Bioethical Inquiry (2007) 4:217–228

DOI 10.1007/s11673-007-9059-0

Private and Public Eugenics: Genetic Testing and Screening

Received: 10 April 2007 / Accepted: 5 October 2007 / Published online: 22 November 2007
# Springer Science + Business Media B.V. 2007

Abstract Epidemiologists and geneticists claim that have serious and far-reaching implications for cultural
genetics has an increasing role to play in public health perceptions regarding health and disease and women’s
policies and programs in the future. Within this experience of pregnancy, besides creating new ethical
perspective, genetic testing and screening are instru- dilemmas and new professional and parental respon-
mental in avoiding the birth of children with serious, sibilities. Therefore, culturally sensitive health literacy
costly or untreatable disorders. This paper discusses programmes to empower the public and sensitise
genetic testing and screening within the framework of professionals need attention.
eugenics in the health care context of India. Obser-
vations are based on literature review and empirical Keywords Bioethics . Sociology . Genetic screening .
research using qualitative methods. I distinguish Eugenics . India
‘private’ from ‘public’ eugenics. I refer to the practice
of prenatal diagnosis as an aspect of private eugenics,
when the initiative to test comes from the pregnant Genetic Testing and Eugenics
woman herself. Public eugenics involves testing
initiated by the state or medical profession through The term ‘eugenics’ comes from the Greek for ‘good
(more or less) obligatory testing programmes. To birth.’ It was first used by Francis Galton to mean
illustrate these concepts I discuss the management of ‘healthy birth.’ Eugenics emerged as an extension of
thalassaemia, which I see as an example of private the science of heredity, and it claims to apply genetic
eugenics that is moving into the sphere of public principles for the improvement of ‘mankind.’ There
eugenics. I then discuss the recently launched are two kinds of eugenics: positive and negative.
newborn screening programme as an example of Positive eugenics aims to increase the reproduction of
public eugenics. I use Foucault’s concepts of power ‘fit’ individuals; negative eugenics aims to reduce the
and governmentality to explore the thin line separat- reproduction of ‘unfit’ individuals. Recent develop-
ing individual choice and overt or covert coercion, ments in basic genomics research may be eugenic in
and between private and public eugenics. We can nature, that is,
expect that the use of genetic testing technology will
The aim is not only to ‘cure’ disease – it is also
to alter the genetic makeup of animals and
J. A. Gupta (*)
humans, to get rid of ‘bad’ genes from the
International Institute for Asian Studies, Leiden University,
P.O. Box 9515, 2300 RA Leiden, The Netherlands population. In the language of eugenics, it is to
e-mail: jagupta@tiscali.nl promote the reproduction of fit individuals [1].
218 Bioethical Inquiry (2007) 4:217–228

Wertz et al. define eugenics as “A coercive policy human gene pool does not seem to be a priority of the
intended to further a reproductive goal, against the state. This may change once stabilisation of the
rights, freedoms, and choices of the individual.” They population is achieved. Both the central and state
argue that “Eugenics is directed against whole governments have made substantial investments in
populations, whereas the work of today’s clinical biomedical research in order to tackle India’s unmet
geneticists is directed towards individuals and fami- medical needs and to improve the overall health of the
lies” [2]. They find little evidence for eugenic practice population [4]. According to India’s Department of
in the modern world. American bioethicist, Kitcher, Biotechnology, sixteen genetic diagnosis and counsel-
suggests that some form of eugenics is inevitable, and ling units have been set up in India for pre-natal
that it is acceptable provided it is voluntary and diagnosis and counselling for major genetic disor-
practised on an individual basis without social ders.1 Human cytogenetics (the study of chromo-
coercion. The “utopian eugenics” that Kitcher envis- somes and related diseases) for disorders other than
ages would attempt a fine balance between “compas- cancer is conducted at the All India Institute of
sionate abortion” (after prenatal diagnosis of severely Medical Sciences (AIIMS), Department of Genetic
disabling conditions and a very restricted future life) Medicine, Sir Ganga Ram Hospital, KEM Hospital
and enabling services for future disabled people with Mumbai, St. John Medical College, Bangalore, and
even the most severe medical conditions [3]. some centres in Pune. In general, public sector
This paper is based on a literature review and my hospitals lack financial resources to meet the huge
empirical research using qualitative methods, which demand for genetic testing and counselling from
included participant observation in genetic and ultra- patients who cannot afford to pay the charges at
sound clinics, followed by individual interviews with private hospitals/clinics.
