form of the gene and those without are all candidates to get the disease. Multiple factors in the environment, particular smoking, diet and exercise, infection, and pollution; play important roles and can be more important than genetic make-up. This makes the results and risks determined by predictive medicine more difficult to quantify. Furthermore, the potential false positives or false negatives that may arise from a predictive genetic screen can cause substantial unnecessary strain on the individual.

Targeting medication to people who are genetically susceptible to a disease but do not yet show the symptoms of it can be a questionable measure. In large populations, there is concern that likely most of the people taking preventative medications would never have developed the disease anyway. Many medications carry undesirable side effects that high risk individuals must then cope with. In contrast, several populations-based prevention measures (such as encouraging healthy diets or banning tobacco advertising) carry a far lower likelihood of adverse effects and are also less expensive.

Another potential downfall of commercially available genetic testing lies within the psychological impacts of accessibility to such data. For single-gene inherited diseases, counseling and the right to refuse a test (the right "not to know") have been found to be important. However, adequate individual counseling can be difficult to employ to the potentially large proportion of the population likely to be identified as at high risk of common complex disease. Some people are vulnerable to adverse psychological reactions to genetic predictions of stigmatized or feared conditions, such as cancer or mental illness.

Ethics and law

Predictive medicine ushers in a number of sensitive legal and ethical issues. There is a delicate balance that presides over predictive medicine and occupational health: if an employee were dismissed because he was found to be at risk of a certain chemical agent used in his workplace, would his termination be considered discrimination or an act of prevention? Several organizations believe that legislation is needed to prevent insurers and employers from using predictive genetic test results to decide who gets insurance or a job: "Ethical considerations, and legal, are fundamental to the whole issue of genetic testing. The consequences for individuals with regard to insurance and employment are also of the greatest importance, together with the implications for stigma and discrimination." In the future, people may be required to reveal genetic predictions about their health to their employers or insurers. The grim prospect of discrimination based on a person's genetic make-up can lead to a "genetic underclass" which does not receive equal opportunity for insurance and employment.

Currently in the United States, health insurers do not require applicants for coverage to undergo genetic testing. Genetic information is under the same protection of confidentiality as other sensitive health information under the Health Insurance Portability and Accountability Act (HIPAA) when health insurers come across it. In the United States, the Genetic Information Nondiscrimination Act, signed into law by President Bush on May 21, 2008; prohibits health insurers from denying coverage or charging differentials in premiums, and bars employers from making job placement or hiring/firing decisions based on individuals' genetic predispositions.

Genetic counseling

From Wikipedia, the free encyclopedia

Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease; this field is considered necessary for the implementation of genomic medicine. The process integrates:

  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
  • Education about inheritance, testing, management, prevention, resources
  • Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk

History

The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called “genetics”. Heredity became intertwined with social reforms when the field of modern eugenics took form. Although initially well-intentioned, ultimately the movement had disastrous consequences; many states in the United States had laws mandating the sterilization of certain individuals, others were not allowed to immigrate and by the 1930s these ideas were accepted by many other countries including in Germany where euthanasia for the “genetically defective” was legalized in 1939. This part of the history of genetics is at the heart of the now “non directive” approach to genetic counseling.

Sheldon Clark Reed coined the term genetic counseling in 1947 and published the book Counseling in Medical Genetics in 1955. Most of the early genetic counseling clinics were run by non-medical scientists or by those who were not experienced clinicians. With the growth in knowledge of genetic disorders and the appearance of medical genetics as a distinct specialty in the 1960s, genetic counseling progressively became medicalized, representing one of the key components of clinical genetics. It was not, though, until later that the importance of a firm psychological basis was recognized and became an essential part of genetic counseling, the writings of Seymour Kessler making a particular contribution to this. The first master's degree genetic counseling program in the United States was founded in 1969 at Sarah Lawrence College in Bronxville, New York. In 1979, the National Society of Genetic Counselors (NSGC) was founded and led by the first president, Audrey Heimler.

