Expanded carrier screening for monogenic disorders: where are we now?

MSc, MA Davit Chokoshvili; Vears, Danya F.; Borry, Pascal

doi:10.1002/pd.5109

Cited by 82 publications

(96 citation statements)

References 28 publications

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“…A later committee opinion by the American College of Obstetricians and Gynecologists (ACOG) expanded the list to 14 disorders that should be considered for AJ carrier screening (Committee Opinion, ). Currently, due to technical advances in testing methodologies, expanded carrier screening is available for hundreds of disorders found in the general population (Chokoshvili, Vears, & Borry, ) and is becoming common practice (Benn et al, ; Briggs et al, ; Lazarin, Detweiler, Nazareth, & Ashkinadze, ). This expanded carrier screening is intended to be pan‐ethnic and offered to all individuals without consideration of their ethnic background or ancestry.…”

Section: Introductionmentioning

confidence: 99%

Comparison of pan‐ethnic and ethnic‐based carrier screening panels for individuals of Ashkenazi Jewish descent

Rosenblum

Zhu

Zhou

et al. 2019

Journal of Genetic Counseling

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The intent of carrier screening is to identify individuals at risk for having a child with a genetic disorder. American College of Medical Genetics and Genomics (ACMG) guidelines currently recommend that individuals of Ashkenazi Jewish (AJ) descent be screened for carrier status for nine disorders. However, a joint statement from five professional organizations acknowledges benefits of expanded carrier screening and this is becoming common practice. To better understand the impact of expanded carrier screening for the AJ population, we performed a retrospective analysis comparing detection rates for AJ individuals screened by two targeted panels: a pan‐ethnic panel comprising 87 disorders and an AJ panel comprising an 18‐disorder subset of the pan‐ethnic panel. We also extrapolated the detection rates for the 18 AJ disorders from the pan‐ethnic panel data and for the nine ACMG‐recommended disorders using data from both panels. We found that with the pan‐ethnic panel 431/1150 (37.5%) individuals were carriers of at least one disorder, compared to 319/1248 (25.6%) individuals with the AJ panel. If the pan‐ethnic panel cohort were tested in the AJ panel or for the nine ACMG‐recommended disorders, the detection rates would have been 280/1150 (24.3%) and 207/1150 (18.0%) respectively. Therefore, the pan‐ethnic expanded carrier screening panel of 87 disorders increased the carrier detection rate in AJ individuals by approximately 50% and 100%, respectively, compared with a panel of 18 disorders considered relevant to the AJ population and the ACMG‐recommended disorders. Twenty disorders accounted for the difference in carrier detection rates between the pan‐ethnic and AJ panels. Of these, three were among the 10 most commonly identified disorders. Our findings reinforce published data that targeted AJ panels are less effective than a pan‐ethnic panel in carrier detection among AJ individuals and provide metrics to address the impact of expanded carrier screening in this population.

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Section: Introductionmentioning

confidence: 99%

Comparison of pan‐ethnic and ethnic‐based carrier screening panels for individuals of Ashkenazi Jewish descent

Rosenblum

Zhu

Zhou

et al. 2019

Journal of Genetic Counseling

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“…This drop in sequencing costs is stimulating development of diagnostics for cancer or rare genetic diseases, the latter of which collectively are the biggest cause of death among children, accounting for 20% of annual infant mortality in the USA [2]. While many of these disorders are individually rare, the overall risk of having an affected offspring is one in 280, which is higher than the risk of having a child with a neural tube defect, for which screening is universal [3].…”

Section: Machine Learning and Automationmentioning

confidence: 99%

The “industrial” revolution in biomedical research

Hunter¹

2020

EMBO Reports

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“…Reproductive carrier screening (RCS) is the process of testing individuals and couples for their risk of having children with autosomal recessive and X‐linked recessive conditions . Such screening can be done prior to pregnancy or in the early stages of pregnancy.…”

Section: Introductionmentioning

confidence: 99%

International perspectives on the implementation of reproductive carrier screening

et al. 2019

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Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay‐Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X‐linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry‐based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.

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Expanded carrier screening for monogenic disorders: where are we now?

Cited by 82 publications

References 28 publications

Comparison of pan‐ethnic and ethnic‐based carrier screening panels for individuals of Ashkenazi Jewish descent

Comparison of pan‐ethnic and ethnic‐based carrier screening panels for individuals of Ashkenazi Jewish descent

The “industrial” revolution in biomedical research

International perspectives on the implementation of reproductive carrier screening

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