Premium Essay

Genetic Counseling

In: Science

Submitted By enriqueprimas
Words 476
Pages 2
Tay-Sachs Disease

Progressively ruins nerve cells (neurons) in the brain and spinal cord Tay-Sachs disease is a rare inherited disorder. A baby is born without one of this essential enzymes, hexosaminidase with Tay-Sachs A (HEXA) and so, fatty proteins build up in the brain, they hurt the baby's hearing, movement, sight and mental development. A child can only get Tay-Sachs by inheriting gene for it from both parents. Tay-Sachs can be detected before birth, then couples who are thought of having children should get a blood test to find out whether their child would be likely to have it. An obstetrician/gynecologist may cite the couple to a genetic counselor for more data.

The people who are at risk the most for Tay-Sachs Disease are people of Ashkenazi Jewish heritage of eastern and central European descent are most at risk, people of French-Canadian/Cajun heritage and Irish heritage have also been found to have the Tay-Sachs gene. If people carry the genetic mutation that causes Tay-Sachs, but do not develop the full-blown disease.
If both parents are carriers of the gene a child can only have Tay-Sachs disease. When two carriers have a child together, Out of a 100% their 50% chance that the child will carry the disease and don’t have it 25% chance will not carry or have the disease 25% that the child will have Tay-Sachs

To add to classic Tay-Sachs, there are other forms of Hexosaminidase a deficiency that are sometimes mentioned to as forms of Tay-Sachs. Juvenile Hexosaminidase A deficiency start with difficulty walking (ataxia) and incoordination in early childhood. Symptoms are related to those of classic Tay-Sachs although the cherry-red spot is not as common. Age of death is usually in teenage years, normally from infections, although few will die much sooner. Chronic Hexosaminidase A deficiency regularly begins...

Similar Documents

Premium Essay

Genetic Counseling Synthesis Paper

...Hi Krisherm, Thank you for well-explained post on genetic counseling. With the question you have raised for us on genetic counseling, it has given me the chance to research and learn about genetic education and the implications to our physical therapy profession. Krisherm, I apologized in advance for my different take on genetic counseling, which discusses not so much on prenatal screens but more so on human genetics. I realized that I was researching more on generalized screening per se. To answer your question: [What are your thoughts on genetic counseling? Should we impart our professional beliefs and personal values when our patients ask us regarding this subject?] The advances of human genetics can pose affirmation of therapeutic benefits in the fields of medicine. Goldberg (2005) contended The Human Genome Project [HGP] flourished in 1995 was initiated with goals of sequencing and mapping of human genome by year 2005. It proceeded to let patients (suffering from genetic condition like cancer), set hope of being able to identify the genes that predisposes to tumor formation. One such example is the BRCA1 influencing susceptibility to breast and ovarian...

Words: 583 - Pages: 3

Premium Essay

Genetic Counseling in Nursing and Ethics

...GENETIC COUNSELING IN NURSING AND ETHICS Hyang Ko Azusa Pacific University Abstract The current development of genetic information and technique leaves us assignments. It is included ethical issues, roles of nurses, and the responsibilities in healthcare professionals. In order to understand nurses’ role and responsibilities and to provide genetic counseling, two research article with text books were reviewed. There were conflicts within ethical principles and nurses’ obligation. Each principle is important but one principle is superior to others when healthcare professionals make a decision in a certain context. It is necessary that genetic counseling is provided to patients and their family when healthcare professionals deal with genetic information. The two research articles empathized that experienced nurses are excellent candidates in genetic counseling within healthcare professionals by being educated, trained about genetic information. Genetic Counseling in Nursing and Ethics Definitions of Genetics and Genetic Counseling Officially, the terms of Genetics and genetic counseling is defined by Wekipidia as below: Genetics, a discipline of biology, is the science of genes, heredity, and variation in living organisms ( Genetic counseling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or......

Words: 2137 - Pages: 9

Premium Essay

Gnt1, Genetic Counseling

...GNT1, Contemporary Nursing Issues, Task 1 Mrs. Elli Baker is a 73-year-old female who is transferred to the emergency room after collapsing in her backyard. Just prior to this, while talking to her friend on the phone, she seemed confused and beside herself. Upon arrival to the ER, she complains of some dyspnea with an increase in her respiratory rate and pulse. Her previous history includes diabetes and hypertension. She has recently started a new blood pressure medication: lisinopril. Her other medications include metformin and hydrochlorothiazide. The nurse is able to ask Mrs. Baker a few questions, but she then becomes unresponsive and has more difficult time breathing. As Mrs. Baker’s nurse, I would initiate a code immediately by dialing the operator using the phone in the patient’s room. The operator, in turn, calls a code over the hospital intercom system; thus, obtaining the assistance of several other staff members such as a respiratory therapist, the nursing supervisor, and an ICU (Intensive Care Unit) nurse. The respiratory therapist is expert in the field of lung function and responds to any codes or traumas within the hospital. The respiratory therapist participates in intubation of a patient, manages the bag/valve mask system for managing respirations in an intubated patient, performs tests such as ABG, and manages ventilation equipment when necessary. The Nursing Supervisor makes herself available to all nursing staff for support, acts as a......