Professional roles

Genetic counselors work in a wide variety of patient-facing and non patient-facing settings. Clinical genetic counselors may provide general care, or specialize in one or more areas.

Examples include:

  • Prenatal and pre-conception – for women and their partners who are pregnant or thinking about becoming pregnant
  • Pediatric – for children with genetic, or suspected genetic, conditions and their family members
  • Cancer – for patients with cancer and/or their family members
  • Cardiovascular – for patients with diseases of the heart or circulatory system and/or their family members
  • Neurology – for patients with diseases of the brain and nervous system and/or their family members
  • Assisted reproductive technology / infertility – for couples struggling with fertility or who are carriers of genetic diseases
  • Psychiatric – for patients living with mental illness and/or their family members

Outside the clinic, genetic counselors work in areas such as laboratories, research, education, public health settings, and corporate environments. Examples of roles include:

  • Laboratory – Utilization management, provider and patient support, variant classification, and reporting
  • Research – Coordinating research studies, patient recruitment, data collection and interpretation, manuscript preparation and grant writing
  • Education – Professors, directors of genetic counseling training programs
  • Public health – Newborn screening programs, population screening programs
  • Non-profit – Patient support and advocacy organizations
  • Corporate – Dedicated services for employees and their families

Detection and early processes

Diagnostic testing occurs when an individual is showing signs or symptoms associated with a specific condition. Genetic testing can be used to arrive at a definitive diagnosis in order to provide better prognosis as well as medical management and/or treatment options. Testing can reveal conditions can be mild or asymptomatic with early treatment, as oppose to debilitating without treatment (such as phenylketonuria). Genetic tests are available for a number of genetic conditions, including but not limited to: Down syndrome, sickle cell disease, Tay–Sachs disease, muscular dystrophy. Establishing a genetic diagnosis can provide information to other at-risk individuals in the family.

Any reproductive risks (e.g. a chance to have a child with the same diagnosis) can also be explored after a diagnosis. Many disorders cannot occur unless both the mother and father pass on their genes, such as cystic fibrosis; this is known as autosomal recessive inheritance. Other autosomal dominant diseases can be inherited from one parent, such as Huntington disease and DiGeorge syndrome. Yet other genetic disorders are caused by an error or mutation occurring during the cell division process (e.g. aneuploidy) and are not hereditary.

Screening tests are often used prior to diagnostic testing, designed to separate people according to a fixed characteristic or property, with the intention of detecting early evidence of disease. For example, if a screening test during a pregnancy (such as maternal blood screening or ultrasound) reveals a risk of a health issue or genetic condition, patients are encouraged to receive genetic counseling to learn additional information regarding the suspected condition. A discussion of the management, therapy and treatments available for the conditions may take place; the next step may differ depending on the severity of the condition and range from during pregnancy to after delivery. Patients may decline additional screening and testing, elect to proceed to diagnostic testing, or pursue further screening tests to refine the risk during the pregnancy.

Presymptomatic or predictive testing occurs when an individual knows of a specific diagnosis (typically adult onset) in their family and has other affected relatives, but they themselves do not manifest any clinical findings at the time when they seek testing. The decision about whether or not to proceed with presymptomatic testing should entail a thoughtful approach and consideration of various medical, reproductive, social, insurance, and financial factors, with no “right” or “wrong” answer. Availability of treatment and medical management options for each specific diagnosis, as well as the genetics and inheritance pattern of the particular condition should be reviewed as inherited conditions can have reduced penetrance.

Insurance and legal issues should also be discussed during genetic counseling. There are laws in the United States such as GINA (Genetic Information Non-discrimination Act) and ACA that provide certain protections against discrimination for individuals with genetic diagnoses.

