Introduction
For over four decades, knowledge that symptoms of some inherited
diseases can be prevented or reduced via early detection and treatment in
newborns has underpinned state-funded screening programs in most developed
countries.1
For a historical review, see
Guthrie R. Newborn screening: Past, present and future. In: Carter P,
Wiley AM, eds. Genetic Disease: Screening and Management. New
York: Alan Liss; 1986:319–39.
Conditions for which newborn
screening is now a recognized preventative public health initiative
include phenylketonuria (PKU), congenital hypothyroidism (CHT), and, more
recently, cystic fibrosis (CF) and sickle cell disorder (SCD). The use of
tandem mass spectrometry to detect conditions such as amino-acidopathies
and fatty-acid oxidation defects is also becoming increasingly
prevalent.
2 Levy HL. Newborn screening by
tandem mass spectrometry: A new era. Clinical Chemistry
1998;44:2401–2; Hopkins Tanne J. US Experts urge more neonatal
screening for genetic disorders. British Medical Journal
2004;329:876.
The early identification of children who are at risk for these
conditions can have very positive implications. To take the most
significant example, a child born with mutations that would otherwise lead
to symptoms of PKU will have a vastly different kind of life if the
condition is detected in early infancy rather than later. The introduction
of a modified diet at this time, although cumbersome, will prevent the
onset of severe mental impairment, allowing the child to lead a virtually
normal life.3
National Institutes of Health
Consensus Development Panel. National Institutes of Health consensus
development conference statement: Phenylketonuria: screening and
management. Pediatrics 2000;108(4):972–82.
Although clinical indications are sometimes more contentious when
justifying screening for other conditions, by and large newborn screening
is clinically valid and carries only minimal risk. However, it is
sometimes declined by parents, presenting healthcare professionals with an
ethical, legal, and practical dilemma. Consider the following scenario:
Emma and Tom both work as pediatricians in a large city hospital. They
have recently had their third child, a daughter named Clare. During a
postnatal visit to their home by a midwife, Emma indicates that she and
Tom do not want Clare to have any newborn screening. Emma reports there is
no family history of any of the diseases being screened for, and she feels
strongly that the probability Clare will have any of the conditions is so
low that it cannot justify subjecting her to an invasive test.
This scenario gives rise to three issues, each addressed below. First,
is Emma and Tom's refusal of newborn screening for Clare justifiable?
Second, should the law ever mandate newborn screening over parental
objections? Third, how should such refusals be managed in practice? Using
the example of PKU screening, it is argued that although refusals are
often difficult to defend, legal intervention is unjustified as a means of
compelling parents to allow their infant to be screened. Nevertheless, the
state may be justified in exercising some degree of
“influence” over parental decisionmaking, via the practices of
health professionals involved in newborn screening.
It is important to point out that besides that in the above scenario,
there are a variety of reasons why parents may decline newborn screening.
Parents may not wish to know whether their child will become ill or
whether he or she is a carrier of a recessive gene.4
This issue will arise particularly in screening for cystic
fibrosis or hemoglobinopathies, where a “false positive”
result discloses that the child is a carrier of the condition. In England
it is standard practice to report this result to parents.
They
may have particular religious or cultural beliefs condemning any invasive
procedure on a child who does not appear to be ill. They may perceive that
an earlier experience of screening with an older child was traumatic (via
the procedure itself or perhaps through a false positive result). Parents
may also decline screening because they do not want their child's DNA
to be stored and used in future research or because they reject the
increasing emphasis on genetics in modern society. A mother may decline
due to a fear about the child's misattributed paternity being
disclosed during subsequent clinical investigation.
Newborn Screening: History and Current
Practices
The first newborn screening program, to detect cases of PKU, was
initiated in many countries in the 1960s. Its purpose was to identify
those with the condition and enable early dietary intervention before the
onset of mental impairment. Screening for CHT was introduced in the late
1970s to early 1980s and CF screening has also been introduced in many
countries since that time.5
See, for example,
Elliman DAC, Dezateux C, Bedford HE. Newborn and childhood screening
programes: Criteria, evidence, and current policy. Archives of Disease
in Childhood 2002;87:6–9.
The diseases for which
newborn screening is offered differ from country to country, based on the
prevalence of particular conditions in any given population.
