Genetic Counseling

Running Head: GENETIC COUNSELING
Genetic Counseling
Name
Institutional Affiliation

GENETIC COUNSELING
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Genetic Counseling
The health of a family is the top priority of every individual, in particular, for parents
the health of their children is crucial. Genetic counseling is significant for families that found
to be at higher risk for transmission of a particular disease (Scheffer, 2011). Genes play a
significant role in the transmission of disease from parents to offspring. Therefore, Genetic
counseling is mandatory to protect people from genetic disorders, through screening,
diagnosis, prognosis and management plan. Genetic Counseling is the process of healing
people to adapt and understand the medical, psychological and family implication for the
genetic contribution to disease (Ormond, 2013). Being a genetic counselor, I would like to
consider the following sequence during the counseling of my patient. The assignment has
been divided into two sections, i.e., causes of Genetic Counseling and Reactions of patients.
The reasons and the possible reaction of the patients have been elaborated through the case of
a female which is as under.
Case
The patient was 34 years old female having two affected male children with the age of
2 to 4 years (Djordjeviş & Luković, 2017). They were having difficulty in body movement;
in particular, walking was highly affected. Their speech was also incoherent, an inability to
control physiological needs, and were diagnosed with neurological issues. Multiple psycho
motor retardation was also diagnosed with frequent epileptic seizures. The patient was very
anxious about the future of her children (Djordjeviş & Luković, 2017).
Causes of Genetic Counselling
Prevention
The genetic Counselor would plan a flexible schedule for proceeding the session for
taking history, diagnosis, prognosis and making management plan. In the initial level, the
genetic counselor would build the rapport with the client by giving her the unconditional

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positive regard. As the patient had genetic and chromosomal issues, therefore, the genetic
counselor would take the family history. The genetic counselor would also introduce how
family history is important in her case for the diagnoses of the genetic problem.
Screening & Family History
The genetic counselor would ask the client if any of his family members are having
chromosomal or genetic issues in their families or not. A case from literature has been taken
to elaborate the concerned points. For example, the patients were two sisters with no
chromosomal, medical or genetic issues. The sister of the patient was 30 years old and having
a healthy son of three years old and a baby girl of 18 months (Djordjeviş & Luković, 2017).
The Genetic Counselor recommended the screening and medical test to the patients. Both
sisters underwent the process of screening using the chromosomes micro array in the
laboratory of genetics in Barcelona, Spain (Djordjeviş & Luković, 2017).
Diagnostics
After taking the family history or screening, that next step is to make the diagnosis.
The results of the chromosome microarray testes highlighted the appearance of
microduplication of Xq28 around 550 KB long containing the MECP 2 genes. The Xq28
duplication syndrome was carried out among all subjects, but no child passed through
parental genetic screening. (Djordjeviş & Luković, 2017).
Counseling and prognosis
In the third step, the counseling will be delivered considering the diagnosis of the
patients. As in the mentioned case, the genetic counselor extensively elaborated the output of
the screening test. According to the Genetic Counselor, both the sisters were having a
mutation on the X chromosomes. The patient’s boys inherited sick X chromosomes from
maternal genes, therefore reported to be phenotypically sick (Djordjeviş & Luković, 2017).