The Consequences of Sequencing Healthy People

The first randomized trial to examine whole-genome sequencing in healthy people uncovers disease-causing genetic variants, but the overall benefits to this population are ambiguous.

Written byAggie Mika
| 4 min read

Register for free to listen to this article
Listen with Speechify
0:00
4:00
Share

ISTOCK, HH5800

Physicians are increasingly using patients’ genomic data to fight cancer or diagnose unexplained symptoms. But in individuals with no discernable signs of illness, it’s uncertain whether knowing their genomic blueprints is beneficial, and whether primary care physicians are up to the challenge of managing these data for their patients. In the first study of its kind to evaluate whole genome sequencing in a randomized fashion, published today (June 26) in the Annals of Internal Medicine, researchers report that although primary care physicians are capable of contending with genomic information, its value for healthy patients remains ambiguous.

“It comes down to the question: how many individuals do you wish to scare . . . in order to find that one individual that could be helped?” writes Harvard Medical School biomedical informatics professor Isaac Kohane in an email to The Scientist. He was not involved in the study but has previously collaborated with senior author Robert Green, a geneticist and physician at Harvard Medical School and Brigham and Women’s Hospital. “My own opinion is that if you are in good health, the clinical value is low and the risk is higher than most appreciate.”

Arizona State University law ...

Interested in reading more?

Become a Member of

The Scientist Logo
Receive full access to more than 35 years of archives, as well as TS Digest, digital editions of The Scientist, feature stories, and much more!
Already a member? Login Here
Image of a woman with her hands across her stomach. She has a look of discomfort on her face. There is a blown up image of her stomach next to her and it has colorful butterflies and gut bacteria all swarming within the gut.
November 2025, Issue 1

Why Do We Feel Butterflies in the Stomach?

These fluttering sensations are the brain’s reaction to certain emotions, which can be amplified or soothed by the gut’s own “bugs".

View this Issue
Olga Anczukow and Ryan Englander discuss how transcriptome splicing affects immune system function in lung cancer.

Long-Read RNA Sequencing Reveals a Regulatory Role for Splicing in Immunotherapy Responses

Pacific Biosciences logo
Research Roundtable: The Evolving World of Spatial Biology

Research Roundtable: The Evolving World of Spatial Biology

Conceptual cartoon image of gene editing technology

Exploring the State of the Art in Gene Editing Techniques

Bio-Rad
Conceptual image of a doctor holding a brain puzzle, representing Alzheimer's disease diagnosis.

Simplifying Early Alzheimer’s Disease Diagnosis with Blood Testing

fujirebio logo

Products

Eppendorf Logo

Research on rewiring neural circuit in fruit flies wins 2025 Eppendorf & Science Prize

Evident Logo

EVIDENT's New FLUOVIEW FV5000 Redefines the Boundaries of Confocal and Multiphoton Imaging

Evident Logo

EVIDENT Launches Sixth Annual Image of the Year Contest

10x Genomics Logo

10x Genomics Launches the Next Generation of Chromium Flex to Empower Scientists to Massively Scale Single Cell Research