The significant resource implications of newborn screening necessitate
that testing should only be performed when justified by sound clinical
reasoning. In the United Kingdom, a key factor when evaluating the
introduction of new tests for newborn screening is whether the test meets
the National Screening Committee's Criteria.6
UK National Screening Committee. Criteria
for Appraising the Viability, Effectiveness and Appropriateness of a
Screening Programme. Available at: http://www.nsc.nhs.uk (accessed June 28,
2004).
Relevant factors include that the condition should be an
important health problem with a well-understood etiology, the presence of
an effective treatment or intervention, and evidence of ethical
acceptability of screening to all stakeholders. Screening for PKU easily
meets these criteria. However, screening for other conditions (such as
cystic fibrosis) is more contentious, as there is disagreement within the
empirical literature as to the value of early interventions.
7 See, for example, Castellani C. Evidence for
newborn screening for cystic fibrosis. Paediatric Respiratory
Reviews 2003;4:278–84.
In the United Kingdom, newborn screening is offered to parents at a
postnatal home visit when the infant is around six days old. A small blood
sample is obtained by way of a “heel prick” test, which
transfers the sample to a specially designed blood spot card (a
“Guthrie” card). These cards are sent to a regional genetics
laboratory for testing and “normal” results are given to
parents at the six-week health check. Any putatively positive result is
reported to the infant's family doctor without delay, to enable
further investigation. Approximately 1% of the 600,000 newborns screened
in the United Kingdom each year receive further investigation, but only
around 250 of these babies will have one of the conditions being screened
for.8
Sheffield Newborn Screening Laboratory.
The Newborn Screening Blood Spot Test (parent information
leaflet). 2004; UK Newborn Screening Programme Centre. Proposed
Standards and Policies for Newborn Blood Spot Screening—An
Integrated Consultation. 2004. Available at: http://www.ich.ucl.ac.uk/newborn/download/proposed_standards0604.pdf
(accessed July 1, 2004), at [2.2].
Parents Who Decline Newborn Screening
Uptake rates for newborn screening are generally very high, with more
than 99% of parents choosing to proceed.9
See
note 8, UK Newborn Screening Programme Centre
2004:[2.2].
In the United Kingdom, parents are able to
decline newborn screening with no repercussions, save for the returning of
a blank blood spot card to the laboratory. In the United States, parents
do have the right to opt out from otherwise mandatory testing, although it
is debatable whether this option is actually given to parents in practice.
The Irish High Court has upheld the decision of a couple who declined
newborn screening.
10 The North Western
Health Board v HW and CW [2001] 3 IR 622.
Despite
this right to decline screening, there is consensus among policymakers
that screening should be strongly recommended to parents.
11 See note 8, UK Newborn Screening Programme
Centre 2004:[4.2.5].
In terms of absolute numbers of parents who decline newborn screening,
few data are available. In England, screening is undertaken by separate
regional genetics laboratories and data sets are not pooled. In the United
States, a 1982 study of over 50,000 cases of newborn screening indicated
that 27 sets of parents declined, a refusal rate of 0.05%.12
Faden R, Chwalow AJ, Holtzman NA, Horn SD. A
survey to evaluate parental consent as public policy for neonatal
screening. American Journal of Public Health
1982;72(12):1347–52.
In Scotland, of the 53,000 babies born
there in 2003, the parents of 45 refused all newborn screening, and the
parents of a further 16 babies declined testing for CF and/or CHT, but
allowed PKU screening, an overall refusal rate of 0.116%.
13 Brown AJ, Mackenzie J, Fitch M, Estell A,
Aitken DA. Impact of obtaining signed consent for newborn screening tests
in Scotland. Proceedings ACB National Meeting, FOCUS 2004, Birmingham,
17–20 May 2004. Screening for PKU and CHT was refused by 0.034% of
parents in 2002, and 0.038% of parents in 2001.
The rate of
refusals for 2003 showed an increase over previous years, perhaps
attributable to the fact that 2003 also saw the introduction of written
informed consent and screening for CF.
