Branching out: Specialties and subspecialties in medical genetics
Peter S. Harper in The Evolution of Medical Genetics, 2019
To begin with, medical genetics is a ‘hybrid’ discipline, which has both clinical and laboratory elements, joined more recently by genetic counsellors strongly linked to psychology and the social sciences. Clinical genetics, at least in most countries, including Britain, cannot trace its origins to a single parent medical specialty, but has roots in both adult internal medicine and in paediatrics, and to some extent other specialties. The mixture varies between countries, but in Britain the contributions of adult medicine and paediatrics have been close to equal, most of the founders coming from adult medicine, with a swing towards paediatrics in the 1970s and 1980s, and to some extent back again in more recent years. The number from obstetrics has been few throughout, despite the prominence of prenatal diagnosis.
Public health and genetics
Siân Griffiths, Davide J Hunter, Sir Kenneth Calman in New Perspectives in Public Health, 2017
The Human Genome Project (HGP) was a 13-year-long project coordinated by the USA and involving groups from other nations. The project goals included identifying all the genes in the human DNA and determining the three billion base pairs that make up human DNA. While the project was completed in 2003, the analyses of the data obtained and the full results will take many more years (Collins et al. 2003). It has already been a catalyst for a dramatic advance in our knowledge of molecular science and the development of novel genomic technologies. As a result, new applications for healthcare have become available such as genetic testing and the ability to better define diseases. It has also led to improved management and care of patients with or at high risk of certain diseases, for example familial colorectal cancer (Burke 2004; Nabel 2004; Rappuoli 2004; Vogelstein and Kinzler 2004). In the UK, clinical genetic services are based in regional centres providing services for populations of between two to six million. These centres include molecular genetics, cytogenetic and biochemical genetic laboratories. All the departments in a centre work closely together providing clinical care (Donnai and Elles 2001). As knowledge and the number of clinical applications have increased, medical genetics has now extended beyond specialist clinical genetics services into other medical specialties and primary care. This will continue in the future as human genetics becomes an integral component of the practice of medicine. Genetics has its own terminology and some key terms are presented in Box 23.1.
Basic genetics and patterns of inheritance
Hung N. Winn, Frank A. Chervenak, Roberto Romero in Clinical Maternal-Fetal Medicine Online, 2021
Genetic counseling is an important part of the practice of medical genetics. The field of genetics is unique in that a diagnosis of a genetic disorder in an individual has an impact on his or her entire family. Multiple family members and their present or future offspring may be at risk for the genetic disorder as well. Genetic counseling involves the explanation of the manifestations of the disorder, the natural history and treatment, the inheritance pattern, the risks of recurrence, and the methods of prenatal and postnatal diagnosis. The genetic counselor also helps the family make the best possible adjustment to the disorder and the risks of recurrence. This often involves referral to a support organization through which the family can make contact with other affected individuals. The vast majority of genetic counselors and clinical geneticists seek to provide nondirective counseling, whereby information about the disorder and the recurrence risk is given in an unbiased and neutral way, and the family makes decisions about reproductive options in accordance with their own beliefs and values.
Rates of diagnostic genetic testing in a tertiary ocular genetics clinic
Published in Ophthalmic Genetics, 2020
R. Scott Lowery, John R. Dehnel, G. Bradley Schaefer, Sami H. Uwaydat
Clinical genetics is a field that has evolved quite significantly since the completion of the Human Genome Project. One area that has seen substantial change is diagnostic testing. Today, tests like the APEX Array and Next Generation Sequencing (high throughput testing) exist, leading to an increase in sensitivity, specificity, and efficiency of testing (1). There have been similar improvements for gene therapy treatments. Gene therapy research in ophthalmology has led to an effective treatment for the RPE-related Leber congenital amaurosis (2,3). Further, recent animal model testing and phase I and II clinical trials are showing exciting and promising results with gene replacement for retinal structural proteins and rescue of retinal degeneration (4,5). Gene therapy outside of ophthalmology is now available as a viral vector, onasemnogene abeparvovec (Zolgensma®), for the treatment of spinal muscular atrophy (SMA) type 1. This is showing promise for curing SMA type 1 with just one treatment (6). In sum, there is increasing potential of genetic treatments to cure or improve outcomes of genetic-related diseases and disorders.
Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination
Published in Scandinavian Journal of Gastroenterology, 2018
Luise Aamann, Nikolaj Ørntoft, Ida Vogel, Henning Grønbaek, Naja Becher, Hendrik Vilstrup, Peter Ott, Dorte Launholt Lildballe
The study was registered at the National Committee on Health Research Ethics (1-10-72-134-13) and at the Danish Data Protection Agency (1-16-02-4016-13) and performed according to the declaration of Helsinki. After informed consent the patients were counseled and genetically tested by the panel. A clinical geneticist obtained a detailed medical and family history. Former episodes of cholestasis were recorded, e.g., pruritus, jaundice, symptoms during pregnancy, abnormal blood tests, etc. for both patients and relatives and validated through patient files and death certificates. The variants were classified according to ‘Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology’ [10]. All authors had access to the study data and reviewed and approved the final manuscript.
Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders
Published in Expert Review of Clinical Pharmacology, 2018
Such a wide array of specialists for each domain prompts to group together the medical needs of all patients with the various JHRDs and to identify multiple professional teams distinguished by the clinical domain (e.g. bone/orthopedic), rather than a specific disorder (e.g. bone dysplasias) of interest. Such an approach reflects the principle of parsimony of healthcare strategies for the management of rare diseases with partially overlapping clinical problems. These practically oriented teams should be orchestrated by a ‘case manager’ or a ‘case manager team’ with experience in the diagnostic assessment of JHRDs and molecular testing interpretation, as well as with skills for appropriate follow-up, prioritization of healthcare issues and pediatric-adult transition. In this scenario, the clinical geneticist is emerging, perhaps, as the best candidate for this role at bridge between molecular medicine and clinical governance.
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