Expanded Carrier Screening May Up Detection of Genetic Disorders

This article originally appeared here.
Share this content:
Expanded Carrier Screening May Up Detection of Genetic Disorders
Expanded Carrier Screening May Up Detection of Genetic Disorders

TUESDAY, Aug. 16, 2016 (HealthDay News) -- Compared with current recommendations from professional societies, expanded carrier screening may increase the detection of carrier status for potentially serious genetic conditions, according to a study published in the Aug. 16 issue of the Journal of the American Medical Association.

Imran S. Haque, Ph.D., from Counsyl in South San Francisco, and colleagues conducted a retrospective modeling analysis of results from expanded carrier screening in reproductive-aged individuals with no known indication for specific genetic testing. Data were included for 346,790 individuals.

The researchers found that the calculated frequency of fetuses potentially affected by a profound or severe condition varied among major U.S. racial/ethnic categories, from 94.5 per 100,000 for Hispanic couples to 392.2 per 100,000 for Ashkenazi Jewish couples. Expanded carrier screening modeled more hypothetical fetuses at risk for severe or profound conditions in most racial/ethnic categories, compared with screening based on current professional guidelines. For Northern European couples, the two professional guidelines-based screening panels and expanded carrier screening modeled 55.2 and 159.2 hypothetical fetuses affected per 100,000, respectively. Guideline-based screening varied from identification of 6 to 87 percent of hypothetical fetuses affected for East-Asian and African or African-American couples, respectively, relative to expanded carrier screening.

"Prospective studies comparing current standard-of-care carrier screening with expanded carrier screening in at-risk populations are warranted before expanded screening is adopted," the authors write.

Several authors disclosed financial ties to biopharmaceutical companies, including Counsyl, a laboratory providing expanded carrier screening.

Abstract
Full Text (subscription or payment may be required)
Editorial (subscription or payment may be required)

Share this content:

is free, fast, and customized just for you!

Already a member?

Sign In Now »

Drug Lookup

Browse drugs by: BrandGenericDisease

Trending Activities

All Professions



Sign up for myCME e-newsletters


More in Home

Medicare Requiring Hospitals to Post Prices Online

Medicare Requiring Hospitals to Post Prices Online

Medicare would base part of a hospital's payments on how easy it is for patients to access medical records

Restless Brain Syndrome Tied to Changes in the Brain

Restless Brain Syndrome Tied to Changes in the ...

Morphological differences seen in the primary somatosensory system

People With Opioid Use Disorder Have High Suicide Rate

People With Opioid Use Disorder Have High Suicide ...

Based on data from multiple sources, many opioid-overdose deaths seem to be suicides

is free, fast, and customized just for you!

Already a member?

Sign In Now »