Apocalypse... N ow? M olecular epidemiology,
predictive genetic tests, and social
communication of genetic contents
Ap o c alip se ... Ag o ra? Ep id e mio lo g ia mo le c ular,
te stag e ns g ê nic as p re d itivas, c o munic aç ão so c ial
d e c o nte úd o s g e né tic o s
1 Departam en to de Ep id em iologia e M étod os Qu an titativos em Saú d e, Escola N acion al d e Saú d e Pú blica, Fu n d ação Osw ald o Cru z . Ru a Leop old o Bu lh ões 1480, sala 829, Rio d e Jan eiro, RJ 21041-210, Brasil. castiel@m an gu in h os.en sp. fiocru z .br
Lu is David Castiel 1
Abstract Th e au th or an alyzes th e u n d erlyin g th eoretical asp ects in th e con stru ction of th e m ol-ecu lar w at ersh ed of ep id em iology an d t h e con cep t of gen et ic risk , focu sin g on issu es raised by con tem p orary reality: n ew tech n ologies, globaliz ation , p roliferation of com m u n ication s strate-gies, an d th e d ilu tion of id en tity m atrices. He d iscu sses p roblem s p ertain in g to th e establish m en t of su ch n ew in terd iscip lin ary field s as m olecu lar ep id em iology an d m olecu lar gen etics. Fin ally, h e an alyzes th e rep ercu ssion s of th e social com m u n ication of gen etic con ten t, esp ecially as relat-ed t o p rrelat-ed ict iv e gen et ic t est s a n d clon in g of a n im a ls, b a srelat-ed on t riu m p h a l, d et erm in ist ic m etap h ors su stain in g beliefs relatin g to th e existen ce an d su p rem acy of con cep ts su ch as ‘p u rity’, ‘essen ce’, an d ‘u n ification’ of ration al, in tegrated ‘I’s/egos’.
Key words Risk ; Molecu lar Ep id em iology; Med ical Gen etics; Gen etic Tech n iqu es
Resumo Abord am -se asp ectos teóricos su bjacen tes à con stru ção d a verten te m olecu lar d a ep i-d em iologia e i-d o con ceito i-d e risco gen ético, ten i-d o com o referên cia as qu estões p ostas p ela atu ali-d aali-d e: n ovas tecn ologias, globaliz ação, p roliferação ali-d e estratégias com u n icacion ais, ali-d ilu ição ali-d e m atrizes id en titárias. São d iscu tid os p roblem as relacion ad os à con stitu ição d e n ovos cam p os in -terd iscip lin ares, tais com o os d a ep id em iologia e d a gen ética m olecu lares. Ao fin al, d esen volve-se u m a an álivolve-se d as rep ercu ssões n a com u n icação social d e con teú d os gen éticos, esp ecialm en te referid os a testagen s gen éticas p red itivas e à clon agem d e an im ais, a p artir d e m etáforas triu n fa list a s, d et erm in ist a s e su st en t a d ora s d e cren ça s rela t iv a s à ex ist ên cia e su p rem a cia d e con -ceitos com o p u reza, essên cia e u n ificação d e eu s/egos racion ais e in tegrad os.
“Disease Con trol: A p roliferation of im agin ary
d iseases m ay soon be ex p ected , satisfyin g ou r n eed for a corru pt version of ou rselves; Epidem i-ology: Catastrop h e th eory in slow m otion .” Ja m es Gra h a m Ba lla rd .
Introduction?
Th e a b ove q u o t e is b y o n e o f t h e m o st a c -cla im e d a u t h o rs fro m wh a t is -cla ssifie d a s t h e ‘sc ie n c e fic t io n’ ge n re (a lt h o u gh h e h a s a lso p rod u ced n on -scien tific stories): J. G. Ballard . It is o n e o f th e e n trie s fro m h is Project for a
glos-sary of th e Tw en tieth Cen tu ry (Ba lla rd , 1992), resu ltin g fro m h is ed ito r h a vin g p resen ted h im with a series of top ics on wh ich to d evelop id eas a n d fre e a sso c ia t io n s. He re, t h e ‘c a t a st ro p h e th e o r y’ o f e p id e m io lo gy d o e s n o t a p p e a r to b e d ealin g with th e m ath em atical ap p roach to d is-co n t in u it ie s a s p ro p o se d b y Th o m (1985), b u t t o t h e u su a l n o t io n o f ‘d isa st ro u s’. Pro ce e d in g wit h t h is lin e o f in t e r p re t a t io n , we p re su m e m o d e r n e p id e m io lo gy t o b e t h a t o f Ba lla rd ’s re fe re n ce, i.e., o n e o f t h e d iscip lin e s re sp o n si-b le fo r th e d escrip tio n a n d a n a lysis o f m u ltip le r isk fa ct o rs h ove r in g m e n a cin gly ove r a ll o f u s in th e d aily life of con tem p orary societies. ‘Slow m o t io n’ su gge st s a n o n - im m e d ia t e in t e r va l o f ch ron ological tim e b etween exp osu re to th e n u -m erou s risk factors an d th e p resu -m ed d ire fate... Th e c o n c e p t o f r isk c a n b e d e m a rc a t e d with in a se m io tic o p e ra tio n b y wh ich to b e tte r u n d e r st a n d it s sp in - o ffs (Figu re 1). Ba se d o n Sam aja (1997), let u s con sid er th e variou s term s Tn , wh ere:
a ) t h e re la t io n sh ip b e t we e n T1 a n d T2 is th a t o f ‘co n tra rin ess’;
b ) t h e re la t io n sh ip s b e t we e n T1 a n d - T1 a n d T2 a n d -T2 a re th o se o f ‘co n tra d ictio n’.
Th e n o n - h e a lt h y st a t e it se lf c o u ld c o e xist wit h t h a t o f n o n d ise a se d (fo r t h e t im e b e
-in g...), b u t d u e t o t h e virt u a lit y o f risk (i.e., t h e p o ssib ilit y t h a t t h e re sp e ct ive d ise a se will m a -teria lize a t a n y m o m en t), th e fa ct th a t o n e is in a sit u a t io n o f h e a lt h - a t - r isk m e a n s b e in g t h e ca rr ie r o f a we a kn e ss t h a t d e m a n d s t h e a d o p tion of p rotective/ p reven tive m ea su res. A sp in -off of th is ch art is to con ceive of an ‘ep id em ic’ of p re d ise a se s, re p re se n t e d b y t h e va r io u s n o n -h e a lt -h y in d ivid u a ls, o r o n e s w-h o a re -h e a lt -h y, b u t su b ject to on e or m ore of th e va riou s p ossi-b le risks.
Th is co n d it io n a lso h a s t h e d u b io u s vir t u e o f b e c o m in g a ‘r isk fa c t o r’ p e r se b y in va d in g a n d a ffe c t in g o u r im a gin a t io n , b e c o m in g a st re ss fa c t o r t h a t c a n le a d t o va r io u s fo r m s o f fa llin g ill. Ta ke a h yp oth etica l exa m p le: in d ivid -u a ls kn owin g t h a t t h e y h a ve h igh c h o le st e ro l ra tes ra ise th eir level of ‘a n xiety/ stress’, th ereby exp a n d in g th eir ca rd iova scu la r risk p ro file.
Th is sc e n a r io e n t a ils a n e w n o t io n o f h y-gie n e ( Va z, 1997). Th e co n te m p o ra r y h yy-gie n ist a p p ro a ch fo cu se s p rim a rily o n co n tro llin g risk b e h a vio r s re la t e d t o so - c a lle d life st yle s, i.e., wa ys o f e a t in g, d r in kin g, h a vin g se xu a l re la tion s, ta kin g p h ysica l exercise, u sin g or refra in -in g fro m u s-in g d r u gs, d e a l-in g wit h d a ily st re ss a n d t ra gic life e ve n t s, e t c. Howe ve r, it is n o t u su a lly fe a sib le, in th e fa ce o f su ch a va rie ty o f risk fa cto rs (o r te m p ta tio n s) to a vo id a ll p o ssib le so u rce s o f e xp o su re. Ba se d o n t h e circu m -sta n ces, th e risks m a y b ecom e p ossib le wa ys of d ea lin g with life’s d em a n d s.
In o t h e r wo rd s, it is im p o r t a n t t o d ist in -gu ish t h e e le m e n t s sh a p in g t h e e p id e m ic s o f wish es – or d esires – (Sed gwick, 1992), sin ce th e b o rd e r s a re n o t cle a r b e t we e n ‘a d d ict ive’ (a b n o r m a l/ sick) st a t e s a n d ‘n o n a d d ict ive’ (n o r -m a l/ h ea lth y) on es, to th e p oin t of ou r rea ch in g a p p a re n t ly p a ra d oxica l sit u a t io n s: in d ivid u a ls t h a t a re ‘d e p e n d e n t’ o n su b st a n c e s a n d c o m p u lsive (yet su p p o sed ly) h ea lth y b eh a vio rs, in -clu d in g st r ict d ie t s wit h n o e vid e n ce o f a ct u a l n eed , in d iscrim in a te p op p in g of vita m in s, a b u -sive p h ysic a l e xe rc ise, e t c. In c o n t e m p o ra r y Western societies, cen tered on th e con cep t of a core cogn itive-volitive id en tity (ca lled I/ ego), it is d ifficu lt t o e sca p e fro m t h e ‘co rr u p t ve rsio n o f o u r se lve s’. No m a t t e r h ow m u ch willp owe r o n e (e go is t ic a lly) h o p e s t o h a ve (in fa c t , t h e st re n gt h t o d o m in a t e t h e in vo lu n t a r y/ u n co n s c io u s ), t h e m o re t h e la t t e r in s is t s o n c r o p -p in g u -p ...
Mod ern An glo-Saxon ep id em iology is kn own fo r it s t ra d it io n o f a vo id in g cr it ica l st a n ce s t o -wa rd s th e d iscip lin e’s own fa ilu re to d em a rca te t h e im p o r t a n c e o f p syc h o lo gic a l, so c ia l, e c o -n o m ic, cu ltu ra l, h isto rica l, a -n d p o litica l fa cto rs (a m o n gst o t h e r s) in t h e ge n e sis a n d d e ve lo p
-Fig ure 1
Use o f the ‘ se mio tic sq uare ’ to he alth state (Samaja, 1997:300).
He althy (T1) Dise ase d (T2)
No n-d ise ase d (-T2) No n-he althy (-T1)
m e n t o f d ise a se p ro c e sse s. St ill, re se a rc h e r s fro m t h is wa t e r sh e d h a ve in cre a sin gly re co g-n ize d sigg-n s o f st ra ig-n ig-n r isk- fa ct o r e p id e m io lo gy a n d t h e n e e d flo r lo t h e r wa ys lo f a p p rlo a ch -in g e p id e m io lo gy (Krie ge r, 1994; Pe a rce, 1996; Su sse r & Su sse r, 1996a , 1996b ; Sh y, 1997). Th is a p p e a rs to co n stitu te a ta rd y re co gn itio n o f is-su e s ra ise d sin ce th e m id -1970s b y th e Ma rxist e p id e m io lo gica l wa t e rsh e d , im p ro p e rly ca lle d ‘so cia l ep id em io lo gy’ (we will get b a ck to th is). On e m igh t we ll a sk if it wa s n e c e ssa r y fo r t h e ce n t ra lize d e co n o m ie s t o fa ll in o rd e r fo r e p id em io lo gists fro m th e so ca lleid a id va n ceid ca p -ita list co u n trie s to a llow th e m se lve s to d iscu ss t h e re le va n ce o f so cio e co n o m ic fa ct o rs in t h e in d ivid u a l a n d co llective d isea se p ro cess with -o u t r u n n in g t h e r isk -o f d e fe n d in g wh a t m igh t h a ve b een b ra n d ed a s co m m u n ist id ea s...
