(This series of posts reviews in detail Francis Collins’s book The Language of God: A Scientist Presents Evidence for Belief, originally published in 2006. The page numbers cited are from the large print edition published in 2007.)

In the Appendix of Francis Collins’s book The Language of God: A Scientist Presents Evidence for Belief (2006), he tackles the difficult ethical issues raised by advances in science and medicine, especially in the field of molecular biology. His own major contributions to the human genome have undoubtedly made him acutely conscious of these issues. Collins’s describes the science and the issues arising from them very clearly and this Appendix is well worth reading.

Having mapped out the entire human genome, scientists are now in the position of being potentially able to identify the presence of genes that may predispose people to certain diseases or behaviors long before those things have manifested themselves in observable ways. This ability has, of course, some obvious advantages in the prevention and treatment of diseases.

For example, breast cancer has a hereditary component that can be identified by the presence of a dangerous mutation in the gene BRCA1 on chromosome 17. This mutation, which also creates a greater risk for ovarian cancer, can be carried by fathers as well, even though they themselves may not have the disease. In those families in which breast cancer is prevalent, knowing who has the mutated gene and who hasn’t may influence how closely they are monitored and what treatments they might be given.

As time goes by, our genetic predisposition to more and more hereditary diseases will be revealed. But is this an unqualified good thing?

On the plus side, having this knowledge may enable those people at risk to take steps (diet, exercise, preventative treatment) that can reduce their risk of actually contracting the disease. After all, genes are usually not the only (or even the main) factor in causing disease and we often have some degree of control over the other risk factors for diseases such as diabetes or blood clotting.

We may also be able to treat more genetic diseases by actually changing an individual’s genes, although currently the only changes being made are to the genes in the somatic cells (the ones that make up our bodies) and not the ones in the ‘germ’ line cells (the ones that are passed on to children via the egg and sperm). At present, there is a scientific and medical consensus that influencing the genes of future generations by changing the germ line is not something we should do.

Furthermore, our bodies’ reaction to drugs is also often affected by our genes. That knowledge can be used to individualize treatment, to determine which drug should be given to which patient, and even to design drugs that take maximum advantage of an individual’s genetic makeup. This kind of personalized medicine lies in our future.

But there are negatives to this brave new world of treatment. Should everyone have their DNA mapped to identify potential risk factors? And who should have access to a person’s genetic information?

Some people may prefer not to know the likelihood of what diseases they are predisposed to, especially in those cases where nothing much can be done to avert the disease or what needs to be done would diminish by too much the quality of life of the individual. Furthermore, they may fear that this information could be used against them. If they have a predisposition for a major disease and this knowledge reaches the health insurance companies, the latter may charge them higher premiums or even decline to cover them at all. After all, the profit-making basis on which these companies run makes them want to only insure the pool of healthy people and deny as much coverage as possible to those who actually need it.

It works the other way too. If someone knows they have a potential health problem but the insurance companies don’t, they may choose health (and life) insurance policies that work to their advantage.

So genetic information can become a pawn in the chess game played between the individual and the health (and life) insurance agencies.

This is, by the way, another major flaw of the current employer-based private health insurance schemes in the US. If we had a single-payer, universal health care system as is the case in every other developed country, and even in many developing countries, this problem regarding genetic knowledge would not even arise. Everyone would be covered automatically irrespective of their history, the risk would be spread over the entire population, and the only question would be the extent to which the taxpayers wanted to fund the system in order to cover treatment. That would be a matter determined by public policy rather than private profit. There would still be ethical issues to be debated (such as on what basis to prioritize and allocate treatment) but the drive to minimize treatment to maximize private profit would be absent, and that is a huge plus.

There are other issues to consider. What if we find a gene that has a propensity for its bearer to commit crimes or other forms of antisocial behavior? Would it be wrong to use this knowledge to preventively profile and incarcerate people? It has to be emphasized that our genes almost always are not determinants of behavior but at best provide small probabilistic estimates. But as I have written before, probability and statistics is not easy to understand, and the knowledge that someone has a slightly greater chance of committing a crime can, if publicly known, be a stigma that person can never shake, however upstanding and moral a person he or she tries to be.

There is also the question of what to do with people who want to use treatments that have been developed for therapeutic purposes in order to make themselves (or their children) bigger, taller, stronger, faster, better-looking, and even smarter (or so they think) so that they will have an advantage over others. That thought-provoking film Gattaca (1997) envisions a future where parents create many fertilized eggs, examine the DNA of each, and select only those which contain the most advantageous genetic combinations to implant in the uterus. Collins points out that while this is theoretically possible, in practice it cannot be used to select for more than two or three genes. Even then, there are no guarantees that environmental effects as the child is growing up may not swamp the effects of the carefully selected genes. (p. 354)

Collins argues, and I agree with him, that these are important ethical decisions that should not be left only to scientists but should involve the entire spectrum of society. He appeals to the Moral Law as general guidance for dealing with these issues (p. 320). In particular he advocates four ethical principles (formulated by T. L. Beauchamp and J. F. Childress in their book Principles of Biomedical Ethics, 1994) that we might all be able to agree on in making such decisions. They are:

1. Respect for autonomy – the principle that a rational individual should be given freedom in personal decision making, without undue outside coercion.
2. Justice – the requirement for fair, moral, and impartial treatment of all persons
3. Beneficence – the mandate to treat others in their best interest
4. Nonmaleficence – “First do no harm” (as in the Hippocratic Oath)

These are good guidelines, though many problems will undoubtedly arise when such general secular ethical principles collide with the demands of specific religious beliefs and cultural practices. When supposedly infallible religious texts become part of the discussion, it makes it almost impossible to seek underlying unifying moral and ethical principles on which to base judgments.

POST SCRIPT: Brace yourself

Matt Taibbi warns that this presidential election is going to be very rough.