Informed Consent for Newborn Screening
The process of obtaining informed consent to newborn screening
significantly varies within and between countries and has also changed
over time. Newborn screening can either be performed after informed
parental consent has been obtained or it can be mandatory. In some
countries it is not strictly mandatory but has become so routine that
parents rarely question or challenge the process, if indeed they are
informed about it at all.14
Clarke AJ.
Newborn screening. In: Harper PS, Clarke AJ. Genetics, Society and
Clinical Practice. Oxford: Bios Scientific Publishers;
1997:107–17, at p. 108.
In the United Kingdom, the past five years have seen a marked increase
in health service expectations for informed choice and the right to refuse
health interventions.15
Indeed, the practice of screening in
general has retreated from a “public health” model, which
emphasized only the benefits of screening and had the central goal of high
levels of coverage. Now, all screening programs are required (though not
by law) to offer individual choice.
16 Individuals should have
the opportunity to personally assess the risks and benefits of the
screening program and should not feel they are being coerced into
participation.
This change in emphasis is now reflected in newborn screening
practices. The UK Newborn Screening Programme Centre, motivated by concern
that limited or inadequate information invalidated consent for newborn
screening, reexamined informed consent procedures and developed national
policy.17
See note 8, UK Newborn Screening
Programme Centre 2004:[4.2.1].
The aim of the new
procedures is to enable “process consent,” the provision of
high-quality information to help parents make an informed choice, while
emphasizing that screening should be recommended.
18 UK Newborn Screening Programme Centre. Newborn Blood Spot
Screening for Your Baby (parent information leaflet). 2004.
Consent will be provided verbally.
In contrast to England, obtaining informed consent to newborn
screening is virtually absent in the United States. In all but two states,
testing is described as mandatory and is performed without parents'
informed permission. Theoretically, parents are able to opt out of newborn
screening, and parental education is encouraged.19
Wilfond B, Thomson EJ. Models of public health genetic policy
development. In: Khoury MJ, Burke W, Thomson EJ, eds. Genetics and
Public Health in the 21st Century: Using Genetic Information to Improve
Health and Prevent Disease. New York: Oxford University Press;
2000:61–81, at p. 63. Clayton EW. Talking with parents before
newborn screening. Journal of Pediatrics
2005;147:S26–S29.
However, information about screening is
often not passed on to parents until after the blood sample has already
been taken, usually in the neonatal nursery soon after birth.
20 Tluczek A, Mischler EH, Farrell PM, et al.
Parents' knowledge of neonatal screening and response to
false-positive cystic fibrosis testing. Journal of Developmental and
Behavioural Pediatrics 1992;13:181–6.
The practice of mandated newborn screening has been both lauded and
criticized.21
Paul D. Contesting consent:
The challenge to compulsory neonatal screening for PKU. Perspectives
in Biology and Medicine 1999;42(2):207–19; Press N, Clayton EW.
Genetics and public health: Informed consent beyond the clinical
encounter. In: Khoury MJ, Burke W, Thomson EJ, eds. Genetics and
Public Health in the 21st Century: Using Genetic Information to Improve
Health and Prevent Disease. New York: Oxford University Press;
2000:505–26, at 520–1.
In favor of mandatory
screening, Faden et al. have argued that to act otherwise would grant
“parents the right to consign their children to a state of
irreversible mental retardation” (p. 1397).
22 Faden R, Holtzman NA, Chwalow AJ. Parental rights, child
welfare and public health: The case of PKU screening. American Journal
of Public Health 1982;72(12):1396–400.
Against
mandated screening, Clarke suggests informed consent helps foster trust in
the healthcare system, notably the idea of “partnership”
between parents and professionals in providing care for a child.
23 See note 14, Clarke 1997.
Friedman
Ross contends that the obtaining of consent serves as a symbol of respect
for the family and educates parents about the value and purpose of
screening.
24 Friedman Ross L. Genetic
testing of children: Who should consent? In: Harris J, Burley J, eds.
A Companion to Genethics. Oxford: Blackwell Publishers;
2002:114–26.
Although the issue of mandating newborn screening is significant, it
will now be put to one side. It will be assumed that parents do have the
opportunity, one way or another, to intervene to decline newborn screening
in their children. A tension thus arises between parental autonomy,
children's welfare, and what constitutes reasonable state
interference. To explore this, the three questions posed in the
introduction will now be addressed.
