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Genetic testing for CF
Genetic testing for CF
Summary
Summary
Needle inserted into amniotic fluid
Needle inserted into amniotic fluid
Needle inserted into amniotic fluid
Needle inserted into amniotic fluid
Needle inserted into amniotic fluid
Needle inserted into amniotic fluid
Transcerivcal CVS
Transcerivcal CVS
Transabdominal CVS
Transabdominal CVS
Remove a cell from the embryo at the 8-16 cell stage (a few days old)
Remove a cell from the embryo at the 8-16 cell stage (a few days old)
Remove a cell from the embryo at the 8-16 cell stage (a few days old)
Remove a cell from the embryo at the 8-16 cell stage (a few days old)
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Genetic testing for CF

содержание презентации «Genetic testing for CF.ppt»
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1Genetic testing for CF. See weblinks/ 27http://news.bbc.co.uk/1/hi/health/6144714.
interactive for genetic screening on snab tm
sit3. http://search.bbc.co.uk/cgi-bin/search/res
2Testing the individual. Since 1 in 25 lts.pl?scope=all&edition=d&q=genet
people in the population are carriers the c+testing&go=Search Video clip.
first time they will realise they carry 28What diseases can be treated with
the CF allele is when they have a baby pre-implantation genetic diagnosis (PGD)?
with CF so testing new born babies http://www.bbc.co.uk/sn/tvradio/programmes
routinely for CF allows early diagnosis, horizon/babies_qa.shtml.
early intervention and management of the 29Moral and ethical dilemmas of genetic
disease condition. CF sufferers have screening. Morals are concerned with
higher levels of salt in the sweat; test ‘goodness’ and ‘badness’ or the
measures the level of salt in sweat. New distinction between what is right and what
born babies screened for higher than is wrong. Ethics are moral principles, or
normal levels of the protein trypsinogen a code of behaviour based on morals.
in blood (inactive form of the pancreatic http://www.beep.ac.uk/content/313.0.html
protease trypsin – pancreatic duct blocked http://www.ornl.gov/sci/techresources/Huma
so cannot be secreted so levels build up). _Genome/elsi/elsi.shtml.
3Genetic screening for the CF gene. 30Positives and Negatives of Genetic
Knowledge of the code in normal CFTR gene Screening? Further Info. Media on Demand
and the abnormal CFTR gene has led to the (need route; start/programs/…. Gene Tech
ability to identify the abnormal gene. Tapes Pt 4. Genetics and Reproduction.
Testing (= screening) for the abnormal CF Bioethics website.
allele of the gene is done; to identify http://www.beep.ac.uk/content/16.0.html
carriers (especially if there is a history http://www.medic8.com/genetic-testing/inde
of CF in the family) to provide .htm
information for genetic counsellors to http://royalsociety.org/page.asp?id=1264.
assess the probability of a couple having 31Positives of Genetic screening.
a child with CF on a newborn baby to Identifies carriers Allows informed
confirm other diagnostic tests on an decisions whether to have children Enables
embryo or foetus so parents will know carriers to get pregnant (previously they
whether their unborn child will have CF so may not have taken the risk) but reduces
important decisions can be made. risk of giving birth to baby carrying a
4How genetic testing is done. Samples genetic disease Embryo test 'offers
of DNA obtained from the nuclei of cells. parents hope' (pre-implantation test for
http://www.ac-creteil.fr/biotechnologies/d Duchene MD)
c_englishbiomol.htm. http://news.bbc.co.uk/1/hi/health/5079802.
5Summary. tm
6How genetic testing is done. Samples http://news.bbc.co.uk/1/hi/health/5093970.
of DNA obtained from the nuclei of cells. tm.
