Category: Global Health

  • Unlocking the Code of Life: Genomic Testing

    Unlocking the Code of Life: Genomic Testing

    In the last few decades, genomic testing has emerged as one of the most transformative advancements in modern medicine and science. Genomic testing, or genetic testing, is a technique used to analyze DNA, the blueprint of life, to uncover genetic variations that may predispose individuals to certain diseases, influence drug responses, or reveal ancestry and traits. This technology is not just revolutionizing healthcare but also shaping our understanding of human biology, disease prevention, and personalized medicine.

    What is Genomic Testing?

    Genomic testing involves analyzing an individual’s genome—the complete set of their DNA—to identify genetic markers associated with health, ancestry, or traits. It ranges from targeted testing of specific genes to whole genome sequencing, where an individual’s entire DNA is mapped. Applications of genomic testing include:

    • Disease Risk Assessment: Identifying genetic predispositions to conditions like cancer, cardiovascular diseases, and neurological disorders.
    • Pharmacogenomics: Tailoring medications to an individual’s genetic makeup to improve efficacy and reduce side effects.
    • Carrier Screening: Determining if an individual carries genetic conditions that could be passed to offspring.
    • Ancestry and Traits Analysis: Understanding lineage and inherited characteristics.

    Key Players in the Genomic Testing Industry

    The field of genomic testing is driven by both pioneering companies and research institutions. Companies like 23andMe specialize in direct-to-consumer genetic testing, offering insights into ancestry and health traits, while Illumina leads the charge in genome sequencing technology, providing tools for research and clinical applications. Myriad Genetics is renowned for its focus on hereditary cancer testing, including BRCA gene analysis. Similarly, AncestryDNA has gained popularity for helping individuals explore their family history and genetic heritage. Another key player, Color Genomics, emphasizes affordable, clinical-grade genetic testing for hereditary conditions. Together, these organizations, alongside academic and healthcare institutions, are making genomic testing more accessible and accurate.

    Benefits of Genomic Testing

    Genomic testing is revolutionizing medicine by making healthcare more personalized and preventive. Physicians can use genetic information to tailor treatment plans, detect diseases early, and counsel patients on lifestyle adjustments to mitigate risks. For example, genetic testing for BRCA1 and BRCA2 mutations has empowered many individuals to take proactive measures against hereditary breast and ovarian cancers. Beyond healthcare, it has also provided insights into human history and migration patterns.

    Ethical and Privacy Considerations

    While the potential of genomic testing is enormous, it is crucial to approach it with caution, particularly regarding ethical and privacy concerns. Once your genetic information is analyzed and stored, it may be vulnerable to misuse. Data breaches could expose sensitive information, and there is the risk of genetic discrimination by employers or insurance companies—despite laws like the Genetic Information Nondiscrimination Act (GINA) in the United States.

    Furthermore, questions arise about consent and ownership. Who truly owns your genetic data—you, the testing company, or a third-party partner? Some companies sell anonymized data to pharmaceutical firms for research, raising concerns about transparency. Before submitting a sample for testing, carefully review the company’s privacy policies and data-sharing agreements. Opt for companies with robust security protocols and transparent policies to safeguard your information.

    A New Chapter in Medicine

    Genomic testing is a powerful tool that holds the potential to transform healthcare and enrich our understanding of ourselves. However, as we embrace this technology, we must remain vigilant about its ethical and privacy implications. By educating ourselves about the benefits and risks, we can make informed decisions about our genetic data and contribute to a future where genomics improves health outcomes while safeguarding individual rights.

    As genomic testing becomes increasingly common, it’s essential for the public to engage with this transformative science thoughtfully. The possibilities are endless, but so are the responsibilities that come with it.

    If you enjoyed this article, buy me a coffee, and/or be the first to share your thoughts with me in the comments section below.