Parental Refusals of Newborn Screening for
PKU Are Unjustifiable
It is well understood that parents possess legal and moral rights to
make a myriad of decisions for their children. Legally, parents can make
decisions for their incompetent children (including medical decisions), so
long as the decision is made with that child's welfare in mind.25
In most jurisdictions, this legal power is
derived from both common law and legislation. Where children have
sufficient capacity and understanding, they should be involved in medical
decisionmaking: United Nations Convention on the Rights of the
Child, GA Res 44/736 (1989), art 18.01.
Indeed, parental
authority is usually only set aside in cases of emergency, parental
abandonment, child abuse, or when life-saving treatment is being refused
by parents.
Parents who decline newborn screening are unlikely to be classified as
having abandoned or abused their children. Neither is newborn screening
for PKU likely to be classified as a “life-saving treatment”;
for children like Clare, there is no obvious indication that their lives
are at risk. Refusing newborn screening does appear, therefore, to be
within the scope of parents' legal rights to make decisions
concerning their children's upbringing and healthcare.
Morally, perhaps the best expression to describe the rights that Emma
and Tom have in raising Clare is “parental autonomy.” Although
less has been written about this concept as it applies to raising children
(as opposed to reproductive autonomy), two themes are clear. First, the
decisions parents make for children are significant and intimate to
private life, as they comprise an important expression of values,
preferences, and beliefs. Emma and Tom clearly have the right to express
their autonomy and individuality in raising their children, a right
against the state that should not be subordinated without due cause. To
say otherwise would undermine the preservation of intimate family
relationships.26
See, for example, Downie
RS, Randall F. Parenting and the best interests of minors. Journal of
Medicine and Philosophy 1997;22:219–31.
Second, Emma
and Tom's rights can also be underscored by their interest in
parenting, a concept that has been discussed in some detail by
Edgar Page.
27 Page E. Parental rights.
Journal of Applied Philosophy 1984;1(2):197–203, cited by
Downie and Randall, see note 26, 1997:224.
This interest gives
rise to their rights to make decisions according to their particular set
of values.
However there are, of course, limits to these moral and legal rights,
and they do not provide parents with a moral justification to act in any
way they choose. The mere fact that a parent wishes to pursue a particular
action in relation to her child does not convey a right to act to bring
this about. Parental autonomy is not absolute, as parents also have
obligations to facilitate their children to grow, develop, and eventually
exercise their own autonomy.28
Blustein J.
Parents and Children: the Ethics of the Family. New York: Oxford
University Press; 1982.
Emma and Tom's rights to make decisions for Clare are therefore
limited to those that further her welfare or the welfare of her family.
For Clare, the significant potential benefits and minimal risks of
screening for PKU would indicate that it is in her interests to be
screened, and she will certainly not remember the slight trauma of the
experience once she is older. Newborn screening for PKU (and some other
conditions) offers an opportunity to obtain a clinically valid diagnosis
with a low false negative rate. False positives are dealt with by way of
immediate follow-up and reassurance. A confirmed positive finding offers
the potential for earlier intervention and a consequent improvement in
quality of life.
Feinberg is one who would be likely to support the position that
parents should not decline newborn screening, at least for conditions
where an intervention is available. In his writing on a child's right
to an “open future,” Feinberg recognizes the unique moral
status of children and describes children as possessing “rights in
trust,” which have properties in common with autonomy-based rights
of adults.29
Feinberg J. The child's
right to an open future. In: Aiken W, LaFollette H, eds. Whose Child?
Children's Rights, Parental Authority, and State Power. Totowa,
N.J.: Littlefield, Adams and Company; 1980:124–53.
As
children cannot exercise autonomy-derived rights until they are
“fully informed and capable” (p. 25),
30 See note 29, Feinberg 1980.
parents have an
obligation not to let their values interfere with respecting what their
child may want for her future self. Although we are usually bound to
accept the autonomous but future-limiting decisions of competent persons
(subject to Mill's harm principle), children's future autonomy
should be maximized until they are able to make decisions for themselves.
Otherwise, we risk violating their rights in advance.
