Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in Pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease

S Best, N Vidic, K An, F Collins, SM White - European Journal of Human …, 2022 - nature.com
Place plays a significant role in our health. As genetic/genomic services evolve and are
increasingly seen as mainstream, especially within the field of rare disease, it is important to …

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome …

G Serra, L Memo, A Coscia, M Giuffré… - Italian Journal of …, 2021 - Springer
Background Genetic diseases are chronic conditions with relevant impact on the lives of
patients and their families. In USA and Europe it is estimated a prevalence of 60 million …

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist

R Mena, E Mendoza, M Gomez Peña… - American Journal of …, 2020 - Wiley Online Library
There is a shortage of genetics providers worldwide and access is limited to large academic
centers. Telemedicine programs can facilitate access to genetic services to patients living in …

Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico

DC Pérez-Ibave, ML Garza-Rodríguez… - Genes, 2023 - mdpi.com
Hereditary cancer syndromes (HCS) are genetic diseases with an increased risk of
developing cancer. This research describes the implementation of a cancer prevention …

[HTML][HTML] Personalized medicine in ovarian cancer: a perspective from Mexico

LE Fernandez-Garza, IG Dominguez-Vigil… - World Journal of …, 2021 - ncbi.nlm.nih.gov
Ovarian cancer (OC) represents a serious health problem worldwide. In Mexico, most OC
patients are detected at late stages, consequently making OC one of the leading causes of …

The Global Status of Genetic Counseling in 2023: What's changed in the past 5 years?

KE Ormond, PJ Abad, R MacLeod, M Nishigaki… - Genetics in Medicine …, 2024 - Elsevier
Background The profession of genetic counselors has existed for over 50 years. This paper
provides an update on the global state of the genetic counseling profession in 2022-2023 …

Knowledge, attitudes, and practices of primary healthcare practitioners in low-and middle-income countries: a scoping review on genetics

S Walters, C Aldous, H Malherbe - Journal of Community Genetics, 2024 - Springer
Individualised treatment, including genetic services, calls for an increased role of primary
healthcare practitioners (pHCPs) in diagnosing and caring for individuals with genetic …

[HTML][HTML] Cancer prevention programmes in Mexico: are we doing enough?

N Padilla-Raygoza, R Monroy-Torres… - …, 2020 - ncbi.nlm.nih.gov
Cancer has increased in all the countries of the world and Mexico is no exception. The
recognised risk factors for the main types of cancer are reviewed and searched through the …

Genetic counseling education at the undergraduate level: An outreach initiative to promote professional recruitment and support workforce development

A Neogi, J Kumar, Y Guan… - Journal of Genetic …, 2020 - Wiley Online Library
As in many other countries, the field of genetic counseling is in its initial stages of
development in India, where there are efforts to streamline the profession and to implement …