DNA ‘cut up’ into small fragments using 32Allows early intervention prenatal
enzymes. DNA strands separated. Specific testing termination If know, can deal with
defective CFTR allele detected by using a it. Allows a change in life style (e.g.
specific gene probe (small length of DNA for hypercholesterolaemia and risk of
with complimentary base sequence). Gene heart disease) to reduce risk e.g. change
probe will bind to bases in CFTR allele in diet, monitor cholesterol levels etc. In
a way which enables it to be detected. long term may benefit society by reducing
7 costs involved in treatment, support
8How genetic testing is done. Obtaining services etc.
a sample of DNA to be tested. Samples of 33Identification of genes associated
DNA obtained from the nuclei of cells, so with illness.
sample of cells required. From cells from http://search.bbc.co.uk/cgi-bin/search/res
a baby or an adult This could be: a blood lts.pl?q=genes+linked+to+illness&scope
sample cells from lining of mouth But it all&edition=d&tab=all&recipe=a
is also possible to obtain cells from a l&x=23&y=12
developing embryo in the womb. http://www.newscientist.com/channel/health
9From cells from a foetus. Since baby dn12006-biggest-ever-haul-of-genes-linked-
not yet born, sometimes called prenatal o-diseases.html.
testing Cells of baby obtained by 1: 34Negatives of Genetic screening.
Amniocentesis, usually at 15-17 weeks of Knowledge that at risk could lead to
pregnancy. stress, depression (e.g. Huntington’s
10http://www.genetics.com.au/factsheet/1 disease, breast cancer); would you want to
.htm Pre-natal testing. know?
11Needle inserted into amniotic fluid. http://news.bbc.co.uk/1/hi/health/6276656.
Sample of amniotic fluid collected. tm UK scientists have identified a gene
contains cells from placenta and foetus. they say increases the risk of bowel
cells cultured and DNA extracted. cancer by 20%.
12Limitations of amniocentesis. Carried http://news.bbc.co.uk/1/hi/health/7146860.
out quite late in pregnancy Takes several tm Scientists say they have found two
weeks for results to be available so any genetic mutations which could triple the
subsequent termination is more complex risk of developing bowel cancer. Cost of
surgically and more traumatic for the screening/use of resources perhaps better
mother Procedure has a 0.5 – 1% risk of used elsewhere? Who decides what genes to
miscarriage. test for? Confidentiality; who needs to
132: Chorionic villus sampling know? Problems with life insurance
Alternative to amniocentesis. (knowledge about genes affects
14Transcerivcal CVS. expectancy/premiums etc).
http://images.google.co.uk/imgres?imgurl=h 35A temporary ban on the results of
tp://www.americanpregnancy.org/images/lib/ genetic tests being made available to
onagram.jpg&imgrefurl=http://www.ameri insurance companies has been extended by
anpregnancy.org/prenataltesting/cvs.html&a three years. The moratorium which ran out
p;h=200&w=150&sz=10&tbnid=vDb0 in 2011 will now stand until 2014. It
z_C6EkJ:&tbnh=99&tbnw=74&hl=en means people seeking insurance do not have
amp;start=15&prev=/images%3Fq%3Dchorio to reveal the results of genetic tests
ic%2Bvillus%2Bsampling%26svnum%3D10%26hl%3 which could point to the risk of serious
en%26lr%3D%26sa%3DG. illness in the future.
15Transabdominal CVS. Small sample of http://news.bbc.co.uk/1/hi/business/745290
placental tissue removed (includes cells .stm.
of the foetus). DNA extracted. More cells 36Employment Treated differently?
collected so results available in 1 – 7 Everybody has the ‘right to life’. May
days. lead to more terminations? Baby has no
16Advantages of CVS. Carried out earlier ‘say’ in the decision.
in pregnancy - 8-10 weeks Results http://news.bbc.co.uk/1/hi/uk/4350259.stm
available quicker so pregnancy much less http://www.efc.org.uk/Foryoungpeople/Facts
established so termination easier and boutabortion/MoreonUKabortionlaw Potential
(potentially?) less traumatic to the waste of a productive life? Test may
mother But 1 – 2% risk of miscarriage. indicated the risk of developing a
17DNA from an embryo. Sometimes called debilitating life-threatening illness
pre-implantation genetic diagnosis (PIGD) later on in life, but what positive things
Involves collecting several eggs and in could be done before that? (Mozart,
vitro fertilisation to produce several Picasso, Wilfred Owen and many others had
embryos remarkable achievements before they
http://www.genetics.com.au/factsheet/16.ht reached 30 years of age) Ethics of testing
. – embryos (i.e. more embryos than needed
18Remove a cell from the embryo at the will be created, those with mutation
8-16 cell stage (a few days old) and test destroyed- what happens to the rest?
that for the presence of the defective 37Risk of miscarriage of a healthy baby
CFTR allele. Only implant viable embryo Risk of false negatives so serious
without CF mutation to establish decisions based on wrong information (many
pregnancy. [See video clip activity mutations known to cause CF; only
2.19?]. commonest ones are tested for) Private
19Advantages No pregnancy to terminate sector exploitation – choice/whim/money;
Know that baby will not have CF. may pay for test if not available of NHS?
