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215.Genetic Testing and Screening

215.Genetic Testing and Screening

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B io F actsheet
Number 215www.curriculum-press.co.uk
Genetic Testing and Screening
This Factsheet:
explains how genetic testing and screening are carried out
summarises the ethical issues associated with testing andscreening
provides examples of the types of exam questions that havecome up in recent yearsStrictly speaking, genetic testing is used with
who,perhaps because of their family background, believe that they, theirchildren or future children may be at risk of carrying the gene for agenetic disease. Genetic screening involves wider scale testing of 
to determine those individuals that are at risk of agenetic disease. However in the exam, most questions treat testingand screening as the same thing. Be careful though and read thequestion carefully!Genetic testing can be used to predict the likelihood that an individualwill suffer from a genetic disease. Testing can be done:1.Pre-implantation e.g. by Preimplantation Genetic Diagnosis2.Pre-natally, e.g. by amniocentesis on 35+ women to test thefetus for Down’s Syndrome3.On new-born babies4.On children, for diseases that may become a problem later in life,and5.On adults, for diseases that normally onset later in life
1. Preimplantation Genetic Diagnosis
Fig.1 shows the process of Preimplantation Genetic Diagnosis (PGD),which can be used to prevent the birth of babies carrying seriousgenetic diseases such as cystic fibrosis or sickle cell anaemia.
Fig 1. PGD
EggSperm+8 cell embryoRemove oneor two cellsfor testingTest genes orchromosomesTest resultsGenetic disorderexcludedGenetic disorderdetectedEmbryo implantedEmbryo discardedThis raises clear ethical problems, as we shall discuss later, but,taking Cystic fibrosis as an example, it also raises other problems.
Cystic fibrosis
is caused by a single mutant
allele onchromosome 7.Heterozygous carriers have normal phenotypes because therecessive CF-allele is masked by the dominant normal allele.However, carriers can pass on the CF-allele to their children.Carriers having fertility treatment will be offered PGD to identifyembryos that do not contain two affected alleles. However
doctorswill normally test the genes of the developing fetus again duringthe early part of the pregnancy to guard against
false negatives
andthe possibility that the PGD was wrong.
What is a False negative?
The CF gene mutates in more than 800 different ways. If the personbeing tested has an unusual mutation their test result may show afalse negative. In other words, the test may indicate that the gene isnormal when it is, in fact, mutated.Table 1 summarises the frequency of the CF mutation and falsenegative tests in different ethnic groups in Britain.
Table 1
Ethnic originEuropeanAsianBlackFrequency of a CFmutation
1 in 20001 in 140001 in 90000
Percentage of testsgiving false negative
Typical Exam Question
In the US, every prospective parent is offered the CF test. In Britain,only those at higher than normal risk are tested.Using the data in Table 1 and your own knowledge, suggest why itmay not be sensible to
test all future parents in Britain for CFmutations (2)
       M    a    r    k   s    c    h    e      m    e
  I  n  c  i  d  e  n  c  e  i  n  s  o    m  e  e  t  h  n  i  c  g  r  o  u  p  s  i  s  v  e  r  y  l  o   w ;    T  h  e  r  e  f  o  r  e  n  o  t  c  o  s  t  -  e  f  f  e  c  t  i  v  e ;   S  o    m  e  e  t  h  n  i  c  g  r  o  u  p  s  h  a  v  e  h  i  g  h  f  a  l  s  e  n  e  g  a  t  i  v  e  r  a  t  e ;    T  h  e  r  e  i  s  a  r  i  s   k  o  f  p  r  e j  u  d  i  c  e  /  d  i  s  c  r  i    m  i  n  a  t  i  o  n  a  g  a  i  n  s  t  c  a  r  r  i  e  r  s ;    F  r  e  e  d  o    m  o  f  c  h  o  i  c  e  /  s  o    m  e  p  e  o  p  l  e  d  o  n  o  t   w  i  s  h  t  o   k  n  o   w
Bio Factsheet
215 Genetic Testing and Screening
2. Pre-natal testing (during pregnancy)
Table 2 summarises the techniques that can be used for pre-nataldiagnosis.
Typical Exam Question
Sufferers of Down’s syndrome have an extra copy of chromosome21 i.e. 3 copies instead of 2 as a result of the chromosomes notseparating properly (non-disjunction). Scientists investigated theway in which 323 people with Down’s syndrome were initiallydiagnosed. All
had been screened before 24 weeks of pregnancyby one of three different tests,
B or
in approximately equalnumbers.The results are shown in Table 4.
