Clinical Genetics,Exercise

Numbering Code P-PUB01 8N006 SJ90 Year/Term 2021 ・ Second semester
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 and 6th periods on Wednesdays (Classes are held biweekly, but note that there may be exceptions).
Classroom: Building G, 3rd floor, Seminar room. Level: Advanced
Staff in charge: Shinji Kosugi, Takahito Wada, Ken Nakajima, Takahiro Yamada, Hideaki Sawai, Hidenori Kawasaki, Akiko Yoshida, Masako Torishima, Hiromi Murakami, Nana Akiyama, Kei Inaba, Saeko Katsumoto, Chiho Okada, Tomoka Sato
SC: A simulated patient volunteer (e.g., an SPH graduate student)

[Course overview] ・ An orientation is given two weeks before the start of the exercise.
・ In the first three months, there may be only one client (CL).
・ The client role is played by an M1 once.
・The instructor in charge notifies all parties concerned of the basic settings at least two weeks in advance (it is his or her responsibility to explain the purpose of the role-play exercise). Two scenarios are set. 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.
・In case of changes in the basic settings during the examination process, all parties involved must be notified in advance.
・The genetic counselor (M1), CGC mentor, and teacher in charge must also hold a preparatory meeting before the course.
・ The genetic counselor (M1) must distribute the feedback sheet and material used in genetic counseling by the day before the course starts.
・ On the day of the exercise, between 4:30 and 4:45 PM, the CL role, the instructor in charge, and CL setting instructor check the content in a separate room or online.
・ Two scenarios of role play are performed between 4:45 and 6:50 PM.
・ Feedback is given in the following order: genetic counselor (M1), CL role, instructor in charge, and CGC mentor. The other participants receive it via the feedback sheet.
・ From 6:50 PM (until 7:45 PM at the latest), the genetic counselor (M1), CGC mentor, and instructor in charge make a retrospective of the day.
・ Later, 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.
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] 9/1
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/2nd lectures] 9/22 [Wada /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.
[3rd/4th lectures] 10/6 [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/6th lectures] 10/27 [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.
[7th/8th lectures] 11/17 [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.
[9th/10th lectures] 12/1 [Yamada/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.
[11th/12th lectures] 12/15 [Nakajima] “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/14th lectures] 1/19 [Sawai/Yamada] “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 concerning proposals for future pregnancies, including preimplantation genetic diagnoses.
[15th/16th lectures] 2/9 [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.

 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.
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