When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.

ABSTRACT: This paper focuses on the question of, "When is the best time to identify an individual at risk for a treatable genetic condition?" In this review, we describe a framework for considering the optimal timing for pursuing genetic and genomic screening for treatable genetic conditions incorporating a lifespan approach. Utilizing the concept of a carousel that represents the four broad time periods when critical decisions might be made around genetic diagnoses during a person's lifetime, we describe genetic testing during the prenatal period, the newborn period, childhood, and adulthood. For each of these periods, we describe the objectives of genetic testing, the current status of screening or testing, the near-term vision for the future of genomic testing, the advantages and disadvantages of

SUBMITTER: Parisi MA 

PROVIDER: S-EPMC10475244 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature