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Genetic Counseling
Medical and genetic consultation means an examination by a geneticist and a specialized medical institution. Consultation with a geneticist necessarily begins with clarifying the diagnosis of the proband. In genetic counseling, technical methods are used: clinical and genealogical, cytogenetic, biochemical, and molecular-genetic. If necessary, doctors of other specialties are involved in the examination of the patient. Various methods of available clinical and laboratory research are often used: hormonal, radiological, immunological, etc. A genetic specialist needs to know the correct algorithm of actions in genetic counseling to avoid possible adverse reactions. The procedure of genetic counseling plays a significant role in family planning and the prevention of possible genetic diseases in children.
Genetic counseling originated in the United States about fifty years ago and has acquired many new features over the past thirty years. According to Abacan (2019), “genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease” (para 1). The main tasks of medical and genetic counseling are to establish an accurate diagnosis of hereditary pathology and prenatal diagnosis of congenital and hereditary diseases by various methods (Abacan et al., 2019).
In 2018, genetic counseling became a healthcare profession and was represented in many medical specialties, such as obstetrics, pediatrics, oncology, cardiology, and neurology (Owens et al., 2019). The development of this science is significant for the prevention of various genetic diseases.
The purpose of this paper is to consider the case of a patient who may need genetic counseling. This paper describes the reason for genetic counseling, which is based on familiarization with the patient’s medical history. There is also a discussion of the patient’s probable reaction and methods of avoiding an adverse reaction. In addition, there is a proposal regarding health issues, prevention, screening, diagnosis, and prognosis. The procedures and effectiveness of the treatment provided to the patient are discussed. This paper uses other studies and related literature to reveal this topic better.
Reason for the Genetic Counseling
Mrs. Falls is a 41-year-old woman from Virginia, USA, who presented with a Family Health History assessment (FHH) that showed that she has a high probability of having a child with Edwards syndrome. Mrs. Falls stated that there were no genetic diseases in her family. Her father died of heart failure, and her mother died of severe and neglected pneumonia. However, her cousin’s brother was born with Edwards syndrome, which caused the patient concern. Mrs. Falls had such bad habits as smoking and drinking alcohol, and she also suffered a sexual infection with damage to the reproductive organs. Mrs. Falls decided to check her suspicions for possible illnesses, and her fears were confirmed with the help of the Surgeon General’s Family History Tool.
Genetic counseling has many reasons, such as preventing a specific health condition, planning a pregnancy, or a life partner. Edwards syndrome is a severe congenital disease caused by chromosomal abnormalities. Unfortunately, this disease cannot be cured, but only its consequences can be alleviated (Hoon et al., 2018). Mrs. Falls was concerned about possible illnesses caused by a previous sexual infection and a similar case in her family.
Now she has confirmed this at a consultation, and she will be asked to share the results with her doctor during the next visit. It is necessary to provide complete information about the family’s medical history. It will help the doctor understand what screening tests the patient needs and when they should be performed (Ginsburg et al., 2019). This test can help Mrs. Falls’ doctor provide her with the utmost care and treatment. The doctor can recommend actions to reduce the likelihood of Edwards syndrome in the patient’s children with the necessary information.
Possible Reactions the Patient May Have/How to Avoid Negative Reactions
Often, people who turn to a genetic consultant experience a high level of anxiety, which should not be forgotten. Such pressure can be challenging to overcome, so it can significantly affect the patient’s emotional state. A genetic consultant should help the patient cope with strong feelings that can cause the results of a genetic examination. The primary responsibility of a genetic consultant is to facilitate independent decision-making in situations for which there may not be a positive outcome (Owens et al., 2019). The genetic consultant should be able to provide answers to all questions that arise and provide information about support groups and other resources necessary for the patient.
A practical option would be to provide Mrs. Falls with reliable websites and brochures containing information about Edwards syndrome. To avoid an adverse reaction from Mrs. Falls, the author of this paper will help her understand medical terms and facts. Also, the author of this paper will explain to the patient the essence of the diagnosis and methods of treatment or relief of the condition in detail. All this will be carried out by taking into account this patient’s ethnic, cultural, and religious characteristics.
Proposal for Discussion Points
While consulting Mrs. Falls, the author would like to make sure that the following topics are covered in connection with Edwards syndrome: health, prevention, screening, diagnosis, prognosis, choice of treatment method, and monitoring of treatment effectiveness. Edwards syndrome affects health in the following way: this disease causes partial or complete trisomy on the 18th autosome, as well as multiple malformations (Hoon et al., 2018). Edwards syndrome is characterized by the following signs: anomalies of the musculoskeletal, cardiovascular, digestive, and genitourinary systems. Children with Edwards syndrome often have cleft upper lip and palate, ptosis, exophthalmos, strabismus, and a short neck with an excessive skin fold.
Prevention of Edwards syndrome is reduced to the careful planning of the upcoming pregnancy. It is required to study the couple’s family history in detail, identify risk factors, and conduct a genetic analysis. Genetic analysis is necessary to detect defective genes in the DNA molecule. The more mutations are detected, the higher the probability of having a sick child (Hoon et al., 2018). The only diagnosis of Edwards syndrome is prenatal screening, which is offered to every woman. Prenatal diagnostics is performed at the period of 11-13th weeks of pregnancy and includes ultrasound diagnostics of the fetus and biochemical screening.
Edwards syndrome is a chromosomal disease, so it is based not on a mutation of a particular gene but a defect of the entire chromosome, that is, a whole DNA molecule, namely, an additional chromosome. Unfortunately, the exact causes of Edwards syndrome have not been established. Such a violation is provoked by parents over 40 years old, the presence of such chromosomal disorders in the family of one of the child’s parents, etc. Treatment of Edwards syndrome is impossible since the chromosomal abnormality affects all fetuses or the born child cells. Monitoring the effectiveness of treatment, as a rule, is reduced to providing symptomatic care aimed at maintaining physiological functions, prolonging life, and improving its quality.
Genetic counseling is a necessary medical procedure that can help a patient plan a family, choose a life partner and prevent possible genetic abnormalities in children. The genetic consultant has a great responsibility because it is vital to calm the patient and help him cope with negative emotions. It is necessary to collect as much information as possible about diseases in the patient’s family, as this will significantly facilitate the doctor’s task. A timely genetic examination can influence the patient’s decision regarding pregnancy and starting a family. The consultant also needs tolerance, intelligence, good manners, compassion, and high empathy skills.
References
Abacan, M., Alsubaie, L., Barlow-Stewart, K., Caanen, B., Cordier, C., Courtney, E.,… & Wicklund, C. (2019). The global state of the genetic counseling profession. European Journal of Human Genetics, 27(2), 183-197. Web.
Ginsburg, G. S., Wu, R. R., & Orlando, L. A. (2019). Family health history: underused for actionable risk assessment. The Lancet, 394(10198), 596-603. Web.
Hoon, S. K., Kang, S. W., Kwak, S. H., & Kim, J. (2018). Hypoxia due to positive pressure ventilation in Edwards’ syndrome: A case report. Journal of International Medical Research, 46(2), 895-900. Web.
Owens, D. K., Davidson, K. W., Krist, A. H., Barry, M. J., Cabana, M., Caughey, A. B.,… & US Preventive Services Task Force. (2019). Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force recommendation statement. Jama, 322(7), 652-665.
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