The lack of diversity in DNA databases limits their applications

Minorities are largely underrepresented in medical research, which compromises our understanding of how conditions and treatments may affect various populations, but recent efforts, like the African Ancestry Neuroscience Research Initiative and new genome research studies, are seeking to close that gap.

The lack of diversity in clinical trials is undermining the future of precision medicine

Medicine works better when the treatments are tailored to fit each individual person’s biology and history. Homogeneous patient selection in clinical trials means treatments and care are being refined based on only a small range of variables, some of which may not apply to you. This 40-minute podcast episode discusses the historical and current reasons for the lack of clinical trial diversity and what this means for the future of personalized medicine.

The Golden State killer case spotlights how genetic testing can affect your—and your relatives'—privacy

Police managed to use consumer DNA test results to close a case 32 years after a killer was believed to have committed at least 12 murders and 50 rapes. Their "smoking gun": They compared a DNA sample from the crime scene to genetic data relatives had shared on an open-source genealogy database. The suspect was caught after investigators explored family trees on this database and connected the dots from over 100 distant relatives who had some percentage of DNA that matched the killer. (Some users may encounter a paywall.)

Genetic drug matching, called pharmacogenomics, can help avoid dangerous drug reactions

Certain gene variants can affect how quickly or slowly medications are broken down in the body, affecting drug effectiveness and the risk of drugs failing. Such testing is often not covered by insurance companies though research indicates if these tests were performed for more than six drugs across the US population, avoided ailments would likely climb into the hundreds of thousands. (Some users may encounter a paywall.)

How uploading your consumer genetic testing could lead to a distant relative's arrest

This podcast includes a discussion about how law enforcement can compare DNA samples from a crime scene against voluntarily uploaded DNA on consumer genealogy databases to close cases. Investigators can and have cross-referenced a suspect's crime scene DNA with that of a suspect's relatives who happened to have chosen to upload their genetic information to an open-source genealogy database.

Advance genetic research by playing these scientific video games

Computers produce so much information that researchers can't properly analyze all the data produced, and the overload can also lead computers to make mistakes. Researchers are increasingly turning to citizen scientists—members of the public who are willing to volunteer—to help them make sense of data when computers can't. This article details a few of the ways you can contribute to genetics research by playing video games.

About 70% of the Human Genome Project's reference genome came from one donor

Volunteers who donated blood to the Human Genome Project consented to using no more than 10% of their DNA, raising questions about the project's legality. Listen to how pressure from a private competitor may have driven officials to ignore ethical standards.

Around 5 million of our 3 billion DNA letters differ between individuals

Genetic testing examines gene variants to help explain disease symptoms. It explores how genetic differences between individuals can be used to understand risks of developing diseases like Huntington's Disease or passing variants linked to disease onto offspring.

Despite privacy risks, scientists are using DNA in the air to assess ecosystem health

While DNA in soil and water samples has long been used for such analyses, airborne DNA is being incorporated into such efforts to monitor individual species abundance, detect invasive species, measure biodiversity, and determine the success of conservation actions. Future work may include detecting attacks from biological weapons.

Genetic tests aren't always actionable, which is one reason genetic counselors are so vital

This podcast interview with a Harvard Medical School professor focused on cancer genetics and prevention discusses the specifics of genetic testing and insights and the challenges of processing the outcomes of the testing and what may be actionable—or not.

Ancestry testing matches DNA to known genetic variants found in specific ancestries

After a lab receives a person's sample, the DNA is separated into single strands, which are chemically cut into smaller fragments. The fragments are then fed into an array of variants of known origins, and technicians observe if a person's fragments bind to specific variants.

The promises and perils of using at-home genetic tests for your health

A primer on genetic testing, personalized medicine, and the promise of pharmacogenomics–the use of genetics to predict an individual's response to a drug.

Why genetic similarities between humans suggest a past near-extinction event

Researchers have found that low genetic diversity among humans—even those on opposite sides of the planet—may result from a breeding population of as few as 1,280 adults, estimated to have existed 930,000 years ago. This genetic bottleneck may have resulted from a near-extinction or from a small population of human ancestors, from which we all descend, that broke off from a larger population.

Spotify and AncestryDNA launched a genetic music playlist offering

The playlist offering in 2018 purported to make a unique playlist based on cultural inheritance. The service required users to link their account, select the top five ethnic regions from their AncestryDNA results, and then Spotify would create the playlist based on that data.

Explore the original goals of the Human Genome Project

The project goals emphasized DNA sequencing technologies and methods, which would lead to future treatments of genetic disorders. Exploring the project data's ethical and social implications was also considered.

