Articles with "genomic screening" as a keyword



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Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States

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Published in 2020 at "JAMA Network Open"

DOI: 10.1001/jamanetworkopen.2020.22874

Abstract: Key Points Question Is it cost-effective to implement population-wide genomic screening for hereditary breast and ovarian cancer (HBOC)? Findings This decision analytical model study found that genomic screening for HBOC among unselected women may be… read more here.

Keywords: genomic screening; screening; screening hereditary; population wide ... See more keywords
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Do research participants share genomic screening results with family members?

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Published in 2021 at "Journal of genetic counseling"

DOI: 10.1002/jgc4.1511

Abstract: The public health impact of genomic screening can be enhanced by cascade testing. However, cascade testing depends on communication of results to family members. While the barriers and facilitators of family communication have been researched… read more here.

Keywords: genomic screening; screening; family members; screening results ... See more keywords

Experiences of adolescents and their parents after receiving adolescents' genomic screening results.

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Published in 2021 at "Journal of genetic counseling"

DOI: 10.1002/jgc4.1528

Abstract: There has been considerable debate over whether adolescents should have the opportunity to learn genetic information about adult-onset disease risk and carrier status without a clinical indication. Adolescents face increasing opportunities to learn more about… read more here.

Keywords: genomic screening; adolescents parents; receiving adolescents; experiences adolescents ... See more keywords

User testing of a previsit chatbot developed for population genomic screening and counseling

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Published in 2025 at "Journal of Genetic Counseling"

DOI: 10.1002/jgc4.70090

Abstract: Many emerging service delivery models triage genetic counselor time with patients to postgenetic testing, including population genomic screening followed by genetic counseling (GC). To prime patients and help genetic counselors tailor such visits, a previsit… read more here.

Keywords: previsit chatbot; genomic screening; user testing; population genomic ... See more keywords

Genomic Screening for Malignant Hyperthermia Susceptibility

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Published in 2020 at "Anesthesiology"

DOI: 10.1097/aln.0000000000003547

Abstract: It is timely to consider the utility and practicability of screening for malignant hyperthermia susceptibility using genomic testing. Here the authors pose a simple, but bold question: what would it take to end deaths from… read more here.

Keywords: screening malignant; malignant hyperthermia; hyperthermia; genomic screening ... See more keywords

Comparative Genomic Screening Identifies Developmental Constraint Loci Underscoring the Phenotypic Evolution of Syngnathids.

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Published in 2025 at "Integrative zoology"

DOI: 10.1111/1749-4877.13018

Abstract: Seahorses and their relatives (syngnathids) exhibit remarkable diversity in morphology and function, characterized by their distinctive body shapes and specialized feeding mechanisms. Despite recent advances in uncovering the genetic basis of some traits, the genotype-phenotype… read more here.

Keywords: evolution; comparative genomic; genomic screening; identifies developmental ... See more keywords
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Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature

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Published in 2019 at "European Journal of Neurology"

DOI: 10.1111/ene.13775

Abstract: Fabry disease is an X‐linked disease, and enzyme‐based screening methods are not suitable for female patients. read more here.

Keywords: genomic screening; screening fabry; disease young; fabry disease ... See more keywords

High-throughput chemical genomic screening: a step-by-step workflow from plate to phenotype

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Published in 2025 at "mSystems"

DOI: 10.1128/msystems.00885-25

Abstract: ABSTRACT High-throughput chemical genomics uses phenotypic profiling of strain libraries under defined chemical and environmental conditions to identify gene functions. This approach enables the mapping of biological pathways and can potentially highlight drug targets. Chemical… read more here.

Keywords: high throughput; chemical genomic; biology; genomic screening ... See more keywords
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Integrating Genomic Screening into Primary Care: Provider Experiences Caring for Latino Patients at a Community-Based Health Center

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Published in 2021 at "Journal of Primary Care & Community Health"

DOI: 10.1177/21501327211000242

Abstract: Introduction: Minority communities have had limited access to advances in genomic medicine. Mayo Clinic and Mountain Park Health Center, a Federally Qualified Health Center in Phoenix, Arizona, partnered to assess the feasibility of offering genomic… read more here.

Keywords: medicine; genomic screening; health; care ... See more keywords

Parents’ perspectives on expanded newborn genomic screening in Abu Dhabi, United Arab Emirates

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Published in 2025 at "Human Genomics"

DOI: 10.1186/s40246-025-00766-1

Abstract: Newborn genomic screening offers the potential for early detection and management of genetic disorders. Understanding parental perspectives is essential before integrating genomic testing into standard newborn screening. This was a descriptive cross-sectional study surveyed 568… read more here.

Keywords: dhabi united; genomic screening; newborn genomic; abu dhabi ... See more keywords
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Assessing the implications of positive genomic screening results

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Published in 2020 at "Personalized Medicine"

DOI: 10.2217/pme-2019-0067

Abstract: Aim: Before population screening of ‘healthy’ individuals is widely adopted, it is important to consider the harms and benefits of receiving positive results and how harms and benefits may differ by age. Subjects & methods:… read more here.

Keywords: positive results; genomic screening; implications positive; assessing implications ... See more keywords