Approach and session overview

Approach

There are different approaches to genetic counseling. The reciprocal-engagement model of genetic counseling practice includes tenets, goals, strategies, and behaviors for addressing patients' genetic concerns. Some counselors favor a psycho-educational approach while others incorporate more psycho-therapeutic techniques. Genetic counseling is psycho-educational as patients "learn how genetics contributes to their health risks and then process what this means and how it feels."

Whether the process of genetic counseling is a form of psychotherapy is up for debate. The relationship between the client and counselor is similar as are the goals of the sessions. As a psychotherapist aims to help his client improve his wellbeing, a genetic counselor also helps his client to address a "situational health threat that similarly threatens client wellbeing". Due to the lack of studies which compare genetic counseling to the practice of psychotherapy, it is hard to say with certainty whether genetic counseling can be "conceptualized as a short-term, applied, specific type of psychotherapy". However, there few existing studies suggest that genetic counseling falls "significantly short of psychotherapeutic counseling" because genetic counseling sessions primarily consist of the distribution of information without much emphasis placed on explaining any long-term impacts to the client.

Structure

The goals of genetic counseling are to increase understanding of genetic diseases, discuss disease management options and explain the risks and benefits of testing. Counseling sessions focus on giving vital, unbiased information and non-directive assistance in the patient's decision-making process. Seymour Kessler, in 1979, first categorized sessions in five phases: an intake phase, an initial contact phase, the encounter phase, the summary phase, and a follow-up phase. The intake and follow-up phases occur outside of the actual counseling session. The initial contact phase is when the counselor and families meet and build rapport. The encounter phase includes dialogue between the counselor and the client about the nature of screening and diagnostic tests. The summary phase provides all the options and decisions available for the next step. If patients wish to go ahead with testing, an appointment is organized and the genetic counselor acts as the person to communicate the results. Result delivery can happen both in person or via phone. Often counselors will call out results to avoid patients having to come back in as results can take weeks to be processed. If further counseling is needed in a more personal setting, or it is determined that additional family members should be tested, a secondary appointment can be made.

Support

Genetic counselors provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. They serve as educators and resource people for other health care professionals and for the general public. Many engage in research activities related to the field of medical genetics and genetic counseling. When communicating increased risk, counselors anticipate the likely distress and prepare patients for the results. Counselors help clients cope with and adapt to the emotional, psychological, medical, social, and economic consequences of the test results.

Each individual considers their family needs, social setting, cultural background, and religious beliefs when interpreting their risk. Clients must evaluate their reasoning to continue with testing at all. Counselors are present to put all the possibilities in perspective and encourage clients to take time to think about their decision. When a risk is found, counselors frequently reassure parents that they were not responsible for the result. An informed choice without pressure or coercion is made when all relevant information has been given and understood.

After counseling for other hereditary conditions, the patient may be presented with the option of having genetic testing. In some circumstances no genetic testing is indicated, other times it may be useful to begin the testing process with an affected family member. The genetic counselor also reviews the advantages and disadvantages of genetic testing with the patient.

Outcomes

The most commonly measured genetic counseling outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict.

Sub-specialties

Adult genetics

Adult or general genetics clinics serve patients who are diagnosed with genetic conditions that begin to show signs or symptoms in adulthood. Many genetic conditions have varying ages of onset, ranging from an infantile form to an adult form. Genetic counseling can facilitate the decision making process by providing the patient/family with education about the genetic condition as well as the medical management options available to individuals at risk of developing the condition. Having the genetic information of other members of the family opens the door to asking important questions about the pattern of inheritance of specific disease‐causing mutations. Whilst there is a wealth of literature that describes how families communicate information surrounding single genes, there is very little which explores the experience of communication about family genomes. Adult-onset disorders may overlap multiple specialties.

