Preconception care and genetic risk: ethical issues

Wert, G.M.W.R. de; Dondorp, Wybo; Knoppers, Bartha Maria

doi:10.1007/s12687-011-0074-9

Cited by 75 publications

(84 citation statements)

References 42 publications

(53 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…12,13 As with all screening programs, expansion of screening panels should also be assessed in terms of accepted criteria for responsible screening. 27 For instance, there is debate about whether expanded panels should also include lower-penetrance mutations, in which disease severity is difficult to predict and homozygotes may well remain asymptomatic. An example from current expanded ancestrybased panels in the Jewish community is type 1 Gaucher disease, which not only has a low-penetrance and variable expression but also has effective treatment available.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2015

View full text Add to dashboard Cite

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

show abstract

Section: Discussionmentioning

confidence: 99%

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

et al. 2015

View full text Add to dashboard Cite

show abstract

“…In certain communities, particularly those with a high incidence of specific severe diseases, disease prevention may be viewed as the primary goal. 3 Another potentially favorable consequence of carrier screening is enabling early perinatal diagnosis and treatment that can profoundly reduce morbidity and mortality. The preconception period is considered the optimal timing for carrier screening because only then are all aforementioned reproductive options still applicable.…”

Section: Introductionmentioning

confidence: 99%

A comprehensive strategy for exome-based preconception carrier screening

Sallevelt

Koning

Szklarczyk

et al. 2017

Genetics in Medicine

View full text Add to dashboard Cite

Purpose: Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly identify the majority of relevant pathogenic mutations. Methods:Our strategy was developed using WES data from eight consanguineous and five fictive nonconsanguineous couples and was subsequently applied to 20 other fictive nonconsanguineous couples. Presumably pathogenic variants based on frequency and database annotations or generic characteristics and mutation type were selected in genes shared by the couple and in the female's X-chromosome. Unclassified variants were not included. Results:This yielded an average of 29 (19-51) variants in genes shared by the consanguineous couples and 15 (6-30) shared by the nonconsanguineous couples. For X-linked variants, the numbers per female were 3 (1-5) and 1 (0-3), respectively. Remaining variants were verified manually. The majority were able to be quickly discarded, effectively leaving true pathogenic variants. Conclusion:We conclude that WES is applicable for PCS, both for consanguineous and nonconsanguineous couples, with the remaining number of variants being manageable in a clinical setting. The addition of gene panels for filtering was not favorable because it resulted in missing pathogenic variants. It is important to develop and continuously curate databases with pathogenic mutations to further increase the sensitivity of WES-based PCS.

show abstract

“…PCS has the advantage of allowing a larger range of reproductive choices than only prenatal diagnosis followed by a possible termination of pregnancy. 6 The emergence of new genetic technologies has given universal carrier screening a new incentive: high-throughput platforms and sequencing approaches allow for efficient screening of a large number of diseases at a faster turnaround time and lower costs. Such 'expanded carrier screening' (ECS) 2,7-9 provides information about many more disorders than recommended in current screening guidelines: panels often include more than 100 recessive diseases, most of which are rare.…”

Section: Introductionmentioning

confidence: 99%