TechniqueAmniocentesisChorionic villisamplingMaternal serumscreeningUltrasonographyand fetoscopyWhat it involves
Removal of smallvolume of amniotic fluidthat bathes the fetusand contains cells fromthe fetus. The proteinsin the fluid can beanalyzed as they may beabnormal in spina bifidaor the numberof chromosomes can becounted (Down’ssyndrome sufferershave 3 copies of chromosome number 21)Removal of cells fromedge of placenta, mostof which is fetal tissue.Provides more DNAthan amniocentesisTests mother’s bloodfor presence of fetalproteinsTechniques for gainingan image of the fetus
Abnormality detected
Down’s SyndromeSpina bifidaCystic fibrosisHuntington’s diseaseMuscular dystrophySpina bifidaOrgan abnormalities
Table 2Table 4
a) Which screening test was most successful in detectingDown’s syndrome? (1)
Calculate the percentage of cases of Down’s syndrome thatwere detected before 24 weeks of pregnancy (2)(c)
Suggest how the use of these tests could be made moreeffective (1)
Screening testABC
No. of cases of Down’ssyndrome detected before 24weeks of pregnancyNo. of cases of Down’ssyndrome detected at orafter birthTotal No. of cases of Down’ssyndrome
       M    a    r    k   s    c    h    e      m    e
  (  a  )  t  e  s  t   B   (  b  )  1  5  3  /  2  8  1 ;   =  5  4 .  5    % ;   (  c  )  c  o    m  b  i  n  e  t  h  e  t  e  s  t  s  /  u  s  e    m  o  r  e  t  h  a  n  o  n  e  t  e  s  t ;
3. New-born babies
About 650,000 babies are born in England and Wales each year.They are all screened for four genetic diseases (Table 3).
Table 3
Genetic diseasePhenylketonuriaCongenitalhypothyroidismSickle cell diseaseCystic fibrosisIncidencein UK
1 in 120001 in 40001 in 40001 in 2500
Benefits of early diagnosis
Diet low in theamino acidphenylalaninepreventssevere mentalhandicapMedicationpreventsseverementalhandicapEarly treatmentreducessymptoms andimproveshealthEarly treatmentreduces somesymptoms
Test firstintroduced in
1969198120062007As you may have realised, tests for CF may be carried out pre-implantation, pre-natally and after birth!
4. Genetic testing of children
Why test children for genetic disease?The simplest case is when a genetic test is done to confirm a medicaldiagnosis. For example, if a three year old has blocked lungs, poordigestion and low weight, it makes sense to test them for cysticfibrosis.In families where the dominant disorder familial adenomatouspolyposis coli (FAP) is present, there is an increased risk of bowelcancer. If tumors are detected early, they can be removed so childrenin families where FAP is present are often screened for signs of cancer from the age of 10.Other tests on children are more controversial. For example, thegenetic disorder Huntington’s disease (HD) only appears inindividuals aged 40+. There are arguments for and against testinga child for the mutation that causes HD.
It allows the parents to prepare for the later care of the individual(they may not be alive to do this themselves of course)
The child loses the ability to make a future decision aboutwhether to get tested
Unlike with adults’ tests, there is a loss of confidentiality
If positive, the child may be disadvantaged if people have lowerexpectations of the child
Bio Factsheet
215 Genetic Testing and Screening
5. Genetic testing of adults
Huntington’s Disease (HD) is late-onset (doesn’t develop until 40years of age), non-treatable and fatal. So what should a 20-year-oldman who knows that HD is in the family do? Is it better not to knowand live in hope or take the test and, then, if it’s positive, live thenext 20 years knowing that death approaches? How would knowingthis affect his decision about a job, a partner, having children?
Advantages of taking the test
peace of mind with negative result
knowledge that his children will not have HD
if positive, he can choose not to have children or PreimplantationGenetic Diagnosis can be used
if positive, he can change his diet to delay onset
Disadvantages of taking the test
no known cure available so increased stress if positive
worry that his children may inherit the disease
may result in his partner having abortions
discrimination by insurers/employers
What makes an effective genetic test?