At a n y ra t e, a lo n g wit h so m e u n d e n ia b le ga in s in h ea lth -rela ted kn owled ge (with sp ecia l em p h a sis o n th e em b lem a tic stu d ies o n sm o k-in g a n d lu n g ca n ce r), o n e co u ld b rie fly a scrib e a se rie s o f sid e e ffe cts to ‘risk-o lo gic’ e p id e m i-ology: “bioph ysiologic redu ction ism , absorption by biom ed icin e, a lack of real th eory abou t d is-ease cau sation , d ich otom ou s th in k in g abou t d isease (everyon e is eith er h ealth y or sick ), a m aze of risk factors, con fu sion of observation al association s w ith cau sality, d ogm atism abou t w h ich stu d y d esign s are accep table, an d exces-sive rep etition of stu d ies. (...) [T ]h is ap p roach d iverts lim ited resou rces, blam es th e victim , p rod u ces a lifestyle ap p roach to social p olicy, decon textu alizes risk beh aviors, seldom assesses th e relative con tribu tion of n on m od ifiable ge-n etic factors age-n d m od ifiable social age-n d beh av-ioral factors, an d p rod u ces in terven tion s th at can be h arm fu l. Th ese tren d s are p articu larly n oticeable in th e recen t rise of m olecu lar ep i-d em iology, esp ecially in th e ren ew ei-d em p h asis on issu es of in d ivid u al su scep tibility” (Pe a rce, 1996:679).
So m e o f th ese to p ics will b e d evelo p ed fu r-th e r ove r r-th e co u rse o f r-th is p a p e r. Fo r r-th e tim e b ein g let u s tu rn b a ck to Ba lla rd . Kn own fo r h is ca ta clysm ic in clin a tio n s towa rd s th e tria ls a n d t r ib u la t io n s o f We st e r n so c ie t ie s, t h is fa c e t cro p s u p in va rio u s p a rt s o f Ba lla rd ’s wo rk, e s-p e c ia lly in t h e b o o k Crash ! (t h e b a sis fo r t h e film by th e sa m e n a m e) first relea sed in En glish in 1973. In h is in t ro d u ct io n t o t h e Fre n ch e d i-t io n (p u b lish e d in 1974), Ba lla rd in d ica i-t e s i-t h e in it ia l m a n ife st a t io n s o f t h e e ffe ct s o f t e ch n o -scie n ce s o n co n te m p o ra r y so cia l re la tio n s, th e re gim e o f wh ich h a s b e e n fu r t h e r co n so lid a t e sin ce th e b o o k ca m e o u t (Ba lla rd , 1988).
We sim u lt a n e o u sly h a ve n e w t e ch n o lo gie s a n d t h e ir co rre sp o n d in g re p e rcu ssio n s: in t h e
e xp a n sio n a n d ve lo c it y o f c irc u la t io n o f e c o -n om ic exch a-n ges (glob alizatio-n ), i-n th e p rolifer-ation of com m u n icrolifer-ation s strategies, in th e crisis o f m e a n in g, in t h e m u lt ip lica t io n a n d d ilu t io n o f id en tity m a trices, in th e wid esp rea d clim a te o f a m b igu it y a s t o in d ivid u a ls’ p ro sp e c t s fo r o rien tin g th em selves in th e sh o rt term .
Am a ra l (1996) ca lls th is tim e ‘a ctu a lity’, u s-in g t h e m e t a p h o r o f t h e m a ze o r la b yr s-in t h t o rep resen t it. We live u n d er th e a egis of Pa ra d ox, “beyon d th e classic dich otom ies of op in ion an d tru th , com m on sen se an d scien ce, con sciou s an d u n con sciou s, illu sion an d reality” (Am aral, 1996: 24). An oxym o ro n ic cu ltu re, sin ce a cco rd in g to th is a u th o r its ch a ra cteristics a re th e fo llowin g: vir t u a l co n sist e n cy, a n u n d iffe re n t ia t e d fra m e o f re fe re n ce, a n d t r u t h in sim u la t io n (Am a ra l, 1996). In o t h e r wo rd s, t h e re is le ss a n d le ss ro o m fo r syn th esis (in th e Hegelia n sen se). It is n e ce ssa r y t o co e xist wit h d iffe re n t (a n d o cca -sio n a lly o p p o sin g) p o in t s o f vie w, wit h n o p ro sp e ct s fo r re a ch in g a co n clu sive syn t h e sis ( Tso u yo p o u lo s, 1994).
Acco rd in g t o Ba lla rd : “th e m ain ‘fact’ of th e 20th cen tu ry is th e con cep t of u n lim ited p ossi-bility. Th is p red icate of scien ce an d tech n ology em p h asizes th e n otion of a m oratoriu m on th e p ast th e irrelevan ce an d even th e d eath of th e p ast an d th e u n lim ited op p ortu n ities available for th e p resen t. (...) th e fu tu re is also failin g to ex ist, d evou red by a p resen t th at is all vora-ciou sn ess. We appen d th e fu tu re to ou r ow n pre-sen t, as sim p ly on e m ore altern ative am on g th e m an y op en to u s. Th e op tion s m u ltip ly arou n d u s, w e live in alm ost a ch ildlik e w orld in w h ich an y d em an d , an y p ossibility, w h eth er lifestyles, trip s, sexu al roles or id en tity can be m et im m e-d iately” (Ba lla rd , 1988:6- 8; re t ra n sla t e d fro m Portu gu ese – tra n sla tor’s n ote) (A p roviso to th e a b ove : a s lo n g a s o n e h a s t h e b u yin g p owe r t o co n su m m a te su ch d em a n d s...).
Sym p t o m a t ica lly, t h e ro le s re se r ve d fo r re -a lity -a n d fiction h -a ve b een tu rn ed -a rou n d . “(...)
We live in a w orld govern ed by fiction s of all sorts: m ass m erch an disin g, advertisin g, p olitics con d u cted as a bran ch of ad vertisin g, th e in -stan tan eou s tran slation of scien ce an d tech n ol-ogy in to p op u lar im ages, th e grow in g m ix tu re an d in terp en etration of id en tities in th e realm of con su m er goods, television’s appropriation of an y free or origin al im agin ative resp on se to ex-p erien ce. Ou r life is on e big soaex-p oex-p era (...)”
(Ba lla rd , 1988:8; re t ra n sla t e d fro m Po rt u gu e se – t.n .).
in gs o f re se a rch in b io ch e m ist r y (in D N A m a -n ip u la t io -n ), i-n ge -n e t ics (a t t h e i-n d ivid u a l le ve l), in m o lve cu la r ve p id ve m io lo gy (a t th ve p o p u la t io n le ve l)? Th is is a d iffic u lt q u e st io n t o a n s we r. In d e e d , a m b igu it y m a r ks t h e m a n y is su es ra ised by co n tin u o u s b io tech n o lo gica l a d -va n c e s. Nu m e ro u s sit u a t io n s a r ise in wh ic h sc ie n t ific p ro gre ss h a s t wo sid e s, a d va n t a ge s a n d d isa d va n t a ge s. Fo r e xa m p le, kn owle d ge fro m t h e Hu m a n Ge n o m e Pro je c t will fo st e r b o t h p re ve n t io n a n d se gre ga t io n , n e w re p ro -d u c t ive t e c h n iq u e s p rovi-d e p o ssib ilit ie s fo r so lvin g in fertility p ro b lem s, b u t th ey a lso ra ise n ew a n d d ifficu lt lega l a n d m o ra l issu es (Lo la s, 1997).
Ye t n e ve r b e fo re h a s h u m a n kin d e xp e r i-e n ci-e d a sit u a t io n liki-e t h a t o f t o d a y. Du i-e t o t h i-e p a roxysm a l d isse m in a tio n o f b io te ch n o lo gica l co n t e n t b y t h e m a ss co m m u n ica t io n s m e d ia , th e so-ca lled la y p u b lic wa tch es fa scin a ted a n d b e wild e re d th e p ro life ra tio n a n d ju xta p o sitio n of ‘fa ctu a l’ n ews rep orts a n d litera ry, cin em a to-gra p h ic, a n d televised sto ries fo cu sin g o n m o l-e cu la r b io lo gy. Fo r l-e xa m p ll-e : p a t l-e rn it y in vl-e st i-ga t io n , p re d ic t ive ge n e t ic t e st s fo r c h ro n ic , n o n - in fe ct io u s d ise a se s, in vit ro fe r t iliza t io n , a n d c lo n in g o f h u m a n b e in gs h a ve b e c o m e t h e m e s fo r t h e ‘fict io n’ p lo t s p re se n t e d b y t h e leisu re a n d en terta in m en t in d u str y.
Now com es th e tim e to exp lain th e b om b as-tic ton e of th e title. Th e term ‘ap ocalyp se’ stem s fro m t h e Gre e k ap ok alu p sis, m e a n in g re ve la -t io n , u n ve ilin g, d iscove ry. No t h in g co u ld b e m o re su gge st ive o f t h e p o ssib ilit ie s cre a t e d b y t h e t e ch n o b io scie n ce s, e sp e cia lly b y ge n e t ic m an ip u lation tech n iq u es, in th e q u est for com -p e t e n cie s a llowin g t h e h u m a n b o d y t o ove r-co m e it s r-co rre sp o n d in g b io lo gica l lim it a t io n s, th ro u gh th e rep ro gra m m in g o f th e ver y sta tu te of th e h u m a n sp ecies (Sch ra m m , 1996).
Th is p o in t o f vie w t ra n sm it s a n im a ge o f two sid es, com b in in g b oth th e n eed a n d fearof u n veilin g ou r d eep est gen om ic tru th s, sin ce for t h is t o o c c u r we m u st m a n ip u la t e d o m a in s h e re t o fo re vie we d a s a lie n t o o u r wo r ld ly d e -sire s a n d p e r t a in in g t o t h e d ivin e d e sign s o f h ered ity a n d p ro crea tio n .
Alo n g t h is lin e o f re a so n in g, ‘a p o c a lyp se’ p e r t a in s t o e ve n t s a n d p re d ic t io n s fro m t h e p a st t h a t a re re vie we d o n t h e b a sis o f p re se n t fa c t s a n d t h e ir fin a l c o n su m m a t io n . In t h is se n se, fro m a n e p id e m io lo gic a l re a d in g, o u r p ro b a b ilit ie s o f fa llin g ill, b a se d o n e xp o su re p a t t e r n s a n d a t t r ib u t e s c o n st r u c t e d t h ro u gh risk-factor ep id em iology an d with ou t u n veilin g cau sal m ech an ism s, ap p ears to b e ap p roach in g a d iscovery of n ew elem en ts in ca u sa l n etworks t h ro u gh a n e xp a n sio n o f ge n e t ic kn owle d ge.
