Clinical Genetics Has a Big Problem That's Affecting People's Lives
By Ed Yong,
The Atlantic
| 12. 17. 2015
Untitled Document
For Heidi Rehm, it looked like a straightforward case. Her lab at Partners Healthcare offers tests for genetic diseases. They had received a blood sample from a fetus after a doctor conducting an ultrasound spotted signs of Noonan syndrome—an inherited disorder involving heart problems and stunted growth. The fetus turned out to have a mutation in PTPN11, a gene that affects the risk of Noonan syndrome.
Rehm found that another team of scientists had published on that very same mutation before. (Not every mutation of PTPN11 increases the rick of Noonan syndrome.) They found that it was more common among Noonan patients than in healthy people, and had billed it as “pathogenic”—that is, likely to cause disease. Rehm reported it as such to the doctor who sent her the sample.
Sometime later, she was listening to a talk by a colleague who had found the same mutation in a patient with Noonan syndrome and, based on the same published study, had also classified it as pathogenic. But this time, the patient—an adult—had contacted the researchers behind...
Related Articles
By Margaux MacColl, The San Francisco Standard | 09.17.2025
Designer babies are coming soon to an IVF clinic near you.
Nucleus Genomics, founded by Kian Sadeghi in 2020, when he was just 20, got its start analyzing genomes to weigh a person’s risk of everything from cancer to ADHD...
By Johana Bhuiyan, The Guardian | 09.23.2025
In March 2021, a 25-year-old US citizen was traveling through Chicago’s Midway airport when they were stopped by US border patrol agents. Though charged with no crime, the 25-year-old was subjected to a cheek swab to collect their DNA, which...
By Annika Inampudi, Science | 08.01.2025
In June, Sara* received a message asking whether she wanted to continue to participate in a massive, multicenter research project led by scientists at Aarhus University in Denmark. The iPsych study, the message said, had sequenced her genetic data from...
The Center for Genetics and Society is delighted to recommend the current edition of GMWatch Review – Number 589. UK-based GMWatch, a long-standing ally, was founded in 1998 by Jonathan Matthews as an independent organization seeking to counter the enormous corporate political power and propaganda of the GMO industry and its supporters. Matthews and Claire Robinson are its directors and managing editors.
CGS works to ensure that social justice, equity, human rights, and democratic governance are front...