If Clare were to develop PKU, her later ability to exercise the rights
held in trust for her would be severely limited. Emma and Tom should
therefore protect Clare's future and take all reasonable measures to
prevent her from suffering irrecoverable harm. The absence of PKU in Emma
and Tom's family history does not mean Clare won't be affected,
and it also seems reasonable to assume that if Clare was able to make a
decision as an adult now, she would follow the path that 99% of parents
take and allow screening.
A further, broader argument can also be made that does not directly
relate to the interests of Clare or her parents. Undetected conditions
give rise to significant social resource implications. A UK healthcare
trust that misses a case of PKU will bear the costs of that omission for
the rest of that child's life. Although it would be Emma and Tom who
take on most of Clare's day-to-day care should she develop PKU, the
costs of medication, special education, and hospital services are likely
to be significant, and resources are likely to be lost from other valuable
ends (such as helping individuals whose diseases could not be predicted)
as a result.
These arguments are, however, subject to two counterarguments. First,
the claim that refusing screening is unjustified may smack of a
state-imposed ideal of perfection, raising the problematic specter of
eugenics. Invoking the claim that refusing screening is wrong could imply
that parents' decisions should be subjected to validation, and any
decision not in line with maximizing potential should be overridden.
However, this is not so implied. Those promoting newborn screening do not
claim that screening is designed to give rise to perfect children. Rather,
a straightforward screening test can help ensure that a child who may
otherwise have suffered irreversible harm can lead a relatively normal and
healthy life.
The second counterargument is that focusing entirely on Clare's
current and future best interests overlooks the potential harm that Emma
and Tom could suffer if a “false positive” result were
returned, such as anxiety or hypervigilance about Clare's health. As
described above, around 1% of newborn screens return an initially positive
result, requiring further follow-up, although this is not described to
parents in the United Kingdom as a “positive diagnosis.”31
Pollitt RJ, Green A, McCabe CJ, Booth A,
Cooper NJ, Leonard JV, et al. Neonatal screening for inborn errors of
metabolism: Cost, yield and outcome. Health Technology Assessment
1997;1(7):1–202, at p. 91.
Empirical studies have addressed
this issue with respect to PKU and other conditions.
32 For systematic reviews of this literature, see note 31,
Pollitt et al. 1997, Chapter 11; Green JM, Hewison J, Bekker HL, Bryant
LD, Cuckle HS. Psychosocial aspects of genetic screening of pregnant women
and newborns: A systematic review. Health Technology Assessment
2004;8(33):1–109, Chapter 9.
An early study described
“PKU anxiety syndrome”
33 Rothenberg MB, Sills EM. Iatrogenesis: The PKU anxiety
syndrome. Journal of the American Academy for Child Psychiatry
1968;7(4):689–92.
in which parents believed their child
would develop mental disability despite a subsequent negative result. This
was not, however, supported by data. Further studies have shown that
parents report no adverse changes in their parenting behaviors or
attitudes toward their children, although a minority do have lingering
concerns about their children's health.
34 See note 31, Pollitt et al. 1997; note 32, Green et al.
2004:92–3.
The prevailing opinion on this body of empirical
work is that if appropriate kinds and amounts of information are provided
to parents in light of an initially abnormal result, such harms should be
minimized.
35 See note 32, Green et al.
2004:92–3.
Although not vigorous enough to defend all parental refusals of
testing, these counterarguments do suggest at least one qualification to
the above argument that declining newborn screening for PKU is
unjustifiable. That is, the argument may not be applicable to instances of
refusals of newborn screening for other conditions where the balance
between the benefits and harms of screening might lean another way.
Contrary to screening for PKU or CHT, where a refusal runs contrary to
strong clinical evidence, Emma and Tom would be unlikely to place Clare at
any increased risk if they were to decline newborn screening for Duchenne
Muscular Dystrophy, where no intervention is possible to prevent the onset
of disease.
The Law Should Not Intervene to Compel
Newborn Screening for PKU
Most refusals of newborn screening are best viewed as a conflict
between parental autonomy on the one hand and the future welfare of the
child on the other. It has been argued above that Clare's future
welfare should usurp Emma and Tom's parental autonomy to decline PKU
screening. It is also important, however, to consider how this tension
should manifest in light of what constitutes reasonable state interference
in parenting.
