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Graduate Course Proposal Form Submission Detail - GMS6520

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Current Status: -
Campus: Tampa
Submission Type: New
Course Change Information (for course changes only):

  1. Department and Contact Information

    Tracking Number Date & Time Submitted
    5302 2015-10-16
    Department College Budget Account Number
    Medicine MD 06119
    Contact Person Phone Email
    Kathleen Pope 8132598695

  2. Course Information

    Prefix Number Full Title
    GMS 6520 Applied Clinical Genetics

    Is the course title variable? N
    Is a permit required for registration? N
    Are the credit hours variable? N
    Is this course repeatable? N
    If repeatable, how many times? 0

    Credit Hours Section Type Grading Option
    3 C - Class Lecture (Primarily) -
    Abbreviated Title (30 characters maximum)
    Applied Clinical Genetics
    Course Online? Percentage Online
    C - Face-to-face (0% online) 0


    College Biology- 2 semesters; PHC 6570 Human Genetics/Genomics in Medicine and Public Health



    Course Description

    Introduce students to clinical genetics, in pediatric and adult settings and provide an overview of prenatal genetics and genetic counseling, common hereditary cancer syndromes, biochemical genetic syndromes, and genetic aspects of common disease.

  3. Justification

    A. Please briefly explain why it is necessary and/or desirable to add this course.

    Needed for new program/concentration/certificate

    B. What is the need or demand for this course? (Indicate if this course is part of a required sequence in the major.) What other programs would this course service?

    This will be a required course for the proposed MSPH in Genetic Counseling which will ideally begin admitting new cohorts of students each fall beginning with Fall 2016. Additionally, this course will be required in the proposed sequence to meet the accreditation requirements of the Accreditation Council for Genetic Counseling (ACGC).

    C. Has this course been offered as Selected Topics/Experimental Topics course? If yes, how many times?


    D. What qualifications for training and/or experience are necessary to teach this course? (List minimum qualifications for the instructor.)

    To teach in this course individuals should have a terminal degree in Medicine, Public Health, or a related field.

  4. Other Course Information

    A. Objectives

    1. Identify and describe the clinical features and the underlying cause of common genetic disorders that may present in childhood or adulthood.

    2. Understand the basic principles of dysmorphology and the components of a genetics physical exam.

    3. Develop awareness of the sequence and progression of physical and developmental milestones in normal human development from newborns to maturity.

    4. Understand the process of developing a differential diagnosis and strategies used to develop a differential diagnosis.

    5. Explore online resources utilized in a clinical genetics setting

    6. Develop understanding of different types of medical reports, medical terminology and common language/abbreviations, the structure of the medical history and physical, and other aspects of a patientfs medical record. Practice reviewing patient chart information, identifying pertinent information, and synthesizing/summarizing the information into a concise, practical written summary useful for presentation in a genetics encounter.

    7. Understand the importance and use of a pedigree in a clinical genetics assessment.

    8. Familiarity with position statements and practice guidelines that summarize standard of care for various common genetic syndromes and other aspects of clinical genetics practice (including ACMG position statements, newborn screening ACT sheets, AAP and other health supervision guidelines). Be aware of the existence of consensus guidelines for both diagnosis and management of many syndromes. Know where to find such position statements and guidelines.

    9. Become familiar with common birth defects resulting from abnormal development, including causes, recurrence risk, treatment, and prevention if applicable.

    10. Identify the major clinical features of common chromosome disorders, including numeric chromosomal abnormalities identified via chromosome analysis and microdeletion/duplication syndromes identified via FISH or array comparative genomic hybridization.

    11. Demonstrate knowledge of the primary features and symptoms associated with single gene disorders, presented grouped by the body system most commonly, distinctively, and or profoundly affected (Categories: dermatologic, skeletal, connective tissue, renal, respiratory, ophthalmologic, cardiovascular, neurologic, endocrine, etc). Should include awareness of inheritance pattern, natural history of the syndromes, and aspects of management.

