Clinical Genetics,Exercise
| Numbering Code | P-PUB01 8N006 SJ90 | Year/Term | 2022 ・ Second semester | |
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| Number of Credits | 1 | Course Type | Seminar | |
| Target Year | Professional degree students | Target Student | ||
| Language | Japanese | Day/Period | ||
| Instructor name | KOSUGI SHINJI (Graduate School of Medicine Professor) | |||
| Outline and Purpose of the Course |
[Basic information] Also known as “genetic counseling role-play exercise” Class date and time: Second semester. 5th periods on Wednesdays (Please note that there may be exceptions). Classroom: Building G, 3rd floor, Seminar room or Online lecture. Level: Advanced Staff in charge: Shinji Kosugi, Takahito Wada, Ken Nakajima, Takahiro Yamada, Hideaki Sawai, Hidenori Kawasaki, Akiko Yoshida, Masako Torishima, Hiromi Murakami, Sayaka Honda, Akira Inaba, Saeko Katsumoto, Chiho Okada, Chika Sato, Hitomi Yamada [Course overview] ・ An orientation is given four weeks before the start of the exercise (9/7). ・The instructor in charge notifies all parties concerned of the basic settings at least two weeks in advance. The 7th and 10th lectures, the 8th and 11th lectures, and the 9th and 12th lectures use the same scenario, respectively. In case of changes in the basic settings during the examination process, all parties involved must be notified in advance. ・Actual genetic counseling is performed by a medical care team of clinical geneticists and certified genetic counselors with different roles, but one of the characteristics of role play is to perform both. Therefore, tasks such as disclosing genetic test results which in reality are mainly carried out by a clinical geneticist are performed by a genetic counselor in the role-play. This is a valuable experience, not only as a genetic counselor, but also to understand the position of a clinical geneticist. Moreover, having solid knowledge about frequent diseases as a certified genetic counselor is helpful in answering similar questions from clients. ・ Gradually increase the difficulty of role-playing; two genetic counselors (M1) for one client in the 1st to 3rd lectures, two genetic counselors (M1) for two clients in the 4th to 6th lectures, one genetic counselor (M1) for one client in 7th to 12th lectures, and one genetic counselor (M1) for two clients in 13th to 15th lectures. ・In the scene of two genetic counselors (M1), students learn the division of roles, the structure of genetic counseling, disease explanation, and psychosocial support. In role-playing for two clients, students learn the power balance between clients and how to deal with disagreements. In a two-scene role-plays, students learn about continuous genetic counseling, including decision-making support for genetic testing and disclosure of results to relatives. The final goal is for a genetic counselor (M1) to be able to provide client’s concern and background confirmation, agenda setting, disease explanation and decision support for two clients in keeping counseling minds. ・The genetic counselor (M1), CGC mentor, and teacher in charge must also hold a preparatory meeting before one week the course. Other meetings are held as needed. ・ The meetings of clients and instructor are also held as needed. The client role is played by an M1 once. ・ The genetic counselor (M1) must distribute the feedback sheet and material used in genetic counseling by the day before the course starts. ・ Constructive and positive feedbacks are welcome from genetic counselor (M1), CL role, instructor in charge, CGC mentor and audiences. Also collect comments on the feedback sheet. ・If necessary, the genetic counselor (M1), CGC mentor, and instructor will look back on the day or at a later date. ・After 7th to 9th lectures, the genetic counselor (M1) and CGC mentor make another retrospective of the exercise using a partial transcript and feedback sheet, and submit the report to the instructor in charge within a week. In addition, after all role-plays are completed, students must submit a review report to Torishima and Yoshida. ・The schedule may change depending on the number of students taking the course |
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| Course Goals | Acquire practical skills as a genetic counselor and practical response capability in the field. Acquire knowledge of clinical genetics and the basic skills of genetic counseling. | |||
| Schedule and Contents |
