Category: This Mortal Coil

Damned if you do, damned if you don’t

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:

https://twitter.com/dylanmatt/status/1101204748924059654

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.

How to View the Solar Eclipse Safely

Follow this link to see the recommendations for safe eclipse viewing (including how to know if your eclipse glasses are real eclipse glasses) from NASA in conjunction with the American Astronomical Society, American Academy of Ophthalmology, American Academy of Optometry, American Optometric Association & the National Science Foundation:

HOW TO VIEW THE SOLAR ECLIPSE SAFELY

An Open Letter to Senator Roy Blunt: Save Medical Research By Voting No on the BCRA

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.

Sincerely,

Michael White, Ph.D.

Genomics and the Power of Public Health

On a bad day in the lab, we sometimes joke that if we really wanted to help save lives, we’d forget about molecular biology and go help people quit smoking. Relatively simple public health efforts – clean water, washing your hands before moving from one sick patient to another, basic vaccines – generally save many more lives that the cures that come out of the high tech stuff we do in the lab. Cancer immunotherapy may turn out to be a major advance in cancer treatment, but we’d reduce cancer even more if we could get everyone to quit smoking, lose weight, and stay physically active.

Genomics, whose near-term medical benefits have been the subject of a lot of hype, may turn out to be a high-tech, scientifically complex effort that actually does to have a big impact on people’s lives. As I discuss in my Pacific Standard column this week, part of that will be the long-term medical benefits that grow out of a better understanding of biology. But a more dramatic – and more near-term – impact may be how genomics changes public health. As some sort of genome analysis becomes a routine part of normal medical care, genetics will be integrated with other public health screenings (like testing your cholesterol), which, as two recent studies show, could have a big impact on avoiding preventable consequences of common diseases. Once exome sequencing is cheap enough, there could be a possible benefit of combining genomic screenings using existing medical knowledge – we don’t need to wait for distant future discoveries.

The takeaway is that policy and the infrastructure of the healthcare system, and not science, may soon be the rate-limiting step for realizing the medical benefits of genomics in some cases. Physicians, insurers, hospitals, and the health care system in general is utterly unprepared to handle the kinds of genomic data that could, in the near future, improve routine medical care.

The FDA is not holding back effective drugs

It’s going unnoticed amidst the news of the rolling disaster that is the incoming Trump administration, but our lame duck Congress has just passed a major piece of legislation called the 21st century cures act. Scientists are happy about the extra $5 billion this bill gives to the NIH – sort of. That money has to go to specific programs, like the Precision Medicine Initiative and Biden’s Moonshot program, rather than being put into the general funds of the NIH, meaning that Congress, and not the NIH, is deciding what specific research to fund. That’s generally not a good idea, but more money toward broad research and translational initiatives like cancer and precision medicine is still a net win.

More controversial are the FDA provisions of this bill. The bill pushes the FDA to take into account other, often less rigorous types of clinical studies when it decides whether or not to approve a new drug. Some worry that this means drug companies will have more leeway to push unsafe or ineffective drugs on the market. I’m more ambivalent – there are cases (drugs for rare diseases) when double blind randomized clinical trials may not be right, and the FDA should have the flexibility to demand the best evidence appropriate to each case. If – and this is a big if as we look ahead – we trust that the FDA can stand up to industry pressure, than giving them more flexibility to follow best scientific practices is the way to go.

My bigger problem with the FDA provisions are that the premise is flawed. As I write in Pacific Standard this week, the bill’s sponsors argue that, by cutting regulations and red tape at the FDA, we’ll free new cures that are just waiting to be put into the hands of patients. That’s wrong – the FDA is not the rate limiting step here. There is no backlog of effective new drugs just waiting to be approved.

Go check out my piece for the details. The rate limiting step is the science. Medical science is hard, and diseases are understood imperfectly. If you want more effective drugs faster, we need to invest more in research.