Bu t a s we sh a ll see, th e m a gn itu d e o f th e ‘reve-la tio n’ sh o u ld b e viewed in with a gra in o f sa lt. It sh o u ld b e cle a r t h a t t h is p a p e r is n o t in -te n d e d to d e ve lo p p ro p o sa ls to e ith e r a p p e a se or terrify p oten tia l rea d ers. I b elieve th a t we a re a lre a d y e xp e r ie n c in g t h e m in o u r d a ily ro u -tin es, with th e cu rren t d izzyin g sta te of tech n o-scie n tific ch a n ge s, with co m p le x a n d d ifficu lt-to-assess p sych ological an d sociocu ltu ral rep er-cu ssion s.
Ou r go a l is to fin d so m e d e gre e o f in te lligi-b ilit y in t h e c u r re n t sit u a t io n lligi-b y in t e r p re t in g fra gm en ted elem en ts a n d in d ica tors, a ssu m in g t h e r isks o f e r ro r s in t h e a n a lyt ic a l p ro p o sa ls fo c u sin g o n su c h a n in t r ic a t e sit u a t io n . All o f t h e it e m s t o b e a n a lyze d in t h e a r t ic le c a n b e ch a llen ged in term s o f th eir resp ective sta tu tes o r d e gre e s o f p e r t in e n c e. Th a t is, d isc u ssio n s ra ise d b y th e to p ics h e re in m a y a lso b e vie we d a s ir re le va n t b y so m e, wh o m a y fe e l t h a t su ch fie ld s a re n o t e ve n su fficie n t ly we ll-d e fin e d t o m erit th eir own sp ecific a n a lyses.
Th e re is n o co n se n su s a s to th e e m e rge n ce o f n e w d isc ip lin e s o r wa t e r sh e d s in vo lve d in th e u se o f a d je ctive s to d e scrib e th is situ a tio n . Acco rd in g a vie w wh ich I co n sid e r stru th ifo rm (i.e., o st rich -like ), t h e re is n o ‘n e w ge n e t ics’ o r ‘m o le cu la r e p id e m io lo gy’ a t a ll, n o r a re t h e is-su e s o f t h e p u b lic’s u n d e r st a n d in g o f ge n e t ic co n te n ts p e rtin e n t to th e scie n tific d o m a in . At a n y ra t e, su c h p o sit io n s se r ve a s sign s o f t h e la ck o f u n d e rsta n d in g with in a n d a m o n gst th e va rio u s field s in vo lved .
M olecular epidemiology, with or without quotation marks?
How d o es o n e d efin e m o lecu la r ep id em io lo gy? Sim p ly sp ea kin g, it co n sists o f th e u se o f m o le-cu la r b io lo gica l m e a su re m e n ts a n d m a rke rs in e p id e m io lo gica l in ve st iga t io n . Th a t is, it st u d -ie s t h e re la t io n sh ip s b e t we e n e xp o su re a n d d ise a se in p o p u la t io n s, u sin g m e t h o d o lo gica l tech n iq u es p rop er to ep id em iology. Th e n eces-sary q u an tification an d m easu rem en t are b ased o n m o d e r n m o le c u la r b io lo gic a l la b o ra t o r y t e c h n iq u e s, a im e d a t : a ) d ire c t d e t e c t io n o f ch a n ges in m olecu la r stru ctu res (b oth in h a rm -fu l a ge n t s a n d in d ivid u a ls su sc e p t ib le t o d is-e a sis-e ) b ) in d iris-e ct d is-e t is-e ct io n u sin g im m u n o lo gi-c a l t e gi-c h n iq u e s t o e st a b lish t h e e xist e n gi-c e o f sp e cific m o le cu le s fro m give n p ro d u ct s d e t e r-m in ed by gen e a ctivities. Th e origin of th e terr-m d a t e s t o c a n c e r e p id e m io lo gy st u d ie s u sin g m olecu la r b ioch em ica l tech n iq u es in th e 1980s (McMich a el, 1995).
It a lso serves to: 1) d elin ea te th e gra d ien t of even ts b etween exp o su re a n d d isea se: in tern a l d o se, b io lo gica lly e ffe ct ive d o se, e a rly b io lo gi-ca l e ffe ct , a lt e re d fu n ct io n / st r u ct u re, clin igi-ca l d isea se, a n d p ro gn o stic sign ifica n ce; 2) id en ti-fy exp osu res to lower or old er exp osu res to p re-su m ed h a rm fu l a gen ts; 3) red u ce cla ssifica tio n erro rs in exp o su re a n d d isea se va ria b les; 4) in -d ica t e m e ch a n ism s; 5) i-d e n t ify t h e ro le o f e x-p o su re t o give n fa ct o rs in in d ivid u a l su sce x-p t i-b ilit y a n d re sp o n se va r ia i-b ilit y; a n d 6) e xp a n d t h e ve r ifica t io n o f r isk le ve ls in in d ivid u a l a n d gro u p term s (Sch u lte & Perera , 1993).
Eve n so, t h e cu rre n t st a t e o f t h e m o le cu la r a r t a llows u s t o o b se r ve h ow e xp o su re t o p re -su m ed extern a l ca rcin ogen s lea d s to m u ta tion s in t h e DN A o f re ce p t o r t issu e s (a d d u ct s). Th is d o e s n o t n e ce ssa rily m e a n e st a b lish in g ca u sa l lin ks, sin ce elem en ts a re still m issin g a t th e in d ivid u a l le ve l t o su st a in t h e re la t io n sh ip b e -t we e n su c h m o le c u la r a l-t e ra -t io n s a n d c a n c e r gen esis (McMich ael, 1995). In oth er word s, even wit h vigo ro u s e vid e n c e t o su st a in t h e ro le o f d e t e r m in a t io n p la ye d b y give n b io m a rke r s in ca rcin o ge n e sis, e xce p t io n s t o a sso cia t io n s re -viewed a s ca u sa l a re n ot u n con d ition a lly elim i-n a ted ( Vii-n eis & Porta , 1996).
Th ere is even a ‘m olecu lar’ watersh ed with in th e ep id em io lo gy o f in fectio u s/ co n ta gio u s d is-eases, th e p rin cip les of wh ich are worth an alyz-in g. Ba ct e r ia l ge n e s co d alyz-in g fo r m o le cu le s p e r-fo r m in g a ct ivit ie s in t h e b a sic m a in t e n a n ce o f th e m icroorgan ism’s stru ctu re/ fu n ction d id n ot u n d e rgo a n y m a jo r ch a n ge s ove r t h e co u rse o f e vo lu t io n . On t h e o t h e r h a n d , o t h e r ge n e s u n -d e rgo st ro n g se le ct ive p re ssu re, su ch a s t h o se
c o d in g fo r c e ll m e m b ra n e p ro t e in s. Ba se d o n t h e c o m m o n o r igin o f t h e m e d ic a lly re le va n t b acteria, on e can con stru ct th e resp ective evolu tion ary trees b ased on an alysis of th e gen es cod -in g for th ese con stan t m acrom olecu les (McDad e & An d erso n , 1996).
Gen e 16s of rib osom a l RNA h a s p roven u sefu l in th is rega rd a n d is m eta p h o rica lly co n sid e re d a ‘m o le cu la r clo ck’ in t h e se n se t h a t it in -d ic a t e s t h e e vo lu t io n a r y -d ist a n c in g b e t we e n t wo b a c t e r ia ove r t im e, i.e., in p h ylo ge n e t ic a n a lysis. Usin g t h e p o lym e ra se ch a in re a ct io n (PCR), t h e lin e a r ge n o m ic se q u e n c in g o f t h e con stitu en t n u cleotid es of th e 16s rRNA gen e is d e te rm in e d fo r give n sp e cie s a n d is co m p a re d wit h t h a t o f o t h e r sp e c ie s, st o re d in ad h oc
d a ta b a ses. Th u s, p reviou sly d escrib ed b a cteria l sp e cie s a re id e n t ifie d b y ge n o m ic se q u e n cin g, a n d n e w sp e cie s ca n b e p h ylo ge n e tica lly p o st io n e d b y d e st e c st in g st h e sp e c ie s- sp e c ific va r i-a b le regio n s o f th e 16s rRNA gen e.
An a lysis of th e seq u en cin g of oth er va ria b le ge n e s sp e c ific t o b a c t e r ia l gro u p s is u se d fo r t yp in g st ra in s a n d id e n t ifyin g d iffe re n ce s b e -t we e n su ch b a c-t e ria . Al-t h o u gh i-t is im p o ssib le to con stru ct a n evolu tion a ry tree for a ll viru ses, sin c e t h e re a re n o c o n se r ve d m o le c u le s a s in b acteria, th ere are con served an d variab le gen es t h a t a llow fo r t h e id e n t ific a t io n o f re la t io n s with in th e gro u p s (McDa d e & An d erso n , 1996). Su ch p roced u res serve to: 1) stu d y ou tb rea ks of d isea ses of u n kn own origin (e.g., h a n ta viru s, a re sp ira t o r y d ise a se wit h a h igh ca se fa t a lit y); 2) d e t e ct io n a n d id e n t ifica t io n o f b a ct e r ia re -sist a n t t o c u lt u r in g (e.g., Wh ip p le’s d ise a se, a system ic d isea se in vo lvin g a rth ra lgia , a b d o m in a l p a iin , d ia r r h e a , m a la b so r p t io in , a in d wa st -in g); 3) e st a b lish -in g u n u su a l m o d e s o f t ra n s-m issio n o f d ise a se s (e.g., AID S a n d H IV- p o si-tive d en tists); 4) verifica tion of lon g in cu b a tion p erio d s in ra b ies in fectio n – a b ite o ccu rrin g in a n im m igra n t in h is c o u n t r y o f o r igin m o re th a n six yea rs p reviou sly; 5) p a leom icrob iology – ge o gra p h ic id e n t ific a t io n o f t h e o r igin o f retroviru s stra in s, a s fo r H IV, H TLV-I- (McDa d e & An d erso n , 1996).
Th e c o n t rove r sie s ove r wh e t h e r t h e re is a well-d efin ed ‘m olecu la r’ sp ecia lty in ep id em io-lo gic a l d o m a in s c a n b e su m m e d u p in t h re e p o sitio n s. Th e re a re re se a rch e rs wh o ca te go rica lly re je ct t h e p o ssib ilit y, co n sid e r in g it a se rie s o f d e ve lo p m e n ts p ro p e r to a n e xistin g wa -t e rsh e d , -t h a -t o f ge n e -t ic e p id e m io lo gy (se e -t h e com m en ts of Moren o & Roth h am m er to th e p a-p er by Castiel – Castiel, 1994). Oth ers cau tiou sly p refer to u se th e exp ressio n in q u o tes, th u s in -d ica t in g t h e la ck o f co n se n su s a s t o it s a ct u a l
am b igu ity of th e d esign ation (McMich ael, 1995, Vin e is & Po r t a , 1996) (we w ill re t u r n t o t h is la t er). Still o th ers su sta in a m olecu larlegitim a -cy a n d sp ecificity in ep id em io lo gy, to th e p o in t o f p ro p o sin g it s p r in c ip le s a n d p ra c t ic e s, t h e su b -title o f a co m p e n d iu m a p p ro p ria te ly e n ti-t le d Molecu lar Ep id em iology (wit h o u t q u o t e s) (Sch u lte & Perera , 1993) a n d a lso in th e stu d ies o f in fe ct io u s/ co n t a gio u s d ise a se s (McDa d e & An d erso n , 1996).
