2.1.1 Chronicles Of A Genetic Counselor

Both of the Smith brothers are faced with difficult questions regarding the health of their future offspring. James and his wife will soon be having a new baby. Aaron and his wife are hoping to become parents. Tests that screen for abnormalities in the genes can provide information about their children before they are conceived or before they are born. They both hope that a genetic counselor can offer advice and help them navigate their reproductive choices. A genetic counselor can help a family understand the risks of having a child with a genetic disorder, the medical facts about an already diagnosed condition, and other information necessary for a person or a couple to make decisions suitable to their cultural, religious, and moral beliefs. Scientists have worked tirelessly to decode our genetic code. The goals of the Human Genome Project were to determine the sequence of the three billion base pairs that make up human DNA, identify all of the genes, and devise a method to store and analyze all of the data. The completion of this project in 2003 gave us the “parts list” for a human being. While scientists are still working to figure out how all of these parts fit together, they have learned the specific function of many genes in our genetic code, as well as how these genes determine traits and sometimes even signal disease. Our genome consists of more than three billion base pairs. Surprisingly, fewer than one percent of these As, Cs, Gs, and Ts differ from person to person. Differences in our DNA help code for our unique appearance, personality, traits, and even our susceptibility to disease. Genetic diseases and disorders are illnesses that originate in our chromosomes and DNA. These genetic changes can be passed down from parent to child. Modern 1 biology has given scientists the tools to examine changes in our DNA and to test for the presence of thousands of these genetic diseases. Genetic testing is the use of molecular methods to determine if someone has a genetic disorder, will develop one, or is a carrier of a genetic illness. Genetic testing involves sampling a person’s DNA and examining the chromosomes or genes for abnormalities. The abnormality may be large; a large piece of a chromosome or a missing chromosome may be visible under a microscope. Other abnormalities may be the result of a single base pair change—substitutions, deletions, or additions—in a single gene. Information from the Human Genome Project is expanding the uses of genetic testing to examine not only reproductive risks, but adult-onset conditions such as Huntington’s disease, mental illness, and even cancer. In this activity, you are in the final steps of your training to become a genetic counselor. As a practical exam, you are asked to chronicle the case of one of your clients. Your notes on the case should showcase your expertise, your compassion, and your ability to provide clear, understandable options and advice. You will be assessed on the depth of your research, the sensitivity you show towards your client and the thoroughness of your analysis and recommendations. It is your final exam and you want to impress. ● Computer with internet access and presentation software ● ● ● ● ● 2.1.1 Student Response Sheet Family Bulletin 2 Genetic Disorders Presentation Citing Sources Genetic Counseling Case Files 2 ● Presentation Rubric ● Delivering Effective Presentations Procedure Read Family Bulletin 2 to hear about the newest addition to the Smith Family. Obtain a Student Response Sheet and fill out the Genetic Testing Pre-Survey on the Student Response Sheet. Discuss your responses with the class as directed by your teacher. Take notes as you review the Genetic Disorders presentation. Record information in the table below as the teacher reviews the slides. Research the following disorders and match them with the appropriate type of genetic disorder. Record information about each disease in the “Example” column of the chart. o Duchenne Muscular Dystrophy o Cystic Fibrosis o Huntington’s Disease o Down Syndrome o Leber hereditary optic neuropathy o Alzheimer’s Disease Type of Genetic Disorder Single Gene - recessive - dominant - sex-linked Description[s] Example[s] - include information about the cause of the disease as well as how the disease affects the patient. Single gene disorders are caused by changes to one gene. It is caused when a gene is mutated which results in a protein no longer able to do its job. They can be inherited in recognizable patterns (autosomal Duchenne Muscular Dystrophy (sex-linked): - Mutations in the DMD gene occur, which is important for muscle function. Cystic Fibrosis (recessive): - Mutations in the CFTR gene lead to thick mucus production. Huntington’s Disease (dominant): 3 recessive, dominant, and