Our public house is undergoing some long overdue renovations and updates. Please excuse any odd sights or sounds you may encounter here, while we improve our facilities in order to serve you better.
As I’ve written before, the field of human genetics has a diversity problem. Too many study cohorts consists of Europeans and Americans of European descent. This means that we’re mainly learning about genetic risk factors for whites, and thus African Americans, Hispanics, and Native Americans won’t benefit as much from advances in genetically informed medicine.
The solution is to do genetic studies on more diverse cohorts. But when you do that, you run into another problem: people assume that genetic studies of non-whites are motivated by … bad stereotypes, if not outright racism.
A case in point: Dylan Matthews tweeted out a PLOS Genetics paper, with the admittedly striking finding that some African Americans carry a genetic variant linked with an increased preference for menthol cigarettes:
To be clear, I’m not at all suggesting Matthews himself was impugning the authors’ motives. But the replies mocked the study and suggested that this was somehow bad science… as far as I can tell, because it draws a link between genetics and behavior in African Americans.
But this is exactly what a diverse science of human genetics looks like. All sorts of smoking behaviors have genetic links, and scientists (including some of my WashU colleagues) study them because they have the potential to help people live healthier lives. Why do some people quit smoking, while others try and fail? Should the FDA ban menthol cigarettes, as it has proposed to do ?
Genetic studies can help answer those questions. Genetic links with health-related behaviors are pervasive, and many are specific to particular populations. If we want genetics to not just benefit whites, we need studies like this one.
Aldous Huxley’s Ape and Essence (1948)
Written in the years after the catastrophic destruction of World War II ended with the initiation of the nuclear age, Aldous Huxley’s Ape and Essence is a graphically violent, sexually explicit, and surrealistic expression of Huxley’s bitter disappointment in humanity. The story is told via a rejected screenplay discovered by two friends on a Hollywood studio lot in 1947. All except the first section of the book consists of the text of the screenplay.
The discarded script starts out by portraying post-World War II society as a civilization of vicious baboons. After a series of surrealistic scenes interspersed with dramatic pronouncements by a narrator, the baboon civilization destroys itself, and the story focuses on a post-apocalyptic dystopia in the vicinity of what used to be Los Angeles. A botanist, Dr. Albert Poole, is a member New Zealand expedition scouting out the west coast of nuclear bomb-ravaged United States. (New Zealand survived the war unscathed.) Poole is out taking samples of plants when he’s taken captive by the natives, and finds that post-holocaust California society is now largely organized around a church devoted to Satan.
Dear Senator Blunt,
I am a geneticist in St. Louis, one of your constitutents, and I urge you to vote no on the Senate’s Better Care Reconciliation Act. This act would not only make health care coverage unaffordable for 22 million Americans, as the CBO has estimated, but it would also sabotage medical progress itself through its impact on health care coverage for the millions of people with pre-existing conditions.
Here’s how this would happen. One of the main goals of biomedical scientists like myself is to use advances in genetics to make medical care more effective and less expensive. As we make progress, a growing number of young, seemingly healthy people will discover that they have a genetic risk for a serious disease. In terms of medical care, this is a good thing, because such people can often get treatment before serious symptoms develop.
However, one consequence of early testing to prevent disease is that a seemingly healthy person is suddenly labeled as someone with a pre-existing condition. Without robust insurance protections, those people are doomed to a lifetime of unaffordable health costs. Under the Senate plan, which allows states to waive the requirement that insurance companies cover a broad range of essential health benefits, people at risk for a genetic disease would face a terrible choice: Risk your affordable health coverage by getting a test that may save your life, or skip the test and hope you don’t get sick.
For example, consider a teenager who knows that a sometimes fatal genetic heart condition, such as Long QT syndrome, runs in her family. A genetic test, together with a few other medical tests, will tell her if she has the condition. If the tests are positive, she’ll begin taking a drug that will dramatically lower her risk of dying. But she would also, as someone with a diagnosis of a serious disease, be excluded from affordable health insurance for the rest of her life, if the Senate plan is enacted into law. This disincentive to seek early care harms not only those with genetic diseases, but also all of us, by making genetic medicine more difficult to develop and implement, and thereby undermining medical progress.
Senator, you have consistently been a strong supporter of medical research, and I and my Missouri colleagues are grateful for your support. We urge you to show your support for medical research again by voting no on the Better Care Reconciliation Act.
Michael White, Ph.D.
The long quest for some funding may be easing a little, perhaps leaving some time and mental space to continue writing regularly here. In the mean time, enjoy this example of Francis Bacon’s remarkable gift for metaphor, from his Advancement of Learning, Book 2:
For as water, whether it be the dew of heaven or the springs of the earth, doth scatter and leese itself in the ground, except it be collected into some receptacle where it may by union comfort and sustain itself; and for that cause the industry of man hath made and framed springheads, conduits, cisterns, and pools, which men have accustomed likewise to beautify and adorn with accomplishments of magnificence and state, as well as of use and necessity; so this excellent liquor of knowledge, whether it descend from divine inspiration, or spring from human sense, would soon perish and vanish to oblivion, if it were not preserved in books, traditions, conferences, and places appointed, as universities, colleges, and schools, for the receipt and comforting of the same.
And here Bacon defends basic research:
First, therefore, amongst so many great foundations of colleges in Europe, I find strange that they are all dedicated to professions, and none left free to arts and sciences at large…
And this I take to be a great cause that hath hindered the progression of learning, because these fundamental knowledges have been studied but in passage. For if you will have a tree bear more fruit than it hath used to do, it is not anything you can do to the boughs, but it is the stirring of the earth and putting new mould about thee roots that must work it.