  • What if you could rank food by ‘healthiness’ as you shopped? Nutrient profiling systems use algorithms to simplify picking healthy groceries

    What if you could rank food by ‘healthiness’ as you shopped? Nutrient profiling systems use algorithms to simplify picking healthy groceries

    Christopher Damman, University of Washington

    Imagine a world where food on grocery store shelves is ranked by its healthiness, with simple, research-backed scores. In some countries, that world already exists.

    Nutrient profiling systems, or NPSs, support clear front-of-package labels that assess food quality based on nutrient content. Nutri-Score in France is a rainbow-colored system grading foods from A to E. Health Star Rating in Australia is a five-star system rating foods in half-star increments. And the Traffic Light System in the U.K. labels nutrient levels as green, yellow or red.

    In contrast, the U.S. lacks a front-of-package ranking system for food. Food Compass was recently developed out of Tufts University to help address this gap and shortcomings in other systems. But it uses nutritional information not currently available for most foods and consumers.

    As a gastroenterologist and physician-scientist, I focus on making the latest microbiome and nutrition data more accessible to the public. Drawing on this research, I developed Nutrient Consume Score, or NCS, which rates foods from 1 to 100 using nutritional information available for all foods and incorporates factors important for a healthy microbiome.

    But how do nutrient profiling systems work? And how do they compare to other nutrition guides for consumers?

    Nutrient cyphers

    Each nutrient profiling system uses different scoring algorithms, but most assign positive points to nutrients and foods that are typically underconsumed, such as fiber, fruits and vegetables. Conversely, negative points are given to overconsumed nutrients like sugar, saturated fat and sodium, which are often added to processed foods. These points are combined into a single score: higher scores indicate healthier foods, while lower scores indicate less healthy options.

    For example, kale – rich in fiber, potassium and unsaturated fats, while low in sugar, sodium and saturated fats – would earn a high score. In contrast, Twinkies, which are high in sugar, sodium and saturated fats, but low in fiber, potassium and unsaturated fats, would receive a low score. A food like black olives, high in fiber but also high in sodium, would fall somewhere in between.

    Person looking at nutrition label of nut butter product in grocery store
    Clear nutritional information can help inform healthy food choices. chabybucko/E+ via Getty Images

    Nutrient profiling systems work similarly to the Nutrition Facts labels on the back or sides of food packages in helping consumers make informed choices. These labels provide information about a food’s nutrient content, including calories, macronutrients, and key vitamins and minerals. The values are determined through laboratory analysis and nutrient databases based on standardized serving sizes regulated by the Food and Drug Administration.

    But NPSs differ in that they combine nutrition information into a single actionable score. This means you don’t have to spend time deciphering Nutrition Facts labels, which are often in small print and can be confusing to interpret.

    Ultraprocessed profiling

    Nutrient profiling system algorithms are all quite similar in their high ranking of unprocessed foods – beans, nuts, seeds, fruits, vegetables and whole grains – and low ranking of processed foods like hot dogs, soft drinks, cakes and cookies. They help people rebalance their diets that have been skewed by food processing, or the degree to which the ingredients have been altered.

    They complement the NOVA classification system developed by researchers at the University of São Paulo, which categorizes foods based on their level of processing. This system introduced the term “ultra-processed foods,” which are foods that have undergone significant industrial processing and contain ingredients not typically found in home cooking.

    While NOVA has linked ultra-processed foods to poor health outcomes like obesity, worse mental health, cancer and early death, it treats all such foods equally, overlooking differences like amount of sugar, sodium and other additives.

    Sign hanging off shelf of grocery store with letters A to E assigned green to red, the sign reading '5 couleurs pour vous réperer sur les emballages'
    France’s Nutri-Score rates the nutritional value of foods from A to E. Laurie Dieffembacq/Belga/AFP via Getty Images

    Nutrient profile systems help provide nuance by identifying healthier options within the ultra-processed category. For example, plant-based milks, such as almond or soy milk, may be classified as ultra-processed under the NOVA system, but they can have relatively higher NPS scores if they contain minimal added sugars and salt.