    12. Understand the clinical use and interpretation of different types of genetic testing technologies including cytogenetic and molecular genetic testing, including whole exome sequencing.

    13. Become familiar with prenatal genetic screening and testing options.

    14. Recognize causes of infertility, types of assisted reproductive technology, the interface of reproductive endocrinology and genetics including preimplantation genetic diagnosis and preimplantation genetic screening (PGD/PGS)

    15. Overview of causes of recurrent pregnancy loss and genetics evaluation and counseling for those with recurrent pregnancy loss.

    16. Be aware of carrier testing options for recessive conditions, including ethnicity and population-based carrier screening.

    17. Understand the variety of inheritance patterns present in human genetic disease including Mendelian inheritance and non-Mendelian inheritance (specifically should feel comfortable with the concepts of epigenetics and imprinting, uniparental disomy, trinucleotide repeat disorders, and mitochondrial disease and inheritance)

    18. Develop familiarity with biochemical genetic (metabolic) syndromes, including the metabolic evaluation, newborn screening, symptoms and natural history of different types of biochemical disorders, and treatment of biochemical disorders.

    19. Be able to discuss ethical and genetic counseling challenges of testing presymptomatic individuals for genetic disease, including the history of direct to consumer testing. Thoughtfully consider the future of presymptomatic genetic screening and direct to consumer testing, and the genetic counselorfs role in interpretation of this testing.

    20. Become familiar with current understanding of the genetics of common diseases, including diabetes, psychiatric illness (depression, schizophrenia), and cancers.

    21. Give an effective, articulate, and thoughtful educational presentation about a genetic syndrome and write a complete and concise summary of the information presented.

    22. Be able to identify key features of a genetic diagnosis and summarize this information in writing using language appropriate for a non-scientific / non-medical audience (appropriate for patients and families).

    B. Learning Outcomes

    Demonstrate and utilize a depth and breadth of understanding and knowledge of genetics and genomics core concepts and principles: a) In specific content areas:

    Mendelian and non]Mendelian Inheritance; Basis of human variation and disease susceptibility; Normal /abnormal human development

    Personalized genomic medicine; Cytogenetics; Biochemical Genetics; Molecular Genetics and Genomics; Cardiovascular Genetics; Pediatric Genetics; Prenatal Genetics; Adult Genetics; Cancer Genetics

    Neurogenetics; Psychiatric Genetics.

    Clinical features and natural history of broad range of genetic diseases, complex common disorders, & syndromes of unknown etiology.

    The diagnostic process including dysmorphology, syndromology, physical assessment, and differential diagnoses.

    Modalities, methods, and self]study of cytogenetic, molecular and biochemical tests, including new/emerging technologies (microarray, high throughput screening, whole exome/genome sequencing).

    Use of genetics literature, bioinformatics, and computerized tools.

    Demonstrate and utilize a depth and breadth of understanding and knowledge of genetics and genomics core concepts and principles: b)Apply this knowledge and understand how it contributes to etiology, clinical features, natural history, differential diagnoses, genetic testing and test report interpretation, pathophysiology, recurrence risk, management and prevention, and population screening.

    Elicit and assess pertinent information relating to medical, developmental, pregnancy and psychosocial histories Extract pertinent information from the medical record.

    Identify assess, facilitate, and integrate genetic testing options in genetic counseling practice. Evaluate and assess laboratories and select most appropriate one. Interpret clinical implications of test results.

    Assess individualsf and relatives probability of conditions with a genetic component or carrier status based on pedigree, test results, and other pertinent information.

    Identify and introduce research options when indicated in compliance with applicable standards.

    Identify and provide clients with appropriate resources, services and support.

    Synthesize information obtained from the literature review to utilize in encounters. Incorporate literature into evidence]based practice, recognizing gaps and limitations.

    Act in accordance with ethical, legal, and philosophical principles and values of the genetic counseling profession and the policies of onefs institution or organization.