Some have argued that legal intervention to compel newborn screening
is acceptable, if not required.36
Andrews
LB, Fullarton JE, Holtzman NA, Motulsky AG, eds. Assessing Genetic
Risks: Implications for Health and Social Policy. Washington, D.C.:
National Academy Press; 1994:100–1.
However, despite the
above argument that Emma and Tom's refusal is unjustified, it will
now be argued that the state should not intervene to compel newborn
screening for any condition, including PKU. The reason for this is that
although parental autonomy is subject to the constraint of children's
welfare, it also has an additional, counteracting element. Although
parental autonomy is not, of course, legally or morally limitless, parents
should (and do) enjoy a degree of freedom from state interference in
private and family life. The moral obligation to agree to newborn
screening for PKU does not follow on to a justification of using state
powers to compel parents to undertake this moral act.
37 Despite this counteracting freedom, the threshold for state
intervention in parental decisions made on behalf of children remains
poorly defined. Although the state is precluded from interfering in
parents' choices about their children's religious beliefs, there
are laws in place to ensure children receive a minimal standard of
education. Parents have abundant freedoms to determine what lies in their
children's best interests, and they significantly shape what kind of
person their child will become. Parents also have the liberty to undertake
all kinds of arguably unethical behavior in front of their children if
they wish to: They can smoke in front them, feed them the wrong kinds of
food, and fail to encourage enough physical activity. And although we
often wish that parents wouldn't dress their children in matching
outfits or subject them to truly embarrassing pastimes, we do not
interfere with their right to do this.
Several scholars have attempted to define this threshold in a more
formal way. For example, Schoeman has argued that, in general,
parents' decisions should not be supervened unless it can be shown
that “the decision of the parents would seem to be from most
perspectives to be shockingly reckless or negligent” (p. 58).38
Schoeman F. Parental discretion and
children's rights: Background and implications for medical
decision-making. Journal of Medicine and Philosophy
1985;10(1):45–61. This standard reflects the harm principle, where
parents' decisions should be accepted unless the child is placed at
substantial risk of serious harm as a result; see Diekema DS. Parental
refusals of medical treatment: The harm principle as threshold for state
intervention. Theoretical Medicine 2004;25:243–64.
Given the intimacy of the family, with its own goals and purposes, there
should be a high threshold of conditions breached (such as a serious
violation of parental authority) before the state should intervene to
protect the rights of a child. The abstract liberal principles of the
state, although important, do not reach into the majority of intimate
family matters. Although clinical expertise dictates that newborns should
be screened for PKU, it is evident that those in positions of clinical
responsibility and the courts do accept refusals of PKU screening,
suggesting that Emma and Tom have not committed a serious violation of
parental authority.
Goldstein cautions against two things: using the law as a blunt
instrument for handling dilemmas of this kind and recognizing the
importance of the fact that clinicians should not make value judgments in
the place of parents when the child's life is not at stake.39
Goldstein J. Medical care for the child at
risk: On state supervision of parental autonomy. The Yale Law
Journal 1977;86:645–70.
Noting that the law has a
strong presumption in favor of parental authority free from coercive state
intrusion, he argues that the law lacks the capacity to supervise the
delicately complex interpersonal bonds between parents and children. If
death is not a likely outcome of the healthcare choice, he claims there is
“no justification for Governmental intrusion on family privacy or
overcoming the presumption of … parental autonomy” (p.
664).
40 See note 39, Goldstein
1977.
If a child's life could be at stake, then the law can
only intervene in strictly defined circumstances, including agreement
within the medical profession about an absence of conflicting medical
advice about the need for the procedure. Although PKU screening is proven
medically, the likelihood that Clare will suffer harm is low, and so
Goldstein's threshold would not be met.
This suggests that Emma and Tom's refusal of newborn screening
for PKU should not become subject to legal interference. To act otherwise
would upset the finely drawn distinctions between state and
parent-mediated decisionmaking for children that occur in practice. Their
failure to have Clare screened, although placing her at increased risk,
falls within the class of parental freedoms that, although potentially
unethical, should not be regulated by law. Although most of us would
regard these as being within the scope of parental obligation, we would
feel most uncomfortable intervening with them any more strongly than the
current encouragements bestowed on parents by the state. After all,
society has a “tendency to conflate judgements about what is morally
right and wrong with judgements about what are wise and defensible public
policies” (p. 97).41
Murray T. The
Worth of a Child. Berkeley: University of California Press;
1996.
