Screening is viewed by many as synonymous with
disease prevention and this why public engagement is growing at a rapid rate;
almost a third of a million more people are predicted to undergo bowel cancer
screening in 2018/19 compared to 2017/18 (1). It is generally accepted throughout
the world of medicine that screening is beneficial, however what if this quest
for disease prevention is actually doing more harm than good?   The
same question can be proposed in regard to predictive genetic testing (PGT). Even
though both screening and PGT aim to provide individuals with advantageous
knowledge of disease, it could be argued that both have the potential to
precipitate severe psychological implications. It is for this reason that the mental
health risk-benefit ration for screening and PGT must be evaluated.

In order to fully assess the psychological implications of screening and
PGT, it is imperative to gain a comprehensive understanding of the two terms. Public
Health England define  screening as  “the process of identifying healthy people who may be at
increased risk of disease or condition” whereas PGT can be simply defined as “the use of a genetic test in an asymptomatic person to
predict future risk of disease” (2, 3). Despite the similarities between screening and PGT, the
differences are large enough to potentially influence the psychological
implications of each. Screening focusses on healthy populations who have risk
factors for certain conditions and applies a simple, acceptable test to
identify disease indicators. Screening is not diagnostic; it will not identify
whether someone has/will get a disease or not, but merely whether an individual
from a population may be at further risk. Screening programmes are commonly
featured in pregnancy to help understand fetal risk of developing, or being
born with, a variety of conditions. One such screening programme is NHS Down’s
syndrome screening. Down’s syndrome (DS) is a condition characterised by an
additional copy of chromosome 21 (known as trisomy 21) (4). Symptoms of the disorder include mental impairment and a
variety of physical health consequences which result in a reduced average life
expectancy of  60 years old (4).  In the UK, DS
screening in optional test that pregnant women can undertake at 10-20 weeks
gestation and, depending on gestation at the time of the test, includes blood
testing and ultrasound scanning. Once testing is completed, coupled with
maternal factors such as age and weight, a score is calculated that determines
the chance of the fetus being affected. A mother can then decide whether or not
to undergo further diagnostic genetic testing and, depending on the outcome,
potentially terminate the pregnancy (5).   

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      Both screening
and PGT identify potential influencers to the progression of a disease,
however, rather than assessing a whole population, PGT begins with a healthy
individual who has strong indication of future illness development (e.g. a
strong family history of a disorder). Unlike screening, PGT is diagnostic and
looks at the individual’s genetic mapping in order to predict the progression,
if any, of the identified disease. PGT is best explained by looking at a
condition such as Huntington’s disease (HD). HD is an autosomal dominant
condition meaning that offspring of an affected individual will have a 50%
chance of inheriting the gene and therefore developing the condition. The HD
gene, identified in 1983 by Gusella et al(6), can be found on chromosome 4 and codes for the production
of Huntingtin protein, for which the exact function is currently unknown.
Within said gene is the nitrogen base sequence CAG (Cytosine, Adenine, Guanine)
which, in healthy individuals, is repeated 9-37 times (7). In those with a faulty HD gene, the CAG sequence is
repeated 37-80+ times resulting in increased Huntington protein production and
build up in the brain’s basil ganglia and cortex (8). Symptoms, which include motor, cognitive and psychological
disturbances, appear at an average age of 30-50 years and once presented, the
disease usually lasts 17-20 years, ending in death, most commonly from
pneumonia or suicide (9).  Age of symptomatic
onset has been shown to be negatively correlated with the number of CAG
repeats; shorter HD genes are linked to later symptomatic onset (10).  The pathogenesis of
HD is a major reason for why PGT can help an individual understand the future
of their condition; PGT can identify the length of the HD gene and thus provide
a broad age range for when symptoms may present.

     By drawing on
relevant literature, personal experience, independent thought and by paying
particular attention to the examples of HD and DS, this essay will critically
discuss the psychological effects and implications of
screening/PGT in the UK and evaluate
whether NHS screening/PGT does more harm than good.