some of the women/couples. I contend that positive The most common indication for seeking genetic
and negative eugenic ideas are still expressed openly counselling is reproductive genetics, of which prena-
and also practised as part of population policies, either tal diagnosis is the most common. According to the
covertly or openly in India, as is the case in other Indian Society for Pre-natal diagnosis and Therapy
countries, both in the West and in Asia. This may take (ISPAT) which held its 8th National conference in
the form of open or veiled coercion to undergo New Delhi from 17 to 19 February 2006, over 25
genetic testing or screening for hereditary or congen- million births take place in India annually; 16 million
ital disorders, followed (in the case of pre-natal suffer from some kind of disorder. Cytogenetic
screening) by abortion or sterilisation. I use the term abnormalities may be responsible for early embryonic
‘eugenics’ in its original sense of ‘healthy birth’ and I death, minor to major congenital defects, infertility or
distinguish ‘private’ from ‘public’ eugenics. I refer to sterility, as well as cancer.
the practice of prenatal diagnosis as an aspect of Genetic testing and counselling is underdeveloped
private eugenics when the initiative to test comes in India. Those seeking genetic counselling and pre-
from the pregnant woman herself. Public eugenics natal diagnosis (PND) are mainly couples with a
involves testing initiated by the state or medical family history of a particular disease, or parents of
profession and medical institutions through testing children who already have an affected child, or
programmes which may be more or less obligatory. I women with a history of repeated miscarriages due
argue that in some cases there appears to be only a to advanced maternal age. Counselling and PND are
thin line distinguishing individual choice and overt or sought on the advice of family, friends, family doctor,
covert coercion and between ‘private’ and ‘public’ gynaecologist, or paediatrician. Pre-natal tests are not
eugenics. offered routinely to pregnant women, but are becom-
ing common in large cities as pregnant women
increasingly register with gynaecologists for antenatal
Genomics for Health care and delivery in clinics rather than having
traditional home births, although the latter is still the
Curbing the population growth rate and size remains
the main objective of health and family welfare 1
See http://www.dbtindia.nic.in/programmes/progmain.html
programmes in India; controlling the quality of the (website accessed 14.10.2007).
Bioethical Inquiry (2007) 4:217–228 219

norm in rural areas where the majority of the with a special interest in thalassaemia. He founded the
population lives. PND for monitoring foetal growth thalassaemia unit at Sir Ganga Ram Hospital (SGRH)
and development through ultrasound and certain 20 years ago, and is Vice President of Thalassemics
blood tests may indicate a higher risk of genetic or India.
congenital abnormalities. Pre-implantation genetic According to Dr. Khanna, most couples come for
diagnosis of the embryo (PGD) is also becoming a the thalassaemia test as part of antenatal testing. Only
more common adjunct to assisted reproduction using occasionally do individuals come for a pre-marital
IVF, which is itself proliferating at a fast pace. thalassaemia test. As Dr. Khanna explained:
Genetic screening of newborns is gradually being
I do not counsel pre-marital thalassaemia. If they
introduced in certain selected centres.
come to know that the prospective bride or
The most common genetic disorders in India are
groom is a carrier, no one will marry a person
Down syndrome, thalassaemia, Duchenne muscular
with thalassaemia minor. There is so much
dystrophy, spinal muscular atrophy, and inborn errors
interference from parents and grandparents. They
of metabolism. Thalassaemia is one of the conditions
must be told that individuals with thalassaemia
where we can observe the convergence of ‘private’
minor are normal people.
and ‘public’ eugenics − that is, testing being offered
as individual choice although initiated by the medical In the social climate of India, knowledge of
profession and hospital policy in some cases. someone’s thalassaemic status can be stigmatising
for the individual:
Thalassaemia
In a university in Gujarat, they asked for
Thalassaemia is the most common single-gene disor- thalassaemia status on the admission form; but
der. It affects over 30 million people worldwide. Only there was such a hue and cry that they stopped,
3% of the population in India carries it. Although this because there is no law that you must have a
is low compared to Cyprus where the corresponding blood test (Dr Khanna).
figure is 15%, the absolute numbers of affected During interviews, most parents mentioned to me
individuals in India is large due to its large popula- that they had not even heard of the disease called
tion. Thalassaemia is more common in certain parts of thalassaemia before the birth of their affected child.
India and among certain communities, such as Many parents reported that they had first sought
Punjabis, Sindhis, Gujaratis, Gaurs, Marwaris, and treatment for their child from practitioners of tradi-
Saraswats. It is less prevalent in South India. tional (Aryuvedic) medicine and homeopathy. As a
Every year between 7,000 and 10,000 children are mother of a thalassaemic son put it:
born with thalassaemia major in India. They survive
on periodic blood transfusions and chelation therapy, We didn’t even think that we would have this
which is very expensive. The medical costs for a child problem, because my husband and I were
suffering from this disorder can be around 10,000 apparently normal. We were going for homeo-
rupees a month, or about US$250 (note that India’s pathic and Ayurvedic treatment for his height
per capita income is only about US$820). problem, as he was not growing well. Every
The only cure for thalassemia is bone marrow couple should be told about thalassaemia after
transplantation, which few can afford. The life marriage, in fact before marriage; if both are
expectancy of those affected is between 20 and thalassaemic, they should not marry (RD).