This argument for legal noninterference is not just about parental
autonomy. Like parental autonomy, the concept of children's best
interests also has a counteracting element, requiring that it not be
applied ad infinitum to the detriment of other valuable ends. It is in
Clare's best interests to belong to a family structure where Emma and
Tom are able to make decisions for her. As the state cannot provide
security or comfort for all children, a family (even with all the
complications, imperfections, and difficulties that each is likely to
have) provides the best environment for children's care and the
development of cherished relationships. Mistakes are sure to be made, but
children will benefit in the long term through being a part of a unit
where a parent can make decisions. Therefore, arguments informed by best
interests or the child's right to an open future must not interfere
to prevent Clare from growing up in an effective and autonomous family
environment.
Thus Emma and Tom's moral duty to consent to Clare receiving
newborn screening does not provide a necessary or sufficient reason to
give the arguments in favor of screening the force of law. Indeed, the
right to decline newborn screening has already been upheld legally in at
least one jurisdiction. In Ireland, the High Court has refused a request
from a health board to mandate newborn screening for PKU.42
See note 10, North Western Health
Board.
In this case, parents had declined testing on the
grounds that it was against their beliefs to inflict invasive treatment on
a child. Although the case was decided on the terms of the Irish
Constitution, some general principles also emerged. Specifically, although
the state has a duty to protect and defend its citizens' rights, this
duty is not unlimited. Families are in a special position as a natural,
primary, and fundamental unit, whose rights will often be superior to
those imposed by law. Courts should refrain from intervening in these
kinds of parental decisions, even if parents appear to be acting wrongly
or recklessly, so long as there is not a serious threat to the life or
welfare of the child. Although a child's safety is important, this
has to be viewed within the entirety of moral obligations present in
society.
43 See note 41, Murray
1996:86.
Risks of harm, particularly those with a low magnitude
and likelihood, can be accepted to protect other values, such as parental
autonomy.
This legal right to nonintervention in decisions to test children is
not without limits, and courts will on occasion mandate that testing take
place if the justification for testing was stronger. In the United
Kingdom, for example, a court has ordered an HIV test in a six-month-old
child born to an HIV positive mother.44
Re C (A child) (HIV testing) [2000] 1 WLR
2.
However, such a case would be unlikely to arise in the absence
of information such as the mother's positive status and so would be
unlikely to be applied in circumstances of newborn screening for PKU,
unless the parents were affected with or known carriers of this
condition.
The law therefore stops at the doors of our houses, most of the time.
And it should not enter to mandate newborn screening when parents decline.
Intrusion into private life is improper, save for extreme circumstances
such as a risk of death to the child or extreme welfare risk such as child
abuse.
Managing PKU Screening Refusals in
Practice
If what I have argued is correct, then parents should have the right
to decline newborn screening free from state intervention, even though
screening is the appropriate act from a moral perspective. However, one
problem remains: the practical ethical issues involved in handling such
refusals.
Presuming that current arrangements for carrying out newborn screening
(at least in the United Kingdom) are retained, it will be health visitors
or midwives who are presented with refusals of screening in practice. How
should such refusals be handled? Although parents who decline screening
should be offered information and counseling, it is also acceptable to
exercise a degree of influence over parents' decisionmaking.
In the United Kingdom, the prevailing attitude of policymakers is that
parents who decline testing should be provided with further information
and an offer of follow-up counseling.45
UK
Newborn Screening Programme Centre “Communication guidelines for
discussing newborn blood spot screening with parents” (leaflet for
midwives, no publication date given).
It should also be ensured
that screening is not being rejected due to communication problems, such
as language difficulties. However, parents should not be pressured to
agree to screening.
46 See note 8, UK Newborn
Screening Programme Centre 2004:[4.2.5]. See also note 17, UK
Newborn Screening Programme Centre 2004.