Of cou rse th ere a re com p on en ts extra n eou s to scien ce in su ch q u a rrels, a m o n gst wh ich th e st r u ggle s fo r p re st ige, e sp e c ia lly a s re la t e d t o co m p etitio n over resea rch fu n d s b y va rio u s rese a rc h gro u p s. Th e ir re sp e c t ive o b je c t s o f re -sea rch a re a lwa ys m o re ‘releva n t’ th a n th o se o f o t h e r gro u p s a n d t h u s m o re wo r t h y o f t h e re -sou rces. Yet it is n ecessary to p rod u ce a rh etoric wh o se a rgu m e n t s a re n o t p re se n t e d a s su c h , i.e., wh ich is b a se d o n t e ch n ica l a n d scie n t ific re a so n s. Ta kin g t h e d isse n t in t o a cco u n t , I b e -lieve it is worth wh ile to a p p roa ch th e a ca d em ic e le m e n t s o f t h e se d e b a t e s, sin ce t h e y a llow u s to cla rify a sp ects p erta in in g to th e fo ca l issu es.
Why is it difficult to ‘molecularize’ epidemiology?
Th e re is d is c u s s io n u n d e r w a y o ve r w h e t h e r t h e u s e o f m o le c u la r b io m a r ke r s a s a t e c h -n iq u e fo r d a t a d e t e c t io -n / c o lle c t io -n is s u ffi-cie n t t o d e fin e a n d d e sign a t e a su b - sp e cia lt y. Mc Mic h a e l a r gu e s t h a t “an th rop om etric ep
i-d em iology, of qu estion n aires on occu p ation al an teced en ts” d o e s n o t e xis t . Th e re is n o d is -a greem en t o n th is p o in t. Bu t h e -a d d s th -a t “it is
ap p rop riate to su b-classify ep id em iology by field s of in vestigation of a given d efin ed con -ten t: clin ical, gen etic, en viron m en tal, an d so-cial epidem iology” (McMich a el, 1995:247).
Th is b rin gs u p issu es in volved in d em a rca t-in g su b -d iscip lt-in a ry b o u n d a ries a n d th e p o ssi-b ilit y o f in t e rp e n e t ra t io n o f t h e va r io u s a re a s. For exa m p le, th e ‘gen etic’ wa tersh ed m a y occa -sio n a lly overla p with th e ‘clin ica l’ o n e. Fu rth er, h ow is it p o ssib le to clea rly d istin gu ish th e ‘so -cia l’ fro m t h e ‘e n viro n m e n t a l’ fie ld o f in ve st i-ga tion ? We kn ow th a t ‘en viron m en ta l’ gen era lly re fe r s t o t h e e ffe c t s o f e xp o su re t o p o llu t a n t s o n h e a lt h , i.e., a t o xic o lo gic a l e p id e m io lo gy. Bu t it is u n sa tisfa cto r y to cu t th e ‘en viro n m en -ta l field’ a p a rt from th e ‘socia l field’ a n d a scrib e sp e c ific se p a ra t e id e n t it ie s t o t h e m . St r ic t ly sp e a kin g, t h e la t t e r e n c o m p a sse s t h e fo r m e r. Likewise, th ere a re overla p p in g a rea s: exp osu re to e n viro n m e n ta l p o llu ta n ts ca n ca u se ge n e tic d ise a se s. Aft e r a ll, d e sp it e Mc Mic h a e l’s c o n
-t e n -t io n , -t h e c o n -t e n -t s o f -t h e se re se a rc h fie ld s d isp la y gra y a rea s.
In d e e d , n o u n s a n d a d je ctive s a re b o rn a n d p ro sp e r (o r wit h e r ) re ga rd le ss o f t h e ir c o r re -sp o n d in g cu rren t ep istem o lo gica l a n d th eo ret-ica l re le va n ce. Fo r e xa m p le, in ch e m ist r y, t h e lo ss o f t h e o r igin a l, in d ivisib le e t ym o lo gic a l m ea n in g o f th e term ‘a to m’ h a s n o t m ea n t th a t h u m a n kin d h a s stop p ed u sin g th e word . In col-le c t ive h e a lt h , wit h t h e t e r m s ‘e p id e m io lo gy’ a n d ‘so cia l’, th e n o u n h a s lo n g sin ce su rp a ssed t h e o rigin a l m e a n in g o f t h e st u d y o f t h e in fe c-t io u s/ c o n c-t a gio u s d ise a se s c-t h a c-t a ffe c c-t p e o p le fro m a given co u n tr y. Th e a d jective, ch a ra cter-izin g th e La tin Am e rica n Ma r xist wa te rsh e d o f h ea lth stu d ies in p op u la tion s (em p h a sizin g soc ia l in e q u a lit ie s in t h e soc la ss st r u soc t u re o f p e -r ip h e -ra l c a p it a list so c ie t ie s a s a fu n d a m e n t a l e le m e n t in t h e d ise a se p ro ce ss, a s o p p o se d t o th e n atu ralized etiologic d eterm in ation of ‘clas-sical’ An glo-Saxon ep id em iology) is in ad eq u a te, sin ce it is im p o ssib le t o st u d y in a ‘n o n -so cia l’ wa y a n y h u m a n p o p u la tio n , wh ich is by n eces-sity socia lly stru ctu red ... Th u s, ep id em iologica l a p p ro a c h e s m u st t a ke so - c a lle d so c ia l issu e s in t o a cco u n t , e ve n wh e n su ch n o t io n s m a y b e flu id a n d d e p e n d e n t o n t h e o r ie s t h a t co n ce p -tu a lize so -ca lled so cia l rea lity.
In ou r op in ion , b a sed on recom b in a n t DNA tech n iq u es or gen etic m a n ip u la tion , it is p ossi-b le t o c o n c e ive o f ossi-b o t h a n e w ge n e t ic s a n d a m o le cu la r e p id e m io lo gy, e ve n if b o th a re a s re -su lt fro m t e c h n ic a l a d va n c e s d e r ivin g fro m o t h e r e st a b lish e d fie ld s. Ru n n in g t h e r isk o f oversim p lifica tio n , th e issu e is th e in terp reta -tio n o f th e m a gn itu d e a n d co n co m ita n t co n se-q u en ces o f tech n o lo gica l, m eth o d o lo gica l, a n d o p e ra t io n a l in cre m e n t s in give n re se a rch se c-t o r s, c-t o c-t h e p o in c-t o f ge n e ra c-t in g c-t h e p o ssib ilic-t y o f o p e n in g m u lt ip le p ro m isin g re se a rch fie ld s with in o th ers.
On e wa y th is ca n h a p p en is by tra n sp o rtin g in tern a l a ch ievem en ts from given field s to oth -e r d iscip lin -e s. Th is wa s h ow m o l-e cu la r b io lo gy em erged , b a sed on th e d iscoveries of p h ysicists in th e 1950s, with exp erim en ts u sin g X-ra y d if-fra c t io n t h ro u gh c r yst a llize d D N A, le a d in g t o th e th eo retica l p o stu la tio n o f th e ‘d o u b le h elix’ (Atla n , 1986).
re a c t io n a n d p ro d u c t io n o f m o n o c lo n a l a n t i-b o d ies) a n d i-b io in fo rm a tic m o d elin g.
Of cou rse on e cou ld argu e th at m olecu lar b i-o li-o gy rem a in s a fi-o rm i-o f b ii-o ch em istr y (Izq u ier-d o, 1996, o ra l co m m u n ica t io n ), wh ich in t u r n is a fo rm o f ch em istr y. Fu rth er, a t th e lim it, th e la t t e r ca n b e e xp re sse d in t e rm s o f t h e ge n e ra l la ws of p h ysics. We th u s fin d ou rselves slip p in g in e xo ra b ly d own th e slo p e o f h e a vy re d u ctio n ist re a so n in g, le a d in g t o t h e in e vit a b le ‘fin ish -in g l-in e’, wh e re a ll o u r scie n t ific e xp la n a t io n s en d u p a t th e p h ysica l/ ch em ica l lim it.
However, th ere is a wa y to a vo id th is a ttra c-t o r- p a c-t h wa y. Co n sid e r c-t h e e xisc-t e n ce o f a le ve l of b iologica l com p lexity in wh ich th e orga n iza -t io n o f a livin g b e in g is a lso gove r n e d b y la ws b eyo n d th e rea lm o f exp la n a tio n s b a sed exclu -sive ly o n c u r re n t p h ysic a l t h e o r ie s (wh ic h in tu rn la ck co n sen su s a s to th e lim its o f th eir va lid ity): b io lo gica l la ws refer to h isto rica l/ evo lu -t io n a r y e ve n -t s, o u -t o f e q u ilib r iu m , o c c u r r in g with in a n arrow ran ge of tem p eratu re, p ressu re, a n d ch em ica l co m p o sitio n (Ed elm a n , 1992).
In fa ct , a ll t h is d iscu ssio n e n d s u p e lu d in g th e cru x o f th e p ro b lem : th e fa ct th a t ep id em o lo gy a s a d isc ip lin e t e n d s t o b e d e fin e d p r i-m a rily a s a fu n ctio n o f it(s) i-m e th o d (s), sin ce it la c ks c o n s is t e n t t h e o r ie s c o n c e r n in g it s o b -je ct : h ow p o p u la tio n s fa ll ill. As p o in ted o u t b y Men d es-Go n ça lves (1992) th e cen tra l th eo reti-ca l issu e o f ep id em io lo gy is still th a t o f a cq u ir-in g con sisten cy as a th eory. Accord ir-in g to Krieger & Zierler (1996), th e th eo retica l co n texts in th e field a re th ree: 1) ep id em iologica l th eories, form u la tin g q u estio n s o n etio lo gy; 2) ca u sa l th eo -r ie s, c o n st it u t in g t h e b a sis fo -r m a t h e m a t ic a l m o d e lin g t o e xp la in d ise a se ca u sa t io n ; a n d 3) t h e o r ie s o n e r ro r, o r ie n t in g re se a rc h d e sign , a n a lysis, a n d in terp reta tio n o f fin d in gs.
Exa m p le s o f e t io lo gic t h e o r ie s in e p id e m io lio gy a s q u io t e d b y t h e a b iove m e n t iio n e d a u -th o rs a re “biom edical, lifestyle, cu ltu ral, beh
av-ioral, an d social produ ction of disease” (Krieger & Zie r le r, 1996:107). Th e y p ro ce e d t o se e k e x-p la n a t io n s fo r t h e d ist rib u t io n o f H IV/ AIDS in p op u la tion s a n d p resen t two d ifferen t th eoreti-ca l p a t h wa ys fo r t h is p u rp o se : ‘so cia l p ro d u ct io n’ a n d ‘life sct yle’, e m p h a sizin g ct h e im p o r -t a n ce o f -t h e -t h e o re -t ica l fra m e wo rk in d e fin in g re se a rc h id e a s, ge n e ra t in g h yp o t h e se s, a n d p ro d u cin g kn owled ge.
