Simplifying communication in diagnosis of genetic disease

Rare genetic diseases affect 1 in 17 people, and genome sequencing has made the diagnosis of many of these diseases possible. However, the complex technology faces several challenges. Together with DNV GL, EGGS has designed concrete suggestions for creating a more efficient information flow between the genomic sequencing laboratory and the treating clinician to benefit the patient.

High complexity data and cross-functional teams

The data used to diagnose rare disease patients is highly complex and challenging to interpret. Several highly specialized professionals are involved in determining the results: lab technicians, bioinformaticians, and clinical geneticists. The results are delivered to the requisitioning clinician in the form of a clinical genetic report, often text-heavy and full of technical details, making it difficult to identify the most critical information.

In a benchmarking exercise that DNV GL performed with three participating clinical geneticists, healthcare professionals both missed crucial information in the hypothetical report and believed information to be present, which was, in fact, absent. This could have a potentially negative impact on patient wellbeing.

Solution: visualization of the most crucial information

Through interviews with laboratory specialists, clinical specialists, general practitioners (GPs) and patients, we could identify a number of communications issues that can be helped through improved information design. One concrete suggestion is to redesign the report to help the reader of the information find the most crucial information.

By breaking up the results report into smaller paragraphs and adding clear visuals that guide the reader through the information, we can ensure a more correct, quicker reading of the results and prevent misinterpretations.

The traditional, text-heavy paper delivery mechanism is ripe for reinterpretation. The human brain processes images 60,000 times faster than text, with 90% of information being transmitted to the brain being visual. Given the clinician's everyday reality, a visual representation of results will improve the speed and quality of comprehension.

Increased safety and empowerment for patients

The delivery of the results report is of extreme importance, and poorly crafted reports waste clinicians’ time and healthcare resources. Worse, they can potentially pose risks and threats to patient safety. By enhancing the information streams between the laboratory and the clinician, clinical decision making can become more efficient. This, in turn, improves patient safety and quality of care - a more accurate understanding of the test results allows clinicians to implement the appropriate clinical management of their patients. Moreover, a more precise interpretation of the results also has the knock-on effect of empowering the patients - it helps increase their understanding of their diagnosis and treatment implications.

You can read more about DNV GL's Precision Medicine Programme here.