35 years. Facilities for treatment are neither available Most large hospitals in big Indian cities are now
nor accessible in most parts of the country. Thalas- doing thalassaemia tests routinely on all pregnant
saemia is considered preventable if prospective women as part of antenatal check-ups and on every
parents are tested and all pregnant women are tested child that is born:
in early pregnancy for thalassaemia status and
undergo abortion if the foetus is affected. In SGRH all our children are thalassaemia-free.
I conducted interviews with parents of thalassaemic All women go for antenatal diagnosis and abort
children and with Dr. V. K. Khanna, a paediatrician in case the foetus is affected. Because if it is in
220 Bioethical Inquiry (2007) 4:217–228

the family, they have seen the hardship, and national/ private companies are able to get compensa-
trauma and the cost, so they immediately opt for tion for costs incurred. As one mother (RD) said,
the test (Dr. Khanna).
Please write this down: At AIIMS [All India
In the words of a second mother, Institute of Medical Sciences, a public hospital]
we got no attention, but everybody cannot afford
Now, testing is compulsory at SGRH, but it
to come to SGRH.
should be made compulsory everywhere. Not
only does the child suffer, but the whole family Another mother (RA) said, “On the whole what we
suffers. In our family we tell the others to get the earn is for the child. We have no savings.”
test done, but they think we must have some When I asked whether women are blamed for
personal interest in it, so they don’t listen. They producing a thalassaemic child, Dr Khanna answered
should get the test done premaritally or just after in the negative, and so did most mothers and fathers
marriage (AM). of thalassaemic children. However, one woman had
this to say:
In 1996, the Delhi government introduced the
thalassaemia prevention programme in all Delhi My father-in law said my son got the disease
administration (public) hospitals. All pregnant women from his nani’s [maternal grandmother’s] house.
undergo the test. By and large, all private hospitals Do the nana-nani [maternal grandparents] wish
and some private gynaecologists also conduct the test. bad things for their grandchild? They would
The affected foetus is generally aborted [5]. rather wish the best. In some families they say
the woman has brought the disease from her
Only once I had a woman who had conceived
mother’s house. In 90% cases the woman is
after a long time. The gynaecologist advised pre-
blamed. The woman is underpowered in the
natal testing, but her in-laws didn’t accept. They
household (RA).
put pressure on her to continue the pregnancy.
She produced a thalassaemia major child (Dr. Mrs S. Tuli, Secretary of Thalassemics India, also
Khanna). agrees that women are blamed:
In India, the expenditure incurred by parents/ Here, most people think the daughter-in-law is to
families of thalassaemic children is prohibitive. In be blamed…. Most parents think their son is
many cases patients and their families must travel perfectly healthy.
long distances − inter-state even − as the facilities for
Also, the prejudice against girl children leading to
treatment and blood transfusion are available only in a
their pre-birth elimination in India could be further
few metropolitan centres.
aggravated in the case of children affected by thalas-
The costs are 550 rupees per transfusion. Costs saemia. According to a gynaecologist/obstetrician,
may be less of a barrier at SGRH, because here
They will abort a thalassaemic girl; if it’s a boy
we deal with the cream of society. But, if you
they will continue the pregnancy. We come to
look at the overall picture in the country, more
know because they don’t even come to pick up
than 95% people can’t afford it. The pump costs
the report. The sad thing in this country is that
10,000–12,000 rupees and each vial of Desferal
the doctors themselves are stakeholders in the
costs 175–180 rupees. It comes up to 15–20,000
abortion of female foetuses (Dr PB).
rupees a month. We are helping poor patients by
raising funds for them. During general out- The gender aspects of thalassaemia clearly need to
patients department clinic hours I do tests and be explored further.
check-ups at 50% less charges and free counsel- In conjunction with carrier screening, prenatal
ling (Dr. Khanna). diagnosis and termination of the affected foetus can
reduce the prevalence of thalassaemia:
Private health insurance (Mediclaim) does not cover
thalassaemia or any related problem; only some Treatment of thalassaemia is expensive, arduous
employees of large government undertakings or multi- and painful. It is associated with complications
Bioethical Inquiry (2007) 4:217–228 221

of chelation therapy, and the risk of transfusion- offering testing services to pregnant women, we can
related infections. It is, therefore, necessary to see how private and public eugenics converge.
prevent the birth of affected children by prenatal Genetic screening is accorded an even more
diagnosis, to reduce the socio-economic pressure important role in public health through the practice
on the family and the burden of disease on the of newborn screening. I will now examine the
community. Therefore, genetic counselling and relevance of this practice for public health in India.
prenatal diagnosis (PND) are essential to control
this dreaded disease [6].