     Psychological distress has
been directly linked to poorer health outcomes in many diseases such as
rheumatoid arthritis, multiple sclerosis and Parkinson’s disease (11-13). Not only does stress negatively affect illness, but has also been shown
to chronically diminish general well-being in healthy populations. A cohort study
by Kulmala et al(14) found higher levels of self-reported stress were positively
correlated with disability and ill health in subjects 28 years later. This research
highlights the dangers of disrupting psychological equilibrium and reinforces
the idea that if screening/PGT causes significant mental distress, then the
consequences may outweigh the benefits.  In
order to evaluate this psychological impact it is important to gauge the
triggers of said distress.

     The potential presence of
disease is often accompanied by overwhelming uncertainty. Research by Ireys et
al(15) considered what causes uncertainty in disease and how said uncertainty affects
mental health. 286 young adults suffering from a variety of chronic health
conditions were interviewed and psychologically assessed using a 29 item psychiatric
symptoms index scale. The study revealed two major findings: uncertainty was a
result of symptomatic/prognostic unpredictability, and higher levels of
uncertainty were positively correlated with poorer mental health. As previously
discussed, PGT in HD can not only help an individual understand whether or not
they will get symptoms, but also provide a broad age range suggesting when symptoms
are likely to present. By increasing disease predictability, PGT has the
ability to reduce disease uncertainty and consequently, promote psychological
well-being. On the contrary, applying Ireys et al’s research to screening suggests
it potentially increases mental health disturbance; screening only indicates
the need for further testing and therefore a positive screening result will not
answer patient questions but instead pose more. These new unknowns could escalate
uncertainty and therefore diminish psychological wellbeing.

     Uncertainty may be exaggerated
if the method used to identify disease markers lacks sensitivity (ability to
detect people with the disease) and specificity (the ability to detect people
without the disease). PGT looks directly at genetic mapping and as >99% of
individuals who have HD have extensively repeated CAG nitrogen bases, the sensitivity
of PGT in HD is >99% (16). With regard to specificity, no patient with a CAG sequence repeated 40
or more times has been HD free, and therefore using 40 repeats as the cut of
results in the specificity of PGT in HD being 100%(16). CAG sequences repeated 27-39 times pose more of an issue; it is
uncertain as to whether alleles of this size will result in disease or not (17). Discovering a chromosome 4 CAG sequence in this range would not give a
patient answers, but exacerbate their uncertainty and increase psychological
distress. Sensitivity and specificity is also an issue when screening for DS in
pregnancy. Sensitivity of serum testing for DS is found to be around 80%,
meaning that 20% of women who are tested may be given a false negative result
and will therefore continue with a pregnancy that they may not be fully
prepared for(18). DS screening has a false positive rate of approximately 5% and
therefore 1 in 20 women screened will be incorrectly told their child may have
DS and will be advised on further testing (18). It is important to note that these values refer to DS serum screening
using a triple test (AFP, b hCG and uE3), commonly used in Canada and the
United States, not the dual test (b hCG and PAPP-A) used by the NHS. Despite
this discrepancy, the theory behind the discussion remains the same.
Controversy comes from the further analysis that positive DS screening precipitates;
a patient highlighted by screening will be offered diagnostic testing of
amniocentesis or chorionic villous sampling (CVS). Amniocentesis consists of
inserting a needle into a woman’s uterus and extracting amniotic fluid for
further investigation (19). This is similar to CVS, however instead of aspirating amniotic fluid,
placental tissue is the target (19).  Both techniques carry a
procedure-related miscarriage risk of 0.5-1%. Combining the false positive rate
of DS screening with the higher procedure-related miscarriage risk reveals that
potentially 5 in every 10,000 women participating in DS screening are
needlessly losing healthy babies and being subject to significant emotional



     In order to fully evaluate
whether NHS screening/PGT does more harm than good it is essential to
understand the main aspects of testing that disrupt psychological equilibrium. Research
by Eborall et al(20) observed which aspects of type 2 diabetes
screening had implications for a patient mental health. Using standardised
questionnaires, anxiety and depression levels were measured throughout the
screening process and compared to a non-screening control group.  The study found no statistically significant
association between increased anxiety/depression levels and being invited
to/undergoing the screening tests, but did however find initial increased
anxiety/depression in those who had received a positive result compared to
those who had not. Screening tests are largely non-invasive and target whole
populations rather than individuals; this may be why being invited to screening
and undergoing the test did not result in mental disturbance. Eborall et al’s
research supports the previously discussed idea that positive screening tests result
in negative psychological consequences.

