Philosophy of Genetics

Al Gore's DNA

Former vice president Al Gore recently helped launch Navigenics, a new personal genomics service.  According to Gore, "on all these new genetic breakthroughs, there is always some resistance culturally, and then, where there's an evaluation of the inherent value, if the ethics are right, if the surrounding culture is right, then it just breaks through ... I think it's going to be a fantastic success."

Using Navigenics' service, you can determine your projected lifetime risk for certain conditions like heart disease, based on your personal genetic differences.

What is Eugenics?

Eugenics is the theory that humans can influence our own evolution, through selective breeding, or genetic enhancement.  Usually, the word "eugenics" has a highly negative connotation, implying government sponsorship of breeding programs and forced sterilization of "undesirables".

For example, between 1934 and 1975, Sweden sterilized more than 62,000 mentally ill people.  The Nazis in Germany were much worse, of course, simply killing those they considered innately "inferior".  Government involvement in human breeding or genetic selection is always evil, and any sort of genetic discrimination is also morally wrong.

On the other hand, most people agree that elimination of genetic diseases by personal choice is a good idea.  For example, Ashkenazi Jews have effectively used screening tests to virtually eliminate Tay-Sachs disease.  I wouldn't call this "eugenics" (since it's not government-sponsored) but it's certainly an example of human-directed evolution, since it altered the prevalence of certain genes in the population.

So how far should personal choice be allowed to go?  Aside from eliminating genetic diseases, should we allow personal choice over other genetic traits?  A 1993 March of Dimes poll found that 11% of parents said they would abort a fetus whose genome was predisposed to obesity. Four out of five would abort a fetus if it would grow up with a disability. Forty-three percent said they would use genetic engineering if available simply to enhance their child's appearance.

Would this sort of genetic enhancement (to create "designer babies") be considered eugenics?  In my opinion, no, as long as the decisions are not made by governments.  Would there be "cultural pressure" to genetically enhance your children, if everyone around you was doing so?  Probably (that's why genetic counseling services will be a growing industry).  If scientists identified a gene enhancement technique that could make your children more intelligent, and all your neighbors were using it, would you have the courage to buck the trend?  Should you?

In any case, choosing to conform (or not) to cultural expectations is different from government coerced eugenics.

Big Brother wants to be the "gatekeeper" of your genetic information

Two government agencies, the Food & Drug Administration (FDA) and Federal Trade Commission (FTC), are being advised to act as "gatekeepers", to limit citizen's knowledge of our own DNA.

Specifically, the Genetics and Public Policy Center at Johns Hopkins University is recommending that the FDA regulate claims made by genetic testing services (especially direct-to-consumer tests), and provide more stringent oversight of the 1,500 currently available genetic tests, and for the FTC to  “take decisive action against companies making false or misleading claims about the benefits of genetic testing".

Sounds reasonable, right? Wrong.

First, taking a genetic test can't hurt you physically.  If someone sells a flawed genetic test, the word will get out pretty quickly, and that vendor will lose credibility.  It's self-policing. But nobody will be hurt.

Second, the results of a genetic test are objective facts. If a test shows you have variant A (or B or C) of a gene, it's simply a fact about you.  The vendors of genetic tests are simply providing you with objective facts about yourself.  If insurance companies won't pay for a genetic test, that's their decision, but direct-to-consumer tests should not be regulated, except for basic quality.

Third, many scientists and others will offer interpretations or claims about the results of your genetic tests, in a vast marketplace of ideas.  The science (and therefore the accuracy of the claims) will improve every year. Some people making these claims will have more credibility than others. But there are ways to handle this, without government involvement.  We each have 20,500 genes, all coming in different variants or flavors. The government can't possibly keep track of all the claims made on each gene variant, much less attest to their veracity.

What does it mean if I possess variant A of gene XYZ?  Scientists (and bloggers) around the world will have opinions on the function of each gene variant.  That's a democratic messy process, and ultimately it leaves the consumer.to weigh the credibility of the source. Some (perhaps most) claims will ultimately be proven incorrect, especially claims by those scientists who are under constant pressure to be politically correct instead of scientifically correct.