Newborn Screening
Mother (RD): “They should give information on
thalassaemia in the media – on TV and in the news. Screening programmes target the wider population in
There is attention in the media for cancer and HIV/ order to identify individuals who are at risk of having
AIDS, but not for thalassaemia.” One father (PA) children with genetic disorders. Newborn infants are
strongly urged, “There should be a campaign to also screened for congenital metabolic variations that
publicise that thalassaemia is even more serious than need immediate intervention to prevent the progres-
AIDS, and it comes from the parents. Gynaecologists sion of disease. Screening is thus conducted with the
should test routinely for thalassaemia. Nobody is goals of both primary prevention (i.e. to identify the
doing anything about it or publicising this. Also, there risk of disease and intervene so as to avoid it entirely)
is no public or state support for those affected.” Dr and secondary prevention (i.e. to intervene medically
Khanna gives lectures to the Delhi Gynaecological so as to mitigate the consequences of disease and
Society urging that it should be offered as a routine improve the prognosis for patients).
test. Mrs S. Tuli emphasised: In most countries of the developed West, newborn
screening for treatable Mendelian disorders has been
We say ‘get yourself tested before marriage, as
provided under public health programmes since the
students, or after marriage before planning your
1960s. Screening was first applied for phenylketonuria
family….’ You have to screen families. Families
(PKU). Screening of newborns has become a routine
should test their other children. They have some
and often mandatory procedure, and is often subsidised
responsibility towards the country. The ideal in
by the government, although the number of conditions
this respect are Cyprus and Italy…. There has to
for which screening occurs may vary across countries.
be a campaign by the government; big names
Conditions such as PKU, sickle-cell anaemia, and
must be involved in the publicity. The message
hypothyroidism are generally part of regular screening
should be that it is a genetic problem and must
programmes. Parents may opt out on religious or other
be controlled. Thalassaemia patients use so much
grounds, although often they are not informed about
blood, which is difficult to obtain, which could
this possibility.
be used for other needy patients. All the
The range of disorders for which newborns can be
medicines – needle (infusion set), pump and
screened has increased with the use of tandem mass
Desferal are imported. We could save on foreign
spectrometry (TMS) and DNA testing. With the help
exchange. The money that goes to the NGOs
of TMS about 30 metabolic genetic disorders can be
could be saved. Most patients, if they do not
detected from one sample and the diagnosis is
have the financial means, die early and do not
available in 1 day. This technology can detect the
contribute to society because of this disease. The
presence of disorders before the appearance of clinical
ideal way is to prevent it, and it is preventable.
symptoms, providing enough time to save the child
We have to educate the people. The government
from mental retardation, early death and other
has to earmark funds for it. Thalassaemia can be
physical disabilities [7]. The technology is expensive,
eradicated.
however, and even in the US some states cannot
From the quotes above, which voice individual afford it, particularly in times of budget deficits [8].
parental desires regarding avoiding the birth of About 5% of all pregnancies result in the birth of a
thalassemic children and medical specialists’ views child with a significant genetic disorder, congenital
urging the importance of thalassemia testing and malformation or disability [2]. In India over 25
222 Bioethical Inquiry (2007) 4:217–228

million births occur annually. The infant and child a significant reduction in morbidity, mortality and
mortality rate is very high, and infectious diseases are disabilities, and to improved health. Since the
still the primary cause. Geneticists argue, however, programme is to be launched as an experiment, it
that India is undergoing an epidemiological transition: has been agreed to limit screening only for two
many neonatal infections are better controlled today, conditions – congenital hypothyroidism (leading to
which means that over time, the proportion of mental retardation, development delay) and congeni-
perinatal mortality attributable to birth defects has tal adrenal hyperplasia (diarrhoea, dehydration, am-
increased. If the incidence of birth defects is assumed biguous genitalia) – in order to be able to offer ethical
to be 2%, then 500,000 babies are born with some treatment, management and counselling [Dr Roli
form of birth defects every year in India [9]. Mathur, scientist, ICMR personal communication].
