clinical genetics

Clinical genetics is a specialty medical specialty that provides diagnosis or genetic counseling services to individuals and families with a genetically based disease or risk. Genetic disorders can affect any system in the body at any age. The purpose of medical genetics expertise is to help people affected or at risk of being affected by a genetic disorder live and reproduce as normally as possible. Additionally, large numbers of individuals with birth defects and/or learning disabilities are referred to genetics clinics to investigate genetic factors. Genetic services are also required for individuals likely to be affected by a genetic condition through childhood or pregnancy screening programmes. Genetic services may be required for those at high risk, as the genetic contributions of subsequent multifactorial diseases such as diabetes and coronary heart disease have been identified. Testing for genetic factors affecting drug prescribing is also becoming an increasingly important activity.

The medical genetics specialization differs from other medical services and specialties in that it deals with families for generations and can provide services for all types of bodily system disorders and for all age groups.

In the genetics clinic, a geneticist is assigned to the client, following his or her application. The specialist contacts the client and preferably the family to collect clinical information. The specialist provides “genetic counseling” to the client in a variety of situations, either in the hospital or at home. For most patients, another appointment with the geneticist is organized to provide examination, research, and further diagnostic procedures. A detailed summary letter is sent to the client, hospital or primary care physicians, depending on the situation. In some cases, the genetic counselor maintains long-term communication with the family. Services are provided to the extended family as needed, depending on the characteristics of the clinical situation.

Clients usually

Diagnosis and genetic aspects of a disease seen in children,

the possibility of a genetic disorder seen in the family in themselves or their children,

the risks of cancer conditions that are seen or likely to be seen in the family, related to them,

whether the disorders seen in their children are due to genetic factors,

if it is connected, whether there is a risk of recurrence,

whether their child has a genetic disease during pregnancy,

whether they are suitable for new generation drugs that can be used in cancer treatments,

the effects of their genetic heritage on situations that need attention in order to develop a healthier lifestyle.

They apply to the genetics clinic to find out.

Most clinical genetic interviews take 30 to 45 minutes. Close relatives often attend the meeting.

The clinical genetic interview mostly takes place within the framework of the following topics.

  • Examination of the real reason that brought the client to the clinic
  • Drawing a detailed family tree and indicating detailed medical histories of relatives in the family tree. (In this context, clients are advised to be informed about their relatives’ situation or to bring a knowledgeable relative)
  • Physical examination of one or more relatives
  • Taking various photos for medical records
  • Clinician to describe and discuss findings
  • The client asks what is on his mind and decides for action
  • Giving the client time to plan various tests, test results, and reflection

After the clinical interview, the clinician and the client make a plan for possible tests and new examinations and follow this plan.

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