Common genetic disorders

As research continues, it's clear that disease and genetics go hand in hand. Here's a selection of 50 National Human Genome Research Institute (NHGRI) articles providing basic information on genetic, orphan, and rare diseases caused by mutations in DNA sequences, whether inherited from parents or brought about by outside factors.

All publicly available DNA sequences are available at GenBank

The National Institutes of Health's database stores comprehensive, annotated DNA sequences as part of the International Nucleotide Sequence Database Collaboration. It encourages unrestricted data access within the scientific community while allowing submitters to retain intellectual property rights over their data.

Why your dog’s DNA isn’t destiny

DNA tests tell people about their pet’s breed and attempt to predict things about its behavior and health. But for all that these tests might provide some interesting results, they need to be taken with caution. Here's a look at what we can and can't learn from our pets' DNA.

Black patients are losing their limbs at a rate triple that of other groups due in large part to inequities in diabetes care and management.

The Human Genome Project spawned numerous spinoff genetics projects

The Human Genome Project led to the development of techniques later applied to projects in microbial and plant biology, epigenomics, environmental and cancer genomes, and more. In the spirit of the HGP, data from these projects has been made freely available to develop new technologies.

How race science influences breast cancer research

Despite researchers' and physicians' pushback, race is still used in studies and clinics to categorize human differences in health conditions and treatment responses. This article explores how race has influenced breast cancer research. Considering race as a factor in cancer research, diagnosis, and treatment can lead to racial inequalities. Sociocultural factors, including food access and air pollution, greatly influence health outcomes.

Many of the new prenatal genetic tests for rare genetic conditions are inaccurate

Established screening tests for Down syndrome in utero are reliable and accurate. But a New York Times investigation into expanded prenatal genetic tests for very rare diseases—much rarer than Down syndrome—found that more than 80 percent of the positive test results turned out to be wrong based on follow-up testing. These expanded tests for rare diseases are performed from a blood draw at 10 weeks of pregnancy and aim to detect chromosomal abnormalities linked to rare diseases. Companies that offer these controversial tests counter that it's only a screening test—not a diagnosis—picking up true positives and noting that patients can and should be counseled about what the findings mean. (Some users may encounter a paywall.)

At-home genetic testing results commonly led users to healthier lifestyles

Italian research that aimed to investigate what people do longer-term after receiving direct-to-consumer genetic test results indicated that whether the results were positive or negative, people tended to adopt a healthier diet after receiving the results, and they'd still maintained it a year after receiving their results. Some users also reported an overall reduction in stress over their health concerns. (Some users may encounter a paywall.)

Researchers are exploring neural links between Alzheimer's and autism

Recent DNA sequencing and molecular biology studies suggest that similarities in genes, neural circuitry and patterns of disease warrant further exploration to potentially better understand both conditions and how to treat them. (Some users may encounter a paywall.)

Here’s how different genetic disorders get passed on

The human genome is complex, as identified by the Human Genome Project. This article digs in to genetic disorders, the most common ones, and how they are diagnosed.

Explore the current landscape for patient consent with this 1440 Original video tied to Henrietta Lacks' legacy.

All humans share 99.9% of the same DNA

Of the 3 billion base pairs that make up the human genome—the complete set of genetic material for the species—the diversity of humans is the result of variations in about 3 million molecular bases. The closest nonhuman genetic match is the chimp, with 98.8% similar genetics.

Climate determinism wrongly linked human traits and societal progress to geography

Historically rooted in Greek philosophy, its ideas used the latitudes where people were located to justify racial hierarchies, casting tropical peoples as lazy or inferior. These biases still influence how media and research portray people in climatically disadvantaged regions. (Some readers may experience a paywall.)

Like counting how often a word is repeated in a sentence, forensic scientists can identify people by tallying how often short segments of genetic information repeat in specific parts of a person's DNA—a set of numbers that varies from person to person.

The $3B project scientists called 'junk'

In 1990, scientists set out to map all of human DNA. A $3B bet many called "junk." But the Human Genome Project's radical transparency and a race with a private company sped it to completion in just 13 years. Today, that once-contested map underpins nearly every breakthrough in genetics and personalized medicine.

Black women offer a solution to racial health disparities

Black women in the US face higher rates of obesity, heart disease and more diseases. This article explores the historical and systemic racism underpinning the disparity, and the solutions Black women are creating.

Modernizing health data privacy: A call for comprehensive reform

Despite the advancements in medical technology and data collection, securing personal health data remains a pressing issue in the 21st century. This Forbes article analyzes the state of health data privacy, sheds light on the current shortcomings,...