Paediatricians argue that prevention is the best When I asked whether it can lead to stigmatisation of
strategy, given that cure after birth is difficult and the child or its family, Dr Ratna, [geneticist at SGRH,
costly. personal communication] replied:
According to geneticists, the incidence of meta-
Not at all. If undiagnosed, it might be a severe
bolic disorders is on the increase in India. An
presentation later. These are diseases that are
estimated 9,760 infants are born with aminoacid
treatable through medicines.
disorders each year [9]. If this is not detected early
enough, in most cases this leads to irreversible brain Neonatal screening is already being conducted at
damage as time progresses. “That some infants aren’t several hospitals. The first expanded programme was
being caught and treated when possible is a national initiated in Hyderabad to screen all newborns in four
tragedy and TMS should be standard care for all major government maternity hospitals [11]. The
newborns, much as blood pressure test is a part of program currently includes testing for congenital
every medical check up” [10]. Some geneticists argue adrenal hyperplasia, hypothyroidism and G6PD (en-
in favour of neonatal karyotyping (chromosomal zyme deficiency, causing sensitivity to certain drugs
fingerprinting) of all newborns. In India, this would which should not be used) and may be extended to
be an impossible task. detect other disorders later. Samples are taken before
Unlike many Western countries, neonatal screening infants are discharged from hospital. The baby’s birth
is still not routine in India. Generally, only high-risk weight is registered and the parents are informed of
newborns and infants are screened usually when the test results. The screening program is not truly
obstetricians/gynaecologists refer them to other spe- voluntary but implemented as ‘routine without noti-
cialists such as neo-natologists, paediatricians, neurol- fication.’ In other words, medical personnel take the
ogists and geneticists. The Indian Council for Medical consent of parents for granted, or as tacitly given,
Research (ICMR) recently invited proposals to set up either when the baby is born in the hospital/clinic, or
centres in different parts of the country to screen later when they seek neonatal medical care. Quite
newborns at several centres in India to assess the kind often the parents do not even know that the testing
of genetic defects they develop. This initiative aims to will be performed. It is subsumed, conceptually as
diagnose affected children at an early age in order to well as procedurally, under routine neonatal care, and
improve possibilities for treatment of genetic and ceases to be something about which a deliberate
metabolic defects before they develop into life-long decision has to be made by the parents.
burdens.
This practice thus amounts to de facto mandatory
Another important rationale for screening is to find
genetic screening; nevertheless, it goes virtually
out the prevalence of the types of genetic conditions
unchallenged, which is evidence that, despite
in the Indian population. All newborns will be
official tribute to the principle of informed
screened within 3–4 days of birth by means of blood
consent, coercive strategies may prevail to
and urine diagnostic tests so that if necessary,
ensure that the preventive benefits of genetic
treatment can begin 3 weeks after delivery, which is
screening can be reaped [12].
believed to be more effective than when it occurs only
at a later age. It is seen as a public health measure in Unless they are compulsory, genetic services are
terms of primary and secondary prevention, leading to active strategies, requiring the acquiescence of
Bioethical Inquiry (2007) 4:217–228 223

individuals. In most places newborn screening is In this way, a new class of ‘unpatients’ is created,
mandatory, but it is not a passive strategy because even though, the disease may not even have manifested
parental compliance is needed if screening is to itself [14].
prevent disabilities” [8]. An even more important ethical concern is: how to
ensure confidentiality, and prevent stigmatisation and
While many conditions may be diagnosable by
discrimination of affected children and their families,
screening, there is a lack of effective treatment for most
who may be viewed as genetically ‘abnormal.’ In the
of them. This ‘therapeutic gap’ [13] begs an important
Indian cultural context newborn screening may exac-
question: If there is no effective treatment available,
erbate the problem of finding a marriage partner,
what is the value of testing? Treatment options should
especially if the ‘affected’ child is female. It may
be in place before at-risk populations are identified by
result in individuals and families becoming social
screening tests. In India, parents may not be able to
outcasts, this time not on or not only on the basis of
distinguish between screening and treatment, and may
(low) caste affiliation, but also on genetic grounds. The
cherish false hopes that after screening the child will
Department of Biotechnology website (see above)
receive treatment and become healthy or at least free of
mentions that a few thousand people belonging to
the disease for which s(he) was screened. Where
socially underprivileged groups, including those from
treatments exist, many parents are unlikely to be able
Scheduled Castes (SCs) and Scheduled Tribes (STs)
to afford the high costs of ongoing treatment.
have been screened for detecting various genetic
In order to prevent birth defects, and provide
disorders. These groups have been singled out no
supportive care for the affected, it is essential to know
doubt due to eugenic anxieties that are common both
the incidence and prevalence of birth defects in India.
