Speaking Genomics

     with Patients

What is GUÍA?

GUÍA is a web-based communication app that personalizes the patient experience of receiving genetic and genomic test results.

Created by seasoned genetics professionals and built on feedback and in-depth research with patients, GUÍA allows patients to interact with their genetic test results in a way that makes their data easier to understand and caters to diverse learning styles and needs.

GUÍA is currently available in English and Spanish languages. 

Why we made GUÍA

We as genetic counselors and physicians recognize that genetic testing can be complicated. We want to help patients understand what their genetic test results mean for them, for their children, and for other family members. With GUÍA, we break down genetic test results into their central components, including:

  • What genetic variants were identified
  • What is the genetic condition
  • What the results mean for clinical care and management
  • How the genetic condition was inherited
  • Who in the family is recommended to be tested
  • What to do next (e.g., follow up with a genetics provider or other specialists)

Most of all, we want families to feel comfortable with and capable of using their own genetic test results. GUÍA makes it easier for patients to relate to their genetic test results.

The GUÍA Experience

After piloting GUÍA with research study participants, we asked families to share their reactions to receiving genomic sequencing results with GUÍA:

How GUÍA Works

GUÍA allows providers to create customized summaries of genetic test results for their patients.

It was designed to be used with all categories of results: positive, negative, and uninformative. By using an intuitive, easy-to-follow online entry form, providers input patient-specific information such as details of the genetic result, medical condition, inheritance pattern, and the provider’s management recommendations. With this information, GUÍA builds a personalized and interactive summary of a patient’s genetic test results that presents results in lay terms, interspersed with explanations, and provides links to explore more detailed explanations or scientific content.

GUÍA has even been adapted for use in telehealth. Printouts or PDFs of GUÍA can be provided to patients as a companion to their lab reports and to share with family and other healthcare providers.

In Person

Providers can access and share GUÍA with patients at the point of care using multiple platforms, including PCs, laptops, and tablets.

Example of using GUÍA for telehealth


GUÍA has been adapted for use in telehealth. Printouts or PDFs of GUÍA can be provided to patients as a companion to their lab reports, and to share with family and other healthcare providers.

Personalization screen capture


Providers input patient information to create visually appealing, interactive summaries of patients’ genetic test results.

Education screen capture


Educational modules built into each GUÍA report make genetics concepts easy to understand.

Dual language screen capture

Dual Language

GUÍA is designed to display patients’ genetic test results in their preferred language.

GUÍA is Evolving

We are continually enhancing and expanding the utility of GUÍA for use in a variety of healthcare settings.


Stay up-to-date on new developments in GUÍA via our mailing list.

Let’s Get in Touch

Whatever types of questions you have, feel free to ask.


PROJECT LEAD:  Sabrina A. Suckiel, MS, CGC 

GUÍA was built by an amazing team of people: download our paper from Genetics in Medicine.

Funds for the development of GUÍA were provided by the National Human Genome Research Institute and National Institute for Minority Heath and Health Disparities of the National Institutes of Health under Award Number 1U01HG0096108.

Photos from Unsplash.com by Christina@wocintechchat.com and Gift Habeshaw

© Icahn School of Medicine at Mount Sinai 2019