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November 17, 1993, Vol 270, No. 19 >
ARTICLE | November 17, 1993

Medical Genetics: Title and subTitle BreakA 40-Year Perspective on the Evolution of a Medical Specialty From a Basic Science FREE

Victor A. McKusick, MD
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JAMA. 1993;270(19):2351-2356. doi:10.1001/jama.1993.03510190107035
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References

WITHIN the last year, medical genetics has been fully recognized as a bona fide clinical specialty. The American Board of Medical Genetics, established in 1979 under the wing of the American Society of Human Genetics (with first examinations in 1981), was accepted into the family of specialty-certifying boards as the 24th member of the American Board of Medical Specialties. In 1992, the American College of Medical Genetics was established in parallel to the colleges of other specialties. The development of this clinical specialty has taken place during the last 40 years, and many involved in that development are still active to tell the story.1

The American Board of Medical Genetics is unusual among specialty boards in the fact that PhD geneticists are certified for working in clinical genetics, and the board has specialized certification in clinical genetics, biochemical genetics, and molecular genetics on the basis of separate examinations. (The

REFERENCES

1 +
McKusick VA.  Forty years of medical genetics. JAMA . 1989;;261:3155-3158.
2 +
McKusick VA.  Human genetics: the last 35 years, the present, and the future. Am J Hum Genet . 1992;;50:663-670.
3 +
McKusick VA, Amberger JS.  The morbid anatomy of the human genome: chromosomal location of mutations causing disease. J Med Genet . 1993;;30:1-26.
4 +
Seegmiller JE, Rosenbloom FM, Kelley WN.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science . 1967;;155:1682-1684.
5 +
Donahue RP, Bias WB, Renwick JH, McKusick VA.  Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc Natl Acad Sci USA . 1968;;61:949-955.
6 +
McKusick VA.  Prospects for progress.  In: Fraser FC, McKusick VA, eds. Congenital Malformations: Third International Conference, The Hague, 1969 . Princeton, NJ: Excerpta Medica; 1970;;3:407-413.
7 +
Schrott HG, Karp L, Omenn GS.  Prenatal prediction in myotonic dystrophy: guidelines for genetic counseling. Clin Genet . 1973;;4:38-45.
8 +
Schrott HG, Omenn GS.  Myotonic dystrophy: opportunities for prenatal prediction. Neurology . 1975;;25:789-791.
9 +
McCurdy PR.  Use of genetic linkage for the detection of female carriers of hemophilia. N Engl J Med . 1971;;285:218-219.
10 +
Kan YW, Dozy AM.  Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A . 1978;;75:5631-5635.
11 +
Solomon E, Bodmer WE.  Evolution of sickle variant gene. Lancet . 1979;;1:923.
12 +
Botstein D, White RL, Skolnick M, Davis RW.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Hum Genet . 1980;;32:314-331.
13 +
Southern EM.  Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol . 1975;;98:503-517.
14 +
Haldane JBS.  The formal genetics of man. Proc R Soc Lond . 1948;;135:147-170.
15 +
McKusick VA.  The morbid anatomy of the human genome: a review of gene mapping in clinical medicine. Medicine . 1986;;65:1-32
16 +
1987;66:1-63,237-296
17 +
1988;67:1-19.
18 +
McKusick VA. Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes . 10th ed. Baltimore, Md: The Johns Hopkins University Press; 1992;.
19 +
Smith DW, Jones KL. Smith's Recognizable Patterns of Human Malformation . 4th ed. Philadelphia, Pa: WB Saunders Co; 1988;.
20 +
Gorlin RJ, Cohen MD Jr, Levin LS. Syndromes of the Head and Neck . New York, NY: Oxford University Press; 1990;.
21 +
McKusick VA.  Presidential address: the growth and development of human genetics as a clinical discipline. Am J Hum Genet . 1975;;27:261-273.
22 +
McKusick VA.  On lumpers and splitters, or the nosology of genetic disease. Perspect Biol Med . 1969;;12:298-312.
23 +
Giannelli F, Green PM, High KA, et al.  Haemophilia B: database of point mutations and short additions and deletions, fourth edition, 1993. Nucleic Acids Res . 1993;;21:3075-3087.
24 +
Hobbs HH, Brown MS, Goldstein JL.  Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Molec Genet . 1992;;1:445-466.
25 +
Anderson WF.  Human gene therapy. Science . 1992;;256:808-813.
26 +
Mulligan RC.  The basic science of gene therapy. Science . 1993;;260:926-932.
27 +
McKusick VA.  Marcella O'Grady Boveri (1865-1950) and the chromosome theory of cancer. J Med Genet . 1985;;22:431-440.
28 +
Nowell PC, Hungerford DA.  A minute chromosome in human chronic granulocytic leukemia. Science . 1960;;132:1497.
29 +
Burnet FM. The Clonal Selection Theory of Acquired Immunity . Nashville, Tenn: Vanderbilt University Press; 1959;.
30 +
Mackay IH, Burnet FM. Autoimmune Diseases: Pathogenesis, Chemistry, and Therapy . Springfield, Ill: Charles C Thomas Publishers; 1963;.
31 +
Weatherall DJ. The New Genetics and Clinical Practice . 3rd ed. New York, NY: Oxford University Press; 1991;.
32 +
McKusick VA.  Current trends in mapping human genes. FASEB J . 1991;;5:12-20.
33 +
McKusick VA.  Mapping and sequencing the human genome. N Engl J Med . 1989;;320:910-915.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