among the general public and among policy makers –
Although there are some statistics available from several
namely, that higher castes and economically privileged
hospital-based studies, it is difficult to generalise these
groups are producing fewer children, and those from
to the wider population due to selection biases.
the lower castes and the poor sections of society are
Geneticists and paediatricians argue that a registry of
responsible for most population growth.
birth will rectify this. Hence, The Fetal Care Research
The health insurance industry in India is still in a
Foundation, a not-for profit charitable trust, founded the
nascent stage, but it is expanding. Insurers may use
Birth Defects Registry of India in Chennai in 2001.
information about positive test results to limit their
More centres are expected to be set up in other parts of
own risks at the expense of those who have
the country in the near future. The data collected by the
undergone the tests and been found to be a ‘risk’.
registries will help the government formulate plans and
Genetic traits which lead to disease are literally
build strategies to combat the problem of birth defects. It
‘embodied risks.’ “This discourse of risk implicates
will also provide clinicians and consultants with
these practices and procedures in relations of power in
accurate information to pass on to parents during
ways that, for the most part, have not been critically
counselling.
interrogated” [15]. “Public health policies that focus
There are some ethical issues related to newborn
on individual risk factors are met with suspicion
screening which need attention.
because they could lead to ‘blaming the victim’
Newborn screening would seem to be the instead of striving for social change, and because
antithesis of eugenics. Saving life and improving they restrict individual freedom and place private
its quality rather than avoiding the birth of choice under public surveillance” [12].
infants with serious genetic diseases is the
primary goal of newborn screening. However,
in a recent US survey of ‘follow-up coordina- Decision-making Processes: The Construction
tors’ of newborn screening programmes, the of Choice
respondents in 19 states thought that children
identified by newborn screening were ‘unsuit- Although decision-making processes are often con-
able choices for future reproduction’ and that sidered in bioethics from the point of view of the
conveying this information should be one of the ‘autonomous individual,’ choices are always pre-
goals of counseling their parents [8]. structured by a range of factors including limited
224 Bioethical Inquiry (2007) 4:217–228

information and understanding; cultural values and where decisions ultimately fall to the couples and they
beliefs; family attitudes and influence; faith and do not feel under overt pressure from the family, the
religion, and social and economic conditions. ‘In- whole family is involved in the process of seeking
formed choice’ and ‘informed decision-making’ in the help. The family may accompany the pregnant
context of genetic testing entails at least that the woman when she goes for pre-natal tests, and
decision should be based on relevant information participate in decision-making thereafter, especially
regarding the characteristics of screening tests, and if the couple lives in a joint or extended family
the implications of the possible test results. It also setting. Sometimes, there appears to be a difference of
entails that the decision should be consistent with the opinion between the woman and her husband regard-
decision maker’s values. Accepting or declining ing treatment, especially because it is very expensive
screening should be founded on informed choice, and involves recurring costs. Gender differences in
because of the risks and moral values that play a part. attitudes towards genetic testing and decisions made
Prenatal screening may lead to diagnostic testing, thereafter should be explored further, especially given
which involves the risk of an iatrogenic abortion and, that women bear the main burden of responsibility for
in case of a positive test result, to the option of taking care of disabled children.
termination of pregnancy. Informed choice implies the Informed choice also implies respect for the client’s
ability or competence to understand complicated autonomy, which, like the concepts privacy and confi-
statistical relationships between genes and diseases. dentiality, and patient rights, is an underdeveloped
The goal of screening programmes should thus be to concept in the Indian cultural context. Indian patients
enable people to make informed choices, rather than rely heavily on the doctor’s advice about what course of
achieve uptake rates that are as high as possible. action should be followed, and because doctors are
International research has shown that often women usually regarded with a high degree of reverence,
lack sufficient knowledge about the different aspects patients seldom question their judgement. This poses
of (prenatal) screening, which impedes informed problems for the principle of non-directive counselling
decision-making. Informed choice appears to be and obtaining truly informed consent from women/
associated with the educational attainment of the couples for testing procedures. There are no indications
pregnant woman/couple. Higher education levels that geneticists and genetic counsellors pursue a hidden
correlate with higher levels of informed choice [16]. public health agenda by talking parents into aborting
My own research corroborates this. The higher the pregnancies against their will in order to reduce the
education level of the couples I interviewed, the more burden of congenital diseases in the population [12]. The
they sought information actively from service pro- ‘pressure’ to choose abortion after PND is more subtle:
viders, books and the Internet. This group expressed it arises mainly from the parents’ own understanding
some measure of satisfaction regarding the genetic that it is ‘not fair toward a child to bring it to birth with
counselling they received, whereas women/couples a severe disability.’ This was the most common answer
with lower education seemed less satisfied that they I received when I asked women whether they faced
were getting enough information. This could have to pressure in their decision-making process.
