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Medical Specialty

Genetics

Also Known As Human Genetics
Genetics, Immunology and Microbiological Sciences
Origin 1900 rediscovery of Mendel inheritance laws; clinical board certification 1980-1991

Genetics in medicine covers the history and clinical application of heredity science, from the foundational work of Gregor Mendel on pea plant inheritance through its independent rediscovery in 1900 by three botanists, Hugo de Vries, Carl Correns and Erich von Tschermak, each working separately and without knowledge of the others until reviewing the existing literature. Their confirmation of Mendel inheritance patterns, combined with the developing understanding of chromosomes, founded modern genetics as a science. Clinical application followed later: the American Board of Medical Genetics and Genomics incorporated in 1980, offered its first certifying examination in 1981, and gained full recognition from the American Board of Medical Specialties in September 1991. This entity covers genetics as a discipline entering medicine broadly, including pharmacogenomics and the history leading to certified practice, distinct from Medical Genetics, the certified clinical specialty already recorded on this atlas for diagnosis of heritable disease.

Facts
Classification
Type/Classification
Clinical Specialty 1
Origin Period
1900 rediscovery of Mendel inheritance laws; clinical board certification 1980-1991 1
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Mendel Rediscovered: Three Botanists and the Birth of Genetics

This article records tradition as it has been passed down and reported. Its sources are not yet part of the atlas's verified catalogue.

Gregor Mendel published his experiments on pea plant inheritance in 1866, but the work drew little attention for more than three decades. In 1900, three botanists working independently, Hugo de Vries in the Netherlands, Carl Correns in Germany and Erich von Tschermak in Austria, each arrived at similar conclusions about inheritance through their own plant-breeding experiments, and each, on reviewing the existing literature before publishing, discovered that Mendel had already described the same laws a generation earlier. All three credited Mendel in their published results, and the rediscovery, combined with the developing understanding of chromosomes in the same period, is generally treated as the founding moment of genetics as a formal science rather than a scattered set of breeding observations.

From Pea Plants to Patients: How Genetics Entered Medicine

This article records tradition as it has been passed down and reported. Its sources are not yet part of the atlas's verified catalogue.

The path from the inheritance laws described by Mendel to clinical practice took most of the twentieth century. Genetic counseling and diagnosis of heritable disease grew steadily through mid-century, but board certification did not exist until the American Board of Medical Genetics and Genomics incorporated in 1980, with the physician David Rimoin serving as its first president. The board, developed in collaboration with the National Board of Medical Examiners, offered its first certifying examination in 1981, testing expertise across clinical genetics, laboratory genetics and genetic counseling. Full recognition followed in September 1991, when the American Board of Medical Specialties approved the board application, with the American Medical Association Council on Medical Education granting parallel approval that December. That certification track is recorded on this atlas as Medical Genetics, the diagnostic specialty; this article covers genetics as the wider discipline whose history runs from Mendel through the rediscovery of 1900 to the certification milestones a century later, including the pharmacogenomic and genomic medicine practice that has grown around it since.

Genetics
Filter Results6 entries
Connections

Associated With

Pharmacogenomics and hormone-related heritable conditions connect the two fields in current clinical practice.

Hemophilia, Conditions
Klinefelter Syndrome, Conditions

Chromosomal condition (extra X chromosome in males); genetics specialty.

Marfan Syndrome, Conditions

Inherited connective-tissue disorder (FBN1 gene); genetics specialty.

Medical Genetics is the certified clinical specialty this broader historical discipline entered medicine through.

Turner Syndrome, Conditions

Chromosomal condition (partial/complete X monosomy in females); genetics specialty.

Long-Form Articles

Notable Specialists

In the Other Atlases
Sources
1. ABMGG History Page
American Board of Medical Genetics and Genomics
  • abmgg.org History of the ABMGG page, founding paragraph
    Incorporated in 1980, the American Board of Medical Genetics and Genomics certifies individuals in the field of human genetics.
  • abmgg.org History of the ABMGG page, 1991 ABMS recognition paragraph
    the Executive Committee of the American Board of Medical Specialties (ABMS) and the Assembly of the ABMS approved our application for acceptance as a new board of the ABMS
  • ABMGG History Page: medical genetics as a clinical specialty
View the Source
NHGRI: 1900 Rediscovery of Mendel Laws
National Human Genome Research Institutegenome.gov 1900 Rediscovery of Mendels Work page, main section
Quote, genome.gov 1900 Rediscovery of Mendels Work page, main section
Three botanists - Hugo DeVries, Carl Correns and Erich von Tschermak - independently rediscovered Mendel's work in the same year, a generation after Mendel published his papers.
View the Source
Frequently Asked Questions

Who rediscovered Gregor Mendel's work on inheritance in 1900?

Hugo de Vries, Carl Correns and Erich von Tschermak, each working independently in 1900.

Three botanists, Hugo de Vries, Carl Correns and Erich von Tschermak, each independently rediscovered Mendel's work in 1900, a generation after Mendel published his papers. Their confirmation of his inheritance patterns, together with the growing understanding of chromosomes, founded modern genetics as a science.

When did genetics gain formal recognition as a medical specialty in the United States?

The certifying board was incorporated in 1980 and won full American Board of Medical Specialties recognition in September 1991.

The American Board of Medical Genetics and Genomics was incorporated in 1980 to certify individuals in the field of human genetics. In September 1991 the American Board of Medical Specialties approved its application for acceptance as a new board, giving the field full recognition as a certified specialty.
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