Assessing clinical education tools for expanded carrier screening
نویسندگان
چکیده
منابع مشابه
Expanded carrier screening in gamete donors of Venezuela
OBJECTIVE To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier...
متن کاملSystematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels
Professional guidelines dictate that disease severity is a key criterion for carrier screening. Expanded carrier screening, which tests for hundreds to thousands of mutations simultaneously, requires an objective, systematic means of describing a given disease's severity to build screening panels. We hypothesized that diseases with characteristics deemed to be of highest impact would likewise b...
متن کاملOutcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments
BACKGROUND Consideration of expanded carrier screening has become an emerging issue for governments. However, traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screening. Further, there is a lack of consistent guidance in the literature regarding the development of appropriate criteria for government assessment o...
متن کاملFactors for successful implementation of population-based expanded carrier screening: learning from existing initiatives
Background Carrier screening for autosomal recessive disorders aims to facilitate reproductive decision-making by identifying couples with a 1-in-4 risk in every pregnancy of having an affected child. Except for a few countries or regions, carrier screening is not widely offered and is mostly ancestry-based. Technological advances enable carrier screening for multiple diseases simultaneously al...
متن کاملCarrier screening for cystic fibrosis: costs and clinical outcomes.
OBJECTIVES To evaluate the costs and clinical effects of 16 alternative strategies for cystic fibrosis (CF) carrier screening in the reproductive setting; and to test the sensitivity of the results to assumptions about cost and detection rate, stakeholder perspective, DNA test specificity, chance of nonpaternity, and couples' reproductive plans. METHOD Cost-effectiveness analysis. RESULTS A...
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ژورنال
عنوان ژورنال: Journal of Genetic Counseling
سال: 2020
ISSN: 1059-7700,1573-3599
DOI: 10.1002/jgc4.1349