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:

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.


Filed under: This Mortal Coil Tagged: healthcare, Politics

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.


Filed under: This Mortal Coil Tagged: genomics, medicine

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.


Filed under: Follies of the Human Condition, This Mortal Coil, Uncategorized Tagged: drugs, FDA, science funding

The Genetic Nightmare of Diabetes

After 10 years of genomic studies, our understanding of the genetic architecture of diabetes is… still a mess. Or, if you prefer, a nightmare. That’s the message of the most extensive Type 2 Diabetes GWAS to date. Looking for rare genetic variants linked with diabetes, researchers performed whole-genome or exome sequencing on 15,000 people… and came up with nothing new.

This is an important negative result, in that it advances our knowledge of the genetic architecture of diabetes – odds are that many common genetic variants, each with individual small effects, contribute to one’s total genetic risk for the disease. It also illustrates just how hard it will be to realize the goals of personalized medicine. So let’s avoid the hype when we talk about how genomics is going to revolutionize medicine.

I explain the study and its implications in my piece this week at Pacific Standard.  Go read it to learn more about the challenges ahead that face personalized medicine.


Filed under: This Mortal Coil Tagged: Genome-wide association study, genomics

Off-the-shelf drugs against Zika

As with the ebola outbreak on 2014, we’re facing the Zika pandemic without any drugs or vaccines.  Several rapidly developed Zika vaccines are now entering clinical trial, but we urgently need effective drugs that we can give to infected pregnant women, to protect their unborn children from the awful birth defects that the virus can cause.

Drug development takes a long time. However, one group at the University of Texas Galveston tried a short-cut: test drugs that are already approved by the FDA to see if any can prevent Zika infections. They tested 700 drugs in vitro (i.e., i cells in a petri dish) and found 20 that showed some efficacy in different cell types. Some of these are safe to give to pregnant women, and at least one, ivernectin is a cheap anti-parasite drug already taken by millions of people world-wide.

Obviously whether any of these drugs are effective in actual people is an open question. But the beauty of this is that the safety of these drugs has already been tested. We can start enrolling people in clinical trials to test their efficacy now.

I wrote more about this story over at Pacific Standard – go give it a read.


Filed under: This Mortal Coil Tagged: zika

Lise Meitner

I’m taking a writing class at the moment, and one of the assignments was to write a profile about Lise Meitner:

Lise Meitner with Otto Hahn

Lise Meitner with Otto Hahn

On Christmas Eve, 1938, sitting on a tree trunk in the snow in Sweden, Lise Meitner and her nephew Otto Frisch figured out the mechanism of nuclear fission. They had gone for a walk during a family holiday to discuss a letter Meitner had received from her colleague Otto Hahn. He asked for her opinion on a strange scientific phenomenon he had discovered.

Until a few months earlier, Meitner and Hahn had worked closely together at the Kaiser Wilhelm Institute (KWI) in Berlin, where they studied the effect of bombarding uranium atoms with neutrons.

Meitner had moved to Berlin shortly after completing her doctorate degree in her birth city of Vienna. She was one of the first women to reach this level of academia, and encountered some archaic attitudes and ideas: in Berlin, she worked unsalaried for a few years, and was occasionally expected to entertain the wives of visiting physicists while the men talked about science.

During the three decades she worked in Berlin, Meitner made Germany her home, but when the Second World War edged closer, it was no longer safe for Jewish people in Germany. With her piercing brown eyes, dark frizzy hair and pronounced nose, Meitner’s heritage was unmistakable. She fled to Sweden in July 1938, with help from an international group of friends and colleagues from the physics community.

Now, six months later, Hahn’s curious letter had reached her. He described how, after another round of shooting neutrons at uranium, he discovered barium in the reaction mixture. Where had it come from? Pondering this question with Frisch during their winter walk, Meitner realised that the neutron in Hahn’s experiment must have split the uranium atom in half. This would leave two smaller atoms in its place, which would continue to produce even smaller atoms, and generate large amounts of energy.

The discovery came at a dangerous time: Could the Nazis use this technology to create a weapon? The USA quickly launched the Manhattan Project to ensure they were the first to build an atomic bomb. Meitner was invited to join, but she refused. She didn’t want to be part of such a violent application of her discovery – not even to defeat the enemy who had chased her out of Germany.

After the war, Meitner spent several months in the USA as part of a visiting professorship. She was named Woman of the Year there, in 1946, and was interviewed by Eleanor Roosevelt for NBC radio.  Roosevelt told her: “We are proud of your contributions as a woman in science”.

Meitner continued to inspire women in science throughout her retirement years. A photo taken at Bryn Mawr, in 1959, shows her sitting casually on the steps of a university building. Her frizzy hair now grey, but with the same dark piercing eyes, she is surrounded by students in long floral skirts who have come to hear her fascinating stories.

Maybe she told them about the time she went for a walk with her nephew, through the snow in a cold Swedish winter. Or maybe they asked her about that other winter in Sweden, when in December 1945, Hahn – and Hahn alone – received the Nobel Prize in Chemistry at the award ceremony in Stockholm.

It’s an oversight that’s still often mentioned, especially in the context of continuing challenges to retain women at the top level of science.  But even without a Nobel Prize, Meitner was well-respected, and happy to sit down for a chat about her work: in the snow with her nephew, on the radio with a former president’s wife, or casually outside on the steps with admiring students.

Image: Meitner and Hahn. Public domain, via Wikimedia. Other image described in the text was not free to use, so click that text for a link.


Filed under: Follies of the Human Condition, This Mortal Coil

Art of Science: Anatomical Art, in So Many Words

 

beatPoetryMedium

Beat Poetry, Digital Print, Stephen Gaeta

When cardiologist Stephen Gaeta was finishing his PhD on cardiac arrhythmias, he decided to do something more creative than just hang his diploma on the wall.  He used the words of his dissertation as create an image of an anatomical heart, which he signed with a segment of his own ekg. He later redesigned the heart using an 1809 monograph on cardiology and renamed it Beat Poetry. Since then, he has continued to create images from classic scientific texts, including an eyeball, a transgenic mouse and a set of lungs (below). The lungs feature the text of the 1628 treatise Exercitatio Anatomica de Motu Cordis et Sanguinis in Animalibus (An Anatomical Exercise on the Motion of the Heart and Blood in Living Beings) by William Harvey. You can read more about his work and buy prints at Street Anatomy.

airwayMedium

Airway, Digital Print, Stephen Gaeta


Filed under: The Art of Science, This Mortal Coil Tagged: Anatomical Art, anatomy art, cardiology art, digital art, science art, Stephen Gaeta

Science for the People: Contraception

sftp-square-fistonly-whitebgThis week, Science for the People is taking a closer look at our current – and potential future – contraceptive methods. We’ll speak with Beth Sundstrom and Andrea DeMaria, Co-Directors of the Women’s Health Research Team at the College of Charleston, about why the pill is still our go-to birth control choice when we have long acting reversible contraception methods like the IUD and the implant available for women. And we’ll talk with Elaine Lissner, Executive Director of the Parsemus Foundation, about their continuing work to bring Vasalgel, a long acting, reversible, non-hormonal male contraceptive, to market.

Science for the People is now part of the Skepchick Network.

Don’t forget to support the Science for the People on Patreon to keep the sciencey goodness flowing toward your ear holes.

*Josh provides research help to Science for the People and is, therefore, completely biased.


Filed under: This Mortal Coil Tagged: Andrea DeMaria, Beth Sundstrom, birth control, College of Charleston, contraception, Elaine Lissner, IUD, Parsemus Foundation, Podcast, science for the people, the pill, vasalgel, Women's Health Research Team