St ill, e a c h d ise a se e n t it y sh o u ld p o sse ss a m ix o f sp ecified exp la n a to r y elem en ts th a t a p -p e a r in a u n iq u e wa y fo r e a ch ca se (wh ich is a c a se ), b a se d o n t h e c h a ra c t e r ist ic s p ro p e r t o t h e e le m e n t s (in fe ct ivit y, p a t h o ge n icit y, vir u -le n c e, a n d im m u n o ge n ic p o t e n t ia l) in t h e ir ‘a ge n t / h o st / co n t e xt’ in t e ra ct io n s wh ich a re in
so m e wa y p e cu lia r t o t h e m . Th e re a re re a so n s le a d in g to d ise a se (o r to cu re ) th a t ca n b e ge n -e ra liz-e d , b u t in a jo in t s-e n s-e t h -e r-e a r-e a sp -e ct s u n iq u e to b o th gro u p s a n d in d ivid u a ls.
Exa m p le s: a ) in a so c io e c o n o m ic / c u lt u ra l fo rm a tio n wh ere b lo o d tra n sfu sio n s a re m o ra l-ly co n d e m n e d , b lo o d b o r n e co n t a gio n , p ro p e r t o give n d ise a se s, sh o u ld n o t b e e xp e c t e d t o h a ve th e sa m e releva n ce a s in situ a tio n s wh ere t h e re is wh a t we m igh t ca ll a b lo o d ‘t ra d e’ a n d b ) t h e re a re in d ivid u a ls wh o re sp o n d b e t t e r t h a n o t h e rs t o t h e t re a t m e n t o f p sych o sis wit h cloza p in e.
It is p o ssib le fo r ‘b io lo gy’ t o b e ‘m o le cu la r’, sin c e it s t h e o r y is b a se d o n m o le c u la r p o st u la tes co n cern in g th e stru ctu re o f th e DNA d o u -b le h e lix a n d it s ro le in p ro t e in syn t h e sis. Fo r ep id em io lo gy to b e ‘m o lecu la r’, a n u n co m fo rta b le e strrta n ge m e n t e m e rge s, sin ce its own th e -o ries p er se fa il t-o su sta in su ch a c-o m b in a ti-o n . Wh y n o t? I b e lie ve th a t o n e o f th e p e cu lia ritie s o f t h e ‘e p id e m io lo gic a l o b je c t’ is m a n ife st e d h e re : t h e fa ct t h a t it is b o t h b io lo gica l a n d so -cia l. Th e n o u n re fe rs t o t h e co lle ct ive le ve l (o f p e r so n s), wh ile t h e a d je ct ive re fe r s t o t h e m i-cro sco p ic level (o f b io ch em ica l rea ctio n s)...
Th u s, a d jectivin g ep id em io lo gy ten d s to re-fle c t t h e o b je c t s o f o t h e r d isc ip lin e s, m a in ly fro m b io m e d icin e : clin ica l m e d icin e, p sych ia -tr y, ge n e tics, ch ro n ic d ise a se s (ca rd iova scu la r, ce re b rova scu la r, ca n ce r ), in fe ct io u s d ise a se s, m oth er-ch ild , etc., or th ose p erta in in g to eith er th e (en viro n m en ta l) field o f b io lo gy/ eco lo gy o r to b ro a d er, tra n sd iscip lin a r y co n cep ts, like ‘vi-olen ce’.
Wh a t q u a lifie s a d iscip lin e a cco rd in g t o it s own m e th o d s fo r in ve stiga tin g d ise a se in p o p u la t io n s is co n d it io n e d b y ca t e go r ie s circu m -sc r ib in g t h e re sp e c t ive o b je c t o f st u d y. Th e se ca n b e cu t a cro ss b y a n o t h e r, u su a lly b io m e d -ica l (su b )d iscip lin e p erta in in g to th e in d ivid u a l level, or a re d esign a ted in a b roa d er wa y, givin g r ise t o d iffe re n t fo r m s o f in t e rp re t a t io n (e n vi-ro n m en ta l, so cia l, etc...).
At a n y ra t e, we a gre e in p r in c ip le wit h McMich a e l wh e n h e co n t e n d s t h a t “w e sh ou ld
‘Genomics’: a ‘new’ genetics?
Wit h a d va n c e s in m o le c u la r b io lo gic a l t e c h -n iq u e s i-n ge -n e ra l a -n d ge -n e tic m a -n ip u la tio -n i-n p a r t ic u la r, t h e fie ld o f h e a lt h kn owle d ge h a s u n d ergo n e p ro fo u n d ch a n ges. So m e h a ve even p o s t u la t e d t h e e m e r ge n c e o f a n e w h u m a n ge n e t ic s, wh ic h c a n b e d e fin e d a s “a bod y of k n ow led ge an d p roced u res based on recom bi-n abi-n t DN A tech bi-n ology w h ich creates ibi-n form a-tion abou t th e gen es carried by in dividu als an d th eir fam ilies” (Rich a rd s, 1993:568).
It wo u ld certa in ly n o t b e a p p ro p ria te to get in t o a d is c u s s io n o ve r t h e p e r t in e n c e o f t h e a d je c t ive ‘n e w ’ t o q u a lify ge n e t ic s. As in t h e ca se o f m o le cu la r e p id e m io lo gy, so m e a u th o rs stu d yin g th e co rre sp o n d in g so cia l d im e n sio n s fro m t h is a re a u se t h e e xp re ssio n wit h q u o t a -t io n m a rks (Ma cIn -t yre, 1995), wh ile o -t h e rs d o n o t (Rich a rd s, 1993). In t h e fa ce o f re ce n t d e -ve lo p m e n t s in t h is fie ld , e n co m p a sse d u n d e r t h e t e r m ‘ge n o m ic s’ (Co h e n , 1997a ), t h is d is-cu ssio n ru n s th e risk o f sp littin g h a irs, sin ce:
1) fro m a n e th ica l p o in t o f vie w, co n se cra t-ed con cep ts like life an d its in violab le valu e, rep rod u ction , b irth , an d b od y h ave b een d ism an -t le d b y b io -t e ch n o lo gy (Sa n -t o s, 1997). Wh e n m a m m a ls ca n b e (re )p ro d u ce d a r t ificia lly, t h e vir t u a l clo n in g o f Hom o sap ien s ra ise s m a n y co m p le x p ro b le m s, n o t o n ly e t h ica l b u t a lso p sych o lo gica l a n d so cia l. Th e id e a a n d im p le -m e n t a t io n o f clo n in g re fle ct re cu rre n t -m yt h s th at fascin ate an d frigh ten , en cru sted in h u m an fa n t a sy a n d p re se n t in sym b o lic p ro d u ct io n s, like th ose relatin g to su ch p rim ord ial th em es as creator/ creatu re, origin / d estin y, m ortality/ eter-n ity, aeter-n d id eeter-n tity/ d iffereeter-n ce (Sch ram m , 1999).
2) fro m t h e c o n t e m p o ra r y b io lo gic a l p e r -sp e ct ive, t h e o b je ct o f t h e d iscip lin e is n o t life
per se, b u t th e sp ecific a sp ects rela tin g to p h ys-ic a l a n d c h e m ys-ic a l p h e n o m e n a t h a t c o u ld e x-p la in t h e fu n ct io n in g o f livin g b e in gs. In o t h e r wo rd s, t h e m o le c u la r b io lo gist is c o n c e r n e d with th e ch em ica l p ro cesses o ccu rrin g in given n a t u ra l syst e m s: a n im a ls a n d p la n t s. To d a y’s b io c h e m ist r y is n o lo n ge r c o n c e r n e d wit h d efin in g life, b u t ra th er stu d yin g th e ch em istr y o f fu n ctio n a l m o le cu le s (p ro te in s), th e ir in te r-a ct io n s wit h e r-a ch o t h e r r-a n d o t h e r su b st r-a n ce s, a n d t h e wa ys t h e y p a r t ic ip a t e in b io lo gic a l fu n ctio n s (Atla n & Bo u sq u et, 1994).
3) from th e viewp oin t of m a rket econ om ics, a t wo - e d ge d (in c lu sive / e xc lu sive ) o p e ra t io n o c c u r s, wh ic h h a s le d t o : a ) t h e c re a t io n o f a t e r ra in o f b io lo gica l re se a rch a ct ivit ie s lin ke d t o p r iva t e e n t e r p r ise, wit h a n in flow o f re -so u rce s n e ve r se e n b e fo re – -so - ca lle d ‘b ig sci-e n csci-e’ – (Sfsci-e z, 1996) a n d rsci-e su lt in g a d va n csci-e s in
ge n e tic kn owle d ge a n d re sp e ctive p o ssib ilitie s fo r in ter ven tio n ; b ) th e rem ova l o f th e gen etics ‘m o n o p o ly’ fro m t h e st r ict ly a ca d e m ic sp h e re a n d th e restriction of th e la tter’s corresp on d in g m a rgin of a ctivity, given th e relen tless econ om -ic co m p e t it ive n e ss p e r m e a t in g t h e fie ld , d iffi-cu lt fo r th e a ca d em e to a cco m p a n y.
Th u s cam e th e ‘secon d wave’ of North Am erica n b io t e ch n o lo gy, in clu d in g e n t e r p r ise s in -vo lve d in se q u e n cin g D N A (id e n t ifyin g ge n e s co d in g fo r p ro te in s), th e ir a p p lica tio n , p a te n t-in g, a n d re gu la tio n . Th is wa ve t-in vo lve s p riva te b io t e c h n o lo gy c o m p a n ie s a n d t h e ir own e r s, m a n a ge r s, a n d re se a rch e r s. Th e se co m p a n ie s a re d e vo t e d t o a c t ivit ie s like d e ve lo p in g D N A p ro b e s, se q u e n c in g ge n o m e s o f p a t h o ge n s, id en tifyin g gen es a n d th eir resp ective regu la to-r y to-regio n s, sellin g su b scto-rip tio n s to a ccess gen e b a n ks, p ro d u c in g a n d m a rke t in g ge n e t ic re -se a rch kits, id e n tifyin g ge n e s fo r d i-se a -se s with syn ergistic p rop erties, an d screen in g DNA sa m -p le s fro m in d ivid u a ls a n d fa m ilie s a ffe ct e d b y sp ecific d isea ses (Co h en , 1997a ).