    Distinguish the genetic counseling scope of practice in relation to the roles of other health professionals.

    Incorporate results from tests to provide accurate risk assessment.

    Evaluate familial implications.

    Demonstrate the skills necessary to successfully manage a case: Management plan with case prep & follow up.

    Document and present encounter clearly and concisely, orally and in writing, in a way that is understandable and meets standards.

    Demonstrate familiarity with the healthcare system as it relates to genetic counseling practice including relevant privacy regulations, referral and payment systems.

    Population]based screening (newborn screening, carrier screening).

    Health and social policy.

    Effectively give a presentation on genetics, genomics, and genetic counseling issues:

    -Assess and determine educational goals and learning objectives based on the needs and characteristics of the audience.

    -Develop an educational method or approach that best facilitates the educational goals of the presentation and considers the characteristics of the audience.

    -Present using a delivery style that results in effective communication.

    -Assess onefs own teaching style and use feedback or other outcome data to refine future encounters.

    Write concise and understandable clinical and scientific information for audiences of varying educational backgrounds.

    C. Major Topics

    Principles of Dysmorphology and Physical Assessment; Normal Human Development (overview); Sequences/Associations/Disruptions; Medical Genetics team and practice settings; Navigating the Medical Record; Review of Genetic Testing used in Clinical Practice and Results Interpretation; Cytogenetics and Chromosome Anomalies; Submicroscopic chromosomal syndromes: microdeletions and duplications; Multifactorial Disorders/Birth Defects; Single Gene Disorders: Skeletal and Connective Tissue; Single Gene Disorders (1) Ocular Disorders, (2) Hearing Loss, (3) Renal; Single Gene Disorders: (1) Skin, (2) DNA Repair Disorders; Single Gene Disorders Associated with Population-based or Ethnicity-based Carrier Screening: Cystic Fibrosis, Hemoglobinopathies; Spinal Muscular Atrophy Type 1, 2 Overview of Carrier Screening including Population-base, Ethnicity-based Panels, Limitations, Timing; Single Gene Disorders: (1) Endocrine, (2) Autoimmune, (3) Pulmonary, (4) Gastrointestinal, (5) Hematologic, (6)Psychiatric; 1. Review of Cancer: Molecular Genetic Aspects / Germline Mutations and Cancer, 2. General Medical Overview: Breast Cancer, Ovarian Cancer, Colon Cancer, other cancers

    3. Hereditary Cancer Syndromes other than those primarily associated with Breast or GI cancer; Hereditary Breast Cancer Syndromes; Hereditary Colon Cancer Syndromes; Prenatal Genetics: Prenatal screening and testing – Including NIPS (cell-free fetal DNA), 1T screen, 2T screen, amnio, cvs, ultrasound, prenatal karyotype, prenatal array, prenatal targeted/single gene testing; Prenatal Genetics:1. Infertility, ART/IVF, PGD/PGS

    2. Recurrent miscarriages; overview of causes; balanced chromosome anomalies and genetic counseling; Neurogenetics; Cardiogenetics; Asymptomatic Individuals for Genetic Disease; Overview of Biochemical Syndromes / Pathways, Metabolic Screening Labs, and Newborn Screening; Specific Metabolic Syndromes and their Treatment: Amino Acidopathies, Organic Acidopathies, Fatty Acid Oxidation Disorders; Specific Metabolic Syndromes: Urea Cycle Disorders; Congenital Glycosylation Disorders; Neurotransmitter Disorders; Disorders of Copper transport / metabolism; Storage Diseases: Lysosomal Storage Diseases; Mitochondrial Disease and Inheritance; Trinucleotide Repeat Disorders; Imprinting and Uniparental Disomy.

