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Overview

Goal: To teach medical students about the ethical, legal and social issues related to genetics, especially genetic testing and counseling.

Professional Practice GapsThe National Human Genome Research Institute (NHGRI) and the National Coalition for Health Professional Education in Genetics (NCHPEG) have highlighted the need for more education about the ethical, legal and social implications (ELSI) related to genetic testing and counseling.

Educational Objectives:

After completing this activity participants will be able to:
  • Recognize the indications for a diagnostic genetics evaluation and the profound impact a genetic diagnosis can have on the family.

  • Recognize that most human disease is the result of complex interactions between genetics and environment and determine the relative contribution of these factors to define occurrence likelihoods and appropriate preventative measures.

  • Facilitate the safe and responsible participation of their patients in clinical research, understanding the relationship between basic science, biomedical research and clinical application as it pertains to medical genetics.

Authors

As an ACCME accredited provider of continuing medical education, Clinical Tools, Inc.complies with the Standards for Commercial Support issued by the ACCME and requires disclosure of and resolution of any conflicts of interest for those in control of content.
Clinical Tools, MD, MD (Company, CTI)Clinical Tools, Inc. (CTI) is a small, physician-run business dedicated to harnessing the potential of the Internet to create scalable, usable, and broadly available tools to improve the ability of physicians and other health care providers to care for patients. We achieve this goal by providing education and training to students and professionals and creating Web-based support tools for clinicians, researchers, and consumers. Information technology can and should serve as a stable framework that supports researchers and clinicians in their roles. We provide dissemination and management tools that empower clinicians and consumers to understand and control the vast amount of information related to making individual health choices. We serve our clients creatively, effectively, and with the highest quality of service.
Disclosure: Has disclosed no relevant financial relationships.
Lisa Tuttle, MS, CGC (Genetics Writer, Freelance )Lisa Tuttle is a board-certified genetic counselor and works as a freelance genetics writer. She contributes content to and reviews Clinical Tools' online genetics continuing education courses for primary care physicians. Ms. Tuttle earned a bachelor's degree in biological sciences at Cornell University in 1995. She then earned a master's degree in genetic counseling from Brandeis University in 1997. She was certified by the American Board of Genetic Counseling in 1999. Prior to writing for Clinical Tools, Ms. Tuttle was a content writer for DNA Sciences, in partnership with WebMD. She was also the primary writer on several projects, including a website and brochure, for the Lysosomal Disease Center at the University of California at San Francisco. Ms. Tuttle also worked for three years as a clinical genetic counselor at a large, comprehensive genetics center in San Jose, California.
Disclosure: Has disclosed no relevant financial relationships.
Susan Schmerler, MS, CGC, JD (Genetic Counselor, St. Joseph's Regional Medical)Susan Schmerler wears several professional hats. Since 1974, she has worked in New Jersey as a genetic counselor and now supervises the section of genetics in her hospital. As an active member of NSGC, Ms. Schmerler took part in the development of the professional's Code of Ethics. In order to prepare for this responsibility, she attended the Bioethics Course at the Kennedy Institute and took a Humanities Fellowship. She is a member of her hospital's Ethics Committee. Concerned about the impact of the rapid advances and commercialization of genetics on individual rights, Ms. Schmerler earned a law degree in 1995. She teaches risk management and ethics to medical professionals.
Disclosure: Has disclosed no relevant financial relationships.

