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

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.)

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.

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.)

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.

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.

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.)

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.

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.

How personalized gene-editing saved a baby's life

KJ Muldoon had a 50% chance of surviving a genetic mutation until doctors developed a one-of-a-kind gene-editing therapy. In an interview with one of the researchers behind the treatment, learn what it will take to make personalized genetic medicine possible for everyone.

Polygenic scores aim to predict traits based on the contributions of many genes

These novel tests for multifactorial conditions evaluate the probability of traits like elevated blood pressure, diabetes, or high cholesterol based on what researchers currently know about different gene variants and their links to various traits. The tests are predictive, not definitive, partly because environmental factors influence the expression of genes. What's more, knowledge about cumulative effects from individual genes continues to evolve. The American Society for Reproductive Medicine states that these tests are too unreliable and nascent for clinical use.

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.

Genetic engineering will change everything forever

Designer babies, the end of diseases, genetically modified humans that never age. Outrageous things that used to be science fiction are suddenly becoming reality. As scientists increasingly understand how specific genes cause disease, the possibility of engineering our genes to not only "fix" problems but enhance our natural ability grows.

A physician with a rare and deadly disease saved his own life by identifying an existing medication that he repurposed for his condition, and now he's using AI to try to do the same for other patients.

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.)

The lack of diversity in DNA databases limits their applications

European ancestry dominates genetic research, hindering the usage of genetic databases for precision medicine for other groups, including African Americans, who face higher health risks due to genetic variants. Many Indigenous communities have also resisted genetic research due to past exploitation. (Some readers may experience 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.

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.

In 2026, the FDA proposed a novel approach to expedite reviews of gene therapies for patients with rare genetic disorders such as cystic fibrosis, potentially bypassing the need for years-long clinical trials if approved.

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.

Tumor genetic profiling can lead to targeted treatments

Genetic profiling of tumors—based on a sample from the tumor, a patient's blood, or both—can help clinicians determine if targeted therapies known to block the growth of certain types of tumors would be appropriate for specific patients.

Gene therapy, a hope of the Human Genome Project, has successfully treated a baby born with a rare urea cycle disorder that causes toxic ammonia level buildup.

How epigenetics blurs the line between nature and nurture

An exploration of the study of how behaviors and environment affect the way genes work — and how that complicates the nature-versus-nurture debate.

Aurea's father came upon polygenic risk scores after reading a news article about it

Rafal Smigrodzki, a neurologist with a PhD in genetics, first heard of the polygenic risk score offering after reading about it in a 2017 MIT Technology Review feature that focused on the company they eventually used, Genomic Prediction.

How is precision medicine is transforming healthcare?

As the medical sector moves toward more personalized care, healthcare systems are using technologies such as artificial intelligence (AI) and data analytics to pave the way for precision medicine. This analysis in HealthTech Magazine looks into the...

What the heck is a polygenic risk score?

Being able to predict an individual’s risk of common conditions is regarded by many as the holy grail. So, where are we now?

The Human Genome Project met its goals, but its outcomes were overpromised.

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.

Home allergy tests don’t work well and experts urge caution

Doctors do not recommend at-home allergy test kits because their results may be inaccurate and confusing, and lead people to make lifestyle changes that are not warranted. Tests that require sending in a hair sample, for example, will not be helpful because hair does not have the relevant antibodies that blood testing would detect.

Many cancers arise from genetic mutations inherited from your parents

These mutations may happen in response to environmental or lifestyle factors, or may be passed down through family members. Genetic testing can be important in catching certain family cancers early and ensuring patients receive the right treatment for their disease.

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.

The US FDA recently tried to regulate the expanded prenatal genetic tests

The agency proposed a new rule in 2023 to make it explicit that these types of tests are devices under existing law and clarify that that the agency could move to regulate them. They finalized a regulatory change in 2024 that added the words "including when the manufacturer of these products is a laboratory" to an existing law, but a federal district court vacated that edit in March 2025—returning the law to as it was before.

The history of the gene: an interactive timeline

Humans didn’t need modern technology to figure out that kids tend to look like their parents. But what did humans believe about genetics before we knew about DNA or cells in general? Explore this interactive timeline to see how philosophers and scientists throughout the ages tried to explain how traits are passed from generation to generation.

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

Trials ongoing for a 99% accurate, AI-powered blood test

The UK's National Health Service has launched a trial for a blood test that can detect a dozen types of cancers with just ten drops of blood. An AI tool looks for genetic material known to be released by tumors, allowing for cancer detection before tumors are large enough to be imaged.

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,...

Telehealth demand for GLP-1s is on the rise as people seek it out for myriad reasons—the proportion of non-obesity and non-diabetes-related prescriptions for the drug soared from 4.5% in 2018 to 17% in 2023.

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.

The potential promises and pitfalls of AI in medicine

Artificial intelligence (AI) is increasingly being integrated into healthcare, offering the potential to aid in diagnoses, answer patient queries, and streamline administrative processes. In a recent PBS interview, Dr. Isaac Kohane, editor-in-chief of the New England Journal of Medicine AI and chair of Harvard’s department of biomedical informatics, discusses the current state and future of AI in medicine.

There are two FDA-approved blood tests that may detect early Alzheimer's disease.

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.

Pharmaceutical companies can use ChatGPT to improve drug development

Moderna has incorporated the tool into its workflows to accelerate analysis and identify optimal drug dosage from clinical data. The company's legal team also uses a custom GPT—Contract Companion—to break down and summarize contracts quickly.

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

Biohacking to boost personal health has become a concept that encompasses everything from vitamin regimens and cryochambers to brain implants and red light therapy.

Supplement sales soared during the pandemic, alongside growing distrust of the health establishment, amplifying a trend that endures—even when some of the products don't even work.

Fully sequenced human genome will help scientists better understand disease

April marks the 20-year anniversary of the completion of the Human Genome Project, a monumental achievement that provided the first map of the human genetic code and advanced our understanding of human biology, disease, and potential treatments....

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.

Genetic blood test offers an estimated clock on when Alzheimer's symptoms may appear

The 2026 research finding from researchers at Washington University School of Medicine in St. Louis—if validated in broader populations—suggests that an already available blood test could estimate when Alzheimer's symptoms may begin within a margin of several years. The test detects a protein called p-tau217 found in blood plasma and the researchers incorporated the findings from that blood test into a statistical model to come up with the symptom timeline predictions.

How two families navigated an unthinkable IVF mistake

The field offers hope to thousands of families annually, but it is also largely unregulated, and for a small number of parents, things can go terribly wrong.

Activity trackers promise to improve health by forcing us to examine the facts

Explore how modern fitness culture, rooted in capitalist ideals of productivity and control, shapes our perception of health and self-worth. The author blends cultural criticism with personal insight to examine the contradictions of the wellness industry, the rise of wearable tech, and what it means to "optimize" a body.

Doctors weigh in: Are wearable fitness devices useful or just entertainment?

In an age where technology is intertwined with our daily routines, there is an evolving relationship between healthcare professionals and the data gained from our wearable devices. This piece, published on The Verge, explores how doctors view and...