Carrier Testing Reports

Genetic carrier testing results are complicated. We typically don't have the expertise to understand our genetic results, let alone know what to do with them. In fact, the results are often too complex for our doctors to interpret.

Based on secondary and user research interviewing over 50 patients and clinical professionals, this framework is a proposed set of design guidelines for delivering digitized carrier testing results in a way that patients and clinicians can feel a sense of understanding and empowerment.

Report Examples

To exemplify the design guidelines and associated research findings, the most common carrier testing report types have been populated with synthetic data below. Carrier testing reports will look different depending on who is being tested, and where they are in the conception or prenatal process. The following report examples assume that one individual, whether they currently have a partner or not, has given a sample to be tested as a carrier for a panel of diseases.

A crucial and dynamic aspect of the carrier testing report is that it incorporates the two sets of results once both partners, or both the partner and donor, have been tested. The reports below include combined results for two individuals.

How to Use This Tool

  • Clinicians

    Let your management and IT teams know about this tool and how it’ll help improve your practice and the patient experience.

    Download Example Package

  • Health IT and Developers

    Leverage the design guidelines and source code to transform your production service to fit patient and clinician needs.

    Use the code

  • Custom Reports

    Looking for a carrier testing report or other genomic service designed just for your organization? Let's work together to create something impactful and beautiful.

    Let's work together

  • Make it Better

    Many eyes makes genetic reporting better. This open source project needs your design, engineering, and clinical critique. Anyone can get involved by providing clinical or patient-focused feedback, joining the community, submitting code, and evolving the service.


See the Research

Over the course of our research (2014-2017), we have interviewed a sample size of:




Genetic Counselors


Research Scientists



Ecosystem Analysis

As part of the initial stages of the design process, we launched a significant effort to understand the ecosystem of carrier testing services. This included conducting scientific literature research, as well as outlining the customer experience, feature set, and value propositions for the top competitors in the industry to understand what opportunity gaps exist.

Expert Contextual Inquiry

Through our connections with local medical institutions and clinicians, as well as a guerilla effort to acquire more industry experts through social media and survey tools, we conducted exploratory interviews to understand the ecosystem and problem set. These efforts were two-fold. On the patient side, we aimed to understand the customer journey of carrier testing for patients or prospective parents. On the clinician side, we hoped to outline the workflow of OBGYNs, pediatricians, genetic counselors, and any other clinicians involed in carrier testing.

Usability Testing

After translating insights gathered from literature and exploratory primary research into version one for multiple projects, we then approached our interview subjects again to obtain valuable feedback on designs. For all projects involved, this was an iterative process. User feedback was used to evolve designs, which were used to gather more feedback, and so on. We employed the use of few "champion" users, whom we contacted frequently for shorter cycles of feedback and iteration.

Industry Experience

As a software design consultancy, we have worked with Mt. Sinai Hospital, Personal Genome Project, and two other leading genomics organizations to design the digital experience for a variety of genetic testing products. Our one-on-one engagements with some of the top professionals in the industry have provided essential feedback on clinical feasibility and scientific accuracy.

See Documentation

Design Limitations

While this framework accommodates the most common types of autosomal recessive carrier results, it is important to note that not ALL results are currently accommodated. Below are important limitations in the report capabilities.

  • Sample patient, disease, limitations, and test detail content in the report designs should be specific to your organization, and is therefore synthetic and not intended for production.
  • Non-autosomal recessive disease carrier status (X-linked, autosomal dominant, mitochondrial, deNovo, etc.) is not supported.
  • Care team permissions design is to be determined.
  • Disease detail design is to be determined.
  • This framework is designed to convey results to patients accompanied by clinician support.

Who We Are

GoInvo helps healthcare technology companies design magical software for personalized medicine. We work with organizations such as 3M, Johnson & Johnson, Walgreens, Mount Sinai Hospital, Partners Healthcare, National Insititutes of Health, and Personal Genome Project/Open Humans. We're located in Arlington, Massachusetts.

Open source design template for carrier test reporting from GoInvo, 2017.
Licensed under the Apache License, Version 2.0.