History of Human Genetics: Aspects of Its Development and Global Perspectives

562 Pages·2017·4.395 MB·English

by  Heike I. Petermann, Peter S. Harper, Susanne Doetz

Heike I. Petermann · Peter S. Harper
Susanne Doetz Editors
History of
Human
Genetics
Aspects of Its Development and Global
Perspectives
History of Human Genetics
Heike I. Petermann (cid:129) Peter S. Harper (cid:129)
Susanne Doetz
Editors
History of Human Genetics
Aspects of Its Development and Global
Perspectives
Editors
HeikeI.Petermann PeterS.Harper
InstitutfürEthik, InstituteofMedicalGenetics
GeschichteundTheoriederMedizin CardiffUniversity
Westfa¨lischeWilhelms-Universita¨t Cardiff,UnitedKingdom
Münster,Nordrhein-Westfalen
Germany
SusanneDoetz
InstitutfürGeschichtederMedizin
undEthikinderMedizin
Charite´-Universita¨tsmedizin
Berlin,Berlin
Germany
ISBN978-3-319-51782-7 ISBN978-3-319-51783-4 (eBook)
DOI10.1007/978-3-319-51783-4
LibraryofCongressControlNumber:2017940399
©SpringerInternationalPublishingAG2017
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Contents
Introduction. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
HeikeI.Petermann,PeterS.Harper,andSusanneDoetz
PartI WorkshopsontheHistoryofHumanGenetics
TheInternationalWorkshopsonGenetics,MedicineandHistory:
AnOverview,2003–2015. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7
PeterS.HarperandHeikeI.Petermann
PartII BeginningofHumanGenetics
AncestralConceptsofHumanGeneticsandMolecularMedicine
inEpicureanPhilosophy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41
ChristosYapijakis
BatesonandtheDoctors:TheIntroductionofMendelianGenetics
totheBritishMedicalCommunity1900–1910. . . . . . . . . . . . . . . . . . . . 59
AlanR.Rushton
PartIII GeneticsandMedicine
PedigreesandPrejudices:Pre-WWIIInheritedDiseaseClassification
attheUSEugenicsRecordOffice. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 75
PhilipK.Wilson
AldredScottWarthin’sFamily‘G’:TheAmericanPlotAgainstCancer
andHeredity(1895–1940). . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91
ToinePieters
GeneticDiscriminationintheDoctoringofCancerandAlcoholism. . . 105
StephenSnelders,CharlesD.Kaplan,FransJ.Meijman,andToinePieters
v
vi Contents
TheGenomizationofBiology:Counterbalancing
RadicalReductionism. . . .. . . .. . . . .. . . .. . . .. . . .. . . . .. . . .. . . .. 115
RicardoNoguera-Solano,RosauraRuiz-Gutierrez,
andJuanManuelRodriguez-Caso
ABriefHistoryofUncertaintyinMedicalGeneticsandGenomics. . . . 133
ReedE.Pyeritz
PartIV Countries
“Nature’sLaboratoriesofHumanGenetics”:AlpineIsolates,
HereditaryDiseasesandMedicalGeneticFieldwork,1920–1970. . . . . . 145
PascalGermann
SomeThoughtsonGeneticsandPolitics.TheHistorical
MisrepresentationofScandinavianEugenicsandSterilization. . . . . . . 167
NilsRoll-Hansen
ChangingthePointofView:TheHistoryofHumanGeneticsasan
AppliedScienceintheFederalRepublicofGermany,1945–1975. . . . . 189
HeikeI.Petermann
HerbertBach(1926–1996):OneofthePioneersofHumanGenetics
inEastGermany(GDR). . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . .. . . . . 221
J€orgPittelkow
ConciseHistoryofPrenatalDiagnosticServiceinRussia. . . . . . . . . . . 233
VladislavS.Baranov
FoundationoftheInternationalFederationofHumanGeneticsSocieties:
TheCatalyst. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 253
KarenBirmingham
PartV GeneMapping
TheFirstHumanGeneticMap1936. . . . . . . . . . . . . . . . . . . . . . . . . . . 265
AlanR.Rushton
GlasgowContributionstoHumanGeneMapping. . . . . . . . . . . . . . . . . 275
