L.O 18 – Describe the principles of gene therapy and distinguish between somatic and germ line therapy.

Gene Line Therapy – involves altering the alleles inside cells to treat the cause of genetic disorders.
Carrying out gene therapy depends on whether the genetic disorder is caused by a dominant or recessive alleles:
• if caused by recessive alleles then a dominant allele can be added to make up for them
• if caused by a dominant alleles then it can be silenced by putting DNA in the middle of the allele so it doesn’t work by stopping it being used to
make protein.

CURING GENETIC DISORDERS

VIRUSES – the DNA sequence that allows the virus to replicate is removed and is replaced with the normal allele of the
desired gene, along with a promoter sequence that initiates transcription and translation of the gene

LIPOSOMES – a copy of the desired normal allele is inserted into a loop of DNA (plasmid) which are then combined with
liposomes (spherical phospholipid bilayers. The positively charged head of the phospholipids combine with the DNA (weak
acid, negatively charged) to form a liposome-DNA complex. With CF, the patient breathes in an aerosol containing these
complexes using a nebuliser then the liposomes fuse with epithelial cell membranes and carry DNA into cells.

TWO TYPES OF GENE THERAPY

SOMATIC THERAPY = involves changing the alleles in body cells particularly those affected by the disorder e.g. cystic fibrosis
is very damaging to the respiratory system so somatic therapy targets epithelial cells lining the lungs. Somatic therapy
doesn't affect the individual’s sex cells so any offspring could still inherit the disease.

GERM LINE THERAPY = involves changing the alleles in the sex cells. This means that any offspring produced from these cells
will be affected by the gene therapy and won’t suffer from the disease.

GERM LINE THERAPY IS CURRENTLY ILLEGAL IN HUMANS.

 GENETIC SCREENING – analysing DNA to identify alleles for genetic disorders

IDENTIFYING CARRIERS

Genetic screening can be performed on any DNA so it is possible to

take cheek cells, white blood cells or cells obtained from a foetus or

embryo. The DNA is tested to see whether it contains known base

sequences for the most common mutations that cause a specific

genetic disorder e.g. Cystic fibrosis.

CONNFIRMING DIAGNOSIS
Genetic screening can confirm diagnosis of genetic disorder. However most of them have a large number of different

mutations which cause a genetic disease. A negative result maybe treated with caution because the test is about 80%

sensitive. False positives are unlikely but false negatives are likely in a situation where and individual has a genetic disorder

but does not have one of the mutations which the test can detect. This is because its not always feasible to test for all of the

hundreds of possible mutations that leads to a genetic disorder like cystic fibrosis.
L.O 19 – Explain the uses of genetic screening: identification of carriers using pre-implantation genetic diagnosis and
prenatal testing (amniocentesis and chronic villus sampling) and discuss the implications of prenatal genetic screening

USES OF GENETIC SCREENING

1. Carrier testing is offered to people with family history of genetic disorders
2. It helps identify whether an individual carries an allele that can cause a
genetic disorder
3. Couple can be tested before having children to determine their chances of
having a child with a genetic disorder
4. It also allows people to make informed decisions about things like prenatal
testing

PRE-IMPLANTATION GENETIC DIAGNOSIS

PIGD is carried out during the in vitro fertilisation (IVF) procedure, making it possible to test an embryo before it is
implanted in the uterus. A cell can be removed from an embryo when it has 8 or 16 cells without harming the embryo.

PRENATAL TESTING

Carried out 15-17 weeks of pregnancy, it
involves a risk of causing a miscarriage between
0.5 to 1%. A sample of amniotic fluid is obtained
using a fine needle. This fluid contains foetal
cells which contain DNA which can be analysed.
Carried out at 8-12 weeks of pregnancy, it
involves a risk of causing a miscarriage 1% to
2%. A sample of cells is taken from the chronic
villi ( part of the foetus that connects it to its
mother) using a fine needle
L.O 20 – Identify and discuss the social and ethical issues related to genetic screening from a range of
ethical view points.

ADVANTAGES OF GENETIC SCEENING

•Early identification of treatable possible treatment for genetic disorder if parents should decide to have a child
•People can make informed decisions
• PIGD reduces the chance of having a baby with genetic disorder
•PIGD avoids the issue of abortion because only the embryo’s without genetic disorders are implanted.
•Utilitarianism – maximising the amount of good in the world some people might argue that it would be in the best interest of
the foetus to abort as they will not be able to live a “normal life”.

DISADVANTAGES ETHICAL AND SOCIAL ISSUES

•If conformed that a person is a carrier could cause emotional stress.
•The tests aren’t always 100% accurate could decision based on incorrect information.
•Other abnormalities may be found and could cause further stress.
•Concerns of genetic discrimination by employers or life insurance companies.
• PIGD can be used to find out other characteristic e.g. Gender, eye colour) leading to concern that in the
future embryo’s will selected for other characteristics (designer babies).
•Prenatal testing increases risk of miscarriage compared to PIGD.
• Prenatal testing raises abortion issues if there is confirmation of a genetic disorder.
•Some people consider it unethical to abort because of religious reasons and human right.
•Utilitarianism – maximising the amount of good in the world some people might argue that killing is not
right and everyone should have a right to life .