As m en tio n ed , th e cu rren t situ a tio n p a rtic-u la rly a ffects rela tio n s with th e a ca d em ic field . Th e re a re ge n e ticists a ffilia te d with su ch co m -p a n ie s n o t o n ly fo r re a so n s o f -p e r so n a l ga in b u t a ll d u e t o t h e a va ila b ilit y o f la rge a m o u n t s o f re se a rch fu n d s, fa r su p e rio r t o t h o se o f u n i-ve rsit y in st it u t io n s. In d e e d , t h e re is a n u n d e r-lyin g a m b iva le n ce in ‘a ca d e n o m ic’ re la tio n s (a p u n b y th e a u th o r q u o te d h e re ). In a d d itio n to th e coop era tive sid e of su ch rela tion s, a im ed a t c o m p le m e n t in g t h e we a k p o in t s o n t h e t wo sid es of th e eq u a tion , som e resea rch ers su ggest t h a t ge n o m ic s c o m p a n ie s a re re d e fin in g re -sea rch p rio rities (Co h en , 1997a ).
Th e e co n o m ic re le va n ce o f t h is u n d e r t a k-in g ca n b e a p p recia ted b y th e va rio u s lk-in ks b et we e n ge n o m ics co m p a n ie s a n d et h e p h a r m a -ce u t ica l in d u st r y. Th is p o in t m e r it s co m m e n t . First, th ere a re estim a tes th a t th e d ru g co m p a n ie s a re wo rkin g o n ove r fo u r h u n d re d p o t e n -tia l p h a rm a co lo gica l ‘ta rgets’, i.e., en zym es, re-c e p t o r s, a n d io n re-c h a n n e ls (n o t b e lo n gin g t o p a t h o ge n s) t h a t p la y im p o r t a n t ro le s in give n d ise a se s. A ‘co m b in a t o r y ch e m ist r y’ is e m e rg-in g th a t a llows for th e con stru ction of h u ge ca ta lo gu e s o f p o t e n t ita l d r u gs t h ro u gh b io in fo r -m a tic si-m u la tio n tech n iq u es.
a c c o rd in g t o ge n e t ic a lly d e m a rc a t e d t ra it s. It wo u ld th u s b e p o ssib le to sta n d a rd ize p a tien ts a cco rd in g to th eir ca p a city to resp o n d to given d r u gs. Fo r e xa m p le, clo za p in e, a d r u g u se d t o t re a t p syc h o sis a n d h a vin g ir re gu la r a n d u n -p re d ic t a b le e ffe c t s fro m o n e -p a t ie n t t o t h e n e xt , m igh t h a ve it s p h a r m a c o lo gic a l a c t ivit y ch ecked on th e b asis of th e p resen ce or ab sen ce o f m u t a n t ge n e s fo r d o p a m in e rgic re c e p t o r s (Co h en , 1997a ).
Ye t t h e re is co n t rove rsy ove r t h e e ffica cy o f th is tren d , wh ich ca n b e viewed a s a fa d , to th e p o in t o f b e in g la b e le d sym p t o m a t ic a lly a s ‘ge n o m a n ia’ b y Co h e n (1997a ). Kn owle d ge o f gen es resp o n sib le fo r gen etic d isea ses m a y n o t p rovid e a n y b e n e fit t o p a t ie n t s in e it h e r t h e sh ort or m ed iu m term . Ta ke th e exa m p le of th e d isc ove r y o f t h e ge n e t ic o r igin s o f sic kle c e ll d isea se. To d a te, n o cu re h a s b een p ro d u ced a s a resu lt.
We sh ou ld keep in m in d th a t th is a wa ger by e n t re p re n e u rs in ve st in g in se ct o rs co n sid e re d p ro m isin g in term s o f fin a n cia l retu rn . Wh ile it is evid en t a n d lo gica l th a t tech n o lo gica l d evel-o p m e n t s frevel-o m evel-o t h e r t e c h n evel-o sc ie n t ific se c t evel-o r s (electro electro n ics a n d in fo rm a tio n tech n o lo -gy, fo r in st a n ce ) a re t h e o b je ct s o f p ro d u ct io n a n d co m m e rcia liza t io n b y p r iva t e e n t e r p r ise, t h e e q u iva le n t m a rke t lo gic c a n n o t b e t ra n s-p o se d a s n a t u ra lly o r wit h o u t m e d ia t io n t o b io t e c h n o lo gy a s a p p lie d t o h u m a n s. Cr u c ia l eth ica l issu es a rise, wh ile rela tio n s h ea t u p b e-twe e n n o n gove rn m e n ta l o rga n iza tio n s, p u b lic in st it u t io n s, a n d p r iva t e e n t e r p r ise. Ta ke t h e e xa m p le o f t h e t ro u b le d re la t io n s b e t we e n n o n gove r n m e n t a l o rga n iza t io n s, c o m p a n ie s, a n d gove rn m e n t a ge n cie s in t h e p u rch a se a n d d istrib u tio n o f m o d ern d ru gs to trea t AIDS.
Th e re is a lso d e b a t e ove r t h e fe a sib ilit y o f p re se r vin g ge n e t ic e n d owm e n t s d isp la yin g h igh p ro b a b ilities o f h elp in g d ecrea se vu ln era -b ility to d isea ses, a s in th e d iscover y o f gen etic stru ctu res th a t im p ed e th e p ro lifera tio n o f H IV in th e im m u n e system . Th ere a re stu d ies on th e re sist a n c e o f in d ivid u a ls wit h m u t a t io n s in ge n e s th a t co d e fo r CCR5 m e sse n ge r re ce p to rs in t h e im m u n e syst e m c a lle d ‘c h e m o kin e s’, wh e re t h e p r im a r y H IV (p r io r t o re p lica t in g in t h e n e w o rga n ism ) b in d s t o a n d su b se q u e n t ly p en etra tes in to th e h o st cells (Co h en , 1997b ).
An o t h e r d e lica t e p o in t is t h e re st r ict e d a c-c e ss t o D N A se q u e n c-c in g d a t a fo r p a t h o ge n s th a t ca n cost h u m a n lives. How ca n society reg-u la te a ccess to kn owled ge resreg-u ltin g fro m a ctiv-ities b y b io tech n o lo gy co m p a n ies d ea lin g with ge n o m ic fin d in gs a s t h e ir own p ro p e r t y? Se r i-o u s issu e s like t h e se ke e p c ri-o p p in g u p in t h e tech n o scien tific d o m a in a n d d em a n d co n sta n t
review a n d a ction by govern m en ts, n on govern -m en ta l o rga n iza tio n s, cla ss a sso cia tio n s, tra d e u n io n s, u n ive r sit ie s, a n d a ll o t h e r in t e re st e d p a r t ie s. An e xa m p le wa s t h e re ce n t in vit a t io n to va rio u s secto rs o f Bra zilia n so ciety to p a rticip a t e in d ra ft in g b io e t h ica l re gu la t io n s fo r re -se a rc h in vo lvin g h u m a n b e in gs, in Ru lin g 196/ 96 o f t h e Bra zilia n Na t io n a l He a lt h Co u n -cil (MS, 1997).
How can one measure the ‘predictability’ of genetic tests?
Th e re is a lre a d y d isc u ssio n u n d e r wa y ove r a kin d o f p re d ict ive / p ro sp e ct ive m e d icin e. Th is ca n b e a t t r ib u t e d e sp e cia lly t o t h e u se o f sp e -c ifi-c b io m a rke r s a im e d t o p rovid e p re d i-c t ive tests to id en tify carriers of d efective gen es, b oth d o m in a n t a n d re ce ssive, co n sid e re d re sp o n si-b le fo r ch ro n ic, n o n -in fectio u s d isea ses. Strict-ly sp eakin g, it is n ot realStrict-ly p red iction , b u t ra th er a ffirm a tio n b a sed o n th e th eo ries o f p ro b a b ili-t y. In o ili-t h e r wo rd s, u n d e r ili-t h e se circu m sili-t a n ce s, t h e id e a o f p re d ict io n is u su a lly n o t d e t e rm in -istic, a s th e term m igh t su ggest, b u t p rob a b ilist ic (Ca silist ie l, 1996a ). Eve n wiilist h p ro gre ss in ge -n e t ic t e st i-n g, p re d ic t io -n s (i-n t h e ‘p ro p h e t ic’ sen se) of m ed icin e a re on ly va lid in th e cu rren t st a t e o f t h e a r t fo r so m e sp e cific d ise a se s (like D own’s syn d ro m e a n d Du c h e n n e’s m u sc u la r d yst ro p h y). ‘Pre d ict io n s’ o f r isk b a se d o n cu rre n tly a va ila b le kn owle d ge o f th e rre la tio n s b e -tween su scep tib ility a n d d isea se fo r th e m a jo r-ity o f co n d itio n s a ssu m e a re le va n ce a p osteri-ori, a ft e r t h e d ise a se h a s o ccu rre d . Th is wo u ld c o n fir m t h e c a u sa l re la t io n s, e ve n if o n e ig-n o re s t h e e xa c t m e c h a ig-n ism s iig-n vo lve d iig-n t h is p rocess.
As we h a ve se e n , t h e a m o u n t o f in ve st -m e n t s in t h e fie ld o f ge n o -m ic re se a rch h a s e xp a n d ed o u r kn owled ge o f ch ro m o so m es, ch ro -m o so -m a l re gio n s, a n d ge n e lo ci th a t a p p e a r to p a r t icip a t e in t h e p a t h o ge n e sis o f va r io u s d is-ea ses.
rven tion is m easu rem en t of seru m p rostate sp e-cific a n tige n (PSA) a s a co a d ju va n t in d ia gn o s-tic screen in g for p rosta te ca n cer. However, sev-e ra l st u d isev-e s in d ica t sev-e t h a t sev-e a rly d sev-e t sev-e ct io n a n d clin ical/ su rgical in terven tion in eld erly m en d o n o t a lter su r viva l ra tes (Ken en , 1996).
How, th en , ca n u n certa in ties in risk a ssess-m en t b e d ecrea sed by in crea sin g th e tests’ ‘p red ictive’ p owe r? In so m e circu m sta n ce s th e a n -swe r m a y b e u n e q u ivo ca lly a ffirm a tive (d e te c-tion of m on ogen etic recessive d isord ers in u tero
o r sc re e n in g fo r c a r r ie r s o f ge n e s fo r sp e c ific h ered ita ry d isea ses). Bu t in th e m a jority of ca s-es, we m u st ta ke in to a ccou n t th a t “in m an y
re-sp ects th e id en tification of gen etic bases for raised risk is sim p ly a sp ecial case w ith in th e gen eral field of screen in g for risk , bu t th is m ay n ot be ap p aren t to th e lay p u blic, n or in deed to m an y gen eticists” (D a viso n e t a l., 1994:344). Th is is e sp e cia lly t r u e if we co n sid e r e le m e n t s o f im p re c isio n a r isin g fro m c o n t in ge n c ie s in d e a lin g wit h p o lyge n ic d iso rd e rs, va r ia b le e x-p re ssio n o f ge n e t ic m a t e r ia l, u n x-p re d ict a b ilit y o f t h e ge n e / e n viro n m e n t re la t io n sh ip , im p re -c isio n st ill p re se n t in ge n e t i-c t e st in g t h ro u gh DNA m a rkers (d esp ite th e h igh p recision of th e tests, on e still fa lls b a ck on p rob a b ility to en u n -cia te it), a sp e cts o f va lid ity a n d q u a lity co n tro l in p o p u la t io n b a se d t e st in g, a n d va r ia b le re -sp o n se s b y su sc e p t ib le in d ivid u a ls t owa rd s p o sitive test resu lts (Da viso n et a l., 1994).