do with the complexity of the information, and
Thus, while it seems inconceivable that it will
unfamiliarity with the language in which it was
ever be adopted in our societies as public policy
couched. The latter group tended to ask fewer
or legal concept that parents who knowingly
questions during counselling sessions, and when I
bring foetuses with severe handicaps to birth
interviewed them later they asked me questions which
commit child abuse, parents may nevertheless
they should have put to the counsellor. The gap
feel pressure to terminate such pregnancies –
between those able to handle this complexity and
pressure from social environments which dis-
those who are not will have the potential to be a new
agree and pressure from ‘within’ themselves in
kind of social inequality [17].
terms of moral doubt [12].
It is difficult to ascertain whether all decisions are
the result of a process of deliberation. There is little Absence of manifest coercion must not be taken as
information available on the role of the family in proof that people can take truly autonomous deci-
decision-making in India. My observation is that even sions. While individuals may feel that they pursue
Bioethical Inquiry (2007) 4:217–228 225

their private preferences, they in fact execute collec- duces collective imperatives and social control.
tive functions and comply with social controls which This reasoning reminds us that individual beliefs
they have internalised. and preferences do not emerge from outside the
Foucault’s theory of power and his concept of society: rather they are acquired through the
‘governmentality’ are useful to analyse the connections processes of socialisation and acculturation [12].
between power, medicine and reproduction in modern
society [18–20]. Foucault differentiates between jurid- Individual choice is often used as an argument in
ical power, which is based on public rights, and the favour of the expansion of genetic testing services.
disciplinary power of the norm. He links the latter to Most of the interventions take place in the area of
the rise of a specific medical/scientific discourse that reproductive genetics. There is a widespread view
was brought to bear on the body during the Eighteenth among clinicians, scientists and policy makers, that the
and Nineteenth centuries. This discourse emerged birth of a disabled child is a tragedy best avoided. Just
alongside new medical practices and techniques that as in the past, professionals are making decisions about
were refined in the emerging institution of the clinic. what kind of people ought to be born, and these
The totality of these developments gave rise to a new decisions have a profound effect on people undergoing
type of power, which was tied closely to the genetic diagnosis and making the ultimate choice
development of a specific kind of knowledge. about whether or not to continue with their pregnan-
According to Foucault, medical power is diffuse in cies. Professionals have an inordinate amount of power
character; it is to be found everywhere and at the same and control over what genetic research gets conducted,
time it is difficult to pinpoint. It creates an order in how genetics is applied in the clinic and beyond in the
society by ‘normalising’ (i.e. by differentiating between wider community and how genetic research and
the normal and the abnormal). The normalising, services are regulated [21].
disciplinary power of medicine is inextricably tied to There are degrees of coercion and different
the development of advances in medicine and medical domains of control [12]. Degrees of coercion may
knowledge, and medical institutions come to play a include direct or indirect legal force, conditions for
central role in the moral regulation of the population. access to institutions/services, economic incentives,
The disciplinary power of the norm and the juridical persuasion and education, professional dominance,
power of laws are closely intertwined. Foucault points instilling a sense of moral duty and self-determination
out that one of the first effects of medical politics is the as societal governance. Domains of control could
restructuring and medicalisation of the family. A whole include mandatory newborn screening, routine screen-
system of medical care is built up around children, and ing (antenatal and postnatal) without notification,
the family bears the responsibility for this system of ‘active’ counselling of persons at risk and who want
care, serving as a link between the health of society as to know the risks in deference to the predominant
a general political objective and the individual need for cultural patterns of rationality. The concept of ‘risk’
health care. The power that accrues to those who are at has itself become a central organising principle of
the top of the hierarchy of sex, race, caste, class – as governmentality. Professional biases against handi-
embodied in the person of the doctor – can be capped children may be applied as pressure to abort
accounted for using a more traditional account of through directive counselling. For parents, it may
power as domination. imply a sense of moral duty, accepting a responsibil-
‘Governmentality’ assumes that in modern societies ity to bring only healthy children to birth. ‘Individual’
the locus of collective control is shifting from overt preferences for a healthy child thus comply with
patterns of power and domination to implicit orders fundamentally social norms.
represented in social and cultural discourses and Waldschmidt refers to genetic testing and pre-natal
practices. According to this line of argument, power diagnosis as “neo-eugenics” [22]. Neo-eugenics does
operates increasingly through self-regulation and self- not need to operate through direct forms of coercion,
discipline rather than violence or domination: pressure, open repression, or control. The state and
society no longer need to intervene in order to urge
the ‘order of the self,’ i.e. what people conceive people to do their eugenic duty, because now people
as rational, morally binding and desirable, repro- “voluntarily” adhere to eugenic lines of reasoning
226 Bioethical Inquiry (2007) 4:217–228

individually, without being expressly told to do so. It model in which the options offered by genetic
is supported and practiced “from below.” The choice screening technologies can be used optimally for the
of the individual becomes the medium through which realisation of preventive health care. In this way,
‘government’ is exercised [23]. ‘private’ and ‘public’ eugenics merge.
