Ĭlinical or medical genetics deals with the study and diagnosis of genetic diseases, oriented to the formulation of the clinical diagnosis of genetic diseases and genetic counseling to evaluate the possible reproductive risk for the patient and her family. Besides advising each patient on her own personal risk, obstetrician-gynecologists and other healthcare professionals should advise patients on the risk to family members, including their potential to have affected children. Pre-testing and post-testing counseling should be done in a clear, objective, and non-directive manner, which allows patients enough time to understand information and make informed decisions about testing and further evaluation or treatment. After counseling, patients should have the option to refuse any or all tests. As with any medical practice, expectations pertaining to the performance of genetic testing should be discussed with the patient before the test is ordered. ![]() Health practitioners should have procedures in place that ensure timely delivery of testing results to patients. Obstetrician-gynecologists and other health professionals should determine which test must be offered as the standard in their practices so that similar testing strategies are tendered to all patients. Given the increasing availability and complexity of genetic testing, it is imperative that the obstetrician-gynecologist or other health practitioner has a complete understanding of the benefits, limitations, and risks of offering specific genetic testing, and the importance of adequate pre-testing and post-testing advice. In the future, a better understanding of genetic bases of reproductive disorders, common diseases, and cancer, accompanied by improved high-throughput technology for genetic testing will expand testing opportunities and influence treatment options as well as prevention strategies. Accordingly, the obstetrician-gynecologists are expected to be aware of the progress in the understanding of genetic diseases and of the fundamental principles of molecular testing and genetic screening. Human genetics and molecular testing play an increasingly important role and are integrated into routine obstetric and gynecological practice. The genetic basis of diseases and response to therapy are rapidly clarified and may soon become part of routine medical practice. With a significant increase in human genetic knowledge in recent decades, genetics has become increasingly important in medical practice. Genetic testing genetic counseling obstetrics and gynecology breast cancer ovarian cancer endometrial cancer 1. Genetic testing is an examination that can be done on deoxyribonucleic acid (DNA) as well as on other substances using different techniques.Ĭonclusions : In doing genetic testing, one should never dwell on one single “suspect” side of the family so as not to generate inappropriate stress and guilt, and not to underestimate the risk of transmission of other (even more serious) diseases on the other hand. The decision on what to do is always autonomous to the consultants and the doctor or, a qualified professional figure has no role in it. Results : Genetic counseling helps consultants make decisions regarding the possibility of developing and/or transmitting genetic diseases, to evaluate the possible choices that can be made once genetic testing has been carried out and its result is known (possible therapies, voluntary pregnancy interruption, etc.). Methods : State-of-the-art through literature review. The geneticists here play a role in the diagnosis and prevention of some of the diseases occurring most frequently, such as cancer and cardiovascular diseases. It is oriented to the formulation of the clinical diagnosis of genetic diseases and genetic counseling to evaluate the possible reproductive risk for the patient and his/her family. ![]() ![]() This is an open access article distributed under the conditions of the Creative Commons by Attribution License, which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is correctly cited.īackground : Clinical or medical genetics deals with the study and diagnosis of genetic diseases. The Role of Genetic Counseling in Gynecological Oncology. Recommended citation: Comparetto C, Dupré F, Borruto F. ![]() Received: J| Accepted: Novem| Published: December 12, 2019 † These authors contributed equally to this work. Obstetrics and Gynecology, Consultant in Health Policy of the Government of Monaco, Principality of Monaco Department of Pathology, Princess Grace Hospital Center, Principality of Monacoģ. Obstetrician and Gynecologist, Via Castelfidardo 33, 50137 Florence, ItalyĢ. Ciro Comparetto 1, †, *, Florence Dupré 2, Franco Borruto 3, †ġ.
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