sex-linked). Multifactorial Chromosomal Mitochondrial - There is a repeat in the HTT gene, which leads to neurons in the brain losing function. Multifactorial disorders are caused by a combination of environmental and variations in genes. Alzheimer’s Disease: Chromosomal disorders occur when chromosomes are missing or there are extra copies. Down Syndrome: Mitochondrial disorders are caused by mutations in nonchromosomal DNA of mitochondria. It is passed solely from mother to child. Leber Heriditary Optic Neuropathy: - - - Influenced by a combination of genetic factors (APOE) and environmental factors (lifestyle, diet, and health). An extra copy of chromosome 21 is caused due to nondisjunction during meiosis. Mutations in mitochondrial DNA causes vision loss. Match each of the disorders listed on the 2.1.1 Student Response Sheet to one of the classifications of disorders mentioned in the presentation. Be specific about how this disease is inherited or passed on and whether or not this disorder is the result of abnormalities in a gene or on a chromosome. Think about how these abnormalities affect function and describe how the disease affects function. Watch this video to learn more about a career as a genetic counselor. Use the internet to research more about the genetic counseling profession. In the space below write a one paragraph job description for a 4 genetic counselor. Be sure to properly cite your sources [APA format]. The Citing Sources resource to help with the format for citations. Genetic counselors are healthcare professionals who evaluate genetic information to assess the risk of inherited diseases/conditions. They evaluate genetic test results, educate patients about their genetic disorders, and manage decision-making regarding management plans. They work closely with patients to discuss health, planning, and treatment, and they ensure that individuals understand their options and risks. They have to conduct research, advocate for patients, and collaborate with teams. National Society of Genetic Counselors. (2024). What is a genetic counselor? Retrieved from https://www.nsgc.org/p/cm/ld/fid=45 Using the list of genetic disorders in the Student Response Sheet, brainstorm how a genetic counselor might help in the case of two of the disorders. Record your answers in the spaces below. Disorder Genetic Counselor Impact Alzheimer’s Disease They can look at family history to assess how likely someone is to develop Alzheimer’s. They could also discuss benefits and limits of genetic testing for mutations associated with the disease. Cystic Fibrosis A genetic counselor can offer screening for families planning and help them understand their chances for birthing a child with cystic fibrosis. Obtain a Genetic Counseling Case File patient from your teacher. Each file provides background information on a person or a family that is seeking your advice and expertise. You will work on the case as a member of a team. Silently read the genetic counseling case. Your team’s job is to investigate the disease or disorder in question and decide how to counsel the family. Remember, you are not telling them what to do. You are providing information and options as well as answering their questions. 5 Research the genetic disorder/condition of concern. Learn all you can about the cause(s) of the disorder, the pattern of inheritance, the role genetic testing can play in this case, the symptoms and prognosis of the disease, as well as the severity of the conditions. You must have a bibliography slide for any resources used. Cite all informational sources and only URLs for any images used. Use the website listed below or other reliable sources to begin your research: Place your source citations and if necessary, place any research notes in the space below. Johns Hopkins Medicine. (2022). Bone marrow transplantation. Johns Hopkins Medicine. https://www.hopkinsmedicine.org/health/treatment-tests-and-therapies/bo ne-marrow-transplantation Mayo Clinic. (2023, June 13). Bone marrow transplant. Mayo Clinic. https://www.mayoclinic.org/tests-procedures/bone-marrow-transplant/abo ut/pac-20384854 MD Anderson Cancer Center. (n.d.). Hereditary leukemia clinic. MD Anderson Cancer Center. Retrieved November 6, 2024, from https://www.mdanderson.org/patients-family/diagnosis-treatment/care-ce nters-clinics/leukemia-center/hereditary-leukemia-clinic.html National Cancer Institute. (2024). Leukemia - Childhood. U.S. Department of Health and Human Services. Retrieved November 6, 2024, from https://www.cancer.gov/types/leukemia Genetic Counselor Case Notes Think about how you would counsel your patient. Your job is to produce the case notes or chronicles of a genetic counselor.A colleague should be able to pick up your notes, read your recommendations and be able to counsel the family. Impress your