ART/Infertility genetics

Genetic counseling is an integral part of the process for patients utilizing preimplantation genetic testing (PGT), formerly called preimplantation genetic diagnosis. There are three types of PGT and all require in vitro fertilization (IVF) using assisted reproductive technology (ART). PGT-M, for monogenic disorders, involves testing embryos for a specific condition before it is implanted into the mother. This technique is currently being done for disorders with childhood onset, such as Cystic Fibrosis, Tay-Sachs and Muscular Dystrophy, as well as adult-onset conditions, including Huntington's Disease, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome. PGT-SR, for structural rearrangements, involves testing embryos to establish a pregnancy unaffected by a structural chromosomal abnormality (translocation). PGT-A, for aneuploidy, was formerly called preimplantation genetic screening, and involved testing embryos to identify any de novo aneuploidy. The indications to carry out PGT-A are: previous aneuploidy in the couple, implantation failure, recurrent miscarriage, severe male factor or advanced maternal age. Finally, PGT seems to be: safe for the embryo, trustable in the diagnosis, more efficient from the reproductive point of view and cost-effective.

Genetic counseling can also involve medical evaluation and clinical work-up for couples with infertility and/or recurrent pregnancy loss, as these histories can be associated with parental chromosome aberrations (such as inversions or translocations) and other genetic conditions.

Cardiovascular genetics

A rapidly expanding field in genetic counseling is cardiovascular genetics. More than 1 in 200 people have an inherited cardiovascular disease. Hereditary cardiac conditions range from common diseases, such as high cholesterol and coronary artery disease, to rare diseases like Long QT Syndrome, hypertrophic cardiomyopathy, and vascular diseases.  Genetic counselors who specialize in cardiovascular disease have developed skills specific to the management of and counseling for genetic cardiovascular disorders and practice in both the pediatric and adult setting. Cardiovascular genetic counselors are also integral in local and national efforts to prevent sudden cardiac death, which is the leading cause of sudden death in young people. This is done by identifying patients with known or suspected heritable cardiovascular diseases and promoting cascade family screening or testing of at-risk relatives.

Common referral reasons include:

Guidelines on cardiovascular genetics are published by multiple professional societies.

Hereditary cancer genetics

Cancer genetic counselors see individuals with a personal diagnosis and/or family history of cancer or symptoms of an inherited cancer syndrome. Genetic counselors take a family history and assess for hereditary risk, or risk that can be passed down from generation to generation. If indicated, they can coordinate genetic testing, typically via blood or saliva sample, to evaluate for hereditary cancer risk.  Personalized medical management and cancer screening recommendations can be provided based on results of genetic testing and/or the family history of cancer. While most cancers are sporadic (not inherited), some are more likely to have a hereditary factor, particularly when occurring at young ages or when clustering in families. These include common cancers such as breast, ovarian, colon and uterine cancers, as well as rare tumor types. General referral indications can include, but are not limited to:

Neurogenetics

Genetic counselors specializing in neurogenetics are involved in the care of individuals who have or are at risk to develop conditions affecting the central nervous system (brain and spinal cord) or peripheral nervous system (the nerves that leave the spinal cord and go to other places in the body, such as the feet and hands, skeletal muscles, and internal organs). Effects of these conditions can lead to various impairments some examples of which include cognitive decline, intellectual disability, seizures, uncontrolled movements (e.g. ataxia, chorea), muscle weakness, paralysis, or atrophy. Examples of neurogenetic disorders include:

Pediatric genetics

Pediatric genetic counseling can be indicated for newborns, infants, children and their families. General referral indications can include:  

Prenatal genetics

Prenatal genetics involves services for women either during or prior to a pregnancy.

