Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

作者: Kim C A Holtkamp , Merel C van Maarle , Maria J E Schouten , Wybo J Dondorp , Phillis Lakeman

DOI: 10.1038/EJHG.2015.97

关键词:

摘要: Ancestry-based carrier screening in the Ashkenazi Jewish population entails for specific autosomal recessive founder mutations, which are rarer among general population. As it is now technically feasible to screen many more diseases, question arises whether this prefers a limited ancestry-based offer or pan-ethnic expanded panel that goes beyond diseases frequent their own population, and offered regardless of ancestry. An online questionnaire was completed by 145 individuals from Dutch community (≥18 years) between April July 2014. In total, 64.8% were aware existence screening, respondents generally positive about screening. About half (53.8%) preferred whereas 42.8% Reasons preferring included ‘everyone has right be tested’, ‘fear stigmatization when offering panels’, ‘difficulties with identifying risk owing mixed backgrounds’. ‘Preventing high healthcare costs’ most important reason against those favor an panel. conclusion, these findings show people have attitude regarding wide range diseases. costs panels likely drop near future, expected will receive support future.

参考文章(28)
Josef Ekstein, Howard Katzenstein, The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease. Advances in Genetics. ,vol. 44, pp. 297- 310 ,(2001) , 10.1016/S0065-2660(01)44087-9
Jodi D. Hoffman, Jessica J. Park, Nicole Schreiber-Agus, Ruth Kornreich, Alice K. Tanner, Steven Keiles, Kenneth J. Friedman, Ruth A. Heim, The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities Prenatal Diagnosis. ,vol. 34, pp. 1161- 1167 ,(2014) , 10.1002/PD.4446
Michael M. Kaback, 20. Screening and prevention in Tay-Sachs disease: Origins, update, and impact Advances in Genetics. ,vol. 44, pp. 253- 265 ,(2001) , 10.1016/S0065-2660(01)44084-3
A.-M. Laberge, C. Watts, K. Porter, W. Burke, Assessing the Potential Success of Cystic Fibrosis Carrier Screening: Lessons Learned from Tay-Sachs Disease and β-Thalassemia Public Health Genomics. ,vol. 13, pp. 310- 319 ,(2010) , 10.1159/000253122
Ayala Frumkin, Aviad E. Raz, Morasha Plesser-Duvdevani, Sari Lieberman, "The Most Important Test You'll Ever Take"?: attitudes toward confidential carrier matching and open individual testing among modern-religious Jews in Israel. Social Science & Medicine. ,vol. 73, pp. 1741- 1747 ,(2011) , 10.1016/J.SOCSCIMED.2011.09.031
Kristine Barlow-Stewart, Leslie Burnett, Anné Proos, Viive Howell, Ferdous Huq, R Lazarus, Harry Aizenberg, A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students Journal of Medical Genetics. ,vol. 40, ,(2003) , 10.1136/JMG.40.4.E45
Wayne W. Grody, Barry H. Thompson, Anthony R. Gregg, Lora H. Bean, Kristin G. Monaghan, Adele Schneider, Roger V. Lebo, ACMG position statement on prenatal/preconception expanded carrier screening Genetics in Medicine. ,vol. 15, pp. 482- 483 ,(2013) , 10.1038/GIM.2013.47
Alexandra A Gason, Sylvia A Metcalfe, Martin B Delatycki, Vicki Petrou, Edith Sheffield, Agnes Bankier, MaryAnne Aitken, Tay Sachs disease carrier screening in schools: Educational alternatives and cheekbrush sampling Genetics in Medicine. ,vol. 7, pp. 626- 632 ,(2005) , 10.1097/01.GIM.0000187162.28070.A7
L Ioannou, J Massie, S Lewis, V Petrou, A Gason, S Metcalfe, MA Aitken, A Bankier, MB Delatycki, Evaluation of a multi‐disease carrier screening programme in Ashkenazi Jewish high schools Clinical Genetics. ,vol. 78, pp. 21- 31 ,(2010) , 10.1111/J.1399-0004.2010.01459.X