[Initial meeting] 9/7 5th period [All members] “How to Perform Role-Play and Orientation for Genetic Counseling Practice”: The objective, method, and significance of role-play. Orientation for genetic counseling practice. [1st lecture] 10/5 [Kawasaki] “Marfan Syndrome”: The goal is to be able to outline Marfan syndrome (which is relatively common and can cause life-long prognostic complications), to explain the need for surveillance and the significance of genetic testing, and to contribute to the diagnosis of blood-related relatives who may be at risk. [2nd lecture] 10/12 [Nakajima] “Familial Adenomatous Polyposis”: Learn about FAP disease and genetic testing, identify At-risk individuals in the family, and support sharing information among relatives. [3rd lecture] 10/19 [Nakajima] “Li-fraumeni syndrome”: A case of a young-onset cancer patient suspected of having Li-fraumeni syndrome by a panel examination of cancer tissue is set. The goal is to be able to explain the significance of germline genetic testing and its impact on relatives. [4th lecture] 10/26 [Yamada] “Prenatal Diagnosis”: This lecture is focused on genetic counseling concerning prenatal genetic testing. It prepares students to be able to provide information, including the natural history of diseases and recurrence rates based on an appropriate genetic evaluation. [5th lecture] 11/2 [Wada] “Duchenne Muscular Dystrophy”: Through sporadic cases of patients diagnosed with DMD, students will learn how to conduct a genetic diagnosis and detect whether the mother or sisters are carriers of X-linked hereditary diseases. [6th lecture] 11/9 [Yamada] “PGT-A”: The purpose of the role play is to provide appropriate information about PGT-A and to learn about the psychosocial support for the needs and worries from the couples. [7th lecture] 11/16 [Nakajima] “Lynch Syndrome”: A person has multiple family members who have died of colorectal cancer in their 40s and 50s and worries that it may be hereditary. This lecture explains how genetic testing is carried out and how to respond in the case of gene mutations. [8th lecture] 11/30 [Wada] “Fabry disease”: Through this role play, students are able to understand and explain the symptoms of Fabry disease, X-linked inherited pattern and its effects on relatives, and treatment methods. [9th lecture] 12/7 [Yamada] “Hereditary Breast Cancer and Ovarian Cancer”: Evaluation of the risk of hereditary breast cancer in a family with multiple breast cancer patients and adaptations to genetic testing. [10th lecture] 12/21 [Nakajima] “Lynch Syndrome”: A person has multiple family members who have died of colorectal cancer in their 40s and 50s and worries that it may be hereditary. This lecture explains how genetic testing is carried out and how to respond in the case of gene mutations. [11th lecture] 1/11 [Wada] “Fabry disease”: Through this role play, students are able to understand and explain the symptoms of Fabry disease, X-linked inherited pattern and its effects on relatives, and treatment methods. [12th lecture] 1/18 [Yamada] “Hereditary Breast Cancer and Ovarian Cancer”: Evaluation of the risk of hereditary breast cancer in a family with multiple breast cancer patients and adaptations to genetic testing. [13th lecture] 1/25 [Wada] “Mitochondrial Disease”: Through the case of a child diagnosed with MELAS, this lecture focuses on genetic counseling in mitochondrial disease, addressing maternal inheritance, diversity of expression, and how to convey uncertain information. [14th lecture] 2/1 [Kawasaki] “Turner Syndrome": Through the case of a girl diagnosed with Turner syndrome, this lecture focuses on deepening students’ understanding of chromosomal numerical abnormalities, as well as preparing them to be able to provide clients with brief information on diseases and future responses while considering their feelings. [15th lecture] 2/15 [Yamada/Sawai] “Recurrent Miscarriage”: In these lectures, students will learn not only about evaluations of obstetrics and gynecology, as well as genetic test-based evaluations, to detect the causes of recurrent miscarriage cases, but also genetic counseling Participants: Students, all related teachers, genetic counseling graduate student (M1), observers (M1, M2, PhD student), GC mentor Video recording: Observers (M1). The video recording and file must be saved on the server for later review. |
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| Evaluation Methods and Policy | Comprehensive evaluation of proactivity in exercises, practical abilities, attendance, reports, and other activities. | |||
| Course Requirements | Compulsory subject only for first-year students in the Genetic Counselor Course (pre-determined subject) | |||
| Study outside of Class (preparation and review) | Instructions will be given accordingly | |||
| Textbooks | Textbooks/References | Not used | ||
