SPECIALIST NEUROGENETICS OUTPATIENT CLINIC
CLINICAL SERVICE
The Neurogenetics outpatient clinic and the Neurogenetics lab are the main services of the Neurogenetics Unit. At the Neurogenetics clinic, the clinical diagnostic process includes taking a comprehensive medical and family history, allowing the determination of inheritance type, performing a detailed neurological examination, carefully placing patients within phenotypic subgroups, completing an extensive diagnostic work up, if necessary, and occasionally organizing admission to an inpatient unit for further study. A close collaboration between the neurologist-geneticist and other medical professionals is often required to fully assess the patient and interpret all diagnostic tests ensuring a final diagnosis. An efficient diagnostic methodology is of the utmost importance, as it completes the differential diagnosis, avoids further unnecessary and often expensive testing, allows safer prognostic evaluation and more specific genetic counselling, and provides a portal for future targeted therapy.
An important aspect of our outpatient service, with the occasional help of other medical specialists, is the provision of therapeutic services to patients with neurogenetic disorders, whenever this is feasible.
The specialist neurogenetics outpatient clinic, beyond diagnostic testing in symptomatic individuals, also offers presymptomatic genetic testing to asymptomatic individuals at increased risk of developing neurogenetic disorders. Genetic counselling for individuals at risk is directed towards giving them the opportunity to make informed decisions regarding DNA testing, prenatal testing and long term prognosis. Before a final decision is made to test an asymptomatic individual at risk, two counselling sessions, at least two months apart, are recommended. Within this context, presymptomatic testing as performed by our Neurogenetics Unit is safe, as it is always accompanied by appropriate genetic counselling offered by experienced and specially trained health care professionals.
Additionally, our specialist outpatient clinic offers carrier testing to families harboring an autosomal recessive or X-linked genetic disorder. This process is especially significant in countries with relative genetic isolation, like Greece. Appropriate genetic counselling precedes and follows such carrier testing.
The main neurogenetic disorders seen in the outpatient clinic are Ηuntington’s disease, hereditary neuropathies (Charcot-Marie-Tooth disease and familial amyloid polyneuropathy), hereditary cerebellar ataxias (most commonly, Friedreich’s ataxia), myotonic dystrophy, Kennedy’s disease, rare genetic forms of Parkinson’s disease, as well as other rarer neurogenetic conditions. Periodic surveillance of patients with multisystem genetic conditions, such as the phakomatoses, is also offered to allow early detection of neurologic complications.
In accordance with international recommendations, our specialist outpatient clinic takes place in appropriate surroundings. We allow up to one hour for new cases and no less than half an hour for follow up appointments.
Genetic Counselling
The majority of hereditary disorders is not yet ammenable to etiological therapy. The only way to control the impact of most genetic disease is prevention. The most effective prevention is accomplished through genetic counselling of individuals at high risk of conceiving a child with a genetic disease. Tracing these individuals in countries like Greece, which lack Genetic Registry Systems, depends on the identification and diagnosis of symptomatic patients suffering from a genetic disorder, whenever they voluntarily approach the health care system.
In order to provide reliable genetic counselling three prerequisites are necessary: 1) a specific molecular diagnosis of the proband, 2) a comprehensive family tree (containing information on at least three generations), and 3) a knowledge of the pattern of inheritance.
Genetic counselling is a long and complex process. It is guided by the fundamental principle that the counsellor interprets and explains genetic data to the family, thus helping family members make informed decisions, without actually suggesting, directly or indirectly, a specific course of action. The psychological state of individuals requesting genetic counselling is an important problem and failing to recognize this is the usual cause of failed counselling. In principle, interested parties react with a series of emotional responses. Initially surprise and denial, followed by stress, anger and/or guilt, and finally depression. Such psychological aspects of genetic counselling not only underlie the complexity of the problem, but also underscore the need for psychological suppport of individuals requesting counselling and for availability of follow-up visits. Calculating recurrence risks remains an important, albeit not the most important, aspect of this complex problem. Given the above, only health care professionals with extensive knowledge and experience should provide genetic counselling.
The specialist neurogenetics outpatient clinic offers genetic counselling to symptomatic patients, as well as individuals at risk and their families. This is provided by experienced and specially trained health care professionals, taking into account the need for psychological support and further counselling sessions often required by individuals requesting genetic counselling. Genetic counselling is personal and confidential. It is provided following adequate preparation in a specially arranged room with patience and empathy. Particular care is given to ensuring the availability of adequate time to allow all potential questions to be answered.
Contact:
Responsible for information & appointments: Manesi Amalia, Financial and administrative scientist
From Mondays to Fridays, times 10:00a.m. - 14:00 p.m.
Tel 210 7289118,288
FAX 210 7289289
emails:
gkaradim@med.uoa.gr
gkoutsis@med.uoa.gr