Sheldon Clark Reed helped establish the profession of genetic counseling in the US during the twentieth century. In 1947 Reed coined the term genetic counseling to describe the interaction of a doctor explaining to a patient the likelihood of passing a certain trait to their offspring. With physicians being able to test for genetic abnormalities like cystic fibrosis, Reed helped trained individuals give patients the tools to make informed decisions. In 1955 Reed published the book Counseling in Medical Genetics. Reed educated patients about how certain genetically transmitted traits could adversely affect their offspring and provided options for remedying those effects.

Audrey Heimler and colleagues founded the National Society of Genetic Counselors (NSGC) in 1979 in New Hyde Park in New York, New York. Her stated goals were to establish the field of genetic counseling within biomedicine and to coordinate counselors’ voices, so that physicians and others in the medical industry would not dictate the future of the field. Genetic counselors inform patients about the potential for inherited diseases passed on through family lineages and help to navigate the options available. NSGC helped establish the field of genetic counseling by formulating guidelines for accreditation in university programs, establishing curriculum for continuing education of members, and creating committees to respond to issues that pertain to genetic disorders and the way they are presented to patients. As scientists continue to research the human genome, particularly in the area of prenatal genetics, an area of medicine that allows physicians to diagnose the health of the fetus prior to birth, genetic counseling is an established field in reproductive medicine.

On 1 February 1998, David T. Helm, Sara Miranda, and Naomi Angoff Chedd published “Prenatal Diagnosis of Down Syndrome: Mothers’ Reflections on Supports Needed From Diagnosis to Birth,” hereafter “Mothers’ Reflections,” in the journal Mental Retardation. In 2007, Mental Retardation changed its name to Intellectual and Developmental Disabilities. Down syndrome is the result of an extra copy or partial copy of chromosome 21, also known as Trisomy 21. It is characterized by traits such as intellectual disabilities, differing facial features, and a high risk for heart disease. In the study, the authors interviewed ten mothers, all of whom had elected to continue with their pregnancy after a prenatal diagnosis of Down syndrome, about their experiences with health care professionals. The article provides suggestions for health care professionals, such as providing up-to-date materials and unbiased information and avoiding judgmental language, so that when mothers receive a prenatal diagnosis of a developmental disability, they are prepared and supported.