     Unlike screening, research has shown that
receiving a positive results is not the main cause of distress in PGT. Keenen
et al(21)
interviewed 12 young people aged 17-26 during the processes of HD PGT and
identified provokers/protectors of mental wellbeing. The study found participants
who viewed their time undergoing PGT as negative, disclosed the anxiety of waiting
to receive results as the biggest factor for why they had a poor experience. Compared
to screening, results from PGT take longer to be produced and therefore a
patient is subject to uncertainty for a far greater length of time. The study
also found that some participants viewed testing to be a journey of
empowerment, allowing them retake control of their lives and dispel anxiety
associated with uncertainty.  Keenen et
al’s research highlights that different responses/attitudes elicited by the
same stressor can depend on the individual exposed. These different reactions
to stress may be critical in helping deciding whether NHS screening/PGT does
more harm than good.

     Leventhal’s(22) Common Sense Model of self-regulation
of health and illness (CSM) (figure 1) can be used to explain why some
individuals cope better with stress than others.

Figure 1. A simple
representation of Leventhal’s Common Sense Model of self-regulation of health and illness.

perception of illness is the basis for the model and underpins how an individual
may begin to understand their disease and implement strategies of coping. The
model is comprised 2 parallel processes, the emotional response and the
cognitive response. The cognitive response to illness is dependent on 5 key
areas: identity, cause, time-line, consequences, and
curability/controllability. Identity refers to the label that a person gives
their disease/symptoms, cause refers to the belief an individual has regarding
what has caused their illness, time-line refers to how long an individual
perceives their illness will last, consequences refers to how a person believes
their condition will impact their life, curability/controllability refers to
the perceived control a person has over their symptoms/the belief their condition
can be cured (23).  Emotional and cognitive responses run
simultaneously on parallel tracks and thus separate coping strategies must be
applied to each. Eventually an individual will appraise their ability to cope
with the stressor and this determines the psychological impact of the stimulus.  A confident person, who has controlled
emotional responses and does not believe their illness to be life limiting may
view testing as a ‘journey of empowerment’. Conversely, a pessimistic person
with exaggerated emotional responses and expectations of severe biographical
disruption may view testing as a negative experience.

     As the CSM model demonstrates, the severity
of psychological impact to an identical stimulus (e.g. the same disease/test)
can depend on the individual exposed to said stimulus. This model also suggests
that the harm done by screening/PGT is also dependant on the disease that is
being tested for; if a person is being tested for a severely debilitating
disease their emotional/cognitive responses will be completely different
to  if being tested for a disease that
they perceive as trivial. The idea that testing for different diseases produces
varied levels of psychological distress is supported by the discrepancies in
results from studies investigating mental wellbeing and screening/PGT. A study
by Kitano et al(24)
found that 70% of women who were recalled for further breast cancer screening
scored highly on the Hospital Anxiety and Depression questionnaire. Adriaanse
et al(25) also
investigated the psychological impact of screening, but instead of breast
cancer, type 2 diabetes was the primary focus. The study used qualitative data
collection methods to gather information about 40 subjects’ psychological
wellbeing after receiving their screening results; 20 out of the 40 subjects
received a positive result.  Only 1 out
of the 20 participants (5%) who had received a positive result expressed
concerns with their outcome.  Even though
both studies observed screening and psychological distress in response to a
positive finding, the results presented were found to be contrasting,
suggesting that the condition tested for has major influence on severity distress
caused. As both studies were not undertaken in the UK, and it cannot be
guaranteed that international screening is identical to NHS programmes, caution
must be taken drawing conclusions from the data.


