Genetics Consultation evaluates an individual or a family for four major objectives. First, the process can be done to confirm, diagnose or rule out a genetic condition. Second, it can determine issues on medical management. Third, it is used to appraise and communicate the genetic risks. Fourth, it can be a basis to provide or arrange for psychosocial support.
The legitimate parties to perform the Genetic consultation are genetics professionals including the geneticists, genetic counselors, and genetic nurses. These individuals are health care professionals having completed specialized degrees, and acquired solid experience in medical genetics and counseling.
These genetic professionals are involved with other members of the health care teams that provide information and support to individuals and family who have genetic illnesses or are at risks of inheriting certain condition.
To start with the consultation, the genetic care providers will do visits or phone calls to the concerning individual. The visits can take place individually or by group in a clinic, hospital or genetic centers.
Before a consultation is completed, both the professional performing the consultation and the concerning individual will go through four phases, which are the Assessment, Evaluation, Communication, Support, and Follow up.
In Assessment, the geneticist or genetic counselor will gather substantial and relevant information.
This can be summed up in 8 ways. First, the genetics professional will probe on the patient and family with regards to the reason for having the consultation, perception of illness burden, perception of status and or risk of an illness, diagnoses, and beliefs about the cause of an illness.
Second, the medical record of an individual and the family will be gathered including the birth history, and past medical history and the current medical condition or status.
Third, to acquire or produce a family pedigree of three degrees, ascertain the status of current pregnancies if applicable, ethnic background, and the presence of any consanguinity.
Fourth, procure, analyze and evaluate additional medical records such as diagnostic testing done on the concerning individuals and immediate family.
Fifth, evaluate the family history in the aspect of education, employment and social functioning.
Sixth, estimate the sources of the family when it comes to psychosocial support including the religion and community.
Seventh, determine the possible ethical issues as regard confidentiality, insurability, non-paternity and discrimination.
Finally, initiate physical examination of the concerning individual and family members.
After the completion of the Assessment, the Evaluation of the information obtained proceeds. As the second phase of Genetic Consultation, the process includes the interpretation of medical family history, and the results of physical examination and other tests.
To some point, the genetics professional may consult other relevant references, or make a comparison of the individual's history and examination to some diagnoses. If there is diagnostic necessary, it shall be discussed in three points.
One, the Clear diagnosis will allow the genetics professionals to share information about the illness. Two, the Differential diagnosis will allow the genetics professional to suggest further testing and evaluation. Three, the Unknown diagnosis discusses the rule out known diagnosis and make follow up over time.
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