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Genetic TestingGenetic testing examines an individual's DNA to identify variations that may be linked to certain conditions or traits. Such testing requires a sample of blood, hair, skin, tissue, or amniotic fluid. The results inform care, diagnoses, and family planning.
Genetic testing can confirm a suspected diagnosis or inform prospective parents about their child's disease risks based on changes in the genes or chromosomes of their fetus. It can help determine how often people should be screened for cancer or how to attack a specific tumor. It can also detect whether someone is a carrier of an autosomal recessive condition, such as sickle cell disease. Genetic testing can even examine how a person's individual genes may influence how they process medications, a field called pharmacogenetics.
In recent years, polygenic risk scores for embryos have become a novel and controversial offering. These genetic estimates quantify the risk of developing traits determined by multiple genes—like high cholesterol or diabetes—and guide decisions about which embryo to implant during in vitro fertilization. The scores remain legal in the US, though they have been banned elsewhere, including in the UK. The first US embryo selected in this manner was born in May 2020.Explore Genetic Testing
What we've found
At-home genetic testing results commonly led users to healthier lifestylesItalian 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.) NatureThe Golden State killer case spotlights how genetic testing can affect your—and your relatives'—privacyPolice 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.) CNNHow uploading your consumer genetic testing could lead to a distant relative's arrestThis 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. FreakonomicsModern genetic testing stems from a 1950s discovery about the cause of Down syndromeScientists found that an additional copy of chromosome 21 causes the disease and developed an approach to stain chromosomes so they could be manually sorted and counted, which is called karyotyping. The breakthrough discovery by Marthe Gautier, a young French doctor and cytogenetics researcher, was appropriated by a male colleague, who listed himself as the lead author of the study reporting the finding. SpotifyWhy genetic testing for Alzheimer's risk may not be right for youMedical experts warn that completing Alzheimer's testing for late-onset versions of the disease can be fraught, in part because there's a shortage of genetic counselors to help navigate the findings and their potential implications, including for one's finances. Learning you have one or two copies of the APOE4 gene variant, which elevates Alzheimer's risk, can be panic-inducing, but an elevated risk for the disease is not the same as saying it definitely will develop. ReutersMany of the new prenatal genetic tests for rare genetic conditions are inaccurateEstablished 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.) The New York TimesTumor genetic profiling can lead to targeted treatmentsGenetic 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. Memorial Sloan Kettering Cancer CenterGenetic tests aren't always actionable, which is one reason genetic counselors are so vitalThis 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. WebMD Health Discovered23andMe declared bankruptcy in March 2025The 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. NPRGenetic drug matching, called pharmacogenomics, can help avoid dangerous drug reactionsCertain 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.) Scientific AmericanAurea's father came upon polygenic risk scores after reading a news article about itRafal 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. WHYYSelecting an embryo based on polygenic score is illegal in the UK, Israel, and swaths of EuropeThough 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. Ars TechnicaPregnancy at older ages increases the chances of fetal abnormalitiesChromosomal irregularities are more likely at older maternal ages so genetic testing for a fetus of mothers-to-be at age 35 and older is often recommended. Conditions that can be screened for in utero include cystic fibrosis, Tay-Sachs disease, sickle cell disease, Down syndrome, spina bifida, Duchenne muscular dystrophy, and more. HealthlineAround 5 million of our 3 billion DNA letters differ between individualsGenetic 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. Genomics EnglandMicrogravity can alter the evolution of viruses and bacteriaExperiments conducted on the International Space Station have shown that microgravity environments can delay viral and bacterial infections and induce mutations not seen on Earth. These mutations could have implications for long-term space missions and human health and suggest space can serve as a testing ground for developing new therapeutic approaches. Space.comWastewater testing has detected genetic evidence of polio, triggering vaccine boostersSampling of wastewater in London in 2022 detected fragments of polio virus, suggesting a vaccine-derived version of polio may be circulating. No one became ill, but the finding did trigger calls for a renewed booster inoculation campaign. MedCram - Medical Lectures Explained ClearlyAncestry testing matches DNA to known genetic variants found in specific ancestriesAfter 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. NISTBiological aging tests assess the breakdown of physiological systemsKnown as aging clocks, these tests compare various metrics, like DNA methylation patterns and protein profiles, to healthy baselines. However, the non-uniformity of these baselines across individuals limits testing accuracy and prevents their clinical use. Live ScienceSilicon Valley startups Orchid, Nucleus, and Genomic Prediction are selling so-called polygenic tests for prospective parentsThese 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. The San Francisco StandardMany cancers arise from genetic mutations inherited from your parentsThese 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. Michigan Medicine
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