Genetic
Counseling
The health of a family is the top priority of every individual, in
particular for parents. Genetic counseling is significant for families that
found to be at higher risk for transmission of a particular disease (Scheffer,
2011). Gene’s plays 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 Counselling 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 Counselling and Reactions of Patents. The reasons and the possible reaction of the patients have been elaborated through the case of a female which are as under.
Therefore, Genetic counseling is mandatory to protect people from genetic disorders, through screening, diagnosis, prognosis and management plan. Genetic Counselling 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 Counselling and Reactions of Patents. The reasons and the possible reaction of the patients have been elaborated through the case of a female which are as under.
Case
The patient was 34 years old females having two affected male
children’s with the age of 2 to 4 years.
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 diagnosed with neurological
issues. Multiple psychomotor retardations were also diagnosed with frequent
epileptic seizures. The patient was very anxious about the future of their
children.
Causes
of Genetic Counselling
Prevention
The genetic Counsellor 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 introduce
how particular genes transmit from ancestors to parent and plays a significant
role in the development of the normal or abnormal trait in the newborn baby.
The genetic counselor would also introduce how family history is important to
assess 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
hypothetical case has been taken to elaborate the concerned points. For
example, hypothetically, the client reported that his mother was having
incoherent speech and walking issues, but no other family member has an issue.
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.
The Genetic Counsellor recommended the screening and medical test to the
patients. Both sisters undergone the process of screening using the chromosomes
microarray in the laboratory of genetic in Barcelona, Span.
Diagnostics
After taking the family history or screening, that next step is to
make the diagnosis. The results of the hypothetical 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 not any children pass through the screening of parental
gene.
Counseling and prognosis
In the third step, the counseling will be deliver considering the
diagnosis of the patients. As in the hypothetical case, the genetic counselor
extensively elaborated the output of the screening test. According to the
Genetic Counsellor, both the sisters were having a mutation on the X
chromosomes. The patient’s boys inherited a sick X chromosomes from maternal
genes, therefore reported to be phenotypically sick.
In contrast, the children’s of the patient's sister were found to be
phenotypically healthy. The male child received a healthy X chromosome from the
maternal genes, and the female child received a sick X chromosome. The genetic
counselor further elaborated that although the girl s phynotypically normal, such
information is essential for a female to know a few important points. For
example, if her fetus is female, there are 50% chances that her offspring
female would be healthy and 50% chances of developing a baby girl with the
pathological genes. On the other hand, if the fetus is a male child I, again
there are 50% chances that the child would be healthy and 50% chances for
receiving a sick chromosome of mutated genes.
Like her mother, the 18 years old baby girl is the carrier of the
mutation, she should be aware of screening for genes during the stages of
pregnancy stages and associated complication. It is mandatory for all the
family members to be aware of all the risk and protective factors for welcoming
a new child. In your case, both your sisters have similar mutation, but diverse
expression. One is leading a healthy and
happy life; while other is, indulge in fear, anxiousness, and anxieties due to
chromosomal deficits among children. They might get their chromosomal mutation
from her mother as reported by the patient that her mother was having speech
and motor issues. One sister is spending an unhappy life, in contrast the
second one is leading a healthy or prospers life.
Reactions
of the patient and how to avoid a negative reaction
Selection of a Treatment
In the hypothetical case, the patient heard the role of genes and
showed a satisfactory response for knowledge. She also showed some concern for
her boy’s issues. The genetic counselors recommend the patient a regular
physical examination of their children and consult a doctor. The growing array
of a biological, genetic and molecular test are available in for the diagnosis
of epilepsy (Berkovic 2015). The accurate assessment of causative mutation
affects treatment as well as prognostic and genetic counseling (Berkovic
2015).
The proper medication, self-help skills, and management plan may
help the children to spend their quiet lives independently. Furthermore, the
genetic counselor educated the patient how to overcome her anxieties,
apprehensions, and fears to start a positive approach towards life as
literature suggested that the people with medical issues often encounter severe
psychological issues and develop an unhealthy living standard (Fraser 1974). A
positive approach would be beneficial for your personal as well as your
children lives.
As it was a hypothetical case, therefore the reactions of the
patients are not reliable. The patient may response negatively in a certain
situation during the counseling process. Probably the patient expresses traumatic
responses or psychological disturbance. In such circumstances, with the help of
the psychologist, the situation may control.
Effectiveness
The patient responded positively and committed to following the
management plan. The sessions of the counseling bring about positive results.
In short, the effectivity of the counseling primarily depends on the
practitioner’s skill how he gives unconditional positive regard, build rapport
and heals the apprehensions of the patients with the proper guidance.