Direct to Consumer testing in Primary Care

For the first part of this week, we are going to focus on direct-to-consumer (DTC) genetic testing. We will cover what is provided, pros and cons and how we can manage results that are brought to us in primary care.

In order to do this, we are going to try to help you understand the following issues as this will help you to explain the clinical relevance of a DTC result to your patients:

• How NGS or next generation sequencing has changed genetic testing capability
• How variants from the reference genome can be classed as significant, benign or unknown
• What general testing strategies are offered to consumers
• The interaction between genetics and environment influencing the phenotype displayed
• How this knowledge helps us manage a patient presenting with a DTC report

In the second part of the week, we will look for interest into the application of genetic technologies in infectious disease