20Disadvantages Expensive IVF itself A company has launched an online service
expensive and still fairly unreliable How that will enable people to receive a
to decide who gets the treatment since profile of their own genome.
cost prevents its availability to all? http://news.bbc.co.uk/1/hi/sci/tech/709899
Possibility of false negatives What is .stm Government advisors have called for
done with the spare embryos? tighter controls on genetic tests sold
21Q&A: Embryo test directly to the public.
http://news.bbc.co.uk/1/hi/health/5093970. http://news.bbc.co.uk/1/hi/health/7121692.
tm Work by scientists could lead to a tm.
non-invasive blood test to detect genetic 38Further Info. Media on Demand (need
abnormalities such as Down's syndrome in route; start/programs/…. Gene Tech Tapes
the womb. Current non-invasive tests - Pt 4. Genetics and Reproduction. Bioethics
such as ultrasound - are limited, and website.
invasive tests pose a risk to the http://www.beep.ac.uk/content/16.0.html
pregnancy. The new technique works by http://www.medic8.com/genetic-testing/inde
examining samples of foetal DNA present in .htm
the mother's blood for tiny variations in http://royalsociety.org/page.asp?id=1264.
the sequence of the genetic material. 39
http://news.bbc.co.uk/1/hi/health/6320273. 40Checkpoint 2.7. ethics of genetic
tm. screening; Is it or is it not acceptable
22What options are there if the test is to terminate a foetus found by
positive for CF? What living with CF is amniocentesis to have CF. Rights and
like duties Every individual born or unborn,
http://news.bbc.co.uk/1/hi/uk_politics/615 has the right to life. Parents have a duty
935.stm. to meet this right. A mother has the right
23What options are there if the test is to continue or not with a pregnancy,
positive for CF? If pre-implantation don’t particularly if the pregnancy presents
implant CF embryo. If pre-natal consider risks to the mother’s physical or mental
termination (not compulsory!). health. Parents have the right to make a
24Why might people choose not to test free and properly informed choice about
even if was offered to them? If parents whether or not to terminate a foetus found
believe, for religious or other reasons, to have a genetic disorder.
that termination is wrong If parents 41Maximising the amount of good in the
consider the risk of miscarriage too high world Unethical to bring a child with a
If parents want to have a child whatever, severe genetic disease into the world if
even if it has cystic fibrosis. this will result in substantial suffering
25This type of test could benefit of the individual, greatly reduce the
parents who are known to be carriers (so happiness of the family, or drain the
at high risk of producing a CF baby) financial resources of society Allowing a
because: Tests carried out early in child with a genetic disease to be born
pregnancy so there is choice early may replace the possibility of a healthy
termintation (less traumatic) if no child being born. Selecting healthy
termination it allows time for preparation children will strengthen, rather than
for early treatment of baby for parents to weaken, the gene pool, reducing the number
come to terms with the issues facing them of faulty genes in the population.
and counselling to help them cope allows 42Making decisions for yourself. It is
for peace of mind if baby found to be up to parents to decider if they are
normal. willing and able to have a child that will
26If both parents are found to be require a special commitment of care.
carriers, what are the options open to 43Leading a virtuous life. Virtuous
them? Decide not to have children; maybe parents would perhaps love and care for
adopt Take the ‘1 in 4 risk’ of child their child irrespective of their physical
being CF Use IVF and only implant non-CF or mental capacities. Virtuous relatives
embryo Have CVS or amniocentesis test once and families would help them.
pregnant and terminate if CF Use 44An effective genetic screening
artificial insemination by donor (who is programme must be. reliable (with no false
not a carrier) to avoid the risk Use egg positives) inexpensive simple (for the
donation (from a non-carrier) to avoid the patient) quick in delivering results
risk. backed up with good education about the
27The first UK babies have been born test counselling as a follow-up to the
after a pioneering embryo test test confidential.
Genetic testing for CF.ppt
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Genetic testing for CF

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