Philosophy of Genetics

World's first genetically engineered human embryo

According to a story in the New York Times:

Researchers in New York have created what is believed to be the first genetically engineered human embryo, which critics immediately branded as a step toward “designer babies.”

[While doctors have previously] put foreign genes into people as part of gene therapy to treat diseases ... those genetic changes generally cannot be passed on to future generations because they are made to only certain types of cells in the body, like blood cells or muscle cells. Genetic changes made to an embryo would theoretically be heritable if the embryo became a baby.

[Critics responded that] the techniques being developed could be used by others to create babies with genes modified to make them smarter, taller, more athletic or better looking. They also said there should have been more public discussion.

Out of Africa

In the beginning, there were no Whites and no Asians.  We were all Africans.

According to genetic studies, all humans evolved from a single female (named “Eve”) who lived in Africa 200,000 years ago.

How do we know?  Each generation, there are subtle changes in our DNA, which normally have little effect.  These DNA changes accumulate over time, as they are passed down from one generation to the next, and their frequency can be used for analysis of human migrations through history.  The farther away from Africa you travel, the less genetic variability you see, implying that Africa was the ancient birthplace of modern man.

Sometimes these small DNA changes (or “genetic drifts”) are given specific names, to represent family branches, especially when new human migrations occur:

• After Eve, the L1 lineage branched off (some 125,500–165,500 years ago).  Today, the San and Mbuti peoples of Africa are Eve's direct descendants.  They set the stage for behavioral modernity between 100,000-50,000 years ago, when humans began to think more abstractly, engage in bartering and trade, and develop language and music
• Then, the L2 line branched off from the L1 line (around 70,000 years ago), and populated parts of western Africa.
• Another lineage, L3, also branched off from L1 (around 60,000 years ago), and populated parts of northeastern Africa

The L* lines are now largely confined to Africa (except those people who emigrated in the last 400 years, or, in that terrible chapter of human history, were captured and sold elsewhere as slaves).

• Around 60,000 years ago, a new branch, the M lineage, split from the L3 line and departed from Africa and crossed the Red Sea into the Middle East.
• From there, the M lineage migrated to Asia, and a new N lineage migrated to Europe. There are very few of the M lineage in Europe, but there are N's mixed with M's in Asia.
• Later (14,000 years ago, although some say it was 30,000 years ago), some Asians migrated across the Bering Straight to populate North and South America.  These are the American Indians, and other native peoples

In other words, if someone asks you where you're from, you'll never be wrong to say "Africa".

Yes, but society tells you to...

Most of us are motivated to listen to society (friends, neighbors, parents, doctors, authorities), when their words resonate with our own innate preferences.  When a child is largely in agreement with his parents, he'll say things like "my parents raised me right" or "my parents made me who I am", as if he was born a formless lump of clay, waiting passively to be molded into an adult.

Yet our assumptions are wrong.  Most of us "choose" to conform to social expectations — and we assume we're making a free choice — when it's merely a happy coincidence of our inborn desires meshing with social expectations.

But what happens when our innate desires are in conflict with the words of society?  For example, what if society tells you to "act like a boy" but you really want to act like a girl? A recent story on NPR shows what happens, when a young boy has an obsessive preference for "girls' things"

From his earliest days [Bradley] had chosen girls' dolls, identified with female characters and gravitated toward female children. [Bradley simulated girl's hair] with a brown tea towel. ... He would wake up every morning and put the towel on his head. When [his mother] tried to remove it, he would protest...

[A psychologist] explained to Carol that she and her husband would have to radically change their parenting. Bradley would no longer be allowed to spend time with girls. He would no longer be allowed to play with girlish toys or pretend that he was a female character.

But instead of conforming to social expectations, little Bradley rejected everything society told him (depite teasing, taunting, and bullying):

[Bradley's mother] would find female action figures stashed between couch pillows. Rainbow unicorns were hidden in the back of Bradley's closet. Bradley seemed at a loss, she said. They gave him male toys, but he chose not to play at all. ... [He] would color and draw for hours and hours and hours. ... Bradley would populate his pictures with the toys and interests he no longer had access to — princesses with long flowing hair, fairies in elaborate dresses, rainbows of pink and purple and pale yellow.

In other words, we listen to the words of society as long as those words resonate with our inborn preferences.  If not, then society's words have relatively little impact on us (except to cause stress).  Since perhaps 90% of us are hardwired to prefer what society tells us, we don't realize that we wouldn't heed those words if it wasn't in our innate programming.

Genetic scenarios, or, eat well and you'll have a boy

New studies show that if mothers eat well, they have a greater chance of conceiving a boy.  If mothers eat poorly, they have a greater chance of conceiving a girl.

Why?  It's genetic scenarios at work.  Mothers with "higher energy intake around the time of conception" are genetically designed to detect this scenario, which triggers the genetic response -- a greater chance of bearing sons.

How does it work?  Human evolution occurred over millions of years, through times of plenty and times of scarcity.  Our genes evolved to operate normally under various (expected) environmental scenarios:

Scenario 1 ("the peacetime scenario") - Sugar-detection circuitry in the mother (built by her genes) identifies that food is plentiful.  Time to trigger the genes that give her a greater chance of bearing sons, since wars are usually fought over resources, and neighboring tribes may want to steal their abundance.  She doesn't have to think about it, because the entire logic is built into her genes.

Scenario 2 ("the wartime scenario") - The same sugar-detection circuitry identifies that food is scarce.  Probably a war is raging, or just completed.  Time to birth more daughters, to rebuild the population.

The point is, genes are not deterministic in their outcomes.  They are designed to operate normally, under a number of anticipated "fuzzy" scenarios, or environments.  (On the other hand, our genes are not always right. Having high blood sugar could mean a poor diet of junk food and soda)

In any case, the response is 100% in our nature, responding to the nurture (i.e. environmental scenarios) for which our genes are designed to expect.  Genetic responses are designed with conditional logic ("IF A, THEN B, ELSE C").

The genetic "patch"

Scientists recently corrected a genetic disease (in zebrafish) using a "genetic patch".  The disease, Menkes disease, is caused by a variant of the ATP7A gene.  "The research could lead to the prevention of up to one-fifth of birth defects in humans caused by genetic mutations," according to the authors.

"Children who have Menkes disease have seizures, extensive neurodegeneration in the gray matter of the brain, abnormal bone development and kinky, colorless hair. Most children with Menkes die before age 10, and treatment with copper is largely ineffective."

Zebrafish are used in research, because they are transparent, breed quickly, and have other qualities that lend them to understanding human disease.

Who's your Daddy? (courtesy of Rite Aid)

Rite Aid pharmacy now sells an over-the-counter DNA paternity test.  Using a swab, you collect saliva of the mother, the child, and the alleged father.  In 3-5 days, you'll know who's really your daddy.

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.