Policies such as this give rise to a conceptual difficulty. Parents
are not to be pressured into receiving screening; instead they must be
given the opportunity to exercise informed choice. Yet it is also policy
that screening should be strongly encouraged in order to reduce the burden
of disease. Attempting to marry these two policies is not easy and can
lead to conflict. This conflict can be resolved by emphasizing one over
the other, that is, justifying some degree of influence over parents'
decisionmaking about newborn screening.
This assertion is contentious. If parents feel pressured to make a
decision against their personal wishes, it could polarize their future
attitudes toward healthcare. It is therefore important to distinguish how
influencing parents' decisionmaking is not the same as coercing them
into accepting screening.
Coercion can be defined as the presence of an unreasonable external
pressure or constraint faced by a person when making a decision. According
to Beauchamp and Childress, for coercion to occur there needs to be an
intentional and credible threat of harm if a person does not decide in a
particular way.47
Beauchamp TL, Childress
JF. Principles of Biomedical Ethics, 4th ed. New York: Oxford
University Press; 1994:164.
An influence on parental decisionmaking about newborn screening is not
a coercive offer of this harmful kind. Parents receive no threats of harm
if they decline screening; indeed there are no repercussions at all, save
for an offer of follow-up and the recording of a note in the child's
health record for their future health observance. Influence could manifest
merely as a bias toward presenting the positive implications of screening,
albeit with open and honest counseling. Minimal time should be spent on
the refusal process and policy but parents must know of their right to
decline. The policy adopted in England, which does not involve written
informed consent, easily accommodates the achievement of this kind of
indirect and nonthreatening assistance with parental decisionmaking.
Therefore, rather than being concerned about the fact that the very
existence of a screening program compels people to be tested, influencing
decisionmaking instead provides a clear practical path for those
implementing screening and can aid in the achievement of the dual ends of
informed choice and promoting uptake. This will not limit parental
autonomy in any practical sense, as refusals such as Emma and Tom's
will still be accepted—they will just be encouraged to reason
through their decision and listen to the evidence in favor of
screening.
Care does, however, need to be taken when implementing this policy in
practice. Providing the liberty to influence decisionmaking also does not
condone the display of irritation or distaste at the supposed
irresponsibility of the decision made. Further, the liberty to influence
should not be translated as a duty to persuade.
Of course, the degree of influence that it is justifiable to exert
over parents will vary inversely with the degree of effectiveness of
treatment that is available. Midwives would be more justified in exerting
influence over Emma and Tom's refusal of PKU screening than they
would if they were to try and compel screening for CF or DMD, for example.
Also if the likelihood of harm were very low (say, if a disorder had an
extremely low prevalence, as is the case with some metabolic disorders),
then again there would be less justification for influencing Emma and Tom
to undergo screening.
Conclusion
In this paper, an argument has been advanced about the ethical, legal,
and practical friction observed in parental refusals of newborn screening.
The tensions between parental autonomy, children's welfare, and state
policy can arguably be resolved via a respect for both the value of
private and family life and the value of screening. It has been suggested
that despite the fact that parental refusals of newborn screening may be
morally unjustified, overriding parents' interests is very difficult
to reconcile with the right to legal noninterference.
This belt of protection around parents' decisionmaking for
children is clearly not unlimited. The argument certainly calls for some
further analysis, which is beyond the scope of this paper. A principled
account of parental autonomy is required—what kinds of acts or
interventions might give rise to an absolute right to refuse state
intervention, and which may only give rise to a prima facie right? This
will ensure that the right to noninterference in decisions to decline
newborn screening is not considered as a mere example of moral consistency
within the context of current parental freedoms.
The argument against noninterference is, of course, also subject to
empirical claims. For instance, a parent refusing newborn screening for a
very low prevalence condition with an unproven intervention would be more
justified in making such a refusal than a parent refusing screening for a
high prevalence, catastrophic condition that is easily preventable. As
newborn screening develops, the justification for refusals should be
revisited, albeit within the practical confines of laboratory
medicine.48
It may be practically difficult
to implement consent to screening for some conditions and refusal for
others.
These tensions between parents, health professionals, and the state
are certain to be brought into focus more acutely as genetic applications
continue to develop and new methods of analysis emerge. Future
technologies, such as whole genome sequencing, are under development and
are already being considered by policymakers. It is therefore important to
continually reflect upon these ethical, legal, and practical conflicts
over time.
