Photo by Graham Colm
Blood samples
Quest Diagnostics has announced the US launch of QHerit™, a genetic screening service that helps people of multiple ethnicities identify their 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 in new screening guidelines from the American College of Gynecology (ACOG).
Among the diseases are alpha-thalassemia, Fanconi anemia, and beta-hemoglobinopathies, including sickle cell disease (SCD).
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. The guidelines also state that the partner of a woman who tests positive may be a candidate for screening.
QHerit screens women and men for clinically relevant variants of genes for disorders that could have potentially devastating consequences, result in early death, or create a need for significant early intervention.
The disorders covered by QHerit include:
| Disease | Race/ethnicity | |||
| Alpha-thalassemia | Mediterranean, Middle East, Southeast Asian, African, Chinese, Asian Indian | |||
| Beta-
hemoglobinopathies (including SCD) |
Mediterranean, Middle East, Southeast Asian, African, Chinese, Asian Indian | |||
| Bloom syndrome | Ashkenazi Jewish descent (AJ) | |||
| Canavan disease | AJ and non-AJ | |||
| Cystic fibrosis | African American, AJ, Asian American, Hispanic American, non-Hispanic Caucasian | |||
| Dihydrolipoamide
dehydrogenase deficiency |
AJ | |||
| Familial dysautonomia | AJ | |||
| Familial hyperinsulinism | AJ | |||
| Fanconi anemia Type C | AJ | |||
| Fragile X syndrome | Females | |||
| Gaucher disease | AJ | |||
| Glycogen storage
disease Type Ia |
AJ, Caucasian | |||
| Joubert syndrome 2 | AJ | |||
| Maple syrup urine
disease |
AJ | |||
| Mucolipidosis Type IV | AJ | |||
| Nemaline myopathy | AJ | |||
| Niemann-Pick
disease Types A & B |
AJ | |||
| Spinal muscular
atrophy |
African American, AJ, Asian, Caucasian, Hispanic | |||
| Tay-Sachs disease | AJ, French Canadian, general population | |||
| Usher syndrome,
Type IF |
AJ | |||
| Usher syndrome,
Type IIIA |
AJ | |||
| Walker-Warburg
syndrome |
AJ | |||
QHerit is now available for order by US physicians. For more information, visit www.QHerit.com.
