Today we feature Tamar Goldwaser and the New ACMG Guidelines for Prenatal and Preconception Carrier Screening. Genetic testing is expensive! Until now it has been reserved for a few populations that are known to be at higher risk. But we have missed many carriers this way. Many families continue to be unprepared for the news that their child has a severe inherited genetic condition that was passed on from the parents. 

What about everyone else? The time is now! With advanced technology making testing for hundreds of genes all at once, faster and cheaper, we can finally envision a reality where all patients can be tested before they start to build a family. If a couple finds out that they are carriers, they can use this information to take advantage of various reproductive options. 

This is genetic testing for all! This is one step towards equity in reproductive medicine. I am proud to be an author on a Practice Resource published by the American College of Medical Genetics and Genomics (ACMG) entitled “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception,” which recommends a uniform set of conditions for carrier screening panels for all individuals, regardless of ethnicity, race or population. It is my hope that this leads to increased awareness, familiarity and clarity among doctors and genetics professionals and also puts pressure on insurance companies to cover testing.