Challenges of genomic testing for patients and clinicians in Latin America
Foundations of a qualitative multi-country study
Bibliographic Data
| ID | 23309574 |
|---|---|
| Authors | Lorraine Cowley (0000-0001-7789-5197, Newcastle upon Tyne Hospitals NHS Foundation Trust), Liliana Arias-Urueña (0000-0002-3685-7693, Newcastle University) |
| Year | 2026 |
| Volume | 406 |
| Pages | 119647 |
| Publication date | 2026-10-01 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Social Science & Medicine (JOURNAL) |
| Journal identifiers | ISSN: 0277-9536 • E-ISSN: 1873-5347 |
| Publisher | Elsevier BV (PUBLISHER) |
| DOI | 10.1016/j.socscimed.2026.119647 |
| PMID | 42537371 |
| OpenAlex | W7171620890 |
| Language | EN |
| References cited | 33 |
Genomic medicine is expanding across Latin America (LATAM), yet access to essential ancillary services such as genetic counselling remains limited. 'Latin-SEQ' is a study that provides whole exome sequencing (WES) for neuromuscular diseases across 18 countries, aiming to improve diagnostic rates and generate region-specific genetic insights. However, funding constraints exclude genetic counselling and cascade testing, raising concerns about equitable and harm-free care. This paper reports early findings from 'Latin-SEQ Plus,' a mixed-methods study exploring patient and healthcare practitioner (HCP) perspectives on WES and genetic counselling. Data were generated via surveys with patients and HCPs, and participatory workshops with HCPs across six countries. We found that patients strongly valued genetic testing for diagnostic clarity, improved care, and family planning. HCPs acknowledged the diagnostic benefits of WES but highlighted absence of local genetic counselling services, inconsistent pre and post-test practices, and uncertainty in managing incidental findings and variants of uncertain significance (VUS). Psychological impacts related to WES results are not always addressed, underscoring risks of psychological and emotional harm for patients. Access to WES and genetic counselling is limited in LATAM due to financial hardship and the absence of a clear genetic counselling infrastructure. Our findings also reveal a mismatch between patient expectations and HCPs' capacity to deliver comprehensive genomic care. We argue for urgent investment in genetic counselling infrastructure, HCP training, culturally tailored resources, and policy frameworks to support equitable implementation of genomic medicine in LATAM.
Genetic testing · Latin Americans · MEDLINE · Public health · Qualitative research · BRCA gene mutations in cancer · Ethics in Clinical Research · Genomics and Rare Diseases
| Highly cited | No |
|---|