General indications for referral to genetic counseling in the preconception or prenatal setting may include, but are not limited to:

  • Advanced maternal age (35 years old or older at time of delivery)
  • Advanced paternal age
  • Current pregnancy with anomalies identified by ultrasound (e.g. increased nuchal translucency measurements)
  • Current pregnancy with an abnormal genetic screening test or test result
  • Current pregnancy with risk of or concern for maternal exposures, such as medications, radiation, drugs/alcohol, or infections
  • Consanguineous union (cousins or otherwise blood related)
  • Family history of an inherited genetic condition or chromosome abnormality
  • Genetic carrier screening for recessive and/or X-linked diseases
  • History of a previous child with a birth defect, developmental delay, or other genetic condition
  • History of infertility, multiple unexplained miscarriages or cases of unexplained infant deaths
  • Molecular test for single gene disorder

Prenatal genetic counseling may help with the decision-making process by walking patients through examples of what some people might do in similar situations, and their rationale for choosing that option. Decisions made by patients are affected by factors including timing, accuracy of information provided by tests, and risk and benefits of the tests. This discussion enables patients to place the information and circumstances into the context of their own lives, and in the context of their own values. They may choose to undergo noninvasive screening (e.g. ultrasound, triple screen, cell-free fetal DNA screening) or invasive diagnostic testing (amniocentesis or chorionic villus sampling). Invasive diagnostic tests possess a small risk of miscarriage (1–2%) but provide more definitive results. Testing is offered to provide a definitive answer regarding the presence of a certain genetic condition or chromosomal abnormality.

Psychiatric genetics

Psychiatric genetic counseling is a sub-specialty within genetic counseling focused on helping people living with a psychiatric disorder and/or their family members understand both the genetic and environmental factors that contributed to their illness and address associated emotions such as guilt or self-blame. Genetic counselors also discuss strategies to promote recovery and protect mental health and address any questions on chances for recurrence in other family members. While currently there is no single gene solely responsible for causing a psychiatric disorder, there is strong evidence from family, twin studies, and genome-wide-association studies that both multiple genes and environment interact together. Like other areas of genetic counseling, patients at all different stages of life (pediatric, adult, prenatal) can have psychiatric genetic counseling. Since the etiology of psychiatric disorders is complex and not fully understood, the utility of genetic testing is not as clear as it is in Mendelian or single gene disorders. Research has shown that individuals who receive psychiatric genetic counseling have significant increases in feelings of empowerment and self-efficacy after genetic counseling.

Psychiatric genetic counselors can help "dispel mistaken notions about psychiatric disorders, calm needless anxiety, and help those at risk to draw up a rational plan of action based on the best available information".

International

In 2018, there are nearly 7000 genetic counselors practicing worldwide, across at least 28 countries.

China

Genetic counseling in China (mainland) has been primarily provided by pediatricians or obstetricians for prenatal or birth defect diagnoses. Most genetic tests can only be performed in academic institutions as research tests or in commercial direct-to-consumer companies for non-clinical use.

In China, genetic counseling is steered by the Chinese Board of Genetic Counseling (CBGC), a not-for-profit organization. CBGC is composed of senior experts engaged in genetic education and research. CBGC is committed to establishing standardized procedures of genetic counseling, training qualified genetic counselors, improving health for all, and reducing the incidence of birth defects. CBGC was established in 2015 and is the major professional organization for genetic counselors in mainland China, providing training through short term online and in-person lectures, educational conferences, and certification for trainees.    

Genetics education in China began in the 1980s when selected medical schools began offering genetics courses that focused predominantly on molecular genetics and had limited clinical content. At present, there are no official master's level graduate programs in genetic counseling or clinical genetics in China, and there is great variability in the duration and content of genetics curricula among medical schools and professional organizations.

The Chinese Ministry of Health has not yet recognized genetic counselors as an independent health care occupation. There are no official statistics for the number of health care professionals (e.g., physicians, nurses, and lab technicians) who are providing genetic counseling services in China.

South Africa

Genetic Counselling is a developing field in South Africa. Currently, there are about 20 registered genetic counsellors practicing in the country. In South Africa, genetic counsellors work within academic institutions, in the private health sector and more recently, private genetic laboratories. A few qualified genetic counsellors have been employed outside of the country or in other professions, owing to funding limitations that have impacted employment opportunities, particularly in the academic/public health sector.