Accord in g to Lewon tin (1992), th e very con -clu sio n o f th e Hu m a n Ge n o m e Pro je ct will n o t b e totally en ligh ten in g in term s of p rovid in g in -form a tion th a t ca n b e gen era lized on ca u sa lity: 1) Disea ses b elo n gin g to th e sa m e d ia gn o stic ca tegory m a y h a ve va ried origin s. For exa m -p le : th e DNA o f h e m o -p h ilia cs d iffe rs fro m th a t o f n o n - h e m o p h ilia c s in 208 d iffe re n t wa ys in th e sa m e gen e.
2) It is q u it e d ifficu lt t o kn ow : a ) t h e fu n c-t io n s o f d iffe re n c-t n u cle o c-t id e s in e a ch ge n e, b ) h ow t h e re p e rc u ssio n s o f sp e c ific sit u a t io n s c a n a ffe c t t h e wa y b y wh ic h t h e c e ll d yn a m ic in t e rp re t s a n d t ra n sla t e s t h e DNA, a n d c) h ow t h e c o n st it u e n t p a r t s o f a h u m a n b e in g c o n -n ect to p ro d u ce a -n i-n d ivid u a l th a t fu -n ctio -n s a s a t o t a lit y, a n d fu rt h e r, wit h t h e n o t io n o f id e n -tity a n d reflexive co n scio u sn ess.
3) Th e re is a h u ge a m o u n t o f ‘p o lym o r -p h ism’ in ea ch gen o m e. “Th e fin al catalogu e of ‘th e’ h u m an DN A sequ en ce w ill be a m osaic of som e h yp oth etical average p erson corresp on d -in g to n o on e” (Lewon tin , 1992:68). In d eed , th is is a p h e n o m e n o n t h a t a lso o c c u r s in fin d in gs fro m e p id e m io lo gic a l st u d ie s. In d ic a t o r s o b -ta in ed fro m m o st stu d ies co n sist o f m ea n ra tes resu ltin g from stu d ies p erform ed in p op u la tion
gro u p s. In t h e q u e st fo r in fo r m a t io n t h a t c a n b e gen eralized , on e p rod u ces an ab stract record o f in d ivid u a lit y, d e vo id o f a n y re fe re n c e t o a p a rticu la r in d ivid u a l.
How does one deal with the social repercussions of information on genetic content?
Th is th e m e, a lre a d y d iscu sse d e lse wh e re (Ca s-t ie l, 1996a ), a llows fo r a s-t le a ss-t s-t h re e p o in s-t s o f vie w, a cco rd in g t o t h e ‘a ge n t s’ in vo lve d : e m it -t e r s (scie n -t it s, re se a rch e r s, o r h e a l-t h p ro fe ssio n a ls); tra n sm itters (covera ge o f th e b io m ed -ica l/ e p id e m io lo g-ica l fie ld b y t h e m a ss m e d ia , ge n e ra lly t h ro u gh t h e scie n ce e d it o r s o f jo u r n a ls o r sp e cific scie n t ific p e r io d ica ls), a n d re -cip ien ts (th e so -ca lled la y p u b lic).
With th e p u b licity over clon in g exp erim en ts in m a m m a ls, t h is in t e r fa ce h a s re ce ive d gre a t visib ility wo rld wid e. Sim u lta n e o u sly, th e m a ss m ed ia en m asseh a ve fo cu sed o sten sib ly o n th e fa c t . Mo le c u la r b io lo gis t s h a ve a p p e a re d o n t e le visio n t o a n swe r d o u b t s a s t o sp ir it u a l a sp e ct s, sh o u ld ‘cre a t u re s’ b e lo n gin g t o t h e h u -m a n sp e cie s b e ge n e ra t e d . Fu r t h e r, t h e y h a ve p la ye d a p a r t icu la rly visib le ro le in se t t in g t h e p o p u la t io n’s c o lle c t ive m in d t o re s t a s t o t h e im p o s s ib ilit y o f p r o d u c in g e it h e r a n o t h e r ‘Ch r ist’ o r ‘a n t i-Ch r ist s’, t h e la t t e r sym b o lize d b y Hitler.
Th e q u e stio n wa s fo re sh a d owe d in th e co l-le c t ive im a gin a t io n o f t h e 1970s in a sc ie n c e fictio n n ove l b y Ira Le vin in 1976 (th a t a lso b e -c a m e a film ), -c u r io u sly e n t it le d Th e Boys of Brazil. As th e p lo t u n fo ld e d , d e sp ite th e m u lti-p le clo n e s wit h t h e Ge r m a n t yra n t’s ge n o t ylti-p e a n d p h en otyp e sp rea d a ll over th e world , n oth -in g cou ld gu aran tee th at th e Hitler ‘p sych otyp e’ wo u ld b e re p lica t e d in o t h e r sp a t ia l/ t e m p o ra l con texts. Th a t is, th e in b orn versu s a cq u ired is-su e wa s a t th e la y p u b lic’s fin gertip s.
An d wh at ab ou t n ow, as we face th e real p os-sib ilit y o f clo n in g n o t ju st wh it e sh e e p ? Wh a t a b o u t d in o sa u rs, a s in Sp ielb erg’s Ju rassic Park, con ceived by a p h ysician , Dr. Mich ael Crich ton ? Or wh o kn ows, oth er h yb rid ch im eras, like th ose of th e d eran ged Dr. Moreau , as H.G. Wells im ag-in e d ? Su ch th e m e s a re d e a r to th e re a lm o f sci-en ce fiction , b u t as Ballard h as p oin ted ou t, th ey a re esca p in g fro m th e im a gin a r y zo o...
As h igh ligh t e d b y Sfe z (1996), c o e xist in g wit h t h e a d va n ce d a n d in n ova t ive co n ce p t s o f m o lecu la r b io lo gy a re th e a n cien t tra d itio n s o f alch em y. Alch em ic p rocesses are b ased on su ch n o t io n s a s ‘co n ju n ct io n’: t h e p ro p e r t y o f co n -t ra r y a n d se p a ra -t e p r in c ip le s, e le m e n -t s, a n d essen ces to m ix, like b o d y a n d sp irit, a ir, ea rth , fire, a n d wa ter, h ot a n d cold , wet a n d d ry. In or-d er to kn ow ‘n a tu re’, on e m u st isola te a n or-d p u rify wh a t is m ixe d , t o t h e n re c o n st it u t e it , c o r -re c t in g it s im p e r fe c t io n s. Th e n o t io n o f ra w m a t e r ia l, st ill p re va ilin g in in d u st r ia l c h e m -istr y, in vo lves th e sa m e lin ks. It co n sists o f p ri-m o rd ia l, to tip o te n t, a n d th u s virtu a l ri-m a tte r, in th e sen se o f p o ssessin g th e virtu e o f b eco m in g co n cre t e a n d p e r fe ct in it s a t t r ib u t e s/ p ro p e r -ties/ ch a ra cteristics. With o u t go in g in to d eta ils, it is im p o rt a n t t o h igh ligh t t h a t co n ce p t s su ch a s ‘essen ce’, ‘ra w m a teria l’, a n d ‘p u re form’ were d e ve lo p e d b y Ar ist o t le in h is t h e o r y o f h ylo -m o r p h is-m , wh e re n o t h in g e xist s a s iso la t e d m a t t e r a n d fo r m . Wh a t is re a l is in va r ia b ly m a d e u p o f b o t h . Th e se a re n o t a b so lu t e p r in -c ip le s, ra t h e r re la t ive t o a h ie ra r-c h y in wh i-c h ‘sim p le’ fo r m s o f m a t t e r (like wa t e r, a ir, e a r t h , a n d fire) a re orga n ized in va riou s wa ys in term s o f co m p le xity to b e co m e m in e ra ls, ve ge ta b le s, a n d a n im a ls (Sa m a ja , 1997),
‘Co n ju n c t io n’ a n d ‘ra w m a t e r ia l’ o r ie n t a lch em y in its trip le a p p ro a ch : a ) to o b ta in th e e lixir o f life, t h e p h ilo so p h e r s’ st o n e ; b ) t o re d e e m a n d p e rfe ct n a tu re ; a n d c) to a ch ie ve to -ta l wisd o m co n cern in g th e u n iverse.
Th e elixir/ ston e wou ld h a ve: 1) th e ca p a city t o re m ove im p u r it ie s fro m livin g b o d ie s, so a s to a ch ieve th e essen ce, a llowin g fo r im m o rta li-ty with h ea lth , th u s a vo id in g d eca d en ce; 2) th e p ro p erty o f tra n sm u ta tio n , a fter th e rem ova l o f b a se (d efective, im p u re) m eta ls from th e n ob le, p u re m eta l, i.e., go ld .
Pe rfe ctio n o f n a tu re re su lts fro m th e a p p li-c a t io n o f t h e sa m e id e a s o n a b ro a d e r sli-c a le. Th e q u e st is t o h a r m o n io u sly re u n ify a n a t u re wh ich is m a n ife st e d t h ro u gh co n t ra r y/ m ixe d / d iso rd e re d a p p e a ra n ce s. All kn owle d ge is o b -t a in e d -t h ro u gh -t h e o p e ra -t io n o f -t h e p u r ifie d a n d p u r ifyin g sp ir it se e kin g t h e in t e gra t io n o f a ll sep a ra te th in gs in a sin gle, o rd ered wh o le.
Im p lic it t o su c h n o t io n s o f p u r ific a t io n o f th e b o d y (wh ich , to th is en d , m u st free itself o f d e ge n e ra t ive e le m e n t s) a re a lch e m ic n o t io n s, ro o t e d in t h e so cia l im a gin a t io n , like ra w m a teria l, essen ce, extra ct, u tm ost, a n d a ctive p rin -c ip le. Co n ju ga t e d wit h t h e re a lit y a s-c r ib e d t o t h e n a t u ra l, d e ficie n t b o d y is t h e co n st r u ct e d re a lit y o f a n a r t ific ia l, p e r fe c t e d b o d y, a b le t o ove rc o m e im p e r fe c t io n s. Ac c o rd in g t o Sfe z: “Th e virtu al bod y is an ‘ex tract ’, th e resu lt of a
series of operation s, a pu rer reality th an th e sen -sitive bod y th at w e gen erally see. Is th is n ot an alch em ic p rod u ct tak in g th e qu in tessen ce of its bein g from raw m aterial?” (Sfez, 1996:331).