1 +
McKusick VA.  Forty years of medical genetics. JAMA . 1989;;261:3155-3158.
2 +
McKusick VA.  Human genetics: the last 35 years, the present, and the future. Am J Hum Genet . 1992;;50:663-670.
3 +
McKusick VA, Amberger JS.  The morbid anatomy of the human genome: chromosomal location of mutations causing disease. J Med Genet . 1993;;30:1-26.
4 +
Seegmiller JE, Rosenbloom FM, Kelley WN.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science . 1967;;155:1682-1684.
5 +
Donahue RP, Bias WB, Renwick JH, McKusick VA.  Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc Natl Acad Sci USA . 1968;;61:949-955.
6 +
McKusick VA.  Prospects for progress.  In: Fraser FC, McKusick VA, eds. Congenital Malformations: Third International Conference, The Hague, 1969 . Princeton, NJ: Excerpta Medica; 1970;;3:407-413.
7 +
Schrott HG, Karp L, Omenn GS.  Prenatal prediction in myotonic dystrophy: guidelines for genetic counseling. Clin Genet . 1973;;4:38-45.
8 +
Schrott HG, Omenn GS.  Myotonic dystrophy: opportunities for prenatal prediction. Neurology . 1975;;25:789-791.
9 +
McCurdy PR.  Use of genetic linkage for the detection of female carriers of hemophilia. N Engl J Med . 1971;;285:218-219.
10 +
Kan YW, Dozy AM.  Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A . 1978;;75:5631-5635.
11 +
Solomon E, Bodmer WE.  Evolution of sickle variant gene. Lancet . 1979;;1:923.
12 +
Botstein D, White RL, Skolnick M, Davis RW.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Hum Genet . 1980;;32:314-331.
13 +
Southern EM.  Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol . 1975;;98:503-517.
14 +
Haldane JBS.  The formal genetics of man. Proc R Soc Lond . 1948;;135:147-170.
15 +
McKusick VA.  The morbid anatomy of the human genome: a review of gene mapping in clinical medicine. Medicine . 1986;;65:1-32
16 +
1987;66:1-63,237-296
17 +
1988;67:1-19.
18 +
McKusick VA. Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes . 10th ed. Baltimore, Md: The Johns Hopkins University Press; 1992;.
19 +
Smith DW, Jones KL. Smith's Recognizable Patterns of Human Malformation . 4th ed. Philadelphia, Pa: WB Saunders Co; 1988;.
20 +
Gorlin RJ, Cohen MD Jr, Levin LS. Syndromes of the Head and Neck . New York, NY: Oxford University Press; 1990;.
21 +
McKusick VA.  Presidential address: the growth and development of human genetics as a clinical discipline. Am J Hum Genet . 1975;;27:261-273.
22 +
McKusick VA.  On lumpers and splitters, or the nosology of genetic disease. Perspect Biol Med . 1969;;12:298-312.
23 +
Giannelli F, Green PM, High KA, et al.  Haemophilia B: database of point mutations and short additions and deletions, fourth edition, 1993. Nucleic Acids Res . 1993;;21:3075-3087.
24 +
Hobbs HH, Brown MS, Goldstein JL.  Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Molec Genet . 1992;;1:445-466.
25 +
Anderson WF.  Human gene therapy. Science . 1992;;256:808-813.
26 +
Mulligan RC.  The basic science of gene therapy. Science . 1993;;260:926-932.
27 +
McKusick VA.  Marcella O'Grady Boveri (1865-1950) and the chromosome theory of cancer. J Med Genet . 1985;;22:431-440.
28 +
Nowell PC, Hungerford DA.  A minute chromosome in human chronic granulocytic leukemia. Science . 1960;;132:1497.
29 +
Burnet FM. The Clonal Selection Theory of Acquired Immunity . Nashville, Tenn: Vanderbilt University Press; 1959;.
30 +
Mackay IH, Burnet FM. Autoimmune Diseases: Pathogenesis, Chemistry, and Therapy . Springfield, Ill: Charles C Thomas Publishers; 1963;.
31 +
Weatherall DJ. The New Genetics and Clinical Practice . 3rd ed. New York, NY: Oxford University Press; 1991;.
32 +
McKusick VA.  Current trends in mapping human genes. FASEB J . 1991;;5:12-20.
33 +
McKusick VA.  Mapping and sequencing the human genome. N Engl J Med . 1989;;320:910-915.

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