Protecting Patient Confidentiality in a Family-Based Care Model: Ethical and Legal Considerations

Webinar overview

Description

As clinical genetics advances, so is the understanding of a variety of genetic cardiovascular disease including inherited arrhythmias. Inherited cardiovascular disease presents with a wide range of symptoms including sudden cardiac death in some cases. When a pathogenic or likely pathogenic variant is identified in a proband with an inherited arrhythmia, relatives are advised to consider cascade genetic testing to enable early detection, optimizing opportunity for prevention and treatment of the inherited arrhythmia in the family. This process of testing at-risk relatives for genetic predisposition to a genetic condition is termed “cascade testing.” While multiple studies have examined the uptake of cascade testing for inherited cardiac conditions in recent years, cascade testing is not routinely facilitated and communication within families at risk has been incomplete. Furthermore, there is a lack of recognition for the potential limitations of incorporating cascade testing into the care of patients and their families especially for unaffected children.

Recent recommendations from the American College of Cardiology and American Heart Association indicate that genetic testing should be offered to patients with a confirmed or suspected diagnosis of an inherited cardiovascular disease and or for at-risk family members. However, to optimize the impact and reach of cascade testing in a family unit, the risk of disease must be communicated timely and accurately to all at-risk relatives, a responsibility the often falls on the patient, but may also be aided by providers, as is routinely practiced by genetic counselors. Despite recommendations, multiple inherited arrhythmias remain underdiagnosed in the population, indicating the need to implement cascade screening into clinical practice more efficiently. One approach to increasing the effectiveness of cascade testing is shifting the care paradigm to a family-based approach. While focused investigations of the importance of family-based approaches to care for inherited conditions such as cancer have been conducted, to date, few studies have focused on the importance of a family-based care approach to inherited arrhythmias. While patient confidentiality should be maintained even in a family-based care model, this can still be protected with existing strategies for providing support for family communication. This session will highlight the importance and impact of cascade testing, examine the barriers and limitations of cascade testing, and introduce tools that can increase the uptake of cascade testing for inherited arrhythmias.