The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities

Hoffman, Jodi D.; Park, Jessica J.; Schreiber‐Agus, Nicole; Kornreich, Ruth; Tanner, Alice K.; Keiles, Steven; Friedman, Kenneth J.; Heim, Ruth A.

doi:10.1002/pd.4446

Cited by 21 publications

(13 citation statements)

References 13 publications

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“…All disease alleles were in Hardy-Weinberg equilibrium. We compared the carrier frequencies calculated from AJGS with those reported by the Victor Center for the Prevention of Jewish Genetic Diseases (Victor Center 2014) by Mount Sinai School of Medicine (Scott et al 2010) and by a recent study presenting literature combined carrier frequencies (Hoffman et al 2014). (Table 2) Overall, the carrier frequencies derived from the four studies are consistent.…”

Section: Carrier Frequenciessupporting

confidence: 48%

Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches

2015

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Improvements in genetic testing technologies have led to the development of expanded carrier screening panels for the Ashkenazi Jewish population; however, there are major inconsistencies in current screening practices. A 2-year pilot program was launched in Atlanta in 2010 to promote and facilitate screening for 19 Jewish genetic diseases. We analyzed data from this program, including participant demographics and outreach efforts. This retrospective analysis is based on a de-identified dataset of 724 screenees. Data were obtained through medical chart review and questionnaires and included demographic information, screening results, response to outreach efforts, and follow-up behavior and preferences. We applied descriptive analysis, chi-square tests, and logistic regression to analyze the data and compare findings with published literature. The majority of participants indicated that they were not pregnant or did not have a partner who was pregnant were affiliated with Jewish organizations and reported 100 % AJ ancestry. Overall, carrier frequency was 1 in 3.9. Friends, rabbis, and family members were the most common influencers of the decision to receive screening. People who were older, had a history of pregnancy, and had been previously screened were more likely to educate others (all p<0.05). Analysis of this 2-year program indicated that people who are ready to have children or expand their families are more likely to get screened and encourage others to be screened. The most effective outreach efforts targeted influencers who then encouraged screening in the target population. Educating influencers and increasing overall awareness were the most effective outreach strategies.

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Section: Carrier Frequenciessupporting

confidence: 48%

Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches

2015

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“…Much data on the carrier frequency were already available for many of the diseases frequent among the Ashkenazi Jews. 10,[12][13][14] For diseases that are relatively frequent in the other non-Ashkenazi communities, however, this report is the first to outline carrier frequency based on relatively large numbers of screened individuals. In the few instances where the carrier frequency was lower than expected ( Table 1), it was still more than the 1% frequency recommended for screening by the American College of Medical Genetics and Genomics.…”

Section: Discussionmentioning

confidence: 86%

The Israeli national population program of genetic carrier screening for reproductive purposes

Zlotogora¹,

Grotto

Kaliner

et al. 2016

Genetics in Medicine

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“…The pan‐ethnic carrier screening platform (Pan‐ethnic panel, Table ) was intended for general carrier screening and assessed 434 targeted, pre‐defined variants in 87 genes that cause 87 disorders. The ethnic‐specific screening platform (AJ panel, Table ) was intended for AJ carrier screening and assessed a subset of 147 variants in 18 genes that cause 18 disorders with a relatively high carrier frequency and/or known common mutations in the AJ population (Hoffman et al, ). The targeted variants have been determined to be pathogenic or likely pathogenic according to ACMG guidelines (Richards et al, ).…”

Section: Methodsmentioning

confidence: 99%

“…This expanded carrier screening is intended to be pan‐ethnic and offered to all individuals without consideration of their ethnic background or ancestry. It accommodates the issue that, for some disorders, previous assumptions about the frequency of the condition may be incorrect for a given ethnic group (Hoffman et al, ; Lazarin et al, ). This approach not only has an advantage in an ethnically diverse population, where individuals may be of mixed and/or unknown ancestry, but also provides more comprehensive genetic information to AJ individuals with or without mixed 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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The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities

Cited by 21 publications

References 13 publications

Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches

Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches

The Israeli national population program of genetic carrier screening for reproductive purposes

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

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