Quest Diagnostics Launches Genetic Test to Assess Risk for Sickle Cell Anemia, Other Inherited Disorders

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by Joana Fernandes, PhD |

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Couples who wish to know the risk of passing on a genetic disease such as sickle cell anemia to their children may now do so with QHerit, a new screening test by Quest Diagnostics.

The QHerit Pan-Ethnic Expanded Carrier Screen test covers 22 genetic diseases and was produced based on screening guidelines issued in March 2017 by the American College of Gynecology (ACOG). The test determines the likelihood of a couple passing on a heritable disorder to their children and its impact.

The test is able to predict the occurrence of diseases such as sickle cell anemia, cystic fibrosis, thalassemia, Joubert Syndrome 2, Tay-Sachs disease, and Fragile X syndrome, among others.

“It is critical that we expand our dialogue with patients who are considering pregnancy to include a discussion on expanded genetic carrier screening,” Jeff Dlott, MD, Quest Diagnostics’ medical director, said in a news release.

“Screening with QHerit allows us to follow a guidelines-recommended approach to counsel our patients on their risk of passing on heritable genetic diseases and their options in planning and the preconception,” he said.

Usually, screening tests are by people of specific ethnic backgrounds that are believed to be prone to carry an inherited disease. However, the ACOG guidelines recommend that all women considering motherhood should be screened because “… particular disorders are less likely to be confined only to a specific high-risk ethnic group because of the increasing frequency of ethnic admixture of reproductive partners. Additionally, the partner of a woman who tests positive may also be considered a candidate for screening.”

This is particularly relevant when considering that 17 percent of newly married people in 2015 chose partners from a different race or ethnicity, which shows how demographics in American society is changing.

“The United States is truly a melting pot, and it no longer makes sense for physicians to assume genetic screening is appropriate for an individual based on presumed race or ethnicity,” said Felicitas Lacbawan, MD, executive medical director of Quest Diagnostics. “QHerit is designed for any woman and her partner, not just those in a specific, so-called high-risk ethnic or racial group.”

“We carefully designed our new QHerit screening test to provide highly accurate insights about heritable risk in a wide variety of patients,” she said. “It complements our menu of innovations in women’s health, with tests that provide insights at every age and stage of a woman’s life, including when she and her partner are considering starting a family.”