employer with how much you know! Your notes should include: 6 ● A brief description of the disorder or disease in question. REMEMBER: You will be speaking to a family that may have little or no background in science or genetics. Be clear and descriptive and use appropriate and well-explained medical terminology. ● A pedigree showing inheritance or a karyotype of the disorder as applicable to the case. Make sure to explain to the family what this diagram tells them about the likelihood of disease. ● A list of at least three questions the couple or patient is most likely going to ask you about the situation. Provide a brief response to each question using a different color pen or text. ● A case recommendation. Using information you have learned about the case, provide recommendations to the patient or family. Make sure to reference their personal situation and to provide options. Refer to the available types of genetic testing that are applicable to the case. Your job is to help the patient or family understand their risks and their reproductive options and to discuss options for testing, treatment, or living with this disease. Be sure to discuss potential ethical or moral issues associated with genetic testing and screening. Your recommendations should help the parents or the patient make well-informed decisions related to his or her own health and the health of their offspring. Present your case to the class in a formal ten-minute presentation. Speak to the class as you would your client. Your presentation must include properly cited sources and the URLs for any images used. Review the Presentation Rubric and Delivering Effective Presentations to help you prepare for your presentation. 1. How would a genetic counselor use a pedigree to help his or her clients understand genetic diseases? A genetic counselor would use a pedigree to help his or her clients understand genetic disease to give their clients an understanding on the risk factor for a certain disease for an incoming child. 7 2. Compare and contrast preimplantation genetic diagnosis and fetal testing. Does one type of test raise more ethical concerns than the other? Explain your thinking. Both are techniques used to assess genetic conditions and have ethical concerns. Preimplantation genetic diagnosis is performed through embryos created in IVF before they are implanted into the uterus. It allows parents to choose embryos free of specific genetic conditions. Fetal testing is conducted during pregnancy to detect genetic abnormalities in the fetus. They both have specific ethical concerns. Preimplantation genetic diagnosis’s concerns are mostly how choosing certain embryos may be morally wrong. Fetal testing’s concerns are the concerns with aborting a baby. I think that the preimplantation genetic diagnosis raises more ethical concerns. 3. Explain why parents may be fearful or apprehensive about genetic testing. Parents may be fearful or apprehensive about genetic testing because the emotional impact on them and the pressure on making a decision on what to do after they learn information. 4. How might factors such as income and access to medical insurance, influence a couple’s genetic testing and reproductive decisions? Factors such as income and access to medical insurance may influence a couple’s genetic testing and reproductive decisions because if a family has less money, they may not be able to afford tests or follow-up care, and the quality of specialist they go to may not be up to par. Parents with a better insurance plan may have more options than those who don’t. Parents who have limited resources may also feel rushed and make decisions that won’t align with their long-term goals. 8 5. Why are studies of identical twins raised in different environments extremely valuable in understanding the causes of a disease? Studies of identical twins raised in different environments are extremely valuable in understanding the causes of a disease because they share completely the same genetic material, and researchers can look at different environmental factors to determine how they contribute to the progression of diseases. It would also be a natural experiment, so it is a unique way to conduct a controlled experiment. 6. Recall the molecular tools you studied in PBS and HBS: Gel Electrophoresis, PCR, and Restriction Analysis. How do you think these techniques and procedures can be used to test human genes? Gel Electrophoresis can be used to analyze variations in DNA. PCR can be used to target specific regions, and can be used to amplify certain segments, making it easier to study. It can also be used to identify a pathogen which could aid in diagnosis. Restriction Analysis can be used to build genetic maps and compare fragments from different individuals. Variations found could signify diseases. 9