Topic

Presenter

Welcome and Introduction

Overview of PCORI and Potential Funding Opportunities (Dr. Meredith)

Stephanie Meredith, MA, DrPH

Overview of PCORI Project to Improve the Dissemination of Research to Black and Hispanic Parents o Children with Down Syndrome

Beth A. Pletcher, MD, FAAP, FACMG

Overview of Recommendations for Clinicians

Murugu Manickam, MD, MPH, FACMG

Topic

Presentation

Presenter

Welcome and Introduction

Tanya N. Eble, MS, CGC

Ethical Considerations in Genetic Testing for Critically Ill Minors: Navigating Consent, Assent, and Counseling

Bimal P. Chaudhari will address ethical issues that arise when counseling and obtaining consent for genetic testing in minors with a focus on the use of rapid genome sequencing in acutely and critically ill children.  The “best interest” standard will be introduced, followed by discussion of the difference between informed consent and juvenile assent, the relationship of beneficence and non-maleficence to the best interests standard and finally the ways in which directive but non-coercive genetic counseling may best meet the best interest standard for the care of children.

Bimal P. Chaudhari, MD, MPH, FACMG

Navigating Ethical Boundaries: Privacy, Confidentiality, and Patient Autonomy in Family Healthcare Dynamics

Tanya N. Eble will address issues related to privacy and confidentiality as well as patient autonomy through the exploration of a scenario in which a mother and daughter are seen separately by the same provider.  Protected health information will be defined, followed by a discussion of concepts of duty to warn, protection of patient privacy, and the right not to know. 

Tanya N. Eble, MS, CGC

Ethical Challenges in the Era of Comprehensive Genetic Testing: Managing Unexpected Genetic Results in Cancer Treatment Decision-Making

S. Malia Fullerton will address ethical issues related to the identification of unexpected (secondary, and related) genetic results that may accompany results of comprehensive gene panels or other forms of genome-scale testing, using a case based in testing to inform cancer treatment.  With pre-test genetic counseling increasingly unavailable in many specialist contexts, approaches to ensure adequate informed consent and, where appropriate, to manage follow-up of incidental findings, will be discussed.

Stephanie Malia Fullerton, DPhil