    D. Textbooks


    E. Course Readings, Online Resources, and Other Purchases


    F. Student Expectations/Requirements and Grading Policy

    15% Pre- and Post-class Assignments (Points will be deducted for incomplete work or work that displays lack of effort or understanding. Quizzes will be graded with the same scale as other exams in the class. The online quizzes are open-book, open-note assessments. – 15 possible points (one point per assignment; for quizzes, A = 1 point, B = 0.5 points, C or below = 0 points)

    20% Midterm Exam – 20 points

    30% – Final Exam- 30 points

    15%- Participation – 15 points

    20%- Syndrome Presentation and Paper – 20 points

    Total points = 100

    A = 100-89.5%

    B = 89.49-79.5%

    C = 79.49-69.5%

    D = 69.49-59.5%

    F =

    G. Assignments, Exams and Tests

    1. Pre- and Post-class assignments

    2. Midterm Exam

    3. Final Exam – Comprehensive (covers full semester)

    4. Participation:

    o Active participation in discussions

    o Respect for peers and provision of appropriate feedback

    o Attendance: Chronic tardiness (more than 2 times) and/or unexcused absence will result in a reduction in final class participation points

    5. Syndrome Presentation and Paper

    H. Attendance Policy

    Course Attendance at First Class Meeting – Policy for Graduate Students: For structured courses, 6000 and above, the College/Campus Dean will set the first-day class attendance requirement. Check with the College for specific information. This policy is not applicable to courses in the following categories: Educational Outreach, Open University (TV), FEEDS Program, Community Experiential Learning (CEL), Cooperative Education Training, and courses that do not have regularly scheduled meeting days/times (such as, directed reading/research or study, individual research, thesis, dissertation, internship, practica, etc.). Students are responsible for dropping undesired courses in these categories by the 5th day of classes to avoid fee liability and academic penalty. (See USF Regulation – Registration - 4.0101,

    Attendance Policy for the Observance of Religious Days by Students: In accordance with Sections 1006.53 and 1001.74(10)(g) Florida Statutes and Board of Governors Regulation 6C-6.0115, the University of South Florida (University/USF) has established the following policy regarding religious observances: (

    In the event of an emergency, it may be necessary for USF to suspend normal operations. During this time, USF may opt to continue delivery of instruction through methods that include but are not limited to: Blackboard, Elluminate, Skype, and email messaging and/or an alternate schedule. Itfs the responsibility of the student to monitor Blackboard site for each class for course specific communication, and the main USF, College, and department websites, emails, and MoBull messages for important general information.

    I. Policy on Make-up Work

    All late assignments will be assessed a penalty of 1 point per day. Failure to complete any assignment will not be considered an excuse for being assigned an "I" grade in the course. Exceptions to this policy will be made only in the case of severe illness, documented family emergency, or similar problem.

    Disruption of the academic process and violations of the policies regarding academic integrity will not be tolerated. Review USF policies on Disruption of the Academic Process and the Academic Integrity of Students at:

    Plagiarism will not be tolerated and is grounds for failure. Review USF Academic Dishonesty and Disruption of Academic Process Policy at:



    The University of South Florida has an account with an automated plagiarism detection service (Turnitin), which allows instructors and students to submit student assignments to be checked for plagiarism. I (the instructor) reserve the right to 1) request that assignments be submitted as electronic files and 2) submit studentsf assignments to Turnitin, or 3) request students to submit their assignments to Turnitin through the course site. Assignments are compared automatically with a database of journal articles, web articles, the internet and previously submitted papers. The instructor receives a report showing exactly how a studentfs paper was plagiarized.

    NOTE: An institution may not release a paper to a plagiarism detection software without the studentfs prior consent unless all personally identifiable information has been removed, such as a studentfs name, social security number, student number, etc.. Note that a paper/essay is considered an educational record and an institution may not ask a student to waive their rights under FERPA for the purpose of submitting papers to a plagiarism detection software.

    For more information about Plagiarism and Turnitin, visit:

    Plagiarism tutorial:


    J. Program This Course Supports

    Master of Science in Public Health (MSPH) Genetic Couseling

  5. Course Concurrence Information

    Master of Science in Public Health (MSPH)

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