Moments of Truth in Genetic Medicine

Notes

NOTES A B B R E V I AT I O N S APS American Philosophical Society, Philadelphia. EVC 8005 “Ellis–van Creveld 8005,” box R115 F1–2, Papers of Victor A. McKusick, Alan Mason Chesney Medical Archives, Johns Hopkins University, Baltimore. JVN Papers of James V. Neel, American Philosophical Society, Philadelphia. Medical Sciences Com. Medical Sciences Committee on Inborn Metabolic Disorders Archives of the National Academy of Sciences, Washington D.C. NARA I National Archives and Records Administration, Washington, D.C. NARA II National Archives and Records Administration, College Park, Md. NAS Archives of the National Academy of Sciences, Washington D.C. USCB Records of the U.S. Children’s Bureau, National Archives and Records Administration, College Park, Md. VAM Papers of Victor A. McKusick, Alan Mason Chesney Medical Archives, Johns Hopkins University, Baltimore. C H A P T E R 1 . I N T R O D U C T I O N 1. Twins seem to be right about their zygosity 90 percent of the time; DNA fingerprinting would produce more accurate results, but like other technical measures it would be too costly for large samples of unselected twins. 2. There is some relevant discussion of the history of ideas about like begets like in Medin and Atran 1999. See also the remarkable interpretation of Olmec knowledge by Tate and Bendersky (1999). 3. James Secord’s 1981 paper remains a fresh exploration of Darwin’s deep engagement with amateur breeders and the role of their knowledge of artificial selection in his thinking. 4. On the role of knowledge in agriculture and the contentious question of farmers ’ knowledge, see Hamlin and Shepard 1993. 5. J. Langdon Down’s 1866 article, “Observations on an Ethnic Classification of Idiots,” was reprinted in 1995 in Mental Retardation. See also Zihni 1995. On Huntington disease, Alice Wexler points out that physicians described the symptoms of excessive involuntary movement in earlier texts, and the seventeenth-century physician Thomas Sydenham tried to classify choreic syndromes, though he did not see them as genetic. In the 1840s, physicians in the United States, Norway, and England began to write about what they called chronic hereditary chorea (Wexler 1995, 46–49). 6. Weiner apparently ran his own lab, Weiner Serum Laboratory, and also had an appointment at the New York University Medical School. Later he was a bacteriologist at the Office of the Chief Medical Examiner of New York City. He was also involved during the war with the Office of Scientific Research and Development, the organization that mobilized American scientists and engineers to help the Allies during World War II (Cattell 1955). 7. I am estimating the number of amniocentesis procedures based on a 1967 report by Harold P. Klinger and Orlando J. Miller at a conference in Puerto Rico. They reported four successful diagnoses and five additional cases that had recently been reported (Klinger and Miller 1968). 8. From the comments of Dr. Richard Heller, director of the Prenatal Birth Defects Center, before the Maryland Commission on Hereditary Disorders meeting, 26 June 1974, minutes filed in Department of Health, Baltimore. 9. Ibid. 10. Collins made this comment at the People’s Genome Celebration in Washington , D.C., June 2001. 11. The topic of limitations of clinical interventions came up several times in different contexts at a meeting at Harvard Medical School, 23–26 June 2001. The meeting was supported by the Applera Foundation, which was created by Applied Biosystems and its subsidiary company Celera, Craig Venter’s gene mapping group. Leon Eisenberg organized the meeting, based on the premise that the average physician212 N O T E S T O PA G E S 4 – 1 8 in-training needed to know much more about genomic medicine. One of the proposals was to abandon the teaching of anatomy in favor of more training in the anatomy of the genome. 12. For an excellent, comprehensive, and continually updated web resource on developments in genomic medicine, see www.genetics-and-society.org. Richard Hayes, Marcy Darnovsky, and their staff provide a critical public service through this very informative site. 13. Sulston’s comments made at the People’s Genome Celebration, June 2001. C H A P T E R 2 . B A B I E S ’ B L O O D 1. For a description of the field trials, see Children’s Bureau Publication No. 419, Phenylketonuria: Detection in the...