According to a recent New York Times article, Nancy Wexler devoted her life to unraveling one of medicine’s most devastating inherited diseases. For decades, she led the groundbreaking research that helped identify the gene responsible for Huntington’s disease, paving the way for the first predictive genetic test. Yet despite creating the means for at-risk individuals to learn whether they would develop the fatal neurological disorder, Wexler chose never to take the test herself.
Now 80, Wexler is living with advanced Huntington’s disease, which progressively destroys movement, speech, and cognitive function. She can no longer stand without assistance or sign her own name. Her story is the focus of her new memoir and reflects both a scientific achievement and a personal dilemma—whether it is better to know or not know an inevitable genetic fate.
Wexler’s connection to Huntington’s began when her mother was diagnosed in 1968. Because the disease is inherited in an autosomal dominant pattern, each child of an affected parent has a 50% chance of developing it. While her sister tried to distance herself from the disease, Wexler immersed herself in its study, earning a doctorate in clinical psychology and dedicating her career to understanding the disease’s scientific and emotional impact.
Will new Alzheimer’s tests also get pushback from patients?
From a clinical laboratory perspective, it is not hard to imagine patients facing similar dilemmas to Wexler’s for certain diagnoses. The progress over the past year with blood-based Alzheimer’s disease testing is a good example.
As reported by Dark Daily, in 2025, the U.S. FDA cleared the first blood test to aid in diagnosing Alzheimer's disease, the Lumipulse G pTau217/β-Amyloid 1-42 Plasma Ratio test.
More recently, also reported in Dark Daily, Abbott and ALZpath announced a licensing agreement to develop a pTau217-based in vitro diagnostic test for Abbott's widely installed Alinity platform, underscoring the IVD industry's aggressive push into the emerging Alzheimer's testing market.
At the same time, an article from Dark Daily’s sibling publication, Today’s Clinical Lab, noted that blood-based biomarkers such as pTau217, pTau181, and amyloid-beta are increasingly viewed as scalable, less invasive alternatives to PET imaging and cerebrospinal fluid testing, with the potential to expand early diagnosis, improve access to disease-modifying therapies, and eventually become part of routine laboratory workflows.
Huntington’s research changed genetic testing forever
Wexler’s most significant contribution came through more than two decades of research in Venezuela, where she led studies involving thousands of members of families with extraordinarily high rates of Huntington’s disease. That work ultimately led researchers to identify the Huntington’s gene and develop a predictive blood test that transformed genetic counseling and disease research.
Wexler decided against taking the very test her work made possible. She later wrote that she preferred “to meet the devil when he was on my doorstep” rather than live with years of certainty about an incurable disease. Her sister made the same decision, believing uncertainty was easier to live with than a positive test result.
Symptoms eventually appeared in Wexler during her early 50s, though she resisted acknowledging them for years. She was formally diagnosed in 2019 while seeking enrollment in a clinical trial, which was ultimately halted after the experimental therapy worsened patients’ conditions.
There is still no approved treatment or cure for Huntington’s disease. Looking back, neither sister regrets declining predictive testing, they told The Times. Wexler believes knowing in advance would not have changed her life, and today said that despite living with the disease, “It’s not so scary.”
This article was created with the assistance of Generative AI and has undergone editorial review before publishing.
