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
GLOBE SCIENTIFIC, LLC

Download Mobile App




Prenatal Testing Offers Window for Finding Mother’s Cancer Risk

By LabMedica International staff writers
Posted on 07 Jun 2024

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. More...

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
Gold Member
Latex Test
SLE-Latex Test
Serological Pipet Controller
PIPETBOY GENIUS
New
UHF RFID Tag & Inlay
AD-327 U9 ETSI Pure 95
New
Vasculitis Diagnostic Test
AESKULISA Vasculitis-Screen
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








Channels

Clinical Chemistry

view channel
Image: Ear wax could be a possible screening medium for Parkinson’s disease (Photo courtesy of 123RF)

Earwax Test Accurately Detects Parkinson’s by Identifying Odor Molecules

Current tests for Parkinson’s disease (PD) rely heavily on clinical scales and neuroimaging, which are often subjective, expensive, and ill-suited for routine screening. Since most treatments only slow... Read more

Hematology

view channel
Image: CitoCBC is the world first cartridge-based CBC to be granted CLIA Waived status by FDA (Photo courtesy of CytoChip)

Disposable Cartridge-Based Test Delivers Rapid and Accurate CBC Results

Complete Blood Count (CBC) is one of the most commonly ordered lab tests, crucial for diagnosing diseases, monitoring therapies, and conducting routine health screenings. However, more than 90% of physician... Read more

Immunology

view channel
Image: The new tool shines a light on elusive genomic patterns (Photo courtesy of Adobe Stock)

Computational Tool Exposes Hidden Cancer DNA Changes Influencing Treatment Resistance

Structural changes in tumor DNA are among the most damaging genetic alterations in cancer, yet they often go undetected, particularly when tissue samples are degraded or of low quality. These hidden genomic... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.