Reviewers

Lisa L Hall, PhD (Assistant Professor , University of Massachusetts Medical School)Dr. Hall is an Assistant Professor at the University of Massachusetts Medical School where she is the
Assistant Director for the Human Genetics course. Dr. Hall received her undergraduate degree in
Biology from Colorado College and her PhD in Genetics from the University of California-Davis. Dr.
Hall has worked on the ELSI project with Clinical Tools since 2004. Dr. Hall aided in the needs
analysis conducted with the Association of Professors of Human or Medical Genetics (APHMG)
membership regarding content and general interest in an online genetics course. She also helped
develop ideas about format and content of the online courses and helped to review the APHMG
Needs Assessment drafts and Case Plans. She is currently evaluating the individual ELSI online
courses created by Clinical Tools and assessing their compatibility with the curriculum at the
University of Massachusetts Medical School.
Disclosure: Has disclosed no relevant financial relationships.
Robert Best, PhD (Professor, Department of Obstetrics and Gynecology , University of South Carolina School of Medicine)After receiving a bachelor of science in biochemistry from Lehigh University, Bethlehem, Pennsylvania, Dr. Robert Best earned a master of science in toxicology and a Ph.D. in genetics and toxicology from North Carolina State University, Raleigh, North Carolina. Dr. Best initially came to the University of South Carolina School of Medicine in 1986 to pursue a fellowship in clinical cytogenetics and medical genetics, and to serve as Director of the MSAFP Screening Program. He joined the Department of Obstetrics and Gynecology faculty in 1987, becoming Director of the Division of Clinical Genetics in 1991. Board certified in clinical cytogenetics and medical genetics, he has special interests in prenatal diagnosis, screening during pregnancy and molecular cytogenetics. Dr. Best is involved in evaluating the content and assessment instruments used in the ELSI modules
Disclosure: Has disclosed no relevant financial relationships.
Cynthia Powell, MD (Associate Professor, Department of Pediatrics, University of North Carolina at Chapel Hill, School of Medicine)Dr. Powell received her medical degree from the Medical College of Virginia (Virginia Commonwealth University) in 1987 and in 1990 completed her pediatric residency at Children's National Medical Center in Washington, DC where she also did a fellowship in Medical Genetics in a combined program with the National Institutes of Health from 1990-1993. She is Board Certified in Pediatrics, Clinical Genetics and Cytogenetics and also in Genetic Counseling, having obtained her MS at Sarah Lawrence College and working for several years as a genetic counselor prior to entering medical school. In 1993, Dr. Powell joined the faculty of the University of North Carolina School of Medicine, Department of Pediatrics and became Chief of the Division of Genetics and Metabolism in 2004. She is an Associate Professor of Pediatrics and Genetics. She spends most of her time in patient care and teaching and is Director of the Medical Genetics Residency Program at UNC and also Medical Director of the Cytogenetics Laboratory at UNC Hospitals. Her clinical and research interests include cytogenetics, dysmorphology and the genetics of hearing loss. She currently has a grant from the CDC and AAMC to study genetic services for patients with hearing loss.
Disclosure: Has disclosed no relevant financial relationships.
Ruthann Pfau, PhD (Genetic Counselor, Wright State University)Ruthann Blough Pfau is a practicing genetic counselor and a clinical cytogeneticist. She has a background in biological sciences with a bachelor of science and a master of science from Wright State University and a PhD in medical and molecular genetics from Indiana University. After a fellowship in clinical cytogenetics from the Children's Hospital Research Foundation in Cincinnati, Ruthann became a regular instructor for the Genetics Summer Institute for Nursing Educators at University of Cincinnati. She has previously worked to develop distance-learning CME courses and educational modules for nurses with the Genetics Program for Nursing Faculty at Cincinnati Children's Hospital. She currently and teaches Human Genetics for Health Professionals at Wright State University.
Disclosure: Has disclosed no relevant financial relationships.
Brian Caveney, MD (Fellow, Occupational and Environmental Medicine, Duke University Medical Center)Dr. Caveney is currently a fellow in Occupational and Environmental Medicine at Duke University Medical Center. He also holds a law degree and just received his master's degree in public health with a concentration in health policy and administration from the University of North Carolina. He is interested in population-based preventive health care promotion programs including cost-effective screening protocols.
Disclosure: Has disclosed no relevant financial relationships.
Jennifer Farrior, MS, MS (Genetic Counselor, Freelance)Ms. Farrior is a board-certified genetic counselor. She earned a Master of Science degree in Biochemistry and Biophysics from the University of North Carolina and a Master of Science degree in Medical Genetics from Indiana University. She joined the Clinical Tools staff in April 2003. As Project Leader, she was primarily responsible for project management, curriculum development, and content development for online genetics education courses.
Disclosure: Has disclosed no relevant financial relationships.
Peter Curtis, MD (Clinical Professor of Family Medicine, University of North Carolina School of Medicine)Dr. Curtis is a family practitioner at the University of North Carolina, and he also serves as Principal Investigator of a $1.6 million National Center for Complementary and Alternative Medicine (NCCAM) grant titled, "Integrating CAM into Health-Professions Education in NC." The project proposes to accelerate the integration of CAM education into health-professions curricula, selected medical residency programs, and continuing education.
Disclosure: Has disclosed no relevant financial relationships.
Mary Kay Pelias, PhD, JDDr. Pelias is a lifelong resident of New Orleans, Louisiana. Her educational background includes undergraduate and graduate degrees in biology from Tulane University and a law degree from Loyola University. As part of her undergraduate training, Dr. Pelias studied at the Eberhard-Karls University in Tübingen, Germany, during which time she began her studies of the eugenics movement and the issues related to human experimentation and informed consent. These interests have persisted through graduate work in genetics and in the law as it relates to personal privacy and autonomy. Since 1976, Dr. Pelias has taught human and medical genetics and bioethics to graduate students and medical students at the Louisiana State University Health Sciences Center (LSUHSC). In 1996-1997, Dr. Pelias was awarded a sabbatical leave, supported by the American Association for the Advancement of Science, the American Society of Human Genetics, the US Department of Energy, and the LSUHSC. She served as a Congressional Fellow in the office of Senator Pete V. Domenici (R-NM), where she drafted and promoted federal legislation on genetic confidentiality and nondiscrimination. Dr. Pelias' scientific research interests have included a 23-year study of the genetics of deaf-blindness in southern Louisiana, as well as studies of breast cancer, metabolic diseases, and isolated hereditary syndromes. Her legal research includes interests in the physician-patient relationship, informed consent and disclosure, and genetics and geneticists in contemporary society. Dr. Pelias served on the Institutional Review Boards of the LSUHSC and the Louisiana Department of Health and Hospitals as well as on 2 legislative task forces that addressed questions of legislation on the assisted reproductive technologies and on a statewide birth defects registry. With respect to national professional organizations, Dr. Pelias was active for many years in the federal programs of the Council of Regional Networks for Genetics Services, particularly in the area of informed consent for newborn screening. She presently serves as chair of the Social Issues Committee of the American Society of Human Genetics and chair of the Social, Ethical, and Legal Issues Committee of the American College of Medical Genetics. More recently, she was chair of the Working Group on Genetics of the National Human Research Protections Advisory Committee, Office for Human Research Protections, of the US Department of Health and Human Services. In 2003, Dr. Pelias retired as Professor Emerita from her faculty position at the LSUHSC. She presently consults through her own business, GenELSI Consulting, Inc.
Disclosure: Has disclosed no relevant financial relationships.
Cecile Skryznia, MS, CGC (Assistant Professor, Genetic Counselor, University of North Carolina at Chapel Hill)Ms. Skrzynia is a board-certified genetic counselor specializing in cancer genetics. She is a member of the National Society of Genetic Counselors and the American Society of Human Genetics; she is also an associate member of the Lineberger Comprehensive Cancer Center in Chapel Hill, North Carolina.
Disclosure: Has disclosed no relevant financial relationships.
Denise Finneran Needham, MS, CGC (Genetic Counselor, Independent)Ms. Needham is a board-certified genetic counselor who worked at Clinical Tools from August 2003 until June 2005. She was responsible for managing and contributing content to online genetics education courses for both medical students and primary care physicians.
Disclosure: Has disclosed no relevant financial relationships.
Anthony Viera, ASN (Physician, Private Practice)Dr. Viera is a practicing family physician, holding his medical degree from the Medical University of South Carolina. He completed internship and residency at the Naval Hospital in Jacksonville, FL. In addition to teaching, his research interests include patient education related to hypertension. He is a second year Clinical Scholar in the Robert Wood Johnson Clinical Scholars Program at UNC-CH.
Disclosure: Has disclosed no relevant financial relationships.

