Course Descriptions

F I R S T  Y E A R  C O U R S E S

GENC 601 - Advanced Genetics and Genomics

This course will provide an extensive survey of molecular genetics including molecular and cellular biology and the regulation of gene expression. Applications to human clinical genetics through discussion of relevant case studies will be incorporated. The content of this course will facilitate an understanding of the application of concepts in molecular biology to genetic testing and diagnosis. Students will develop the necessary background knowledge to understand topics covered in additional courses in the genetic counseling master's program including Foundations in Clinical Genetics, Cancer Genetics, Reproductive Genetics, and Medical Genetics.

Taught by: Laura Conway, PhD, LCGC

Course usually offered in fall term.

1.0 Course Unit

GENC 602 - Mechanisms of Disease

Primary concepts in this course introduce the fundamental principles of developmental genetics, normal and abnormal embryological development. Development is covered by major organ system. Normal as well as abnormal physiology in all systems will be reviewed. The focus of the course will be on understanding the pathophysiology of human genetic diseases. The coursework serves as the background for understanding specific diseases as they present in clinical genetics and research that has led to improved therapy and treatment for patients. The class will be primarily lecture-based using case-based learning.

Taught by: Lewis Waber, MD, PhD

Course usually offered in fall term

1.0 Course Unit

GENC 603 - Introduction to Genetic Counseling

Genetic counseling students will be oriented to the profession through a review of the history of genetic counseling. Topics covered include medical terminology, the structure of genetic counseling sessions, discussion of the scope of practice and disability rights, instruction in obtaining family pedigrees, review of genetic testing practices, and the National Society of Genetic Counselors' Code of Ethics and Scope of Practice. Students will gain an appreciation for the lived experience of individuals with genetic diseases by reading novels and memoirs, reviewing online support groups, watching videos and performing role plays. The course will provide experiential learning about advocacy groups for patients and their families through first-hand interviews. Students will engage in role play scenarios throughout the course.

Taught by: Kathleen Valverde, PhD, LCGC

Course usually offered in fall term

1.0 Course Unit

GENC 604 - Reproductive and Developmental Genetics

A variety of topics in reproductive genetics will be covered in this course. Topics include a review of human development from gametogenesis and fertilization to organogenesis, emphasizing the genetic basis of these complex events and how teratogenic factors lead to abnormal development. The common indications for prenatal genetic counseling, including advanced maternal age, first-trimester screening, NIPS, ultrasound anomalies, diagnostic procedures, and prenatal complications, will be reviewed. Through the completion of assignments and role plays, students will demonstrate their abilities to critically think through cases, assess risk, and provide patient- centered care. The course will discuss psychosocial issues surrounding fertility counseling as well as perinatal bereavement and palliative care.

Taught by: Rose Giardine, MS, LCGC, and Erica Schindewolf Bobenchik, MS, LCGC

Course usually offered in spring term

1.0 Course Unit

GENC 611 - Cancer Genetics

In this course, students will gain an understanding of cancer genetics. Topics covered include an overview of cancer biology and clinical oncology; diagnostics and predictive testing in cancer, including familial mutations in BRCA 1 and 2, and panel testing; cancer risk assessment; psychosocial aspects of cancer genetic testing and counseling. Students will examine specific inherited disorders predisposing individuals to malignancies and of counseling for familial cancers. Students will learn how to conduct a genetic counseling session for inherited cancer syndromes such as HBOC and Lynch syndrome and to identify when genetic testing panels are indicated. In addition, the course will cover somatic cancer NGS technology and its relevance in cancer genetic counseling.

Taught by: Dana Farengo Clark, MS, LCGC; Danielle McKenna, MS, LCGC; and Jacquelyn Powers, MS, LCGC

Course usually offered in spring term

1.0 Course Unit

GENC 612 - Genetic Counseling Theory and Practice I

Students will learn the basic organization of a genetic counseling session including contracting, building rapport and eliciting patient goals in a patient encounter. Active listening and interviewing skills will be taught to allow students to respond empathically to patient concerns. Through lectures and various activities such as role play, students will demonstrate their abilities to organize a genetic counseling session. Students will learn to write encounter notes, patient and physician letters, and letters of medical necessity. Instruction to adapt genetic counseling service delivery using telephone genetic counseling and telegenetics models will be provided. Each student will be responsible for reviewing a Genetic Counseling Practice Guideline and sharing its content with the class. Students will gain an appreciation of appropriate professional interactions and expand their understanding of the impact of genetic disease on families. At the end of the semester, all students have the opportunity to complete a genetic counseling session with a standardized patient. Students work with the Experiential Learning and Assessment Center at the Perelman School of Medicine. The highly skilled staff ensures safe, measurable, and authentic learning with qualified standardized patients.