MalcolmA.Ferguson-Smith
HumanGeneMapping:TheMassMediaIconographyoftheHuman
GenomeProjectintheMostPopularGreekNewspapers. . . . . . . . . . . . 285
ConstantinosMorfakis
PartVI NarratedHistory
NationalHumanGenomeResearchInstituteHistoryofGenomics
OralHistoryProgram:AnExampleof“Triangulation”. . . . . . . . . . . . 319
ChristopherDonohue
Contents vii
NarratingGenes:HowPatientswithChronicInflammatoryBowel
DiseasesInterpretanEmergingDiseaseAetiologyandHowWeCan
MakeSenseOutofItbyDevelopingaHistoricallyandSociologically
InformedFramework. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 325
DanaMahr
PartVII GeneticCounselling
TheEstablishmentofGeneticCounsellinginSweden:1940–1980. . . . . 339
MariaBj€orkmanandAnnaTunlid
Counselling,RiskandPreventioninHumanGeneticEarlyDiagnosis
intheFederalRepublicofGermany. . . . . . . . . . . . . . . . . . . . . . . . . . . 367
BirgitNemecandGabrieleMoser
“TheHappinessoftheIndividualIsofPrimaryImportance”:
GeneticCounsellingintheGDR. . .. . . .. . . .. . . .. . .. . . .. . . .. . . .. 393
SusanneDoetz
RemarksontheHistoryofGeneticCounsellinginCzechoslovakia,
1945–1990. . . . .. . . .. . . .. . . .. . . . .. . . .. . . .. . . .. . . . .. . . .. . . .. 421
MichalV.Simunek
TheEstablishmentofHumanGeneticCounsellinginAustriainthe
1970sinBetweentheEstablishmentofHumanGeneticsandthe
EugenicIndicationofAbortion. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 433
KatjaGeigerandThomasMayer
GeneticCounsellinginBelgium:TheCentreforHumanGenetics
attheUniversityofLeuven,1960–1990. . . . . . . . . . . . . . . . . . . . . . . . . 447
JorisVandendriessche
GeneticCounsellingforMediterraneanAnaemiainPost-warGreece. . . . 461
AlexandraBarmpouti
KaryotypingandtheEmergenceofGeneticCounsellinginMexico
inthe1960s. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 485
AnaBarahona
NewbornScreeningontheCuspofGeneticScreening:FromSolidarity
inPublicHealthtoPersonalCounselling. . . . . . . . . . . . . . . . . . . . . . . . 503
MargheritaBrusaandMichaelY.Barilan
FeministCriticismofGeneticCounsellingintheSecondHalf
oftheTwentiethCentury. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 523
ShacharZuckerman
viii Contents
TheEvolvingConceptofNon-directivenessinGeneticCounselling. . . . 541
AngusClarke
AComparativeandSocialHistoryofGeneticCounselling?. . . . . . . . . . 567
Jean-PaulGaudilliere
Introduction
HeikeI.Petermann,PeterS.Harper,andSusanneDoetz
Thehistoryofhumangeneticsisparticularlyinterestingsince,unlikeinmanyothernatural
sciences,conceptsofhumangeneticshaveofteninfluencedsocialandpoliticalevents.At
the same time, the development of human genetics as a science has been influenced by
variouspoliticalforces.1
This statement by the human geneticists Friedrich Vogel and Arno Motulsky
characterisedtheinteractionofhumangeneticswithsociety,whichalsoformspart
ofthisvolume.Theprocessofdevelopingknowledgehasbecomeamajortopicin
the twentieth-century historiography of science and medicine. This is a multifac-
torialhistory,ofwhichsomeaspectsarepresentedinthisvolume,too.
The contributions are based on seven workshops that took place over the past
15 years. There, human geneticists have met historians to discuss the history of
heredityandhumangenetics.
SixworkshopswereorganisedbytheGeneticsandMedicineHistoricalNetwork
and held as satellite meetings of the European Human Genetics Conference of
TheEuropeanSocietyofHumanGenetics(ESHG).Theprogrammesaredescribed
inChap.2andcanbefoundinfullintheappendix.
