Hormone disorders
Steve Hannigan in Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
The condition is usually conirmed after concerns have been expressed about the child’s growth pattern. Specialised testing will be needed to determine whether the individual has growth hormone deiciency, to conirm the diagnosis. Treatment of this disorder includes recombinant human growth hormone injections. The dosage is increased as the child gets bigger, and is usually assessed at approximately 17 years of age to establish whether the treatment needs to be continued into adulthood. Individuals who receive this form of treatment may notice an increase in appetite and a loss of body fat. Those who are given an early diagnosis and who show a good response to treatment are able to reach normal adult height. Genetic counselling may be of benefit to individuals affected by this disorder.
Genetic Counseling in Assisted Reproductive Technology
Carlos Simón, Carmen Rubio in Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Many health care providers, including certified genetic counselors, physicians, and nurse practitioners, provide genetic counseling throughout the course of their practice. Health care professionals providing genetic counseling should have special training in patient communications. It is not sufficient for health care professionals to be knowledgeable only about the test or procedure. Genetic information is deeply personal, and decisions related to one's genetic makeup can have far-reaching ramifications for themselves, their relatives, and their embryos. Certified genetic counselors must also work within their scope of practice with respect to their subspecialty and type of employment. Not all genetic counselors have experience in assisted reproductive technology (ART), and patients will sometimes need counseling in a different field of specialty. Appropriate referral to a genetic counselor with applicable expertise and work setting is imperative.
Ethics and Neurology
Walter J. Hendelman, Peter Humphreys, Christopher R. Skinner in The Integrated Nervous System, 2017
Several points are particularly important and are common to all genetic testing: Adult patients have a right to know whether they carry the gene. Testing must be done only on persons who are fully informed and aware of the implications of the testing (informed consent). There must be no coercion by family members or other parties for the person at risk to be tested (autonomy). Testing should not be done on minors. The results must be kept in strict confidence and not be revealed to third parties (privacy and confidentiality). However, the physician is obligated to make full disclosure of results of tests and should avoid using euphemistic terms or creating false impressions that may confuse or deceive the patient. Truth-telling is one of the most important cornerstones of a good physician–patient relationship. At the same time, the skilled physician will be sensitive to the patient’s feelings and anxieties and be ready to provide reassurance and support. Preferably, counselling services should be provided by people who have special expertise and experience in genetic counselling prior to the testing being done and the results revealed by the same counsellors.
Inherited retinal degeneration current genetics practices – a needs assessment
Published in Ophthalmic Genetics, 2020
Sydney Strait, Rebecca Loman, Lindsay Erickson, Meghan DeBenedictis
Due to advances in genetic testing technology and increased knowledge of genetic variants causative of IRDs, there will continue to be increases in diagnostic rates. However, with these advances comes uncertainty in result interpretation due to the identification of variants of uncertain clinical significance and the psychological ramifications of seemingly non-syndromic patients testing positive for a systemic disease. Diagnostic genetic test results can incite powerful feelings for the patient and other at-risk family members. Due to these uncertainties and complexities, counseling a patient on the indications and potential results should be addressed prior to and following a genetic test (9). The clinical value of a genetic test can only be maximized when the results are correctly interpreted and thoroughly discussed with the patient by a knowledgeable provider (10). With genetic testing comes a responsibility of the provider to properly interpret the results of the test and counsel the patient. Recommendations from the AAO explain that the physician should discuss the potential value of genetic testing with the patient or refer to a genetic counselor. According to a study conducted in 2015 in the UK, about 70% of optometry students, primary eye care professionals, and members of the general public felt genetic counseling would be helpful to patients with inherited eye disease (11). Genetic counseling is a vital part of a patient’s understanding of their condition, irrespective of the availability of an actual genetic test.
Genotype-phenotype associations in paragangliomas of the temporal bone in a multi-ethnic cohort
Published in Acta Oto-Laryngologica, 2023
Simon I. Angeli, Juan A. Chiossone K, Stefania Goncalves, Fred F. Telischi
Consensus is emerging regarding the surveillance of HNPGL. The minimum initial test battery for patients presenting with a GJ paraganglioma includes a comprehensive medical history including a family history of paragangliomas and related syndromes, complete physical examination including vital signs and evaluation of all cranial nerves, audiometry, anatomic imaging with CT/MRI, and PET/CT Gallium68 DOTATATE full body scintigraphy. This latter scan can confirm the diagnosis of paraganglioma and identify synchronous tumours and metastasis, while CT/MRI offers greater anatomy resolution to distinguish tumours from lymph nodes. Most GJ paragangliomas arise from parasympathetic paraganglia and do not hyper-secrete catecholamines, but initial biochemical screening with plasma or urinary metanephrines and its metabolites is recommended prior to any manipulation of the tumour (i.e. surgery, radiotherapy, and angiography), as this could result in a catecholamine storm. We recommend genetic screening as part of the initial management to all GJ patients with or without family history and, when pathogenic mutations are identified, we offer screening to first-degree relatives. Genetic counselling is offered in combination with genetic testing.
Next-generation sequencing and its application in diagnosis of retinitis pigmentosa
Published in Ophthalmic Genetics, 2019
Arash Salmaninejad, Jamshid Motaee, Mahsa Farjami, Maliheh Alimardani, Alireza Esmaeilie, Alireza Pasdar
Detection of pathogenic genes and mutations in addition to accurate diagnosis improves disease management and therapeutic trials. Genetic counselling for family members, determining their carrier and prenatal diagnosis, reduces the risk of recurrence of the disease. Determination of the disease-causing mutation may lead to phenotype-genotype correlations and better understanding of the pathophysiological mechanisms, disease pathways and development of personalized treatment (71,82). An extra significance in acquiring a molecular diagnosis lies in the latest development in gene therapy, which has stimulated various RP patients to seek to specify their mutation status with the intention of recognizing whether they are eligible for gene-specific treatment protocols (83). Additionally, special classes of mutations have been established to be responsive to treatment in some diseases, e.g., nonsense mutations, which there is a hope that RP patients with such mutations could likewise benefit from new strategies. However, this will need prior understanding of the essential genetic deficiency (84). Finally, precise molecular evidence can support exact clinical diagnosis, potentially altering treatment options, current family counselling and management.
Related Knowledge Centers
- Down Syndrome
- Eugenics
- Genetic Testing
- Heredity
- Phenylketonuria
- Medical Genetics
- Person-Centered Therapy
- Medical Test
- Sickle Cell Disease
- Tay–Sachs Disease