The concept of actionability in genetics is frequently associated with identifying genetic variants that directly inform therapeutic intervention. In pharmacogenomics, actionability often means using genetic information that may inform treatment selection and dosing for an individual. Cholesterol management is an excellent example. … Read More »Actionability in Genomic Medicine: More Than Choosing the Right Drug
One question frequently asked is: “How many actionable genes do you report?” While this sounds like a simple question, it is really asking something much broader: “Under what circumstances can genomic information inform patient care?” The true value of genomic testing is… Read More »Rethinking Clinical Actionability in Genomics
Artificial intelligence is rapidly transforming genomics, making powerful analytical tools accessible to more people than ever before. But while AI can generate convincing interpretations, it does not replace the deep expertise required to evaluate genetic evidence, recognize uncertainty, and make… Read More »AI Democratizes the Appearance of Expertise. In Genomics, That’s a Problem
What Consumers Should Know About Genomic Testing In this article, Wayne Delport challenges the common assumption that clinical-grade sequencing automatically represents the highest standard in genomic testing. The piece explores the technical, analytical, and regulatory differences between clinical sequencing pipelines… Read More »Clinical-Grade Sequencing Isn’t the Gold Standard
A Genomics Reporting Problem Patients Should Understand In this article, Wayne Delport examines a critical issue in consumer genomics and clinical genetic reporting: the omission of Factor V Leiden status from reports that reference “Factor V”–related clotting risk. Using real-world… Read More »When Factor V Doesn’t Include Leiden
In this article, Wayne Delport examines one of the most widely misunderstood concepts in genetics: heritability. The piece explains why heritability estimates are frequently misinterpreted as direct measures of genetic determinism, when in reality they describe how variation within a… Read More »Heritability: The Persistent Misinterpretation
Where Polygenic Risk-Based Estimates of Absolute Risk Start To Fail In this second article of this series, Wayne Delport explores the statistical limits of polygenic risk scores (PRS) and why extreme estimates of absolute disease risk often become unreliable at… Read More »PRS: Breaking the Tails
Why That Number Is Probably Misleading In this article, Wayne Delport examines how polygenic risk scores (PRS) can sometimes generate misleading interpretations of disease risk — particularly for Type 2 Diabetes. Using a genetic report that suggested an “89% lifetime… Read More »Genetic Report says 89% Risk of T2D