Words: 2364 - Pages: 10

Premium Essay

Genetic Counseling Case Study

...Imagine you are a genetic counselor. You counsel couples both before and after pregnancy on fertility, genetic disorders, and pregnancy issues. Several couples you counseled are discussed below. What may they learn by going to you, a genetic counselor? 1. The Millers have one brown-eyed female child and one male blue-eyed child. They are twins. How is this possible? Explain how that is possible by reviewing the phenotype and genotype of each child. There are two different types of twins: monozygotic twins (identical) and dizygotic twins (not identical). In this case, the twins are dizygotic because they do not share the same characteristics or gender, so each twin has his/her own set of genes from the parents. It is likely that one of the...

Words: 861 - Pages: 4

Free Essay

Factors Affecting Students in Terms of Comprehension and Literature

...Existential counselling is a philosophical form of counselling which addresses the situation of a person's life and situates the person firmly within the predictable challenges of the human condition. Existential counselling considers human living to take place within four dimensions: physical, social, psychological and spiritual. It shows each of these dimensions to be constituted like a force field, within which predictable paradoxes, tensions and dilemmas play out. Human beings can learn to deal with these tensions and conflicts more effectively by facing up to the negatives as well as the positives of their lives, including the tensions of life and death, love and hate, strength and weakness and meaning and absurdity. Best known authors on existential counselling are Irvin Yalom in the USA through his book Existential Psychotherapy (1981) New York: Basic Books and Emmy van Deurzen, who created the British School and who published her bookExistential Counselling and Psychotherapy in 1988 (London: Sage Publications; second edition 2002, third edition 2011). Existential therapy essentially helps deal with the problems of everyday living, such as relationship difficulties (both with Individuals & in Couple Therapy), anxiety/fear, food/body-image issues, addictions, mood disorders, social anxiety, panic, trauma, low self-esteem, unresolved childhood issues, sexual issues and others. It is a clear, direct and honest approach helping clients work on their particular,......

Words: 1485 - Pages: 6

Premium Essay

Current Professional Issues

...Items Name Institution Current Professional Issues, Relevant Etiological Models, and Key Actionable Items Introduction Thesis Statement: A healthy therapeutic alliance depends upon the resolution of professional issues facing the client-counselor relationship in addiction counseling practice. Counselors encounter regular professional challenges. These problems are exacerbated in substance abuse counseling due to the link between criminal activity and addiction. Counselors must weigh the risks and gains of various solutions to arrive at suitable decisions. This paper examines five current professional issues in addiction counseling, including the relevant etiological models and key actionable items for addressing these issues in a real world environment. Professional issues encompass topics of debate on practical or ethical conduct that underpins appropriate professional practice. In addiction counseling, five such issues are client rights (confidentiality, privileged communication, and privacy), physical and psychological self-care by the counselor, dual relationships, countertransference, and record keeping. Professional Issues In addiction counseling practice, it is common for interested parties (family members, medical doctors, probation officers, psychologists, or other counselors) to ask a counselor to share information concerning a client. Such a request could also come from an ancillary helping professional or the judicial system.......

Words: 1741 - Pages: 7

Premium Essay

Mental Health Counselor

...Why I chose to become a mental health counselor Counseling others is a difficult job that requires people to listen, take notes, and respond in ways that are positive and helpful. It is important that trust be built between the counselor and the patient so that the patient will feel comfortable speaking about issues that are private or embarrassing. There are many different types of counselors including drug counselors; marriage counselors, grief counselors, job counselors, diet and exercise counselors, and others that can help people improve their lives in different ways. Counselors are trained to offer advice and listen to issues that may be bothering other people. They are not allowed to prescribe medication or expected to provide medical advice. Approximately 25 percent of North Americans suffer from diagnosable mental health issues each year. With the increasing awareness of the related social, political and economic impacts of these problems, there is a greater need for professional mental health counselors. Additionally, health care insurance providers, driving the demand for more qualified professionals, recognize most mental health counseling. After earning a master's degree in mental health counseling, most people choose to get licensed or certified in a specialty such as: • Rehabilitation counseling • Substance abuse counseling • Marriage and family counseling Mental health counselors work with individuals, groups and communities on a variety of mental health...

