Genetic counselling education and training in Europe spans a continuum of 30 years. More master programs are opening due the demand for qualified genetic counselors. This report describes the evolution of training in Europe and the current state of genetic counselling training programs. Directors of master programs in Europe were invited to complete an online survey describing their program, including year of commencement, course duration, number of students and frequency of intake and number graduating. Results of the survey were presented at a closed meeting at the European Society of Human Genetics conference in 2022 along with a facilitated stakeholder engagement session in which 19 professionals participated to understand the challenges in delivering genetic counselling education in Europe. A total of 10 active programs exists in Europe with the first training program starting in 1992. The majority of training programs have a 2-year duration, with just over half of programs having an annual intake of students. Up to May 2022, 710 students have graduated from genetic counseling training programs across Europe. Of these, 670 students graduated from European Board of Medical Genetics-registered programs. Arranging clinical placements, clinical and counseling supervision of students, research collaboration for MSc research projects and incorporating genomics into the curriculum were identified as current challenges for genetic counseling education. Genetic counseling is still a developing profession in Europe and this historical and current view of the European genetic counselor pathways, allows for educational and professional standards to be examined as the profession evolves into the future.
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http://dx.doi.org/10.1038/s41431-024-01552-8 | DOI Listing |
Clin Genet
January 2025
Centro de Responsabilidade Integrado de Oftalmologia Pediátrica (CRI-OftaPed), Hospital Dona Estefânia, Unidade Saúde Local (ULS) São José, E.P.E., Lisboa, Portugal.
The Portuguese Society of Ophthalmology and the Portuguese Society of Human Genetics developed clinical practice guidelines to streamline genetic testing for inherited retinal dystrophies (IRDs), underlining the critical role of molecular diagnosis in enhancing patient care. Genetic testing is pivotal in diagnosis, genetic counselling, prognosis and access to clinical trials, and new gene-specific therapies. These guidelines recommend genetic testing in all IRD patients and provide a detailed assessment of available testing methods, ensuring that genetic counselling is integrated into ophthalmic care.
View Article and Find Full Text PDFBiosci Rep
January 2025
Tata Institute of Fundamental Research, Bangalore, India.
The tumor suppressor PALB2 is a key player in the Homologous Recombination (HR) pathway, functionally connecting BRCA proteins at the DNA damage site. PALB2 forms homodimers via its coiled-coil domain, and during HR, it forms a heterodimeric complex with BRCA1 using the same domain. However, the structural details of the human PALB2 coiled-coil domain are unknown.
View Article and Find Full Text PDFDiabetes Metab Res Rev
January 2025
Department of Human Genetics, Guru Nanak Dev University, Amritsar, India.
Aim: This review explores the increasing prevalence of Type 2 Diabetes Mellitus (T2DM) in children and adolescents, focusing on its etiology, risk factors, complications, and the importance of early detection and management. It also highlights the need for a multidisciplinary, family-centered approach in managing T2DM in pediatric populations, with an emphasis on nutrition, exercise, and lifestyle interventions.
Materials And Methods: A literature review was conducted using PubMed, Google Scholar, and Scopus to incorporate studies from 2015 to 2024 on T2DM in youths/adolescents/children, focusing on epidemiology, risk factors, and prevention strategies.
An Pediatr (Engl Ed)
December 2024
Grupo de investigación en enfermedades raras, Laboratorio de (epi)genética molecular, Instituto de Investigación Sanitaria Bioaraba, Hospital Universitario Araba, Vitoria-Gasteiz, Spain. Electronic address:
Advances in next-generation sequencing (NGS) technologies have made the detection of the molecular causes of paediatric diseases increasingly affordable, accessible and rapid. While exome sequencing and genome sequencing were until recently only available for research, they are now used in health care practice. The clinical application of NGS has raised many challenges in genetic counselling for families in terms of the interpretation of test results and incidental findings, as well as technical limitations in the event of inconclusive results.
View Article and Find Full Text PDFZhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Central Laboratory, Guangxi Key Laboratory of Metabolic Reprogramming and Intelligent Medical Engineering for Chronic Diseases, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China.
Objective: To explore the genotypes and frequency distribution of thalassemia in Lingui District, Guilin City, and provide reference for the prevention and control of thalassemia in this area.
Methods: The results of genetic testing for thalassemia in 1 501 suspected cases at the Second Affiliated Hospital of Guilin Medical University were analyzed retrospectively. The deletional mutations of α-thalassemia were detected by gap-PCR, the non-deletional mutations of α-thalassemia and β-thalassemia mutations were detected by PCR-reverse dot blot (PCR-RDB).
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