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Safety Precautions and Operating Procedures in an ABSL-4 Laboratory: 4. Medical Imaging Procedures

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Responsible implementation of expanded carrier screening.

Lidewij Henneman¹, Pascal Borry², Davit Chokoshvili^2,3

¹Department of Clinical Genetics, Section Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

European Journal of Human Genetics : EJHG

|March 17, 2016

Summary

This summary is machine-generated.

Expanded carrier screening (ECS) offers genetic testing for multiple recessive disorders, aiding reproductive choices. Recommendations focus on responsible implementation and informed decision-making for couples and individuals.

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Area of Science:

Human Genetics
Reproductive Medicine
Genetic Counseling

Background:

Carrier screening traditionally focused on specific recessive disorders with higher carrier frequencies in certain populations.
New genetic technologies enable expanded carrier screening (ECS) for numerous conditions, irrespective of ancestry.
ECS is commercially available, targeting couples and individuals for reproductive decision-making.

Purpose of the Study:

To provide recommendations for the responsible implementation of expanded carrier screening.
To address challenges posed by ECS, drawing on lessons from traditional carrier screening.
To foster discussion and improve clinical and laboratory practice guidelines for ECS.

Main Methods:

Review of existing carrier screening practices and guidelines.
Analysis of the implications of new genetic testing technologies for carrier screening.
Discussion of ethical, social, and clinical considerations for expanded carrier screening.

Main Results:

Expanded carrier screening presents new opportunities and challenges for reproductive genetic testing.
The document outlines key considerations for the responsible use of ECS.
Recommendations aim to ensure informed reproductive decision-making and appropriate clinical integration.

Conclusions:

Responsible implementation of expanded carrier screening is crucial for maximizing benefits and minimizing risks.
Guidelines are needed to navigate the complexities of widespread genetic carrier testing.
Further discussion and refinement of practices are essential for optimal patient care and reproductive health.