Taught by: Lisa Kessler, MS, LCGC

Course usually offered in spring term.

1.0 Course Unit

GENC 613 - Foundations of Clinical Genetics and Genomic Technologies

In this course, students learn how genetic and molecular principles contribute to the etiology, clinical features, and expression of genetic conditions. They will appreciate how the natural history and variable expressivity of a variety of genetic diagnoses influence differential diagnoses, interpretation of dysmorphology, choices of genetic testing, and test report interpretation. Students will understand the importance of conveying to families the pathophysiology, inheritance pattern, recurrence risk, and management of genetic disorders. In this class, students will learn the principles of pedigree review and Bayesian analysis. The concepts and tools used to analyze and interpret data from next-generation sequencing (NGS) will be discussed, including the nature of mutations and variant analysis. This class will provide students with hands-on opportunities to utilize databases to systemically review and classify variants. Clinical case variant interpretation and clinical relevance will be discussed in terms of its importance in genetic counseling. Case-based learning will help students understand the complexities of genetic diseases and the importance of obtaining an accurate medical history.

Taught by: Cara Skraban, MD; Laura Conway, PhD, LCGC; Elizabeth DeChene, MS, LCGC; Livija Medne, MS, LCGC; and Matthew Dulik, PhD

Course usually offered in fall term

1.0 Course Unit

GENC 614 - Introduction to Genetic Counseling Research

This course will familiarize students with research methodologies in clinical genetics. Students will gain an appreciation for the importance of well-designed research in advancing our understanding of diseases and how best to practice in genetic counseling. Topics include how to formulate testable hypotheses, design appropriate studies, and carry out an appropriate literature review. This course will introduce students to scientific writing and interpretation of the literature. Other topics covered include the IRB process, research ethics, and informed consent, which prepare students to conduct their own research projects. They will be required to obtain CITI training and to work with their thesis committees as they develop their proposals. Students will develop and refine their own IRB proposals before submitting an application to the IRB committee.

Taught by: Laura Conway, PhD, LCGC

Course usually offered in spring term

1.0 Course Unit

S E C O N D  Y E A R  C O U R S E S

GENC 620 - Medical Genetics I

This year-long course presents a broad overview of concepts in medical genetics including natural history, management and counseling strategies for major pediatric and adult genetics diagnoses and syndromes. The first semester focuses on Genomic Medicine and Pediatric Genetics. Topics covered include autism, ophthogenetics, hearing loss, psychiatric genetics, genodermatoses, immune genetics, pediatric cancer genetics, bone marrow failure syndromes, differences of sex development, craniofacial disorders, skeletal dysplasias and imprinting disorders. Students will be exposed to future directions of clinical genetics and genetic counseling and its impact on the management and treatment of common conditions. Course directors will attend each class, and guest lecturers with relevant clinical expertise will be invited to share their clinical knowledge.

Taught by: Ian Krantz, MD; Sarah Raible, MS, LCGC; Holly Dubbs, MS, LCGC, and Tanya Bardakjian, MS, LCGC

Offered in the fall term.

0.5 Course Unit

GENC 621 - Genetic Counseling Theory and Practice II

In this class, students are taught the basic tenets of counseling theory and how they can be applied to genetic counseling sessions. Theories covered include person-centered counseling with its emphasis on genuineness, empathy and positive regard. Narrative Medicine will be covered in detail and students will be required to digitally record a narrative medicine interview with an individual or parent of a patient with a genetic disease. The recordings are then analyzed and critiqued. Standardized patient assessments will be performed to monitor students' acquisition of more advanced counseling skills. Students will learn the integration of process in the genetic counseling session and to address sensitive patient issues. They will learn to use active listening and value-free communication to manage a genetic counseling session in a culturally responsive manner.