reliable (no false positives)
simple and painless
rapid turnaround of results
counselling follow-up
education about the test
well advertised
complete confidentialityThe success of the Human Genome Project – which has mappedout the entire human genome – is going to identify many moreharmful genes which could then be screened for. Some scientistsargue that we should screen the entire UK population to find out if they have a genetic predisposition to certain diseases, such asheart disease or lung cancer. Someone who is told that they have apredisposition towards heart disease may than have more regularcheck-ups and decide to avoid eating excess fats and would notbegin smoking cigarettes, for example.The benefits of screening everyone would bring benefits to societyas a whole:
It would be easier to determine medical research priorities
Better use could be made of health service budgets by targetingthose most at risk 
At-risk individuals could be given early treatment, reducing theirsuffering and reducing later costs
At-risk individuals could be offered genetic counseling aboutissues such as having children
Many people would receive reduced insurance premiums whenit was shown that they were not at risk of genetic diseaseOther scientists are more cautious, arguing that it could causeserious problems in society:
There is evidence that when people are tested for multifactorialgenetic diseases such as diabetes and heart disease, even if they test negative, they become convinced that they are goingto get the disease anyway and find it hard to adopt a positivelifestyle – in other words, they become fatalistic
The tests are not predictive – they simply indicate risk – andthis is a difficult concept to explain to the public
Increased stress of known sufferers
People who are not at risk may feel that their taxes are not beingspent on them
Risk of abuse of the information by vested interests e.g.insurance companies, employers, immigration officers
     A    n   s      w    e    r   s
  i  d  e  n  t  i  f  y  t  h  e  g  e  n  e  r  e  s  p  o  n  s  i  b  l  e  f  o  r  t  h  e  d  i  s  e  a  s  e
   D  e  s  i  g  n  s  u  i  t  a  b  l  e  g  e  n  e  p  r  o  b  e  f  o  r  t  h  e  d  i  s  e  a  s  e  e .  g .  o  n  e   c  o    m  p  l  e    m  e  n  t  a  r  y  t  o  g  e  n  e  /  r  a  d  i  o  a  c  t  i  v  e  l  y  l  a  b  e  l  l  e  d  /  f  l  u  o  r  e  s  c  e  n  t  l  y   l  a  b  e  l  l  e  d  ) ;
  e  x  t  r  a  c  t   D   N   A  f  r  o    m  p  a  t  i  e  n  t  e .  g .  b  y  c  h  e  e   k  c  e  l  l  s   w  a  b
  c  u  t   D   N   A  u  s  i  n  g  r  e  s  t  r  i  c  t  i  o  n  e  n  d  o  n  u  c  l  e  a  s  e  e  n  z  y    m  e
  s  e  p  a  r  a  t  e   D   N   A  u  s  i  n  g  g  e  l  e  l  e  c  t  r  o  p  h  o  r  e  s  i  s  e .  g .  a  p  p  l  y  c  u  r  r  e  n  t   a  c  r  o  s  s  a  g  a  r  o  s  e  /  p  o  l  y  a  c  r  y  l  a  t  e  g  e  l
   D   N   A    m  o  v  e  s  t  o   w  a  r  d  s  a  n  o  d  e
  s    m  a  l  l  e  s  t  f  r  a  g    m  e  n  t  s    m  o  v  e  f  a  s  t  e  s  t  /  f  u  r  t  h  e  s  t
  t  r  e  a  t   w  i  t  h  a  l   k  a  l  i  t  o    m  a   k  e   D   N   A  s  i  n  g  l  e  s  t  r  a  n  d  e  d
   U  s  e  S  o  u  t  h  e  r  n  b  l  o  t  t  i  n  g  /  t  r  a  n  s  f  e  r  o  n  t  o  a  n  y  l  o  n  /  n  i  t  r  o  c  e  l  l  u  l  o  s  e     m  e    m  b  r  a  n  e
  d  i  s  c  l  o  s  u  r  e  u  s  i  n  g  x  -  r  a  y  f  i  l    m  /   U   V  l  i  g  h  t  /  l  a  s  e  r
Typical Exam Question
Outline the steps in testing for Huntington’s disease
General advantages and disadvantages of genetictesting/screening
If negative, reduces uncertainty and fear and may increaselife-expectancy
allows sorting of IVF embryos or PGD
individuals can identify if they are carriers of a harmful genebefore they have children
allows informed decision about IVF /egg/embryo donationso fewer children with genetic disease will be born
lower long-term health costs
frequency of harmful alleles reduced
allows early diagnosis of disease
allows earlier treatment of the disease
allows parents to prepare emotionally/financially for affectedchildren
some test procedures involve risk 
presence of abnormality may not affect health
positive result causes stress and may lead to emotionalproblems of both affected individual and family members
risk of false negative/false positive
may lead to an increase in abortions
against religious beliefs
costly to administer
can be used by insurers/employers to discriminate againstpeople

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