    Ratios and bioactives in balance

    While nutrient profiling systems can be useful for choosing healthier options, current systems have limitations. They don’t always align perfectly with other research, often overlook the bioactive chemicals that regulate microbiome and body processes, and may rely on incomplete data. Current systems also don’t account for the caloric and health effects of alcohol.

    The Nutrient Consume Score I designed aims to address these gaps by incorporating these neglected components of food. For example, it uses food categories as proxies for areas with limited data, including bioactive compounds like polyphenols, omega-3 fats and fermentable fibers. Proxies for bioactive compounds found in unprocessed foods – such as fruits, vegetables, grains, beans, nuts and seeds – are integrated into the score’s core algorithm, which uses nutrient ratios to measure the degree of food processing.

    Nutrient ratios – including carbohydrate-to-fiber, saturated fat-to-unsaturated fat and sodium-to-potassium – reflect the natural balance of nutritional content of the cells in unprocessed foods, which research has shown correlate with cardiometabolic health.

    Assorted vegetables stacked on top of each other
    Whole foods often have their nutrients in balance. Halfdark/fStop via Getty Images

    For example, the cell walls of plants provide structural strength and are rich in fiber, while their energy vesicles store carbohydrates. Fiber reduces sugar absorption and is fermented into the compound butyrate, which maintains blood sugar and regulates appetite.

    The fat profiles of unprocessed foods are similar to the fat composition in cell membranes. Saturated fat-to-unsaturated fat ratios capture how different types of fat, affect inflammation and weight.

    Finally, the potassium-to-sodium ratio reflects the natural function of cell membrane pumps, which concentrate potassium inside cells while transporting sodium out. This affects blood pressure as well as microbiome and metabolic health.

    Research currently under peer review shows that the Nutrient Consume Score compares favorably with other systems. Derived from nutrition data from nearly 5,000 Americans, NCS sores are linked to blood pressure, waist circumference and weight. NCS has also been incorporated into a smartphone app intended for public use, currently in beta testing.

    Empowering smart choices

    While nutrient profiling systems are a promising tool for healthier food choices, they come with important caveats. Most studies testing how well they work focus on how two factors relate to each other rather than whether one directly causes the other. Correlation doesn’t prove causation.

    Further studies are needed to assess whether these systems influence buying habits, consumption trends, and health outcomes like weight and blood pressure. Additionally, individual dietary needs can vary, and personalized algorithms could help refine these scores for tailored recommendations.

    Despite these considerations, nutrient profiling systems are promising tools to combat rising rates of metabolic disease. Their use in Europe demonstrates their potential to shift consumer purchasing habits and inspire food companies to create healthier products.

    Americans may one day see similar front-of-package labels in the U.S. Until then, smartphone technologies can offer a practical way to help consumers make smarter choices today.

    Christopher Damman, Associate Professor of Gastroenterology, School of Medicine, University of Washington

    This article is republished from The Conversation under a Creative Commons license. Read the original article.

  • The moral dimension to America’s flawed health care system

    The moral dimension to America’s flawed health care system

    Nicole Hassoun, Binghamton University, State University of New York

    The killing of UnitedHealthcare CEO Brian Thompson has set off soul-searching among many Americans. Part of that reflection is about the public reaction to Thompson’s death and the sympathy the suspect received online, with some people critical of the insurance industry celebrating the assailant as a sort of folk hero.

    As many observers have pointed out, frustrations are no excuse for murder. But it has become a moment of wider reflection on health care in America, and why so many patients feel the system is broken.

    Philosopher Nicole Hassoun researches health care and human rights. The Conversation U.S. spoke with her about the deeper questions Americans should be asking when they discuss health care reform.

    We’re seeing an outpouring of anger about health care in the United States. Your work deals with global health inequality and access – can you help put the U.S. system in perspective?

