Article

Psychosocial and Cultural Barriers and Facilitators to the Genetic Evaluation Pathway in Intellectual Disability: A Qualitative Evidence Synthesis

2026-08-07

Abstract excerpt

<title>Abstract</title> <p>Intellectual disability (ID) frequently warrants genetic evaluation, and international guidelines strongly recommend exome or genome sequencing as a first- or second-tier test in children with congenital anomalies or ID. Yet families often navigate a prolonged diagnostic pathway, and the psychosocial and cultural factors that shape actual access remain fragmented across the literature....

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 565acfe5-30a1-5bd9-afd8-d1ce4a463e40
DOI: 10.21203/rs.3.rs-10617927/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Psychosocial and Cultural Barriers and Facilitators to the Genetic Evaluation Pathway in Intellectual Disability: A Qualitative Evidence SynthesisDOI 10.21203/rs.3.rs-10617927/v1Read

Social Determinants of Health, the Diagnostic Odyssey, and Genetic Testing for Global Developmental Delay/Intellectual Disability: A Qualitative StudySemantic proximity Read

Intellectual disability and parents’ mental health within the IMAGINE cohort study – how and when does genetic diagnosis matter?Semantic proximity Read

Healthcare practitioners’ knowledge, attitudes and practices of genetics and genetic testing in low- or middle-income countries - A scoping reviewSemantic proximity Read

Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful EngagementSemantic proximity Read

“How can we help our children if no one's helping us?”: Mental health support priorities for the parents of children with rare genetic conditions and the clinicians responsible for their care – a framework analysisSemantic proximity Read

Ethical issues of involving people with intellectual disabilities in genomic research: a scoping review protocolSemantic proximity Read

Knowledge, Attitudes, and Practices of Primary Healthcare Practitioners in Low- and Middle- Income Countries: A Scoping Review on GeneticsSemantic proximity Read

Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factorsSemantic proximity Read

Strategic Development of the Genetic Counselor Profession in Germany, Austria, and Switzerland: The Establishment of the <scp>GfH</scp> Genetic Counselor CommissionSemantic proximity Read

Shape Research, Change Lives: Setting priorities in genetic syndrome researchSemantic proximity Read

Barriers and Enablers Influencing Clinical Recommendations and Referrals for Rare Tumour Risk Syndromes: A Mixed-Methods Study Across Six European CountriesSemantic proximity Read

Barriers and facilitators for population genetic screening in healthy populations: a systematic reviewSemantic proximity Read