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Medical science has reached great heights. The discovery that most of the diseases do have a genetic component has helped the development of the cure of such diseases. This finding has further led to the creation of genetic tests with clinical value for several diseases.
When done in a clinic, genetic testing involves analyzing genes in order to diagnose disorders, for instance determining the presence of muscular dystrophy. Treatment strategies for individual patients can be formulated if there is ample knowledge about specific mutations. Without such knowledge, a patient could be given treatment that might be ineffective or toxic.
Special care needs to be taken when treating a patient with a genetic disease. Genetic counselling is something that is mostly recommended when the case involves testing of minors, prenatal testing, etc. Genetic counselling is considered vital when an overall genetic testing process is being performed. The benefit of having a pre-test counselling is that the best strategy can be developed and the doctors and patients would also be aware of the expected outcomes. This also helps in providing information related to aspects of reimbursement and billing.
Like pre-test, post-test counselling also holds equal importance. This helps in the management of emotional responses to the results obtained after the test. Results might be complicated to understand, so the post-test process would also involve discussing the implications for the patient.
What Is Genetic Counselling?
Genetic diseases, as well as testing, are rapidly developing. Genetic counselling formulates a path not just for the doctor but also for the patient to navigate their roles and understanding of the outcomes in terms of treating genetic disorders. Genetic counselling is identified as a process through which the patient and his or her family who is at a risk of an inherited disease are advised of the associated risk and consequences of the disorder.
The issues related to the nature of the disease along with the chances of it being transmitted are also discussed under genetic counselling. The complex process of genetic counselling can be classified into diagnostic (that involves the actual identification and determination of the disease's risk factors) and supportive aspects.
What Is The Importance Of Genetic Counselling?
Understanding of whether one wants to be tested or not
When counselled about a genetic disease and its possible outcomes and consequences, the patient is educated a lot about it. The patient is therefore in a good way able to make decisions that are not just random but knowledge-based. When enough information about the genetic tests is obtained, a patient can decide whether to go ahead with the testing or not.
Some may also choose to postpone the knowledge of the carrier and the status of the diagnosis. Genetic counsellors are trained at providing ample information about the benefits, risks and limitations of such testing along with the inferences that can be attained through the results of these tests for the patient as well the patient's family.
Choosing the proper genetic tests
When one opts for genetic testing, there are several factors that are initially considered. Genetic counsellors are trained at providing assistance in this respect. The assistance is provided by attaining the three generation of family histories along with medical histories of the individual in detail and also reviewing previous test results to make an assessment as to which genetic testing would be most appropriate.
Emotional and professional support
When the patient gets to know about a negative genetic result or finds out that one is a carrier of a disease, it can be equally devastating quite similar to a positive test report. Genetic counsellors spend ample time in providing pre-test as well as post-test counselling sessions so that the patient and his or her family can be prepared for the results of the test and what inferences can be made from the test results.
The emotional side of being informed that a patient or his/her child has a genetic illness should also be considered during counselling. This aspect should be paid attention to when sharing medical and technical information related to the genetic tests. The counsellors are qualified enough to handle the psychological impact that a test result can have on the patient.
Information on treatment options
Genetic counselling is a must when undergoing genetic tests as it is designed to provide resources and guidance towards finding the most suitable medical management and treatment options available for the patient and his or her illness.
A patient may be directed towards attaining clinical trials for the disease that he or she is affected with. There are support networks, various unique ancillary services and advocacy groups that also aim at providing support to such patients.
Benefits Of Genetic Counselling
Mostly couples who are planning to conceive do get overwhelmed with information related to one of the couples being a carrier of a genetic illness. Genetic counselling is of utmost benefit in such scenarios.
In general, apart from the benefits of genetic counselling covered under its importance above, there are few other beneficial aspects as well.
• Increased level of understanding: Genetic screening tests can help in determining the chances of a fetus developing Down syndrome and other such diseases. Genetic counsellors can help couples understand the potential risk factors and preventive measures for it.
• Early intervention: Sometimes genetic testing can identify hidden gene mutations which can actually result in a deadly disease later on. Early diagnosis helps in attaining quick treatment.
• Attaining peace of mind: It is a great relief, especially for to-be-parents, to know that they are not a carrier of a particular genetic disorder after knowing the family history of a particular genetic disease.
• Appropriate testing: When pregnant, a genetic counsellor would help in identifying the necessary genetic tests that are required to be undergone.
• Decision-making: Once couples know the genetic disorders through appropriate tests, they are in a better position to make decisions related to family planning.
How Does A Genetic Counsellor Help?
Genetic counsellors work towards helping patients in understanding the fast-paced world of genetic diseases and the accompanying tests. Genetic counsellors are patient educators and also advocates. They also serve as a genetic testing resource to other doctors by translating the complex science of genetics into practical information so that important medical decisions can be made. These counsellors are also qualified to handle the emotional and ethical sides of genetic testing.