    If we compare ourselves to other rich countries, we don’t do very well. We spend much more money – about double per patient, on average, compared with other OECD (Organization for Economic Cooperation and Development) countries – and get much less in return. In a study of 10 wealthy nations, including New Zealand, Sweden and Canada, The Commonwealth Fund – a private foundation for health care research – ranks the U.S. last overall.

    About 90% of Americans have some kind of health insurance. Still, 10% lack insurance entirely, and even some of those who are insured can’t afford the co-pays or medication costs.

    And there is a great deal of inequality in the U.S.: both disparities in access to health care and disparities in outcomes. Black infants die at a rate nearly 2.5 times higher than white babies do, for example, and diabetes rates are 30% higher among Native Americans and Latinos than white Americans. People of color tend to have lower rates of coverage as well.

    Before the Affordable Care Act, the situation was really dire. It’s likely many of us will get some terrible health condition like cancer during our lifetime, even when we’re relatively young. And what that meant before the ACA was that, if you got sick enough to lose your job – and so, your health insurance – new insurers could charge high rates because of your “preexisting condition.”

    You’ve argued there’s a universal right to health. What does that mean, and what would it look like?

    I think that people everywhere should have a legally enforced right to health – and in many countries, such as Germany and Norway, they do. In about half the world’s countries, that right is spelled out in the constitution.

    But the United States has not ratified the International Covenant on Economic, Social, and Cultural Rights, which includes a right to health. Morally, I think that the U.S. ought to have signed on to that. People should be able to live minimally good lives, and health is really important to do that. Countries should protect their citizens’ human rights, and health is fundamental to other human rights, like the right to life.

    When I say people have a right to health, I mean they have a right to the socially controllable determinants of health. This includes a clean and safe environment, health care and adequate food, water and social support. I am not saying that they have a right to be healthy, because you can’t guarantee that for anybody.

    What I mean is that society should do what it can so that everybody has health care at a reasonable cost. Good governments and their social support systems help everyone secure the health they need to contribute to society.

    The alternative is costly for everybody, not just people who are sick. Nearly half of the health problems in the U.S. stem from preventable diseases. As a wealthy country, we should have the resources to address those problems – including steps as simple as making sure people have high blood-pressure medicine, or regular primary-care visits. Everybody should be getting that kind of care, because otherwise, people certainly end up in the emergency room. Even ER visits that do not result in hospitalization cost an immense amount of money, ratcheting up the costs for everyone in the system, and often patients still don’t get the care that they need. According to a 2020 study published in The Lancet, a single-payer system could save the U.S. 13% savings in health care spending or US$450 billion each year.

    It’s a matter of how we want to be as a country. We can make health a right, but that is a decision that the American population has to make. We’re all in this together. We’re all trying to make this country work. And it’s a lot harder to do that when you’re sick.

    You mentioned an interesting phrase: the idea of the “minimally good life.”

    I just wrote a book on the minimally good life, and the main question it grapples with is this: What do we owe each other as a basic minimum? What kind of social safety net will suffice for everyone?

    I argue that respect for humanity requires people to help others live “minimally good lives” when that help does not sacrifice our own reasonably good quality of life.

    But how should we define that minimum? How should the country decide what kind of social welfare system to have? The basic idea is this: Put yourself in other people’s shoes and think, “There but for the grace of God go I.” What would I need to live a good-enough life as that person? What would I need if I were them?

    Maybe you don’t have cancer right now, or heart disease, or anything else. But someday you might. Empathy lets us think about how we can create the kind of security that will help us all flourish and live good lives.

    It’s also part of being a good-enough person. I think we live better lives when we help each other. When we think about what we want, what policies and laws we want to vote for, we have to put ourselves in others’ shoes and consider what would be good enough for all of us.

    Nicole Hassoun, Professor of Philosophy, Binghamton University, State University of New York

    This article is republished from The Conversation under a Creative Commons license. Read the original article.