The first Genetic Counselling Programme in South Africa started in 1989 at the University of the Witwatersrand in Johannesburg, in the Gauteng province. A second programme started in 2004 at the University of Cape Town in the Western Cape province. These are the only two programmes offering Masters level genetic counselling training in South Africa. Currently these courses are running at full capacity.  This is a two-year degree and includes a research component. The majority of students enter the Masters programme with a science background but those with a psychology background are also be considered.

The Health Professions Council of South Africa (HPCSA) requires two years of internship. Often the first year forms part of the master's degree in Genetic Counselling and a further 12-month internship thereafter. Genetic Counsellors are required by law to register with the HPCSA in order to practice as genetic counsellors. At the end of the training period, registrants submit a portfolio to HPCSA for assessment. If successful, the intern will be registered with the HPCSA and will be able to practice as a Genetic Counsellor in South Africa.

There is a professional organisation for Genetic Counsellors in South Africa, Genetic Counselling South Africa (GC-SA), which provides information and guidance to the HPCSA and others regarding professional issues. The GCSA is a focus group of the South African Society of Human Genetics (SASHG).

United Kingdom

The majority of Genetic Counsellors in the UK work in the National Health Service (NHS) in one of the 33 Regional Clinical Genetics Services (some renamed Genomic Medicine Centres in England), Scotland, Wales or Northern Ireland. Others work in specialist roles in the NHS, education, policy or research. A minority work in the private sector.

The Association of Genetic Nurses and Counsellors (AGNC) is the UK's professional organization representing genetic counsellors, genetic nurses and non-medical, patient-facing staff working within the discipline of Clinical Genetics. There are currently (March 2018) 330 AGNC members within the UK. The AGNC is one of the constituent groups of the British Society for Genetic Medicine (BSGM).

The first 2-year MSc in Genetic Counselling program established in the UK was from the University of Manchester 1992, followed by Cardiff University in Wales in 2000. 2016 saw major changes in the way genetic counsellors are trained in England. A 3-year training programme funded by Health Education England, the Scientist Training Programme (STP) uses a combination of work-based training in Genomic Medicine Centres and a part-time MSc in Genetics (Genomic Counselling) from the University of Manchester. Recruitment is performed nationally through the National School of Healthcare Science (NSHCS). A 3-year part-time MSc in Genetic and Genomic Counselling is also now delivered by Cardiff University, through blended learning, with most of the teaching delivered online, alongside some short face-to-face teaching blocks in Wales. A 2-year MSc Genetic and Genomic Counselling program began at the University of Glasgow in Scotland in 2016. Prerequisites for acceptance on all the programmes include a degree in a relevant science or a nursing or midwifery qualification, and experience in a caring role.  All genetic counselling training programmes are accredited by the UK Genetic Counsellor Registration Board (GCRB) and the European Board of Medical Genetics (EBMG).

Genetic counsellors in the UK are regulated through the Genetic Counsellor Registration Board (GCRB), although currently GCRB registration is voluntary. The GCRB registry was accredited in 2016 by the Professional Standards Authority under its Accredited Registers programme. Over 200 genetic counsellors are currently registered through the GCRB. Genetic Counsellors trained through the STP programme are expected to be eligible to apply for statutory regulation through the Health Care Professions Council and it is planned that soon there will be equivalence arrangements with the GCRB to ensure statutory regulation for GCRB registered genetic counsellors.

United States

Education

A genetic counselor is an expert with a Master of Science degree in genetic counseling. Programs in North America are accredited by the Accreditation Council for Genetic Counseling (ACGC). There are currently 48 accredited programs in the United States, four accredited programs in Canada, and four programs with the intent to become accredited. Students enter the field from a variety of disciplines, including biology/biological sciences and social sciences such as psychology. Graduate school coursework includes topics such as human genetics, embryology, ethics, research, and counseling theory and techniques. Clinical training including supervised rotations in prenatal, pediatric, adult, cancer, and other subspecialty clinics, as well as non-patient facing rotations in laboratories. Research training typically culminates in a capstone or thesis project.

