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Genetic and Genomic Testing Outside of Clinical Care: Changing Paradigms for Access, Application & Understanding - R. Rodney Howell Symposium
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Genetic and Genomic Testing Outside of Clinical Care: Changing Paradigms for Access, Application & Understanding - R. Rodney Howell Symposium

(Previewing required of presentations prior to webinar and learner engagement ~70 minutes)

*Click on the Course tab to review the recordings and click on Q&A to send in questions prior to the webinar. 

Friday, June 5, 2020

1:00 pm – 2:00 pm ET


The exponential growth in our ability to generate and analyze genetic data, combined with the demand for patient-driven medical care has raised a host of societal issues surrounding the use of genetic information. As with other types of medical care, genetic testing has traditionally occurred in the realm of medical genetic professionals trained to protect patients from harm that could arise from the misuse of their genetic information. Testing has been provided predominately in the form of diagnostic evaluations and screening grounded in the best available scientific data and evidence, and subject to prevailing standards of protection, such as doctor-patient confidentiality practices and medical regulations such as HIPPA and GINA.


Increasingly, however, other forms of testing have emerged that reside outside of the domain of the health care system. Examples of these emerging applications of genetic data outside of the physician-ordered historical norms include direct-to-consumer diagnostics, genetic entertainment/education, forensic testing, disability/life insurance and various emerging models for population genomic health and screening. The growing field of personalized medicine and the shift in the physician-patient relationship toward a more equal partnership is changing the climate of health care.


The growth of the medical genetics profession has been outpaced by both the expansion in available genetic testing and changes in modes of health care delivery. As the representative voice of the medical genetics profession, we must recognize the changing landscape of genetic testing, acknowledge the rights of individuals to access their own genetic data, address the ethical issues at hand, and work to facilitate the delivery of genetic information in the best possible manner to all individuals in the population.


This session will address four broad questions about the dynamic and complex social, ethical and legal landscape for genetic testing being done outside of the domain of established medical genetics and genetic counseling practice: 1) What is it about our current genetics health care system that is enabling or driving the demand for testing that resides outside of established practice? 2) Are there benefits to patients and their families that use less orthodox approaches to genetic testing in lowering barriers and increasing access to genetic information? 3) What harms accrue from such testing under less tight regulation and greater informality governing privacy protections with such testing? 4) How can we act to facilitate the democratization of these potentially powerful technologies in ways that maximize value and minimize harm in an ethical and socially just manner?


Speakers with deep levels of expertise have been chosen from differing perspectives to broadly represent the spectrum of social, ethical and legal considerations from current public and professional discourse.


Target Audience

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice.


  • Welcome and Introductions - Theresa A. Grebe, MD
  • Competing Cultural Values Surrounding the Quest for Genetic Knowledge - Leslie G. Biesecker, MD
  • Consumer Genomics, Then and Now- Jill Hagenkord, MD
  • Consumer Directed Testing: a Clinician’s Perspective - John C. Carey, MD, MPH
  • Individual Access to Genomic Data & Results: Ethical, Legal & Societal Issues - Susan M. Wolf, JD
  • Health Justice in a Genomic Era: The Role of Democratic Deliberation - Erika Blacksher, PhD
  • Closing Remarks - Robert G. Best, PhD
  • Panel


Learning Objectives

At the conclusion of this session, participants should be able to:

  1. Identify the multiple types and applications of direct-to-consumer genetic testing options that exist in the public realm and the multiple settings in which they are utilized.
  2. Examine the gaps in gaps in prevailing protections for genetic privacy across the full spectrum of genetic data applications in our society.
  3. Identify ways to develop robust privacy protections where they are lacking.
  4. Discuss the rights of individuals in a democracy to receive their own genetic/genomic data outside of a traditional healthcare setting.
  5. Explain potential challenges of health practitioners in understanding HGVS nomenclature
  6. Recognize the limitations that current health care regulations/structures pose on genetics professionals that prevent them from playing a greater role in the dissemination of genetic information to the public.
  7. Develop open lines of communication between direct-to-consumer genetic testing companies and community of genetics providers to facilitate education of the public about genetic information.
  8. Analyze the role of genetics professionals with respect to wellbeing within the public sphere in the absence of a direct doctor-patient relationship.
  9. Discuss the role of genetics professionals in educating other health providers who utilize genetic testing in their practices.