What is a disease? This seemingly abstract and theoretical question is actually among the most practical questions in all of biomedicine. How patients are diagnosed, treated, managed and excused from various social and moral obligations hinges on the answer that is given. So do issues of how research is done and health care paid for. The question is also becoming one of the most problematic issues that those in health care will face in the next decade.
"The revolution in our understanding of the human genome, molecular biology, and genetics is creating a huge--if little acknowledged--shift in the understanding of what a disease is."
That is because the current conception of disease is undergoing a revolutionary change, fueled by progress in genetics and molecular biology. The consequences of this shift in the definition of disease promise to be as impactful as any other advance in biomedicine has ever been, which is admittedly saying a lot for what is in essence a conceptual change rather than one based on an empirical scientific advance.
For a long time, disease was defined by patient reports of feeling sick. It was not until the twentieth century that a shift occurred away from subjective reports of clusters of symptoms to defining diseases in terms of physiological states. Doctors began to realize that not all symptoms of fever represented the presence of the same disease. Flu got distinguished from malaria. Diseases such as hypertension, osteoporosis, cancer, lipidemia, silent myocardial infarction, retinopathy, blood clots and many others were recognized as not producing any or slight symptoms until suddenly the patient had a stroke or died.
The ability to assess both biology and biochemistry and to predict the consequences of subclinical pathological processes caused a distinction to be made between illness—what a person experiences—and disease—an underlying pathological process with a predictable course. Some conditions, such as Gulf War Syndrome, PTSD, many mental illnesses and fibromyalgia, remain controversial because no underlying pathological process has been found that correlates with them—a landmark criterion for diagnosing disease throughout most of the last century.
"Diseases for which no relationship had ever been posited are being lumped together due to common biochemical causal pathways...that are amenable to the same curative intervention."
The revolution in our understanding of the human genome, molecular biology, and genetics is creating a huge--if little acknowledged--shift in the understanding of what a disease is. A better understanding of the genetic and molecular roots of pathophysiology is leading to the reclassification of many familiar diseases. The test of disease is now not the pathophysiology but the presence of a gene, set of genes or molecular pathway that causes pathophysiology. Just as fever was differentiated into a multitude of diseases in the last century, cancer, cognitive impairment, addiction and many other diseases are being broken or split into many subkinds. And other diseases for which no relationship had ever been posited are being lumped together due to common biochemical causal pathways or the presence of similar dangerous biochemical products that are amenable to the same curative intervention, no matter how disparate the patients' symptoms or organic pathologies might appear.
We used to differentiate ovarian and breast cancers. Now we are thinking of them as outcomes of the same mutations in certain genes in the BRCA regions. They may eventually lump together as BRCA disease.
Other diseases such as familial amyloid polyneuropathy (FAP) which causes polyneuropathy and autonomic dysfunction are being split apart into new types or kinds. The disease is the product of mutations in the transthyretin gene. It was thought to be an autosomal dominant disease with symptomatic onset between 20-40 years of age. However, as genetic testing has improved, it has become clear that FAP's traditional clinical presentation represents a relatively small portion of those with FAP. Many patients with mutations in transthyretin — even mutations commonly seen in traditional FAP patients — do not fit the common clinical presentation. As the mutations begin to be understood, some people that were previously thought to have other polyneuropathies, such as chronic inflammatory demyelinating neuropathy, are now being rediagnosed with newly discovered variants of FAP.
"We are at the start of a major conceptual shift in how we organize the world of disease, and for that matter, health promotion."
Genome-wide association studies are beginning to find many links between diseases not thought to have any connection or association. For example some forms of diabetes, rheumatoid arthritis and thyroid disease may be the products of a small family of genetic mutations.
So why is this shift toward a genetic and molecular diagnostics likely to shake up medicine? One obvious way is that research projects may propose to recruit subjects not according to current standards of disease but on the basis of common genetic mutations or similar errors in biochemical pathways. It won't matter in a future study if subjects in a trial have what today might be termed nicotine addiction or Parkinsonism. If the molecular pathways producing the pathology are the same, then both groups might well wind up in the same trial of a drug.
In addition, what today look like common maladies—pancreatic cancer, severe depression, or acne, for example, could wind up being subdivided into so many highly differentiated versions of these conditions that each must be treated as what we now classify as a rare or ultra-rare disease. Unique biochemical markers or genetic messages may see many diseases broken into a huge number of distinct individual disease entities.
Patients may find that common genetic pathways or multiple effects from a single gene may create new alliances for fund-raising and advocacy. Groups fighting to cure mental and physical illnesses may wind up forgetting about their outward differences in the effort to alter genes or attack common protein markers.