State licensure

As of May 2019, 29 states have passed genetic counselor licensure bills that require genetic counselors to meet a certain set of standards to practice. These states are Alabama, Arkansas, California, Connecticut, Delaware, Georgia, Hawaii, Idaho, Illinois, Indiana, Iowa, Kentucky, Louisiana, Massachusetts, Michigan, Minnesota, Nebraska, New Hampshire, New Jersey, New Mexico, North Dakota, Ohio, Oklahoma, Pennsylvania, South Dakota, Tennessee, Utah, Virginia, and Washington. Almost every other state in the United States is in the process of obtaining genetic counseling licensure.

Although genetic counseling has been established over four decades, the first licenses for genetic counselors were not issued until 2002. Utah was the first state to do so. The American Society of Human Genetics (ASHG) has since encouraged more states to license genetic counselors before they are allowed to practice. ASHG argues that requiring practitioners to go through the necessary training and testing to obtain a license will ensure quality genetic services as well as allow for reimbursement for counselors’ services. Laws requiring licensure ensure that "professionals who call themselves genetic counselors are able to properly explain complicated test results that could confuse patients and families making important health decisions".

Reimbursement and recognition

Insurance companies usually do not reimburse for unlicensed genetic counselors’ services. Patients who may benefit from genetic counseling may not be able to afford the service due to the expensive out-of-pocket cost. In addition, licensure allows genetic counselors to be searchable in most insurance companies’ databases which gives genetic counselors increased opportunities for earning revenue and clients the opportunity to see "the level of coverage insurers provide for their services".

The Center for Medicare and Medicaid Services (CMS) does not currently recognize genetic counselors as healthcare providers and therefore does not reimburse for genetic counseling services unless they are provided by a physician or nurse practitioner. On June 12, 2019, H.R. 3235 "Access to Genetic Counselor Services Act of 2019," was introduced to the U.S. House of Representatives by U.S. Rep. Dave Loebsack (D-Iowa) and U.S. Rep. Mike Kelly (R-Pennsylvania). H.R. 3235 would authorize CMS to recognize certified genetic counselors as healthcare providers and to cover services furnished by genetic counselors under part B of the Medicare program. Genetic counselors are those licensed by states as such, or, for those in states without licensure, the Secretary of Health and Human Services will set criteria through regulation (likely ABGC certification). Genetic counselors would be paid at 85% of the physician fee schedule. Other providers currently providing genetic counseling services will not be affected by the bill.

Job Outlook

As genetic counseling continues to grow as a branch in the medical field, employment rates of genetic counselors are expected to grow by 21% over the next decade; this statistic suggests that approximately 600 new jobs will become available in the US over this time period. Graduating from an accredited program with a passing score on the board certification exam increases the job prospect. As of May 2019 the median annual wage for genetic counselors was $81,880; the lowest 10% earning less than $61,310 and the highest 10% earning more than $114,750. This includes the varying industries in this field, such as medial and diagnostic laboratories, offices of physicians, hospitals, and colleges/universities.

Media

The National Society of Genetic Counselors (NSGC) blog provides information about current topics in genetic testing and genetic counseling.

Public attitude

Many studies have examined the attitudes of the lay public toward genetic counseling and genetic testing. Barriers to obtaining genetic counseling include lack of understanding of genetics by both patients and healthcare providers, concerns about cost and insurance, and fears of stigma and/or discrimination.

No simple correlation has been found between the change in technology to the changes in values and beliefs towards genetic testing.

Health disparities

An increase in genetic counseling outreach efforts are needed to intentionally extend opportunities to populations that have been historically underrepresented in the profession to create a more diverse and inclusive workforce and access to services. Given the history of low engagement of under-represented minority populations in both clinical genetic services and genetic research, both of these aspects will be challenged and must be addressed before the benefits of precision medicine will be fully realized.

Representation of a Lie group

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