We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
RANDOX LABORATORIES

Download Mobile App




Prenatal Testing Offers Window for Finding Mother’s Cancer Risk

By LabMedica International staff writers
Posted on 07 Jun 2024
Print article
Image: Prenatal testing offers a window for finding a mother’s cancer risk (Photo courtesy of Shutterstock)
Image: Prenatal testing offers a window for finding a mother’s cancer risk (Photo courtesy of Shutterstock)

Harmful variants in the BRCA1 gene significantly increase an individual's lifetime risk of developing breast, ovarian, and pancreatic cancers, yet most carriers are unaware of their status. Those who inherit a BRCA1 gene variant have various options to reduce their cancer risk, including enhanced screening and surgery. Unfortunately, most individuals discover their BRCA1 carrier status only after a cancer diagnosis. Identifying the optimal timing for genetic testing is a major challenge. Pregnancy and obstetrical care present a unique opportunity for screening and identifying patients before cancer development. Now, researchers investigating the inclusion of BRCA1 testing during obstetrical prenatal carrier screening have found this approach to be cost-effective and capable of identifying at-risk individuals at a critical time when preventative strategies could be lifesaving.

In the new study, a research team that included investigators from Weill Cornell Medicine (New York City, NY, USA) simulated the clinical outcomes for a hypothetical cohort of 1,429,074 pregnant patients in the U.S. who could undergo BRCA1 testing if it were included in prenatal carrier screening. This cohort size was based on data indicating that 39% of pregnant patients receive expanded carrier screening. The model began with patients at age 33, the median age for prenatal carrier screening in the U.S., and followed them until age 80. The primary outcome measured was the cost-effectiveness of BRCA1 testing during obstetrical prenatal carrier screening. Secondary outcomes included BRCA1 mutation positivity rates, cancer cases, cancer deaths, and direct medical costs.

The study found that incorporating BRCA1 testing identified an additional 3,716 BRCA1-positive patients, prevented 1,394 breast and ovarian cancer cases, and resulted in 1,084 fewer deaths. Compared to not testing for BRCA1, adding this test during prenatal carrier screening proved to be cost-effective, with an incremental cost-effectiveness ratio of USD 86,001 per quality-adjusted life year. While the study focused solely on BRCA1, researchers believe that including other hereditary cancer genes, such as BRCA2, RAD51C, RAD51D, BRIP1, and PALB2, during prenatal carrier screening could also be cost-effective. Presently, no obstetrical prenatal carrier screening panels include BRCA1 or other hereditary breast and ovarian cancer genes. Researchers are currently in discussions with genetic testing companies to integrate these genes into their products for pregnant women or those planning to become pregnant. They aim to initiate a prospective clinical trial to demonstrate feasibility and gather perspectives from both patients and providers on this screening process.

“It is a minimal increase in cost for the genetic testing companies to add on more genes,” said Dr. Shayan Dioun, assistant professor of obstetrics and gynecology at Columbia University Irving Medical Center. “I would expect that there would be an even bigger benefit if all these genes were integrated. We would be picking up people with other mutations and potentially prevent them from developing other cancers.” The results of the research team's study were publshed in the American Journal of Obstetrics and Gynecology on April 14, 2024.

Related Links:
Weill Cornell Medicine

New
Platinum Member
Flu SARS-CoV-2 Combo Test
OSOM® Flu SARS-CoV-2 Combo Test
Magnetic Bead Separation Modules
MAG and HEATMAG
Anti-Cyclic Citrullinated Peptide Test
GPP-100 Anti-CCP Kit
New
Gold Member
All-in-one Molecular Diagnosis System
Panall 8000

Print article
77 ELEKTRONIKA

Channels

Clinical Chemistry

view channel
Image: The new DxC 500i Clinical Analyzer is an integrated clinical chemistry and immunoassay analyzer (Photo courtesy of Beckman Coulter Diagnostics)

Integrated Chemistry and Immunoassay Analyzer with Extensive Assay Menu Offers Flexibility, Scalability and Data Commutability

As global healthcare systems increasingly shift towards networked laboratory operational models to enhance efficiency and patient access, there is a greater need for innovative solutions tailored to the... Read more

Hematology

view channel
Image: The Truvian diagnostic platform combines clinical chemistry, immunoassay and hematology testing in a single run (Photo courtesy of Truvian Health)

Automated Benchtop System to Bring Blood Testing To Anyone, Anywhere

Almost all medical decisions are dependent upon laboratory test results, which are essential for disease prevention and the management of chronic illnesses. However, routine blood testing remains limited worldwide.... Read more

Microbiology

view channel
Image: The Simplexa C. auris direct kit is a real-time polymerase chain reaction assay run on the LIAISON MDX instrument (Photo courtesy of Diasorin)

Novel Molecular Test to Help Prevent and Control Multi Drug-Resistant Fungal Pathogen in Healthcare Settings

Candida auris (C. auris) is a rapidly emerging multi drug-resistant fungal pathogen that is commonly found in healthcare environments, where it presents a challenge due to its ability to asymptomatically... Read more

Pathology

view channel
Image: Color-enhanced scanning electron micrograph showing Salmonella Typhimurium (red) invading cultured human cells (Photo courtesy of Rocky Mountain Laboratories, NIAID, NIH)

AI Identifies Drug-Resistant Typhoid-Like Infection from Microscopy Images within Hours

Antimicrobial resistance is becoming a serious global health concern, making many infections increasingly difficult to treat and limiting available treatment options. This escalation in resistance raises... Read more

Industry

view channel
Image: Beckman Coulter will utilize the ALZpath pTau217 antibody to detect key biomarker for Alzheimer\'s disease on its DxI 9000 immunoassay analyzer (Photo courtesy of Beckman Coulter)

Beckman Coulter Licenses Alzpath's Proprietary P-tau 217 Antibody to Develop Alzheimer's Blood Test

Cognitive assessments have traditionally been the primary method for diagnosing Alzheimer’s disease, but this approach has its limitations as symptoms become apparent only after significant brain changes... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.