Quest Diagnostics’ New Genetic Carrier Screening Test, QHerit, Includes SMA

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by Magdalena Kegel |

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Quest Diagnostics has launched a new screening test to assess the possibility that parents carry genes that might cause spinal muscular atrophy (SMA) and a range of other diseases in their future children.

The test, called QHerit, takes into account that people today often have a mixed ethnic background, and included SMA after the American College of Gynecology (ACOG) changed its screening guidelines in March 2017 to include SMA tests for all women who are — or are considering becoming — pregnant.

This was a change from earlier recommendations, where only people with a family history of SMA were encouraged to be screened. The new test has also done away with assumptions that people are of an assumed ancestry.

“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,” Felicitas Lacbawan, MD, executive medical director of advanced diagnostics at Quest Diagnostics, said in a press release.

“QHerit is designed for any woman and her partner, not just those in a specific, so-called high-risk ethnic or racial group,” Lacbawan said.

Earlier carrier screening tests were developed with people of a specific ethnicity in mind, and focused on a few diseases that are more common in people with that ancestry.

But the latest ACOG guideline recommends that people should be screened in a pan-ethnic manner, meaning that screening should be performed across all ethnicities. Screening should also be extended to the partner of a woman who wishes to become pregnant.

The changes reflect that particular disorders are increasingly less likely to be found only in specific ethnic groups as changing socio-demographic factors have made ethnically mixed ancestry much more common.

A recent study from the Pew Research Center found that 18 percent of people living together have a partner of another race or ethnicity. For newly married couples, the number is 17 percent. People with Asian or Hispanic ancestry were most likely to have a partner of a different ethnicity, while increases in mixed marriages were most obvious among African Americans.

“We carefully designed our new QHerit screening test to provide highly accurate insights about heritable risk in a wide variety of patients. 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,” Lacbawan said.

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