Still, the government should keep its distance, as it did with the birth of the Internet, and the regulation of herbal medicines.  Extreme government involvement in genetics is, ultimately, eugenics.  The future of genetic understanding will come through collaboration, community, contention, and debate, not government control.

Secretly testing DNA from stray hairs and cigarette butts

Anyone who watches modern TV crime drama knows that obtaining DNA samples (hair, sweat, blood, or saliva) from an alleged perpetrator is often done secretly, without a warrant or consent of the suspect.

According to a story in the New York Times:

The practice, known among law enforcement officials as “surreptitious sampling,” is growing in popularity even as defense lawyers and civil liberties advocates argue that it violates a constitutional right to privacy.

Law enforcement argues that lost hairs and saliva are "traces of DNA [that suspects] unwittingly shed" and should not require a warrant before testing.

But they should.  Everyone's DNA tells a rich personal story, and our knowledge grows richer every day.  It should be illegal to test a known subject's DNA, without a warrant.

What is Life?

What is life?  Life is simply “a form that can replicate itself”.  What then is a form? 

A form is a configuration of matter that exists at a particular time, in a particular region of space, that exhibits substantially less randomness (entropy) than the surrounding space, and is stable over time.  Having low entropy means that the form couldn’t have appeared in that time or place by chance alone.

Since life must replicate itself, it must be able to grow, by aggregating other matter from its space/time neighborhood.  In other words, it must transport other matter (within a reasonable amount of time) to a higher concentration, and then configure that matter as needed to build the form being replicated.

Transporting matter takes energy, especially when it's being concentrated into one small region.  So life replication requires an external energy source, like the sun.  Life must capture that energy and redirect it to the transportation function.

Not all matter is the same.  So life must identify the specific materials it needs, by elemental or molecular type (sulfur, carbon, water), prior to transportation. Thus life acts as an “attractor” just like any other force of nature (gravity, etc).

According to quantum physics, the concepts of identification, measurement, and transportation have no meaning, except as examples of matter interacting with other matter at the subatomic level.  So the life form must perform its functions as a set of interactions with the environment that remain stable over time.

Life is thus a “stable configuration of interactions” between matter within a specific space/time region, that consume energy, and decrease entropy.  This "stability through time" transports knowledge from the past into the present.

Thus, life is knowledge (of the environment) from the past, transported to the present, through the stable interactions of physical form.

Maternal Instinct Is Hard-Wired Into the Brain

Tara Parker-Pope wrote an interesting blog entry in the New York Times Health section, about a scientific study on how mothers respond to their children's cries, because of the innate wiring of the mothers' brain.

The article was interesting, but I was captivated by the reader comments, which were overwhelmingly negative, but also strangely off-base, as if the readers themselves weren't hard-wired to understand their own human nature.

Some comments made the point that if a trait isn't constant and unchanging, it can't be hard-wired. This is silly.  Human development occurs over time, but it's still innate.  For example, women develop breasts many years after they're born, but breast development is obviously innate.  Also, women have their periods sometimes (not all the time), so periodicity can also be programmed into the genes.

Furthermore, some social behaviors, such as "selective mutism", are innate, even as their development relies on experience.  You must first learn what a human face looks like (experience), before you can have an innate reaction (fear, shyness) to faces. But even if a trait requires "tuning" in the context of the environment, that doesn't make it any less innate.  The learning of faces is retained in the brain in a location well-known to the genes a priori, so the genes can exploit this ability later.  Seeing faces can make us shy, because our genes built the innate circuitry to recognize and remember faces in the first place.

The point is... the definition of a "hard wired" trait is not that something is fixed and unchanging from birth.  It's simply a trait whose development is programmed (by our genes) to unfold in the context of (expected) environmental scenarios.

The Personal Genome Project

Harvard's George Church (with help from Google) plans to identify the genetic variations of 100,000 people (and perhaps eventually 1,000,000 people), and associate their gene variants with their health and family disease history.

