Philosophy of Genetics

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.