5 hot tips for my non-geneticist friends sending genetic testing. To access the full nerdery, gifs, and clumsy analogies, read thread below.

Don't send a panel after an exome. It's like if I did a whole body MRI on someone (exome) and then you turn around the next day and do an MRI of their brain (panel) just to make sure it's okay. Bruh, it's all good! We've already checked the brain! Look elsewhere for your answer.

A Variant of Unknown Significance (VUS) is an inconclusive result. The probability the variant is causing your patients problems is anywhere between 5%-94.9%. LARGE RANGE. So don't ignore it and don't overcall it. If you need help, we (genetic counsellors/geneticists) gotchu

If you know of a specific mutation running in a family, just test for that 1 MUTATION in that 1 gene in family members. Don't sequence the whole gene. It's like if you checked your ENTIRE home when i told you with full confidence that your lost keys were in the kitchen drawer.

A negative result rarely "rules out" genetic disease. That means if you are suspicious a patient has a genetic disease treat them as such. Consider more testing. Scrutinize the suspected diagnosis. Don't forget that family members may still need counselling and management.

Remember genetic test technologies and our interpretation of genetic testing will change over time. If your patient has had a "full genetic workup" 15 years ago for their disorder and it was negative/VUS, re-refer them to us. Our tests are HELLA better than they were then. - END-