As genetic health care and genetic testing expand from primarily addressing conditions that are exclusively genetic in nature to common diseases with both genetic and environmental components, the scope of genetic counseling has grown. Identification and utilization of a normative model of practice defined by members of the profession is critical as genetic services become more commonplace in medical care. The purpose of this paper is to describe the results of a consensus conference convened to define a model of genetic counseling practice based on the guidance of educators and leaders in the profession. Twenty-three program directors or their representatives from 20 genetic counseling graduate programs in North America listened to presentations and participated in group discussions aimed at determining the elements of a model of practice, including tenets, goals, strategies, and behaviors for addressing patients' genetic concerns. Their discussion is summarized, training implications and research recommendations are presented, and a model of practice that extends their ideas is proposed.
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http://dx.doi.org/10.1007/s10897-007-9113-4 | DOI Listing |
Clin Kidney J
January 2025
State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, Shandong, China.
Background: Hereditary nephropathy is an important cause of renal insufficiency and end-stage renal disease. Therefore, for couples with monogenic nephropathy, preventing transmission of the disease to offspring is urgent. Preimplantation genetic testing for monogenic disorders (PGT-M) is a means to prevent intergenerational inheritance by screening and transplanting normal embryos.
View Article and Find Full Text PDFJ Genet Couns
February 2025
Research Department of Clinical, Educational and Health Psychology, University College London, London, UK.
Familial frontotemporal dementia (fFTD) is an autosomal dominant heritable form of FTD, onsetting in mid-life, characterized by behavioral and personality changes. Children of an affected parent are at 50% risk of inheriting the relevant fFTD gene variant and developing FTD. Genetic testing means a growing group of people are aware of or considering learning their risk status.
View Article and Find Full Text PDFHeart
January 2025
National Referral Center for Inherited Cardiac Diseases, Cardiology and Genetics Departments, Hôpital de la Pitié-Salpêtrière, Paris, France.
Advances in molecular genetics during the past decades led to seminal discoveries in the genetic basis of cardiovascular diseases, resulting in a new understanding of their pathogenesis, determinants of natural history and more recently paved the way for innovative therapies. A significant gap, however, exists between the rapidly increasing knowledge, especially of cardiovascular Mendelian disorders, and the medical applications in daily practice. This paper will focus on the practical issues the cardiologist may be faced with when suspecting a Mendelian disorder.
View Article and Find Full Text PDFJ Community Genet
January 2025
Medical Genetics Unit, University Hospital of Parma, Parma, Italy.
In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues.
View Article and Find Full Text PDFAm J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
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