OBJECTIVE: To explore attitudes of clinical and molecular geneticists about the implementation of multi-disease or expanded carrier screening (ECS) for monogenic recessive disorders. DESIGN: Qualitative; semistructured interviews. SETTING: In person or via Skype. Interviews were audiorecorded and transcribed verbatim. PARTICIPANTS: European clinical and molecular geneticists with expertise in carrier screening (N = 16). METHODS: Inductive content analysis was used to identify common content categories in the data. RESULTS: Participants recognized important benefits of ECS, but they also identified major challenges, including limited benefit of ECS for most couples in the general population, lack of knowledge on carrier screening among nongenetic health care providers and the general public, potential negative implications of ECS for society, and limited economic resources. Participants favored an evidence-based approach to the implementation of population-wide ECS and were reluctant to actively offer ECS in the absence of demonstrable benefits. However, there was a consensus among the participants that ECS should be made available to couples who request the test. In addition, they believed ECS could be routinely offered to all people who use assisted reproduction. CONCLUSION: Although a limited ECS offer is practical, it also raises concerns over equality in access to screening. A comprehensive risk-benefit analysis is needed to determine the desirability of systematic population-wide ECS.
OBJECTIVE: To explore attitudes of clinical and molecular geneticists about the implementation of multi-disease or expanded carrier screening (ECS) for monogenic recessive disorders. DESIGN: Qualitative; semistructured interviews. SETTING: In person or via Skype. Interviews were audiorecorded and transcribed verbatim. PARTICIPANTS: European clinical and molecular geneticists with expertise in carrier screening (N = 16). METHODS: Inductive content analysis was used to identify common content categories in the data. RESULTS:Participants recognized important benefits of ECS, but they also identified major challenges, including limited benefit of ECS for most couples in the general population, lack of knowledge on carrier screening among nongenetic health care providers and the general public, potential negative implications of ECS for society, and limited economic resources. Participants favored an evidence-based approach to the implementation of population-wide ECS and were reluctant to actively offer ECS in the absence of demonstrable benefits. However, there was a consensus among the participants that ECS should be made available to couples who request the test. In addition, they believed ECS could be routinely offered to all people who use assisted reproduction. CONCLUSION: Although a limited ECS offer is practical, it also raises concerns over equality in access to screening. A comprehensive risk-benefit analysis is needed to determine the desirability of systematic population-wide ECS.
Authors: Lieke M van den Heuvel; Nina van den Berg; A Cecile J W Janssens; Erwin Birnie; Lidewij Henneman; Wybo J Dondorp; Mirjam Plantinga; Irene M van Langen Journal: Eur J Hum Genet Date: 2022-09-12 Impact factor: 5.351
Authors: Kim C A Holtkamp; Evelien M Vos; Tessel Rigter; Phillis Lakeman; Lidewij Henneman; Martina C Cornel Journal: BMC Health Serv Res Date: 2017-02-16 Impact factor: 2.655
Authors: J C Harper; K Aittomäki; P Borry; M C Cornel; G de Wert; W Dondorp; J Geraedts; L Gianaroli; K Ketterson; I Liebaers; K Lundin; H Mertes; M Morris; G Pennings; K Sermon; C Spits; S Soini; A P A van Montfoort; A Veiga; J R Vermeesch; S Viville; M Macek Journal: Hum Reprod Open Date: 2017-12-04
Authors: J C Harper; K Aittomäki; P Borry; M C Cornel; G de Wert; W Dondorp; J Geraedts; L Gianaroli; K Ketterson; I Liebaers; K Lundin; H Mertes; M Morris; G Pennings; K Sermon; C Spits; S Soini; A P A van Montfoort; A Veiga; J R Vermeesch; S Viville; M Macek Journal: Eur J Hum Genet Date: 2017-12-04 Impact factor: 4.246