Taught by: Kathleen Valverde, PhD, LCGC

Course usually offered in fall term

1.0 Course Unit

GENC 622 - Biochemical Genetics

This course presents a broad overview of concepts in metabolic and mitochondrial disorders as well as detailed reviews of specific conditions so that students will learn to distinguish the basic descriptors of a wide variety of metabolic conditions, including cardinal features, biochemical signatures, genetic etiologies, inheritance patterns, and available treatments. Students will also understand the basis for, and implications of, newborn screening for both metabolic and other disorders. Students will learn the methods available for diagnosis, genetic and tissue based testing, and various forms of treatment of metabolic and mitochondrial disorders, from nutrition therapy and transplants to clinical trials.  Approaches to appropriately counsel families with a wide range of metabolic conditions and to identify at-risk family members are included in this course.  Course directors will attend each class, and guest lecturers with relevant clinical expertise will be invited to share their clinical knowledge.

Taught by: Colleen Muraresku, MS, LCGC, and Elizabeth McCormick, MS, LCGC

Course usually offered in fall term

0.5 Course Unit

GENC 623 - Ethical Issues in Genetic Counseling

In this introductory course on bioethics, the content will be tailored to issues that emerge in the context of clinical genetics and genetic research. Though hospital ethics boards advise on the most challenging ethical cases, they often play the simple but crucial role of slowing the conversation down, asking questions of team members, and facilitating calm, reasoned communication regarding the ethical quandaries that staff members pose. Accordingly, this course is taught from the perspective of narrative ethics, which represents moral choice within the detailed context of specific scenarios comprised of characters, motivations, and circumstances. This course will establish and maintain a space where students can develop clinical reasoning skills to consider the major bioethical principles as they relate to specific ethics cases. Class time will be devoted to short lectures and selected video excerpts, individual and group presentations and debates, and extensive discussion guided by a compendium of ethics cases and associated reading assignments that represent the diverse perspectives of different authors.

Taught by: Rebecca Mueller, MS, LCGC

Course usually offered in fall term

1.0 Course Unit

GENC 630 - Medical Genetics II

This year-long course presents a broad overview of concepts in medical genetics including natural history, management and counseling strategies for major pediatric and adult genetics diagnoses and syndromes. Topics covered this semester include single gene disorders, bleeding and clotting disorders, hemoglobinopathies, adult liver disease, sex chromosome anomalies, connective tissue disorders, cardiovascular genetics, psychiatric genetics, neurogenetic conditions such as epilepsy, movement disorders, ataxias, Huntington disease, and ALS,  as well as classic genetic conditions identified by the organ system involved, such as cystic fibrosis. Students will learn the methods available for genetic testing, diagnosis, and treatment of genetic conditions. They will also be exposed to future directions of clinical genetics and genetic counseling and its impact on the management and treatment of common conditions. Therapeutic approaches and different modalities to treating genetic diagnoses will be reviewed, including approved gene therapy treatments as well as investigational therapies and clinical trials. Course directors will attend each class, and guest lecturers with relevant clinical expertise will be invited to share their clinical knowledge.

Taught by: Ian Krantz, MD; Sarah Raible, MS, LCGC; Holly Dubbs, MS, LCGC, and Tanya Bardakjian, MS, LCGC

Offered in the spring.

1.0 Course Unit

GENC 631 - Genetic Counseling Theory and Practice III

This course provides students with advanced counseling skills such as advanced empathy and confrontation. Students will also explore counseling theories such as solution-focused brief therapy, cognitive behavioral therapy, and family systems models. Discussions regarding counselor issues such as self-disclosure and countertransference will be explored in detail. Additional skills and techniques from the counseling literature will be practiced in role plays to illustrate the usefulness of various counseling techniques in clinical genetics. This course includes an experiential component for the practice of techniques utilizing standardized patients. Students will analyze their standardized patient recordings and identify missed opportunities and areas in which they need to work on their counseling skills. Each student will analyze a case that they were involved with utilizing at least two theories discussed in class.

Taught by: Kathleen Valverde, PhD, LCGC

Course usually offered in spring term

1.0 Course Unit

GENC 990 - Master's Thesis

This is an independent study course with a strong emphasis on writing. Students conduct their research, gather data, analyze it and develop their written proposals. Each student will meet regularly with his/her primary thesis mentor and committee to complete his/her project. Students will be required to submit an abstract to a professional meeting and encouraged to prepare a manuscript for publication.