1VogelandMotulsky1986,9—Consideringalsotheinteractionsofothernaturalscienceswith
society,onemayquestiontheemphasisthatVogelandMotulskyputherebyonhumangeneticsin
oppositetoothernaturalsciences.
H.I.Petermann,Ph.D.,M.A.(*)
Institutfu¨rEthik,GeschichteundTheoriederMedizin,WWU,Münster,Nordrhein-Westfalen,
Germany
e-mail:[email protected]
P.S.Harper,Prof.em,M.A.,M.D.
InstituteofMedicalGenetics,CardiffUniversity,Cardiff,UK
e-mail:[email protected]
S.Doetz,M.D.
Institutfu¨rGeschichtederMedizinundEthikinderMedizin,Berlin,Germany
e-mail:[email protected]
©SpringerInternationalPublishingAG2017 1
H.I.Petermannetal.(eds.),HistoryofHumanGenetics,
DOI10.1007/978-3-319-51783-4_1
2 H.I.Petermannetal.
Parts I–VI reflect on the workshops as satellite meetings of the ESHG confer-
ence, from the beginnings to narrated history. The topics varied and highlighted
manydevelopmentsinthehistoryofhumangeneticssuchastheoriginsofhuman
heredity, diagnostic applications and the development of the field in different
countries. The workshops were funded by the Wellcome Trust, ESHG and the
DeutscheForschungsgemeinschaft(DFG).2
ThecontributionstoPartVIIongeneticcounsellingarebasedontheworkshop
The Establishment of Genetic Counselling in the Second Half of the Twentieth
Century.Thisworkshoptook place at theInstituteofthe History ofMedicineand
Ethics in Medicine of the Charite´ in Berlin in February 2016 and was funded by
theDFG.
Thisvolumereflectsondifferenttopicsandstartswiththebeginningsofhuman
genetics. Already in ancient times first considerations and thought on the inherited
differencesofmanweremade.Plato(428/423–348/347BC)wroteinhisstateutopias
howcarefullyapartnerforproducingchildrenshouldbeselected.AlsoinEpicurean
philosophyancestralconceptswerefound(C.Yapijiakis).Thenforalongtime,the
question of heredity was no longer of interest until in 1605 Luis Mercado
(ca. 1520–1606) published De Morbis Hereditariis. This publication was followed
by similar ones in the following years. More than two hundred years later, Joseph
Adams (1756–1818) published his influential book A Treatise on the Supposed
Hereditary Properties of Diseases based on Clinical Observations (1814). But the
question,howdoeshereditywork,wasstillunsolved.Inthemiddleofthenineteenth
century, two important publications were made: polymath Francis Galton
(1822–1911) published Hereditary talent and character (1866) and therefore is
regarded as the founder of biometry.3 The monk Gregor Mendel (1822–1884)
experimenting with peas announced his attempts with plant hybrids in 1866
(Versucheu€berPflanzenhybride)andsetuptheparadigmofMendelism.Butitwas
notuntilthetwentiethcenturythatWilliamBateson(1861–1926)namedin1906the
newscience“genetics”andinfluencedtheBritishMedicalSocieties(A.Rushton).
After the heredity of characteristics and qualities was recognised, the first
attempts were made to diagnose dispositions and diseases as genetic. This was
done using pedigrees (P. Wilson) and family histories (T. Pieters). But the results
could lead to genetic discrimination of patients (S. Snelders). The description of
GeneticimplicationofthestructureofdeoxyribonucleicacidbyFrancisH.C.Crick
(1916–2014)andJamesD.Watson(b.1928)wasthestartingpointforthegenome
concept.Thisbegantoinfluencehumangeneticsaswellasmolecularbiologyand
raised the questions of its influence (R. Noguera Solano). At least, uncertainty
gainedimportanceindiagnosis(R.Pyeritz).
Did human genetics deal in all countries with the same questions? The special
situationinSwitzerlandisreflectedintheresearchonalpineisolates(P.Germann).
InScandinavia,theinteractionbetweengeneticsandpoliticsisexplored(N.Roll-
Hansen). The situation in Germany after 1945 is described for the western
2SeeprogrammesintheappendixofChap.2.
3VogelandMotulsky1986,11.