Most people agree that it is better to prevent Informed consent prior to screening would seem to
disease than to cure it; they accept that they ought to negate any ‘eugenic’ connotation. Considering how
participate in prevention out of duty to the commu- programmes are conducted, however – the incomplete
nity. Notions of rational behaviour, a sense of moral information often given to women/couples consider-
duty, and visions of a good life also shape individual ing an antenatal screening, the financial and care
preferences. As a result, people tend to bring about burden of raising children with conditions for which
through their private choice what might otherwise be screening is possible, and increasing intolerance in
imposed on them through public policy. They even society for imperfection and failure to use pre-natal
achieve as a collective effect of their individual diagnosis – the eugenic overtones are clear [8].
choices the reduction of the prevalence of congenital
diseases through selective abortion, which could not
be legitimately pursued in public health programmes Other Concerns Related to Genetic Testing
because that would be read as a return to eugenic and Screening in India
policy [12]. I see this being played out in decision-
making processes during pre-natal procedures in Is it ever justified to persuade/coerce people to
India. undergo screening tests, either through government
Given the history of population control in India, mandate or by exerting more subtle psychological
the spectre of coercion still looms in India’s public pressures? Fear of genetic stigmatisation or discrim-
health policy. We may yet see the revival of state- ination may deprive people of the real benefits of
driven mandatory preventive strategies which turn early diagnosis, treatment or prevention that result
genetic testing into a means of social control to from newborn screening. Unless there is a guarantee
enforce compliance with collective goals – and yet that test results and medical records are kept confi-
give the impression of having democratic support, dential, as well as protection of privacy for individ-
Short of this, the tension between public health uals and families and effective protection against
objectives and individual freedom will tend to remain post-test discrimination, many people may avoid
invisible so long as there is widespread voluntary testing out of fear that the test results could be used
compliance to genetic testing and screening pro- against them. While most people will agree that
grammes. What is significant in this respect is the confidentiality of traditional medical information
move towards privatisation of responsibility for health must be respected, genetic information poses partic-
in neo-liberal societies accompanied by the promotion ular dilemmas as it can have repercussions for close
of particular choices. As Ann Kerr points out [24], relatives of individuals who undergo testing. It may
“what is at stake today is a privatisation of responsi- affect their right not to know and interpersonal
bilities for preventing disability, or, if a test is relationships within the family. Samples collected
declined, facing up to the future of living with a for newborn screening potentially provide a ‘bank’ of
disabled child.” This process is not value-neutral: genetic material with immense potential value for
making individuals responsible for the birth of public health initiatives, epidemiological and labora-
healthy infants is the product of a moral discourse tory research and commercial products. In India,
which, is in part politically motivated, even if it knowledge of patient rights is almost non-existent.
appears entirely reasonable. It requires a commitment Most clients sign consent forms without reading and/
to shared social values and behavioural expectations or understanding them. Language forms a formidable
on the part of both individuals and the societies they barrier in this respect. Most consent forms are used
inhabit. With the proliferation of genetic tests, testing primarily to absolve service providers and medical
is becoming a part of ‘good parenthood’ at the institutions for any liability claims in the future.
individual level; at the societal level, community The psychological and social impact of genetic
genetics is emerging as a practice and as a future testing should not be underestimated. Testing gives
Bioethical Inquiry (2007) 4:217–228 227

rise to anxiety for those waiting to receive results. The Acknowledgements I would like to thank Dr I.C. Verma,
safety of tests is an issue, and so is fear of mis- Head of Genetic Medicine, and his colleagues from the genetics
unit and Dr V.K. Khanna, Head of Thalassemia programme at
carriage. False negative tests give false reassurances Sir Ganga Ram Hospital, New Delhi, for the cooperation
about the ultimate outcome of pregnancy, and false extended to me and allowing me access to their patients. Also,
positive tests lead to unnecessary anxiety and unnec- sincere thanks are due to the parents/families of thalassemic
essary abortions. Testing may lead to genetic discrim- patients who agreed to speak to me.
ination by health and life insurance companies and
employers, and may have no real benefits for those
who lack the means to pay for treatment.
Aggressive marketing of genetic tests raises an References
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