Philosophy of Genetics

How much do we differ?

A recent article in Nature shows that we humans differ from each other by 1% of our DNA, due to "copy number variations", or CNVs, in our genes.  The previous theory (which relied on analysis of single nucleotide differences, or SNPs) erroneously stated that all humans are 99.9% alike. 

Both the old SNP-based and new CNV-based studies used human subjects from Europe, Africa and Asia:

1. SNP - The international HapMap project studied small genetic differences among people.  These SNPs, or single nucleotide polymorphisms, are differences in single DNA letters (A, T, G, or C) in the genome.  Scientists found at that time that 1 in 1000 DNA letters differ between people, erroneously implying we are all 99.9% alike.
2. CNV - The new international project studied larger pieces of DNA that repeat themselves as "copy number variations" (CNV) in our chromosomes.  Scientists found 1,447 CNVs in 2,900 different genes.  In other words, entire paragraphs of "DNA letters" repeat themselves in different ways in different people or ethnic groups.  Sometimes entire genes exist in multiple copies in the same person, or are deleted completely in another person.  Scientists found 1,447 of these repeating paragraphs which make up 12% of our DNA (1% of which is actually different).

So about 0.1% of the human genome differs across people due to SNPs, but much more may differ due to CNVs.  A CNV may be a piece of DNA that repeats once, twice, or many times in different individuals.  Or entire genes may repeat.  Some people may have several copies of the same gene, whereas other people may have none.

Genetic differences between people are sometimes related to diseases.  For example, studies show that 17 CNVs may be related to nervous system diseases like Parkinson's and Alzheimer's.  But more often genetic differences are a normal part of human variation.  They explain personality differences, and differences in appearance.

Intelligent design, revisited

At some level, humans are merely matter.  We are simply part of that ball of material called "Earth" orbiting the Sun.  We consist of molecules and atoms, just like rocks and sand and flowers.  So, when thinking about evolution, we shouldn't consider humans as being special or "outside of the system", or any different from any other part of the Earth.  We must consider the whole planet, animate and inanimate, as merely matter, all part of Nature.

So what does this perspective tell us about evolution?  Let me give an example of "intelligent design" by human actors.  The VHS video tape that we rent in stores is being replaced by a completely new technology, the DVD.  There is no gradual evolution, from one technology to the next.  It is an abrupt change.  DVDs were invented in special laboratories by a small group of humans.  A complex marketing and distribution system allowed those inventors to spread the word, and make the new technology available.  The invention was popularized, early adopters gave way to mainstream acceptance, and DVDs have nearly replaced VHS tapes in just a few years.

The ability to invent new things is a human trait.  So, are we humans special?  No.  We are merely one form of matter, just part of the overall system (Earth or Nature).  Since one form of matter on Earth can plan and design things, then other types of matter can potentially do it too, by planning and executing strategies, and not just relying on happenstance and blind chance.  Furthermore, since humans and pre-humans have possessed this ability to plan and design for millions of years, perhaps this "intelligent design capability" of Nature has existed for billions of years!

Let me repeat this for clarity.  Usually, we humans tend to think of ourselves as "outside of Nature", not part of it.  So take a deep breath, and try to imagine that humans and Nature are really the same system.  Humans can invent and design entirely new things like DVDs.  Humans can also create new species (through planning and breeding).  Since we are merely part of Nature, this implies that part of Nature can create new species through planning and breeding.  This is not speculation; this is fact!  Some matter can design the form of other matter.

Perhaps the classical theory of evolution is still valid, but has long since been supplanted by intelligent design when new species arise.  If humans are intelligent designers, it follows that the Earth (or matter or Nature) is an intelligent designer as well (perhaps for billions of years), since we (as matter) are simply part of the Earth.  So whether or not you believe in God, intelligent design is certainly possible.  And we all know that the Earth is not the center of the universe!

God and Darwin

Recently, some pro-Darwinists have been attacking religious faith because it's not scientific and rational.  But it shouldn’t really matter (to someone who believes in evolution) whether humans are rational or not.  It’s the outcome (and effect) our faith has that matters, and how this aids our survival as a species.  The belief itself is not relevant to scientific debate.

I’m not a religious person (maybe I'm missing that gene), but you don’t have to be religious to see the effect of religion on human cultural evolution.

