Background

As genomic information is used more routinely in healthcare, genetic specialists, such as genetic counselors, are challenged to meet the needs of a rapidly expanding patient population. Genetic counselors routinely disclose genomic test results and are trained to help patients understand complex genomic information. However, the workforce is limited and will not be sufficient to meet growing demand – there are only about 4,000 genetic counselors in the United States. While technological solutions could be leveraged to provide greater access to genetic counselors, there are a dearth of applications designed specifically to support result disclosure. Furthermore, genomic information needs to be rendered accessible to individuals of varying health literacy levels and English-language fluency. GUÍA addresses these problems by providing genetic counselors with a platform specifically designed to enhance the communication of complex genomic information in a visual and narrative manner and in both English and Spanish.

Technology Overview

GUÍA (Genomic Understanding, Information & Awareness) is a web-based application to facilitate the delivery of genomic test results and related clinical information to patients and their families. GUÍA means ‘guide’ in Spanish because the application enables providers to ‘guide’ patients through the distinct components of their results. The web-based application consists of 9 distinct pages with sub-tabs to access educational modules, primary and secondary genomic results, inheritance information and resource links. GUÍA allows highly technical information to be communicated in an understandable, personalized, and digestible manner. GUÍA is currently available in English and Spanish ().

Stage of Development

GUÍA is currently available in both English and Spanish (examples in A and B). A prototype is being tested as part of the NYCKidSeq clinical trial (https://nyckidseq.org/). The utility of GUÍA to improve parental outcomes is being investigated through a clinical trial where participants across a variety of clinical settings are randomized to genetic counseling using GUÍA versus traditional genetic counseling.
GUÍA was piloted in clinical settings with 18 parents of children enrolled in the pilot phase of the NYCKidSeq clinical trial. Parents were interviewed after their child’s genomic results were returned using GUÍA. Parents responded positively to the use of GUÍA to deliver their children’s results, all parents with previous experience with genetic testing felt GUÍA improved result disclosure, and the majority of parents said the content was clear.

Benefits

Increased access to genetic counseling by: 1) saving genetic counselor’s time, and 2) using as a telehealth platform
Supports patient understanding of genomic test results and next steps for clinical care
Prototype available
Obtained very positive feedback from the first group of parents with children with genetic diseases

Applications

A scalable digital tool to facilitate genetic counseling
Telehealth platform for delivering genetic counseling
Enhanced understanding between genetics and disease can improve treatment outcomes

GUÍA (Genomic Understanding, Information & Awareness application)