Disease classification appears stable to us—until it isn't. And we are at the start of a major conceptual shift in how we organize the world of disease, and for that matter, health promotion. Classic reductionism, the view that all observable biological phenomena can be explained in terms of underlying chemical and physical principles, may turn out not to be true. But the molecular and genetic revolutions churning through medicine are illustrating that reductionism is going to have an enormous influence on disease classification. That is not a bad thing, but it is something that is going to take a lot to get used to.
In the 1990s, a mysterious virus spread throughout the Massachusetts Institute of Technology Artificial Intelligence Lab—or that’s what the scientists who worked there thought. More of them rubbed their aching forearms and massaged their cricked necks as new computers were introduced to the AI Lab on a floor-by-floor basis. They realized their musculoskeletal issues coincided with the arrival of these new computers—some of which were mounted high up on lab benches in awkward positions—and the hours spent typing on them.
Today, these injuries have become more common in a society awash with smart devices, sleek computers, and other gadgets. And we don’t just get hurt from typing on desktop computers; we’re massaging our sore wrists from hours of texting and Facetiming on phones, especially as they get bigger in size.
In 2007, the first iPhone measured 3.5-inches diagonally, a measurement known as the display size. That’s been nearly doubled by the newest iPhone 13 Pro, which has a 6.7-inch display. Other phones, too, like the Google Pixel 6 and the Samsung Galaxy S22, have bigger screens than their predecessors. Physical therapists and orthopedic surgeons have had to come up with names for a variety of new conditions: selfie elbow, tech neck, texting thumb. Orthopedic surgeon Sonya Sloan says she sees selfie elbow in younger kids and in women more often than men. She hears complaints related to technology once or twice a day.
The addictive quality of smartphones and social media means that people spend more time on their devices, which exacerbates injuries. According to Statista, 68 percent of those surveyed spent over three hours a day on their phone, and almost half spent five to six hours a day. Another report showed that people dedicate a third of their day to checking their phones, while the Media Effects Research Laboratory at Pennsylvania State University has found that bigger screens, ideal for entertainment purposes, immerse their users more than smaller screens. Oversized screens also provide easier navigation and more space for those with bigger hands or trouble seeing.
But others with conditions like arthritis can benefit from smaller phones. In March of 2016, Apple released the iPhone SE with a display size of 4.7 inches—an inch smaller than the iPhone 7, released that September. Apple has since come out with two more versions of the diminutive iPhone SE, one in 2020 and another in 2022.
These devices are now an inextricable part of our lives. So where does the burden of responsibility lie? Is it with consumers to adjust body positioning, get ergonomic workstations, and change habits to abate tech-related pain? Or should tech companies be held accountable?
Kavin Senapathy, a freelance science journalist, has the Google Pixel 6. She was drawn to the phone because Google marketed the Pixel 6’s camera as better at capturing different skin tones. But this phone boasts one of the largest display sizes on the market: 6.4 inches.
Senapathy was diagnosed with carpal and cubital tunnel syndromes in 2017 and fibromyalgia in 2019. She has had to create a curated ergonomic workplace setup, otherwise her wrists and hands get weak and tingly, and she’s had to adjust how she holds her phone to prevent pain flares.
Recently, Senapathy underwent an electromyography, or an EMG, in which doctors insert electrodes into muscles to measure their electrical activity. The electrical response of the muscles tells doctors whether the nerve cells and muscles are successfully communicating. Depending on her results, steroid shots and even surgery might be required. Senapathy wants to stick with her Pixel 6, but the pain she’s experiencing may push her to buy a smaller phone. Unfortunately, options for these modestly sized phones are more limited.
These devices are now an inextricable part of our lives. So where does the burden of responsibility lie? Is it with consumers like Senapathy to adjust body positioning, get ergonomic workstations, and change habits to abate tech-related pain? Or should tech companies be held accountable for creating addictive devices that lead to musculoskeletal injury?
Kavin Senapathy, a freelance journalist, bought the Google Pixel 6 because of its high-quality camera, but she’s had to adjust how she holds the oversized phone to prevent pain flares.
A one-size-fits-all mentality for smartphones will continue to lead to injuries because every user has different wants and needs. S. Shyam Sundar, the founder of Penn State’s lab on media effects and a communications professor, says the needs for mobility and portability conflict with the desire for greater visibility. “The best thing a company can do is offer different sizes,” he says.