Words: 1282 - Pages: 6

Free Essay

Ethical Codes with a Marriage and family therapist who might need to seek appropriate processional help for personal problems and conflict that might occur or may impair work performance. (AAMFT) This has to deal with a therapist who might have an issues that is brought up during a session, if a Marriage and Family therapist is working with a client and an issue dealing with adultery comes up the counselor might have had a similar situation that causes a reaction. It is important for the counselor to understand that these emotions might come up and the appropriate way to address them. Seeking assistance in this profession is an important especially if they plan on continue counselor with the set clients. Often times even a therapist attends a counseling just to help sort out some emotions that might arise. 3.10 Gifts: This ethical code has to do with a therapist receive or giving gifts of substantial value, or a gift that might impair the integrity or efficacy of the therapeutic relationship (AAMFT). Often time’s clients want to show appreciation for the healings that they have experienced. Some of the time a simple thank you is not enough, in some cultures it is custom to give a gift. One suggestion that a therapist might try is to place the “no gift giving” in the informed consent. This way the client will have a hard copy of the understandings. Another options is to send out a kindly reminder during the holidays that gift are not needed, all though this practice might......

Words: 394 - Pages: 2

Premium Essay


...Marketing task As I stated on the phone, nominal marketing will be a peripheral aspect of the position. While I do not expect a formal marketing proposal, I am looking for someone that can think outside the box and help me to grow the practice through various marketing tools, as well as manage the day to day scheduling and office duties more typical of an administrative assistance. I recognize that I am asking the person that assumes this position to wear multiple hats, mostly because I have been wearing those multiple hats myself for the past 9 years of my independent practice. I have included some basic information about my practice, applications of my services, as well as typical fees for service. Think outside the box and be creative in developing a few potential marketing strategies that you think might work well for my practice. Please recognize that I am critiquing you more on work product (accuracy of information and thoughtfulness of proposals, along with your creativity) in addition to your writing and organizational skills on this exercise. I look forward to seeing what you develop and to meeting you during our interview time next week. My practice is typically composed of 10-12 sessions per week. Sessions are a mixture of individual, couples, and family sessions. I am looking to develop a greater basis for psychological evaluations and potential forensic involvement in custody evaluations for divorcing families. I have developed evaluations that focus on...

Words: 496 - Pages: 2

Premium Essay


...Tsunami – Natural Disaster – Effects on the Survivor Tsunami is a sea waves that is caused by an underwater earthquake. The water quickly move under water until it reaches land with waves reaching 50 feet or higher resulting in individuals losing their family members, home, money or business from the tsunami. People who encounter a Tsunami event struggle with psychological problems days and weeks after the traumatic event such as depression and different levels of post traumatic stress disorder (PTSD). Survivors constantly experience feelings of anxiousness and stress because of the fear of danger from another tsunami. Murdered Child – Personal Trauma causing Crisis - Effects on the Survivor The murder of a child can be devastating especially when it’s your own. The hurt and pain can be compound when the death is determined by a heartless human being. Parents and the family faces complicated issues such as trying to understand “why” someone would want to kill their child who they love and will miss. Coping with the “miss” is the challenging part. A parent of a murdered child handles grief differently. Some parents try to continue normalcy while others have extreme difficulty coping with the lost such as obsessive thinking, suicide, anger, fears and anxiety. The hard part is grieving; however; everyone grief’s differently must. Effects on First Responders First Responders are vulnerable to stress and trauma as they are exposed to events every day in their work......

Words: 805 - Pages: 4

Premium Essay

Mental Health

...Mental Health Counseling The reason I chose to obtain a MS in Mental Health Counseling is because I have already obtained a MS in Criminal Justice and learned why individuals commit crimes and the different theorist that have studied to criminal mind to try to find an answer to this age old questions, why do individuals commit crimes? Which many has come to conclusions but the end results is many have been incarcerated when they needed medical attention. I have obtain many reasons as to why individuals commit crime but I want to get to point of knowing what influenences are there are mental health issues one of the reasons why our prison system is being overflowed and are these individuals being overlooked. These factors motivates me as an individual which I believe will prepare me to become a competent counselor. I feel as though we are not in the individuals life to judge but to motivate, to achieve a common goal of seeking and resolving a issues/problem that he/she is conflicted with. I intend continue to grow within the counseling field by continuing to research issues that effect society today, such as mental health and seeking solutions for these individuals to be able to live normal lives without the ridicule or label. Being able to write about mental issues and ways to resolve it is a lifelong dream but I feel as though with any profession comes experience and the more experience one has the more knowledgeable one becomes and it is at this point that I feel as......

