Sex and gender diversity have long existed across cultures throughout history. Despite this, the harmful perpetuation of the gender and sex binary persists within all specialties of medicine, particularly medical genetics. In reality, sex characteristics encompass many dimensions influenced by genetics, hormones, and anatomy, challenging the simplistic binary categorization. Similarly, gender is a complex and multifaceted social construct that defies binary classification, reflecting diverse identities and experiences beyond traditional norms.

The first class of genetic counselors graduated with an M.A. from the Sarah Lawrence College in 1971; less than two years later, the Supreme Court decision in Roe v. Wade legalized abortion in all fifty states. In the U.S., the field of reproductive genetic counseling came of age against a backdrop of legal abortion, and the option of terminating a pregnancy after a prenatal diagnosis has always been an integral part of the standard of care. In 1992, the Supreme Court decision in Casey v.

Targeted carrier screening began over 50 years ago with a focus on populations at increased risk for specific genetic conditions based on patient-reported racial, ethnic, or ancestral background. As genetic technologies have evolved, testing laboratories have begun offering expanded carrier screening (ECS) panels. Recently, the American College of Medical Genetics and Genomics (ACMG) recommended a universal approach to carrier screening for pregnant patients and those considering a pregnancy, due to the increased recognition that self-identified ancestry is imperfect.