See a timeline of landmark discoveries in the field of genetics to gain a better understanding of more than a century of advances.

Scientists can suck animal DNA from the air

A look at how researchers filtered the air around two zoos and identified genetic material from dozens of species, a technique that could help track and conserve wildlife.

A student researcher working on the Human Genome Project shares their perspective

In a conversation with Ewan Birney, Director of the European Bio-informatics Institute, he discusses what it was like to be a PhD student working on the Human Genome Project in the months before the draft announcement and its impact on him and the field of genetics.

US regulators have approved an at-home genetic test looking for BRCA gene mutations

The direct-to-consumer genetic test, approved by US regulators in 2018, examines 3 out of the more than 1,000 known breast cancer-linked genetic mutations. It looks for genetic variations that can increase risk for breast, ovarian, and other cancers. These mutations are most commonly found among Jewish people with Eastern European ancestry.

3-parent IVF removes most—but not all—faulty mitochondria

The process scoops out about 99% of the mother's mitochondrial DNA—replacing it with that of a donor woman—but because that roughly 1% is still in the system there is still a small chance of disease for the resulting child or future generations. (Some users may encounter a paywall.)

Medical experts warn that completing genetic testing for Alzheimer's can be fraught, in part because there's a shortage of genetic counselors to help navigate the findings and their potential implications.

23andMe declared bankruptcy in March 2025

The consumer genetic testing company, which offered detailed genetic profiles from users' saliva samples, suffered financially after they suffered a major data breach affecting almost 7 million customers in 2023. Its flagship product was a one-time genetic analysis which also made retention of users challenging.

Precision medicine, offering the right treatment at the right time for individuals, integrates genomics, data analytics, and AI to predict risks, personalize treatments, and improve patient outcomes.

Svante Pääbo's life work was to discover the Neanderthal in our genes

Geneticist Svante Paabo reconstructed the genome of long-extinct human relatives, showing we have more in common with Neandertals than previously thought. Read up on his research and its impact on the wider scientific community.

Silicon Valley startups Orchid, Nucleus, and Genomic Prediction are selling so-called polygenic tests for prospective parents

These tests claim to show how at-risk a hypothetical baby would be for genetic syndromes. The newfound industry has prompted ethical and medical debates, with critics questioning their accuracy and highlighting the potential problems behind pursuing the perfect baby.

Read a study about racial differences in Lyme disease diagnosis

The research published in September 2025 examined differences in Lyme disease diagnosis among Medicaid and Medicare beneficiaries using data from 2016 to 2021. It notes that though US Lyme disease surveillance data indicates more than 90% of diagnosed Lyme cases are among white people, people of color—particularly those who identify as Black or African American—have higher rates of more severe disease of Lyme, with symptoms including arthritis and neurologic impacts.

Selecting an embryo based on polygenic score is illegal in the UK, Israel, and swaths of Europe

Though their use for embryo selection is illegal in many locations, private clinics in the US may offer polygenic scores to inform embryo selection. The US Food and Drug Administration has not banned their use—instead the tests are regulated like supplements, meaning they are not regulated before they come to market but consumers can file complaints and then the agency may take action.

CRISPR can't fix faulty mitochondria

Gene editing via CRISPR could theoretically fix many issues in biology, but editing the mitochondrial genome has remained challenging. In recent years, there has been some progress reaching these cellular powerhouses. (Some users may experience a paywall.)

AI tools can reinforce existing societal biases—especially racial ones—because they are trained on human-created data containing implicit and explicit biases.

Genetic engineering has accelerated millennia of altering various crops' genes

Although farmers have long cross-bred crops to obtain plants with specific colors, sizes, and other characteristics, these processes took significant time. Today, genetic modification in agriculture involves scientists altering an organism's DNA for various purposes, including enhancing pathogen resistance, removing allergens, and delaying spoilage.

More than 100,000 scientific publications between 1953 and 2018 reported using HeLa cells—the cancerous cells nonconsensually taken from a Black woman named Henrietta Lacks in 1951.

US federal researchers are blocked from putting certain human cells in animals

In 2015, US policymakers put a halt to any government-funded work that would insert human stem cells into animals. The reasoning was that human cells might spread through the animal's body and perhaps to its brain, blurring the line between humans and nonhumans. The ban remains in place today even as gene-edited pig parts are being placed in humans.

In 2023, Native Americans had the lowest life expectancy at birth among all racial and ethnic groups

Native Americans and Alaska Natives face significant health disparities linked to chronic underinvestment in reservation health infrastructure, poverty, and multigenerational psychological harm—often called historical or inherited trauma.