Trends in Genetics and Genomics for Health Care and Society

Transcription

1 DUKE UNIVERSITY SCHOOL OF NURSING N563 Trends in Genetics and Genomics for Health Care and Society Course Number: Course Title: N563 Trends in Genetics and Genomics for Health Care and Society Course Description: This course provides an overview and guided discussions on modern concepts of heredity in light of recent advances in genomic technologies. Students and health professionals will learn fundamental concepts in genetics and genomics, examine the challenges of integrating genetic and genomic technologies into clinical practice and the impact of such applications on society. Learning approaches will include didactic lectures, case studies, and exploration of actual genomic test results. Students wishing to pursue a special topic can register for a 1-credit Independent Study with instructor permission. Enrollment None. Eligibility: General Information: Credit: 2 Semester Summer Location: Campus Thursdays 2-4pm, Pearson Room 1009 Faculty: Jennifer R. Dungan, PhD, RN Assistant Professor, Duke University School of Nursing 1024 Clipp Research Affairs Bldg, 1024, DUMC Box 3322 Office: jennifer.dungan@duke.edu Allison Vorderstrasse, DNSc, APRN, CNE Assistant Professor, Duke University School of Nursing 2015 Pearson Building, DUMC Box allison.vorderstrasse@duke.edu Sara H. Katsanis, MS Associate in Research, Duke University Institute for Genome Science & Policy 236 North Building, DUMC Box Office: sara.katsanis@duke.edu Staff Assistant: Najla McClain Office: 1030 Clipp Research Building Phone: (919) najla.mcclain@duke.edu

2 Accommodations: Students who believe they may need accommodations in this class based on mental or physical impairments must contact the Student Disability Access Office, as soon as possible at or Computing & Sakai Online Learning System: This course is offered online using the Sakai online learning system: The policy for computing requirements for online courses is: Once you register, you will be enrolled in this Sakai course. When you log in with your Duke (DUHS) username and password, you will have full access to the course materials in the Sakai web platform. All students and audits have access to computing/technical support available via the DUSON Center for Information Technology and Distance Learning. Review the following document for location, hours, and contact information: ( The help desk is: Course and Teacher Evaluations During the last few weeks of this course, you will be sent information about completing an evaluation of the course itself and the faculty who taught it. It is the student s professional responsibility to complete those evaluations and give thoughtful, constructive feedback about what worked well and what could be changed to strengthen this course. Please discuss any questions about these evaluations with the course faculty or your advisor. Your evaluations are confidential, anonymous to faculty, and will in no way affect your grade in the course. Honor Code The Duke School of Nursing Honor Code is always in effect. It can be found at: Students are asked to read this carefully prior to submission of assignments. For each assignment submission, please copy/paste the following statement in the body of the and type your name afterward in lieu of a written signature: "I attest that I have read the Duke University Honor Code and have completed this assignment in full compliance with the honor code." (Your Name) Course Objectives: 1. Identify principles of genetic and genomic variation. Outcome criteria: Recognize fundamental differences in single-gene versus genomic variation within humans. Interpret general concepts of genetic/genomic inheritance, mutation, and functional significance with respect to human traits, ancestry, and disease. report, and case studies. 2. Discuss trends in clinical genetic and genomic testing. Outcome criteria: Identify examples of current gene/genome tests in practice as well as burgeoning tests in the research market. Discuss practical applications of such tests. Identify and 2

3 evaluate evidence of analytic/clinical validity and make assertions of clinical utility for such tests. report, and case studies. 3. Discuss patient and practice factors involved in implementing genetic testing to individuals and families. Outcome criteria: Recognize individual and systems-based factors impacting the implementation of genetic testing within various clinical and health-care system contexts. report, and case studies. Successful synthesis of concepts in the genomics and society essay. 4. Examine the impact of ethical, legal, social and cultural issues arising in the provision of genetic and genomic testing in health care, as well as the policy implications. Outcome criteria: Identify and discuss major policy developments in the provision of genetic/genomic applications for health care. Recognize and discuss various ethical, legal, social, and cultural issues impacting genetic/genomic-based health care. Evaluation: Participation in discussions. Analysis of case studies. Successful synthesis of genomics and society essay. Course documents and materials All course documents, recordings, and materials will be posted in Sakai for each date in the Calendar. Due dates for assignments will also be posted in the course calendar. Assignments will be due by beginning of class (2pm Thursdays), on the due date. Evaluation Methods ASSIGNMENTS AND GRADING* *Audit requirements: Auditors are expected to post on at least 2 Sakai discussion boards. Auditors are not required to participate in homework, quizzes, or assignments, but may do so and will receive feedback. **Presentations: Twice during the semester, presentations are planned for two of the assignments. Due to the number of students in the class and the nature of the assignments, we will be splitting the class into two, so that each student will only present once during the semester. Everyone will still submit both assignments, but will only present to the class for one of them. These presentations will be decided on the first day of class. Attendance and Participation (10%). Please inform instructors prior to absences. Active participation is expected at each class. Quiz (15%). In class on June 5 th. One quiz containing multiple choice and short answer questions will be posted on Sakai and will cover foundational concepts from the course. Topics covered in the quiz will be provided to you. Gene/SNP review (15%). Due June 19 th. Students will select a SNP and annotate that SNP, providing pertinent information about the genetic characteristics for that SNP, characteristics of the gene itself, and 3

4 diseases/traits that are associated with the SNP/gene in the literature. Specific details will be provided in the rubric. Clinical Case/23andMe Mock Patient Profile (25%). Everyone submits written assignment on July 17 th. Select students will present assignments in class on July 17 th. Students will select one of 3 assigned Mock Patient Profiles from 23andMe (you will be given access to these for the class). Using the rubric provided, students will answer questions about the 23andMe profile related to: genetic risk estimation, gene marker information, non-genetic factors/effects, interpretations/recommendations, and consideration of the state of the genetic science for the presented disease. Genomics & Society Op-Ed essay (25%) and 4-5 minute elevator speech (10%). All on August 7 th : Everyone will submit their essays and pre-recorded elevator speeches no later than August 7th and some presentations of videos will be viewed in class on the same day. Students will identify a singular issue in genomics that impacts society and write an opinion editorial ( Op-Ed ) essay (no more than 1,000 words) that clearly and succinctly presents the issue, proposes a stance, develops arguments to support the stance, and provides evidence to support a policy approach. Papers are to be formatted as a traditional Opinion Editorial. Students will write this policy essay on a self-identified singular issue within one of the broader bulleted themes below. *Singular topics/issues will need to be submitted for instructor approval by by June 26 th. Genomic testing of minors Use of research results in a clinical setting DIY and DTC genomics Disparate access to genomic services Students will then present (via pre-recordings of themselves) a 4-5-minute elevator speech that is intended to persuasively present your stance and policy approach to your specific issue. Selected class presentations of the elevator speeches will be held on the final day of class, August 7 th DUSON uses the following standardized grading scale: A A B B B C C C F 69 and below Textbook: No textbook will be used in this course; however, readings and web resources (such as tutorials/videos/etc.) will be posted each week for review. Major Topics: Through didactic lessons and evaluation of actual genomic test results (and/or personal genome option) the learner will address the following: Foundational concepts in genetics and genome variation Principles of genetic testing and clinical applications Genetic ancestry 4

5 Genetic discrimination in personal genomics Access and implementation challenges Direct-to-Consumer (DTC) applications Clinical interpretation and reporting of genomic variation 5