Genomic data analysis workflow

PRE-TEST COUNSELING

Pretest counseling is an opportunity to facilitate patient’s informed decision-making about undergoing DNA analysis.

Patients will likely have questions when they learn that they may be candidates for genomic DNA analysis.  It is therefore always helpful to discuss the benefits, risks, and limitations of DNA testing, since clear communication at this stage can ease adaptation to results later. 

To learn more about risks and benefits of genomic DNA analysis read here.

BIOINFORMATICS ANALYSIS ANF VARIANT DISCOVERY

A human has about 22,000 genes and each gene has several thousand variants. Together, this makes several billion variants.

Most variants are of no clinical significance, but there could be one or two that could be causing health problems. Finding the “culprit” is probably the most challenging part of genomic DNA data analysis. It takes a dedicated team of bioinformatics specialists including computer programmers, geneticists, scientists, physicians and other specialists to assemble a coherent story that the patient’s 3 billion letters of DNA is all about.

REPORTING RESULTS

We set out to establish a set of recommendations for communicating DNA analysis results to non-expert readers.

Patients and non-specialist healthcare professionals are increasingly expected to understand and interpret the results of genetic or genomic data analysis. These results are currently reported using a variety of templates, containing different amounts, levels, and layouts of information.

Our Automated report provides at-a-glance comprehensive overview of what the test results mean for the patient; suggested next steps; and details of further information and support. Separation and inclusion of technical methodological details enhances non-specialists’ understanding, while retaining important information for specialists and the patients’ records. The recommendations address the high-level needs of patients and their non-specialist clinicians when receiving genetic test results. 

Our report is “Physician ready”, which means that it could be presented to and reviewed by a physician who is not a specialist in genomics of bioinformatics.

You may review a sample report here.