Joanna Bryson, an AI ethics expert and professor at The Hertie School of Governance in Berlin, Germany, echoed these sentiments. “A lot of the lack of choice we see comes from the fact that the markets have consolidated so much,” she says. “We want to make sure there’s sufficient diversity [of products].”
Consumers can still maintain some control despite the ubiquity of tech. Sloan, the orthopedic surgeon, has to pester her son to change his body positioning when using his tablet. Our heads get heavier as they bend forward: at rest, they weigh 12 pounds, but bent 60 degrees, they weigh 60. “I have to tell him, ‘Raise your head, son!’” she says. It’s important, Sloan explains, to consider that growth and development will affect ligaments and bones in the neck, potentially making kids even more vulnerable to injuries from misusing gadgets. She recommends that parents limit their kids’ tech time to alleviate strain. She also suggested that tech companies implement a timer to remind us to change our body positioning.
In 2017, Nan-Wei Gong, a former contractor for Google, founded Figur8, which uses wearable trackers to measure muscle function and joint movement. It’s like physical therapy with biofeedback. “Each unique injury has a different biomarker,” says Gong. “With Figur8, you are comparing yourself to yourself.” This allows an individual to self-monitor for wear and tear and strengthen an injury in a way that’s efficient and designed for their body. Gong noticed that the work-from-home model during the COVID-19 pandemic created a new set of ergonomic problems that resulted in injuries. Figur8 provides real-time data for these injuries because “behavioral change requires feedback.”
Gong worked on a project called Jacquard while at Google. Textile experts weave conductive thread into their fabric, and the result is a patch of the fabric—like the cuff of a Levi’s jacket—that responds to commands on your smartphone. One swipe can call your partner or check the weather. It was designed with cyclists in mind who can’t easily check their phones, and it’s part of a growing movement in the tech industry to deliver creative, hands-free design. Gong thinks that engineers at large corporations like Google have accessibility in mind; it’s part of what drives their decisions for new products.
Display sizes of iPhones have become larger over time.
Sourced from Screenrant https://screenrant.com/iphone-apple-release-chronological-order-smartphone/ and Apple Tech Specs: https://www.apple.com/iphone-se/specs/
Back in Germany, Joanna Bryson reminds us that products like smartphones should adhere to best practices. These rules may be especially important for phones and other products with AI that are addictive. Disclosure, accountability, and regulation are important for AI, she says. “The correct balance will keep changing. But we have responsibilities and obligations to each other.” She was on an AI Ethics Council at Google, but the committee was disbanded after only one week due to issues with one of their members.
Bryson was upset about the Council’s dissolution but has faith that other regulatory bodies will prevail. OECD.AI, and international nonprofit, has drafted policies to regulate AI, which countries can sign and implement. “As of July 2021, 46 governments have adhered to the AI principles,” their website reads.
Sundar, the media effects professor, also directs Penn State’s Center for Socially Responsible AI. He says that inclusivity is a crucial aspect of social responsibility and how devices using AI are designed. “We have to go beyond first designing technologies and then making them accessible,” he says. “Instead, we should be considering the issues potentially faced by all different kinds of users before even designing them.”
Jessica Ware is obsessed with bugs.
My guest today is a leading researcher on insects, the president of the Entomological Society of America and a curator at the American Museum of Natural History. Learn more about her here.
You may not think that insects and human health go hand-in-hand, but as Jessica makes clear, they’re closely related. A lot of people care about their health, and the health of other creatures on the planet, and the health of the planet itself, but researchers like Jessica are studying another thing we should be focusing on even more: how these seemingly separate areas are deeply entwined. (This is the theme of an upcoming event hosted by Leaps.org and the Aspen Institute.)
Listen to the Episode
Entomologist Jessica Ware
D. Finnin / AMNH
Maybe it feels like a core human instinct to demonize bugs as gross. We seem to try to eradicate them in every way possible, whether that’s with poison, or getting out our blood thirst by stomping them whenever they creep and crawl into sight.
But where did our fear of bugs really come from? Jessica makes a compelling case that a lot of it is cultural, rather than in-born, and we should be following the lead of other cultures that have learned to live with and appreciate bugs.
The truth is that a healthy planet depends on insects. You may feel stung by that news if you hate bugs. Reality bites.
Jessica and I talk about whether learning to live with insects should include eating them and gene editing them so they don’t transmit viruses. She also tells me about her important research into using genomic tools to track bugs in the wild to figure out why and how we’ve lost 50 percent of the insect population since 1970 according to some estimates – bad news because the ecosystems that make up the planet heavily depend on insects. Jessica is leading the way to better understand what’s causing these declines in order to start reversing these trends to save the insects and to save ourselves.