Alo n g t h is lin e o f re a so n in g, a n o t h e r e x-p re ssio n t h a t m e r it s a t t e n t io n is t h a t o f ‘t a re’, fro m t h e Ara b ic tarh ah, o r wh a t is re je ct e d o r su b t ra c t e d fro m we igh in g a give n m e rc h a n -d ise, in so fa r a s it is n o t p a r t o f t h e sa m e (e.g., th e recip ien t or vessel). Tare can also m ean fla w o r fa u lt a n d b y e xt e n sio n a p h ysic a l o r m o ra l d e fe ct , t o t h e p o in t o f t o t a l d e ca d e n ce, d e ge n -era tio n , o r d ep ra va tio n , esp ecia lly in th e sen se o f p e r ve rsio n (Fe rre ira , 1975). Th u s, im p u rit y/ im p e r fe c t io n is m a n ife st e d in t h e fo r m o f a ‘p h ysica l/ m o ra l d e fe ct’ a n d , e vid e n t ly, ‘d e p ra -va t io n’ (‘t o d e p ra ve’ a lso m e a n s t o a lt e r so m e t h in g o r su b st a n c e, like b lo o d , in a h a r m fu l wa y), wh ich ca n b e gen etica lly tra n sm itted / in -h e r it e d . If a tarad o(o r ‘p e r ve r t’ in Po r t u gu e se a n d Sp a n ish ) is o n e wh o c o m m it s a fa u lt fo r re a so n s b e yo n d h is will, m o ra ls a n d p ro p e r m a n n e rs a re sa fe gu a rd e d . If t h e re is gu ilt , it is in th e gen es (Ga illa rd , 1996).
Th is p e r sp e ct ive is e xa ce r b a t e d b y t h e so -c a lle d m o d e l o f ‘n e u ro ge n e t i-c d e t e r m in ism ’, wh ich m ist a ke n ly fu e ls e xp e ct a t io n s o f id e n t i-fyin g ge n e s a sso cia t e d wit h d e via n t b e h a vio rs (like sexu a l p ra ctices con sid ered a b erra n t, d ru g a d d ictio n s, p sych ia tric d iso rd ers, a n d co m p u l-sive b e h a vio r s). Th is le a d s t o a n ‘ove r va lu in g’ o f b io lo gica l fa ct o rs (a n d t h e re sp e ct ive p h a r-m a co lo gica l in te r ve n tio n s) to th e d e trir-m e n t o f so c io c u lt u ra l e le m e n t s in t h e ge n e sis o f va r i-o u s fi-o r m s i-o f d e via t ii-o n a n d d isc i-o n t e n t in i-o u r civiliza tio n (Ro se, 1997) – se e th e n e u ro p a th o -p h ysio lo gica l a -p -p ro a ch t o b a d m o o d , o r, d
ys-th ym ia, a s p u b licized b y th e m a ss m ed ia .
Conclusion?
Th ere is evid en ce of coin cid en ces a n d sim ila ri-tie s in th e p ro je cts fo r d e cip h e rin g a n d p u rify-in g t h e h u m a n ge n o m e a n d b io t e c h n o lo gic a l p rogra m s ta rgetin g oth er livin g b ein gs. Im p licit in t h is a re t h e go a ls o f lo n ge vit y wit h h e a lt h , p e r fe ct io n o f n a t u re, a n d kn owle d ge o f a ll t h e la tte r’s se cre ts. Th e se p o in ts ce rta in ly u n d e rlie th e frin ges o f in tera ctio n b etween th e p u b lic a t la rge, scien tific jo u rn a lism , a n d scien tists.
st a ke. On e e xa m p le a lre a d y p u b licize d b y t h e la y p re ss is wh e t h e r wo m e n fo u n d t o h a ve ge n e s lin ke d t o b re a st c a n c e r a n d / o r h a ve a fa m ily h ist o r y o f b re a st ca n ce r sh o u ld su b m it to a ‘p reven tive’ m a stecto m y.
As we h a ve seen , with th e a va ila b ility o f ge-n e t ic t e st s, m a ge-n y d ise a se c o ge-n d it io ge-n s b e c o m e p ron e to so-ca lled ‘p red ictive’ a ffirm a tion s. Bu t in fa ct, sta rtin g with th e p resen ce o f gen es th a t su p p osed ly p a rticip a te in th e etiology, th e risks o f d e ve lo p in g d ise a se s d isp la y va r yin g d e gre e s o f ‘p re d ict a b ilit y’. In ge n e ra l, a s we h a ve se e n , t h e r isks (t h e p ro b a b ilit ie s o f a c q u ir in g d is-ea ses) a re o n ly well-d efin ed fo r a few n o so lo gi-ca l en tities.
D e sp it e t h e a b ove, d o p e o p le ge n e ra lly h a ve su fficien t gen etic (Men d elia n ) kn owled ge t o d e a l wit h su c h sit u a t io n s? Eve n wit h t h e m a ss d isse m in a t io n o f t e r m s like D N A, ge n e, a n d ch ro m o so m e, st u d ie s in En gla n d su gge st th a t th e a n swer is n o (Rich a rd s, 1996).
On e a lso n e e d s so m e fa m ilia rity with b a sic n o t io n s o f t h e t h e o r y o f p ro b a b ilit ie s a n d it s wa t e r sh e d s, o r a kin d o f ‘st a t ist ic a l lit e ra c y’, wh ich is ra t h e r u n like ly t o o ccu r. Ta ke t h e e xa m p le o f t h e fxa llxa c y o f b xa se lin e rxa t e s in p e r -c e ivin g t h e o -c -c u r re n -c e o f a n e ve n t . In o t h e r wo rd s, t h e in flu e n c e o f t h e fre q u e n c y o f t h e e ve n t in t h e p o p u la t io n o n t h e re su lt s o f p re -d ictive tests. Fo r exa m p le, a test gen era tes p o s-it ive fin d in gs fo r a give n fa c t o r ‘F’ fo r a give n d isea se ‘D’, wh ich a ffects on e ou t of a th ou sa n d in d ivid u a ls, wit h a m a rgin o f e r ro r o f 5% fo r fa lse p o sit ive s. A st u d y o b se r ve d t h a t fe we r t h a n 20% o f a gro u p o f b io m e d ic a l p e r so n n e l fro m t h e Un it e d St a t e s wa s a b le t o c o r re c t ly id en tify th e ch a n ce of on e in fifty of a n in d ivid -u a l a c q -u ir in g d ise a se ‘D’. Or, if t h e q -u e st io n we re p o se d d iffe re n t ly, wit h n o t e st in g, in d e -term in in g th e exp ected p ercen ta ge o f d isea sed in d ivid u a ls t h e re a re in d ic a t io n s t h a t t h e re wo u ld b e a m u ch sm a lle r p ro p o r t io n o f e rro rs in th e resu lts (Ma tth ews, 1997).
Bu t a fu n d a m e n t a l p ro b le m re m a in s: t h e u se o f p ro b a b ilist ic t h in kin g b y h u m a n b e in gs p re su p p o se s t h e e xist e n ce o f a n in t e gra t e d , ce n t ra l, a n d ra t io n a lizin g ‘I’, e va lu a t in g a n d ch oosin g th e m ost ‘reason ab le’ way to d eal with life’s vicissitu d es. After all, th is is su b ject to en d le ss d iscu ssio n s ove r th e n a tu re o f ‘h u m a n n a -tu re’ (with o r with o u t q u o tes...) a n d o u r u n d erstan d in g of th e ten sion b etween reason an d u n -rea so n in th is p a rticu la r b io lo gica l sp ecies.
In o u r o p in io n , it is p la u sib le t o t a ke t h e p o in t o f vie w t h a t c o n sid e r s t h e c o gn it ive p ro ce sse s lin ke d t o h u m a n co n scio u sn e ss d e p en d en t on u n p red icta b le em ergin g con figu ra -tio n s, o rigin a tin g fro m th e co m p eti-tio n / syn
er-gism o f va rio u s n eu ro n a l gro u p s in ch a o tic a c-tivity u n til th e cortex rea ch es a wid esp rea d a n d tran sien t electric state, th en ce eclosin g a ‘virtu a l se lf’ ( Va re la , 1992) wh o se b e h a vio r, a cco rd -in g t o t h e re sp e ct ive e xp e r ie n t ia l co n t e xt , ca n b e m a n ife st e d in a ct s a b so lu t e ly a lie n t o t h e ca n o n s o f ‘ra t io n a l ra t io n a lit y’ (we will co m e b a ck to th is)...
With rega rd to th e d ifficu lty in u n d ersta n d -in g/ gra sp -in g Men d elia n con ten ts, th ere a re h y-p o t h e se s su gge st in g: a ) t h e u se o f in a d e q u a t e, o u t - o f- co n t e xt t e a ch in g/ le a r n in g p ro ce d u re s in tra n sm ittin g th em a n d / or b ) th e in flu en ce of p sych ologica l d efen se m ech a n ism s a ga in st p o-t e n o-t ia l r isks o-t o o n e’s se lf o r fa m ily in re ce ivin g th em (Rich a rd s, 1996).
On e sh ou ld a lso reflect on th e effects of n o-t io n s o f kin sh ip , id e a s o f h e re d io-t y ro o o-t e d in We st e r n so c ie t ie s vis-à-vist h e p e rc e p t io n o f gen etic lin ks a m o n g in d ivid u a ls fro m th e sa m e fa m ily. Fro m t h e lin gu ist ic p o in t o f vie w, t h e very term ‘in h erita n ce’ is im p regn a ted with th e lega l con n ota tion of tra n sm ission of good s a n d p ro p e r t y fro m p a re n t s/ re la t ive s t o t h e ir d e -scen d a n ts. It is th ereb y p o ssib le to p o ssess n o t o n ly p h ysica l a ttrib u tes, b u t a lso p sych ic tra its a n d give n d ise a se p a t t e r n s. Ac c o rd in g t o t h is view, th is rep resen ts a lo gic o f jo in t co rresp o n -d e n c e o f a ll su c h a sp e c t s so a s t o c o n st r u c t lin ks b e t we e n p h ysio gn o m ic sp e cificit ie s a n d d ise a se p ro ce sse s. In o t h e r wo rd s, in d ivid u a ls t e n d t o fa ll ill in t h e sa m e wa y a s t h e re la t ive s t o wh o m t h e y a re m o st ‘sim ila r’. La y re p o r t s t h u s fa il t o lin k ge n o t yp e wit h p h e n o t yp e (Rich a rd s, 1996).
Th ere a re a lso in d ica tion s of a n im a gin a tive le ve l wh e re t h e re is a p r im o rd ia l su b st a n c e (ra w m a teria l!) wh ich is in h erita b le a n d wh ich , th rou gh u n d esirab le ‘m ixtu res’, can lose its p u rity, d efilin g th e in d ivid u a l’s co rresp o n d in g ‘b io -logical n ob ility’. Th is su b stan ce m ay som etim es b e referred to a s ‘b lo o d ’ (b lo o d o f m y b lo o d ...), b u t th is is n o t well-d efin ed (Rich a rd s, 1996).
Th e re is st ill a st ro n g a r ist o c ra t ic n o t io n (with a lch em ic roots) of th e essen ce/ p u rity of a lin e a ge wh ic h sh o u ld b e p re se r ve d t h ro u gh ‘b reed in g’ with p artn ers of th e sam e “p ed igree”, so a s to a vo id a su p p o sed d egen era tio n , resu ltin g fro m m isce ge n a t io n wit h t h e ro u gh , ign o -ra n t , a n d d ise a se d p le b e ia n wo rld . Th is b e lie f e ve n a p p e a rs t o h a ve ga in e d st re n gt h wit h t h e risks o f tra n sfu sio n -b o rn e co n ta gio n by kn own d ise a se s a n d th e fa ct th a t ge n e tic te sts in vo lve b lo o d sa m p les.
