William Andrew Faucett, MS, LGC, talks about genomics

Since then, the costs have dropped dramatically, making it possible to map the full exome of just about everybody. That’s opened up a new field of personalized medicine that can use genetic information along with medical and lifestyle information to prevent disease and tailor treatments. Most clinicians, however, don’t have exposure to this new tool. There is a need for genetic counselors and medical geneticists to help doctors understand who to test, what to do with the information testing yields, and how to talk to patients about their results.

Humans have about 20,000 genes. We understand the disease impact of less than 3,000 of these genes, and we are just beginning to understand the thousands of changes in each gene. Some genetic changes don’t mean anything. Some do, and those changes CAUSE disease or increase the RISK for disease. Some do and actually KEEP us from getting sick. The more individuals we sequence, the more we will learn about both the harmful and the protective changes in genes. Medicine needs people who can use the new tools to test, to interpret, and to keep interpreting—because our knowledge keeps changing every day. Doctors learn by doing, and most have never worked with patient genetic information. They’ve never ordered the tests or looked at the results, and they don’t know what to do when results come back—how to help patients understand and use the information.

Today, I am working to use genetics in healthcare—how to do it effectively and in ways most beneficial to patients. I am most excited about how my work helps doctors prevent disease so that people stay well. I am also excited about the ways genetics helps us understand the biology of disease, to differentiate ways diseases affect individuals, so they live longer and healthier.