Words: 1193 - Pages: 5

Premium Essay


...Accomplished, achievement-driven and results oriented individual, seeking entry into Masters of Science in Mental Health Counseling with a Forensic Counseling specialization. Personal/Professional Goals I am interested in furthering my degree, so I can advance in my career and more effectively help people with mental health disorders within the judicial system. After I earn a Master’s of Science in Mental Health Counseling I want become a licensed clinician. My focus primarily will be on helping youth that are court adjudicated into residential therapeutic facilities, such as KidsPeace. At KidsPeace they accept adjudicated clients but there is not a specific program in place to effectively treat these individuals. It is my goal along with the program director of the organization for myself to develop and pioneer a conduct disorder program and establish it within the KidsPeace organization. The reasoning behind choosing this field is my work experience and some of the population I have been exposed to. Through my observation violence is a learned behavior, and unfortunately young victims of violence generally become perpetrators of crime and develop mental health disorders. Many times if juvenile offenders are not adjudicated to the correct residential therapeutic facility; that specializes in conduct disorder programming. When this happens these individuals are more likely to cycle through the judicial system and become career criminal, which leads to over populated......

Words: 1346 - Pages: 6

Free Essay

Social Impact

...Multicultural Awareness Multiculturalism has a vital role in counseling. According to Hays (2010) this type of counseling pays attention to the cultural diversities of clients in order to offer better services. To achieve multicultural awareness, the counselor has to know his or her own cultural characteristics. This article will contain the results of the multicultural-assessments I completed, my reflection on being “other,” as well as my statement of counseling identity and the explanation why multicultural awareness is important in the mental health counseling profession. Results of Self-Assessment Completing Petrone’s (2004) multicultural self-assessment was interesting and eye opening. In this test, choice number 1 means seldom, if ever; number 5 means almost always. Most of my scores were either fours or fives; these results tell me that I am interested in other people, paying attention to listen, and I am comfortable with new situations. I scored three threes in the following subjects: 1) I ask questions until I am sure I understand what others are saying; 2) If I were at an event with people who differed from me, I would make every effort to talk with them; 3) I try not to assume anything. Reaction to Self-Assessment After I finished the self-assessment, I immediately started thinking about the results. I realized that my not asking questions until I understand what others are saying is connected to the lower score about not assuming anything. Levitt (2010)......

Words: 319 - Pages: 2

Free Essay

Counselor Confidentiality

...The objective here that is seeking to be answered is, "If a counselor is an associate Pastor on staff or even just solely a counselor should the Senior/Sole Pastor be made aware of details on every client, since it is important for the Pastors to know their flock in order to best know how to lead and tend them, or does confidentiality apply always strictly between counselor and counselee". It is important to start off understanding what Counselor confidentiality is at its most fundamental nature. It is the responsibility of a therapist or counselor to hold any proprietary or personal information supplied by a patient in the strictest of confidence. It is a generally accepted ethic that breaking counselor confidentiality by revealing the type of information stated above, without the expressed permission of the patient, is considered highly unethical. Keep in mind, however, that in Standards B.1.d, the ACA Code of Ethics requires counselors to fully inform their clients of the limits of confidentiality (ACA, 2005). Also, HIPPA- Health Insurance Portability and Accountability Act-actually gives a list of nearly two pages of things where confidentiality may be breached legally ( Counselor confidentiality in a "classical" setting, which is the viewpoint we have been speaking from thus far, is designed to allow patients the freedom to share information about themselves that is private in nature, but is important to the process of helping the......

Words: 2412 - Pages: 10

Premium Essay

Person-Centered Therapy

...PERSON-CENTERED THERAPY Most important person and what they believed: Carl Rogers created Person-Centered Therapy in the 1940’s. Rogers humanistic approach was revolutionary in shifting the mainstream ideology of psychoanalytic and behavior counseling modalities to a client-based approach. Although this counseling modality was initially called nondirective counseling and underwent four main development/evolutionary stages, Rogers maintained his belief that it is ultimately up to the client, not the therapist, to become the agent needed for self-change. Rogers was a humanist who believed that people are ultimately trustworthy, they have the potential to understand themselves and resolve their own problems, and much of the clients’ ability to change lies in the relationship found between they client and the counselor. Philosophy: The main philosophy behind Person-Centered Therapy is that the client is capable of becoming fully functioning individual, whom is responsible for creating change to help resolve issues they face in their lives; people can worked toward self-awareness and self-healing, without the direct influence and techniques used by a therapist. Person-Centered Therapy treats every client as a unique individual and has respect for the client’s subjective world. This approach also believes if a person enters into a positive, genuine relationship with a counselor, every person attains a natural potential to actualize and finding meaning in their life. The......

Words: 1298 - Pages: 6