Genetic Counseling Board Review Questions You are meeting with a 25 year old woman and her parents in the cardio genetics clinic. The patient was seen at
... [Show More] an outside institute and had genetic testing related to hypertrophic cardiomyopathy. Unfortunately, genetic testing did not find the cause of her heart condition. Now, the family is coming to you to discuss enrolling in a cardiovascular genetics research study that aims to find new genes for HCM. During the course of the session, you begin to suspect the patient may have a degree of intellectual disability. Once you have taken a family and medical history, you ask the patient, "Susan, when you need to make choices about your health, like starting a new medication, do you make those choices? Or do your parents make those choices with you?" The patient answers that she makes the choices but her parents help her. Her mother helps clarify that they are not medical decision makers for Susan. With that detail, you start to go through the informed consent for the project with Susan and her parents, stopping frequently to gauge Susan's understanding and answer any questions she or her parents have. What is the primary ethical principle you are upholding in this encounter? a. Non-maleficence b. Beneficence c. Autonomy d. Justice *Susan's autonomy to make decisions about entering the research trial You are meeting for a preconception counseling appointment with a couple who are both of Indian descent. The female partner has a sister who passed away shortly after birth of hydrops fetalis. The male partner has no history of thalassemia in his family. The couple is concerned about the possibility of hemoglobinopathies in a future pregnancy. What is the test you will recommend? a. Blood cell counts on the female partner only b. Blood cell counts on both partners c. Blood cell counts and hemoglobin electrophoresis on the female partner first d. Blood cell counts and hemoglobin electrophoresis on both partners *Given the ethnicity of the couple are both from higher risk populations for hemoglobinopathies, carrier screening for both is recommended. You are meeting with a 40 year old male patient who was recently diagnosed with HFE related hemochromatosis after experiencing extreme pain and fatigue for about 10 years. He has a daughter who is 16 years old. After learning the condition is inherited, he wants to know what the chances are his daughter will have the condition. What is the next best response to give to this father? a. "This is difficult to determine without some more information. A key piece of information is if her mother is a carrier for the condition. Perhaps it would be helpful to talk about how this condition is passed in families." b. "Even if she has the genes for hemochromatosis, it is unlikely she will get the condition" c. "This condition is considered adult onset, so we wouldn't be able to test your daughter now for the condition." d. "This condition is usually less severe for females who are menstruating" a. because *The father wants to understand recurrence risk which is influenced by two factors: the mother's genotype and the penetrance for the condition. While the other statements are true, they do not provide any education or context for the father to understand risks for his daughter. You are a new genetic counselor working in a cancer genetics center and starting to get referrals from oncologists at your institution. One day, a breast cancer oncologist calls you to say she is referring a patient to you "Her sister just saw you and was positive for a breast cancer gene. Can you look up what gene it was in and tell me if it impacts my patient?" The provider tells you the patients name and it matches the last name of a woman who you met two weeks ago for a positive genetic test result. The woman you saw specifically stated she did not want her results shared with anyone and declined signing a release of information document. You call the referring provider back to let him know "I can't disclose what gene change was seen in her sister." The referring provider becomes irate and starts to yell at you over the phone. "But you saw the sister! You can at least tell me if this impacts her sister!" What is a good first response to this physician? a. "I understand you're upset but I must respect the privacy of patients" b. "Can I meet with your patient to do genetic testing?" c. "You patient can try to discuss the results with her sister. I am happy to talk with your patient to help her write a letter to her sister explaining the importance of the information for her sister's health." d. "I suppose there's no harm in telling you the results of the sister's genetic test." *It is a good first step to acknowledge the provider's frustration and highlight why you cannot disclose this information. While the other responses may be ways to address the situation (except D, don't do D), this is a good first statement. A 25 year old woman has been referred to genetics by her doctor after multiple episodes of unexplained intense abdominal pain followed by vomiting. What would be the best first test based on your differential? A. Urine analysis for iron B. Stomach biopsy C. Urine analysis for porphobilinogen D. Sequencing of HMBS A is wrong because she doesn't have symptoms of hemachromatosis B is really invasive and not that helpful D isn't technically a bad choice, but is not the best first test because porphyria has many genes that cause abdominal pain/vomiting, but the best first test is to clinically diagnose her with porphyria by looking for the byproduct in her urine You are seeing a couple for preconception counseling. They mention that in their previous pregnancy, they underwent hemoglobin electrophoresis which revealed they are both Hb C/A. Which of the following is the most correct statement? a. Their offspring each have a 25% chance for sickle cell disease b. Their offspring are most likely not at risk for sickle cell disease c. Their offspring may be at risk for mild anemia d. Both B and C Hemoglobin C disease is not a form of sickle cell disease. At least on of the of the biallelic variants needs to be the Hb S allele in order to classify as sickle cell disease A 38-year-old woman is diagnosed with Li-Fraumeni syndrome and the woman has an 11-year-old daughter, Karen. The geneticist recommends that the child be tested for the Li-Fraumeni genetic variant. The mother is concerned about the impact of testing and diagnosis on Karen's psychological well-being. She describes Karen as "highly strung" and as "a worrier." The child has been diagnosed with an anxiety disorder and is managed by a psychologist for counseling. The child is otherwise well. The mother requests that testing be done without disclosing it to the child by adding the test onto routine blood work done for another reason and requests that the results only be revealed if they are positive. a. Defer testing or discussion until the child is 18 and can legally make decisions for herself b. Engage the mother in an ongoing discussion about the benefits and harms of nondisclosure and her daughter's interest in the information c. Test the child secretly, and only tell her if the result is positive for the genetic syndrome d. If the mother refuses testing or disclosure, seek a court order Engage the mother in an ongoing discussion about the benefits and harms of nondisclosure and her daughter's interest in the information You have recently accepted a position as a genetic counselor for a research project that investigates the underlying etiology of rare genetic disorders. Enrollment in the study requires patients to come to your site 2 times a year for sample collection and relevant tests. You are located in a major metropolitan area. You are currently working on securing funding for travel assistance for participants. The ethical principle you are most concerned about here is: a. Beneficence b. Autonomy c. Veracity d. Justice A genetic counselor is designing a retrospective study to clarify the number of patients referred to connective tissue clinic that had a clinical aortopathy panel ordered and a positive result. The information will be de-identified prior to analysis. Which of the following actions is needed before this information can be queried in the electronic medical record system? a. Contact each patient and complete informed consent over the phone b. Provide informed consent at each patient's next follow-up appointment c. Submit an IRB proposal and request a waiver of consent d. Contact Epic support to complete the query and de-identify the data securely A genetic counselor is working in the Cystic Fibrosis Clinic. The first patient of the day, with homozygous F508del mutations, reports improved symptoms since starting Lumacaftor/ Ivacaftor. The genetic counselor is concerned because the second patient of the day, who also has homozygous F508del mutations, is not doing well and shares that he decided not to fill the prescription of [Show Less]