Where did God come from?  In the last 5,000 years, the human mind evolved to cherish abstractions as being as important as our own survival.  First, we invented abstract things like writing, the wheel, rule of law, and democracy.  These came about because humans started to see abstractions as being more important than self-preservation.  We became obsessed with “the principle of the thing” over practical concerns.  This can be seen most clearly in religious fanatics who blow themselves up “for the cause” or “for an idea”.  That is the raw inclination behind religion and invention and rule of law.

During the time of the Roman empire (2,000 years ago), life was miserable and short for the average person.  Many people began to embrace Christianity, not because it's rational, but because the church promised to support everyone as Christ did, especially the downtrodden and outcasts, who were given a level of care by the church they hadn’t known before.  Even when the early Christians were tortured and thrown to the lions for their beliefs, they bravely and willingly gave their lives for the idea of "God" and His grace.  Eventually, the Roman empire had to convert to Christianity, because they couldn't fight the faithful any longer.

Christianity, then, has a practical effect.  True, it can be open to abuse, because any time you start accepting the words of your leaders on faith (without questioning), they can become corrupt, or launch religious wars.  That’s why the Protestant reformation was so important, to remind people they have a direct path to God.  He can hear your prayers without the need for an intervening church hierarchy (priests, etc).  The Protestant revolution led directly to the humanist idea that every man and woman is an important and sacred individual, the foundation of democracy.

So religion has been very important to the development our modern notions of law, morality, and science and evolution.  Is there a God?  It doesn’t really matter, does it?

Finding religion in genetics

By some strange miracle (or by accident), I ran into two of the human genome pioneers in the past two months – Francis Collins and Craig Venter.  On September 15, while attending a modern dance show at Duke University (Liz Lerman’s “Ferocious Beauty: Genome”), a kindly older couple standing in the aisle asked if we had taken their seats by mistake.  I looked up, and there was Francis Collins, director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH).  We said “no”, and they quickly found another seat.

The dance performance was extremely well-done.  It’s hard to make a dry topic like genetics come alive, but they managed with some success.  The dancers were an exceedingly politically-correct combination of White, Black, old, young, Jewish, Christian, and even a dancer in a wheelchair.  The obvious lesson was that every person is morally important, and genetics is not to be feared, and people like Collins are not trying to create a "master race" through genetic enhancement.

It turned out that Collins was a guest of honor – part of a panel discussion after the dance, to explain and debunk genetics for the general public.  Collins is an evangelical Christian (not a godless scientist!) and his recent book “The Language of God: A Scientist Presents Evidence for Belief” should win kudos within the Bush Administration, and extend Collins’ contract for at least a couple more years, even though organized religion is being attacked these days by everyone from Richard Dawkins (famous proponent of Darwinism) to Elton John, who recently said "I would ban religion completely".  Is Collins' religious posturing genuine, or a smokescreen to hide the political implications of genetic diversity?

A month later, I literally ran into Craig Venter by the swimming pool at the Hilton Head Marriot hotel, where he was sponsoring a conference on genetics.  Venter has been sailing the world for the last few years, collecting samples of new ocean species, to analyze their DNA the same way he (allegedly) analyzed his own DNA as part of the Human Genome Project (which is probably why we falsely believe that everyone has the same leadership genes that Craig Venter does).

Outside the hotel was parked Venter’s DISCOVER GENOMICS! bus, a “mobile laboratory program developed to work with local teachers and school administrators in the Washington, DC metro area to enhance science literacy and generate enthusiasm and awareness of genomics in underrepresented minority groups.”

Since the job of sequencing the human genome in all its variation is quite expensive, the government and privately funded programs require ongoing public support and outreach.  So it appears that both Venter and Collins are trying to appeal to the "hearts and minds" of America, or at least trying to defuse genetics as a possible political issue, especially with minorities and the disabled who have been suspicious that genetic tests could be used by neo-Nazis to weed society of “undesirables” (those with disabilities, violent temperaments or low IQ).

I think it's all a laudable goal.  Clearly everyone currently living should treated as morally equal.  Scientific knowledge about genetic variation should be used to cure human diseases.  But all the while, the same research dollars (public and private) are being used to enhance our knowledge of human genetic differences in things like motivation, leadership ability, intelligence, and temperament.  Once this knowledge becomes public and our cherished notions about "all men are created equal" are brought into question, there will be a political firestorm that no religious tonic can quench.