Personal Experience

time at medical school has given me the opportunity to witness first-hand the
psychological implications of screening and PGT. During my 4th year
obstetrics and gynaecology placement I was given the opportunity to observe a
young couple’s routine 12 week ultrasound scan. I remember the consultant
informing me that the couple had opted to undergo DS screening and then continuing
to say “not many people undergo DS screening anymore, for most people it
doesn’t bother them whether their child has DS or not”. Despite no malicious
intent, after the patient and partner had heard what the consultant had to say,
they both expressed the same look of guilt and shame.  Whilst some may view this incident as trivial
or insignificant, the emotional pain that I witnessed was unforgettable.  After leaving the clinic I took time to
reflect my experience and think about how this had influenced my beliefs. I considered
a new aspect for what could potentially cause psychological distress in
screening; society attitudes.  In order
to minimise psychological distress associated with screening, a society must
first accept that it is an individuals right to undertake the test and to do
what they wish with the result received. A young couple should not have to feel
guilty for undergoing DS screening in order to make sure that they do not have
a child they are incapable of raising. I feel that as a society the UK is not fully
united in the acceptance of patient decisions and as a result NHS DS screening
programmes may be causing unnecessary psychological distress.

    As well as DS screening, I have also
experienced the psychological turmoil that the availability of PGT can generate.
Whilst observing a paediatric clinic at the Blackpool Victoria hospital, I
witnessed a devastating case in which a 14 year old boy unknowingly had a
family history of HD. Despite his mother and aunt both recently dying of HD,
the boy had no idea that their illness could be inherited and he had a 50% of
also carrying the gene. The paediatrician was convinced that some HD cognitive
symptoms were beginning to present and therefore was considering having a very
difficult conversation with the patient. Without concrete proof of disease, the
doctor knew that the patient would react in a negative manner, potentially
causing himself psychological distress. Being 14 years old, the patient would
not have been eligible to undergo PGT;  
the modified Family Law Reform Act 1969 only allows anyone over the age
of 16 to give full consent for a procedure (26).
Consent could have technically have been achieved via Gillick competency,
however the doctor did not think the patient was mature enough be able to
achieve this.  An incredibly difficult
dilemma was created by the presence of PGT; should the doctor tell the patient
of his likely disease knowing he would have to wait two years for confirmation?
Or should the doctor allow the patient to be ignorant of his illness even
though the onset of symptoms may have already begun? After reflecting on this
case I began to consider the importance of responsibility in genetic testing. I
believe coping with the knowledge that you are going to develop a debilitating
disease and die would take incredible strength. In order to minimise
psychological distress caused by PGT, patients would have to have the responsibility
and self-honesty to know if they are strong enough to deal with a potentially
demoralising result. The 14 year old boy was not eligible for PGT, but if
Gillick competency was granted, would he have been responsible enough to know
the limitations of his own emotional resilience?










Literature, creative
thought and personal experience all suggest ambiguity regarding the answer to
the questions posed by the essay. Uncertainty surrounding disease symptoms and diagnosis
is a major factor in what increases psychological distress and therefore
physical health. As PGT, especially in HD, provides an individual with
clarifying information about the disorder, it could be argued the testing
reduces uncertainty and therefore eases psychological distress. Conversely,
screening does not definitively answer patient questions and therefore it has
the potential to worsen mental wellbeing. No matter how much information screening/PGT
provides, uncertainty may still be present if a tests sensitivity/specificity
is not 100%. Patients who are found to have HD gene CAG repeats of 27 – 39 pose
a problem as it is unclear as to whether disease will present. DS screening’s
false positive rate of 5% creates a problem as this leads CVS/Amniocentesis, which
has a procedure-related miscarriage risk of 0.5-1%; psychological distress will
be caused by the uncertainty of results and the turmoil of a potentially
avoidable miscarriage. These factors of uncertainty may have less psychological
implication if an individual has effective resilience to stressors. The CSM outlines
how differences in emotional response and lay beliefs directly affect
individual ability to cope. This model also suggests the psychological effects
of screening/PGT are influenced by the disease being tested for. The idea of
disease influence is supported by conflicting results from studies that look at
the psychological impact of screening in different illnesses. Incorporating
personal experience brings forward the argument that psychological distress in
the form of guilt will always surround screening/PGT in a society that is not
prepared to full accept patient decisions. Personal experience also reveals the
concept that individuals must be responsible enough to know when they do not
have the psychological resilience to cope with the process of testing. Overall,
due to the diverse range of diseases, testing processes and personalities, it
is impossible to definitively say whether NHS screening/testing does more harm
than good, but until the UK unites in accepting patient autonomy, testing will
always have psychological implications. 

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