The fields of genetics and genetic testing, and the technologies used to uncover variants in our DNA, have expanded and improved in leaps and bounds over the last decade. Genetic testing for specific changes that can affect patients’ health has been used routinely in several areas of medicine, including the prenatal, reproductive, pediatric and cancer fields. The field of cardiac genetics, or cardiogenetics, although a bit newer than some of the others, has followed suit.
Like many couples thinking about starting a family, Katy and John Smith* discussed carrier screening with their doctor. Katy, 31, chose a carrier screening test for 281 genetic conditions and anxiously awaited the results. But when her doctor finally telephoned, the results were not what the Smiths expected.