Quest Diagnostics, the world's leading provider of diagnostic information services, has announced the launch of QHerit, a new genetic screening service that provides women and men with insight into their genetic risk of passing on heritable disorders to their offspring.

The QHerit Pan-Ethnic Expanded Carrier Screen is a panel of tests for the 22 heritable diseases cited under new screening guidelines issued in March 2017 by the American College of Gynecology (ACOG). Carrier screening provides physicians and individuals with genetic information on the likelihood and potential impact of passing on inherited genetic disorders.

"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. QHerit is designed for any woman and her partner, not just those in a specific, so-called high-risk ethnic or racial group," said Felicitas Lacbawan, MD, executive medical director, advanced diagnostics, Quest Diagnostics. "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."

Starting today, obstetricians and gynecologists, primary care physicians and other women's health specialists can order the QHerit screening test across the United States.

A screening test for all couples

Traditionally, genetic carrier screening has been used for at-risk populations based on specific ancestry assumptions, and focused on only a few likely disorders with higher prevalence associated with that ethnicity. In its new guidelines, ACOG recommends offering pan-ethnic, expanded carrier and ethnic-specific screening for all women considering pregnancy, noting that "...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."

The new ACOG guidelines recognize the changing socio-demographic factors in America. A recent Pew Research study found that 17 percent of newly married people in 2015 chose partners from a different race or ethnicity. While growth was most pronounced in African Americans, individuals who are Asian or Hispanic are the most likely to have an interracial marriage. To ensure that screening provides information that is insightful and actionable, QHerit focuses on screening patients based on ACOG guidelines. These include screening for clinically relevant variants with genes for disorders that could have potentially devastating consequences, result in early death, or create a need for significant early intervention.

Screening for disorders identified in new recommendations now available
Although disorders such as cystic fibrosis, sickle cell disease, thalassemia, and Tay-Sachs disease are relatively well-known, QHerit also identifies lesser known genetic mutations linked to other heritable conditions such as Joubert Syndrome 2 and Fragile X syndrome.

QHerit also includes screening for Spinal Muscular Atrophy (SMA), which ACOG first cited in its March 2017 guidelines as a genetic condition that should be subject to screening in all women. Prior to that, ACOG recommended SMA screening only for those with heightened risk, such as family background. About one in every 6,000 to 10,000 babies worldwide is born with the neuromuscular condition.

QHerit includes the evaluation of hemoglobinopathies per the new ACOG guidelines. QHerit includes 99 percent of variants identified through Beta-globin sequencing testing at Quest.

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

Quest Diagnostics is a leader in women's health, with a broad range of prenatal testing options and hundreds of tests, from routine screenings to highly specialized genetic tests, to support women's health at all ages. QHerit may be ordered by physicians as a component in the spectrum of testing, including pregnancy confirmatory testing, a general health screening panel, non-invasive prenatal screening, and maternal serum screening, that supports healthy pregnancies.