Review Dates

Content Review:Editorial Review:
Thu, 9/17/2015Thu, 9/17/2015

Modules in this Training Activity

  • Genetics in Pediatrics: A Family Study of a Child With Multiple Congenital Anomalies

  • Genetics: Complex Inheritance: Genetics of Common Complex Disorders

  • Genetic Services and the Primary Care Provider

  • Genetics: The Medical Family History

  • Genetics: Introduction to Genetic Counseling

  • Genetic Testing in Clinical Practice

  • Genetics: Ethical and Legal Considerations in Genetic Testing

  • Genetics: Etiology of Sporadic and Hereditary Cancers

  • Genetics: Hereditary Breast and Ovarian Cancer Syndrome: Genetic Testing and Counseling

  • Genetics: Mini-Review of the Molecular Genetics of BRCA1/BRCA2

Module Practice Gap References
Association of Professors of Human and Medical Genetics, American Society of Human Genetics. Medical school core curriculum in genetics. ASHG Website. December 2001. Available at: http://www.ashg.org/pdf/Medical%20School%20Core%20Curriculum%20in%20Genetics.pdf Accessed on: 2004-06-15.
Core competencies in genetics essential for all health-care professionals. National Coalition for Health Professional Education in Genetics. 2000. Available at: http://www.nchpeg.org/ Accessed on: 2004-09-21.

Audience and Accreditation

Audience:

Medical students and residents

A letter of completion for up to 10 hour(s) is available for non-physicians.
A score of 70% on the post-test is required to complete the activity.
Participation Requirements

Activity Credit: Obtaining credit for participation in this activity requires that you complete the pre-assessments, work through the modules (including all in-module interactive activities), complete the post-assessments with a 70% score on the post-test, and then request credit. At the end of the activity, you will be instructed on how to print out a certificate for your records.

Time Requirement: Keep track of the amount of time it takes you to complete this activity. You will be required to spend a set amount of time in order to claim credit. You should claim credit only for the time actually spent in the activity.

Technical Requirement: To participate in this activity, you will need a computer, an Internet connection, and a Web browser. This activity requires Chrome, Firefox, and IE7 or higher.

Training Activity References
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FundingInitial development of this activity was supported by a grant from the National Human Genome Research Institute (#R25-HG02266), a grant from the National Heart, Lung, and Blood Institute (#R44-CA86720).