According to a recent article in Bloomberg:

By matching genetic data from each person with his or her health history, Church would build a database that would link DNA variations and disease for scientists and drugmakers, the first step in deciding on treatments that can block the mutations or adjust how they work within the body. Church also said he'll explore other human traits under genetic control. Participants will give facial and body measurements, tell researchers what time they get up in the morning, and detail other behaviors, he said.

Previously, it's been difficult for scientists to determine which specific gene variants are responsible for disease, without having this much data to analyze.  There are 3 million "single letter" DNA differences between people (which account for 10% of the total genetic variation).  In order to make statistically valid associations between genetic variation and disease, you need to study the gene variants of hundreds of thousands (if not millions) of people.

Google is positioning itself to help consumers keep track of their complex genetic data, and self-manage their electronic healthcare records.  The U.S. Congress is lagging behind the rapid technology advances, and should immediately pass legislation that prohibits any genetic discrimination, especially by insurance providers.

Value-based healthcare

The UK government, with its nationalized healthcare program, plans to save money by rationalizing the cost of drugs.  The UK wants to establish the value of drug treatments, based on their cost-effectiveness. If a drug's benefit doesn't outweigh its cost to the payer (the government), doctors will not be allowed to prescribe the drug.

How does the UK government intend to measure a drug's value to the patient?  According to a Reuters article, the patient's quality of life gained must exceed the drug's cost:

The National Institute for Clinical Excellence (NICE) bases its assessments on "quality-adjusted life years", or QALYs, which measure a person's state of health. One QALY equals one year of perfect health, two years of half-perfect health or four years of one-quarter perfect health. As a rule of thumb, NICE reckons medicines costing more than 30,000 pounds per QALY are too expensive, though it does make exceptions.

Pharmaceutical companies can either accept the way NICE values their drugs, or fight back. Pfizer has protested NICE's recommendation that its Aricept and similar drugs be prescribed only for patients with significant symptoms of dementia.  Bristol-Myers Squibb's rheumatoid arthritis drug Orencia was knocked back by NICE as too costly.

Since the U.S. is quickly moving to a form of nationalized healthcare, it's an instructive debate.  Soon, we too will be debating the merits of drug QALY's and value-based healthcare.

Building virtual robots

When trying to devise artificially intelligent robots, scientists spend too much time constructing physical parts (robotic hands, servos, battery packs), and too little time developing the intelligent programming and algorithms.  This begs the question: Why build anything physical at all? Why not develop and simulate the robot body virtually, on a computer?

Lego, with its line of MindStorms robot kits, has done just that. Now you can experiment with new robot designs in silico, without the need for a soldering iron, or assembly of any physical pieces at all.  All the components are simulated in a virtual world on a computer. Hopefully, this technology is the wave of the future, and scientists can return to working on the hard problem, which is artificial intelligence!

One downside of the Lego offering is its lack of physics and interaction. There's no gravity and collision detection between objects.  These have been addressed in computer games ("physics engines"), and hopefully that technology gets absorbed into the experimental world of intelligent robot design.

What is a Chimera?

According to the New England Journal of Medicine, a woman named Lydia Fairchild gave birth to her own child in 2002, but genetic tests performed on her skin and hair did not match her child (except to the degree a grandmother might match).

However, DNA from other tissue in Fairchild's body did match her child. Lydia carried two distinct sets of DNA within her body, the defining characteristic of a chimera.

The most likely explanation is that Lydia Fairchild herself was a fusion of two sets of chromosomes from her parents, when she was born. Her mother simultaneously ovulated two eggs, which were both fertilized by different sperm from her father.  Then the two eggs fused into a single embryo, which grew up to be Lydia.

In other words, as Lydia Fairchild developed, both types of cells within her participated in constructing her various organs, but not all the DNA was represented in all her organs.  She had two distinct sets of DNA, as if she had twins inside her own body.

So when Lydia Fairchild had a child of her own, the child inherited one set of her DNA, but not the other set.