GENETIC COUNSELLING AND CLONING

What is Genetic Counseling?

Genetic counseling is a vital part of the field of medical genetics

Helping individuals and families understand how genetics affects their

health and lives

What is Genetic Counseling?

A medical process of communication between a physician and a

consultand (counsellee) where scientific knowledge, data and facts are
exchanged in order to provide a framework to understand the genetic
problem of the patient and the family

Objective of Genetic Counseling

To provide information to patients (and/or blood relations of a patient) at

risk of contracting a disease that may be hereditary on:

Consequence of pathology in question

Probability of contracting and transmitting it
Possibility of keeping it in check and treating it
When is counseling indicated?

Advanced maternal age ( a woman in her mid 30s who is either planning
a pregnancy or already is pregnant)
Concerns regarding a disorder which runs in the family (known or
suspected hereditary condition in the family)

Malformations
Mental retardation
 Certain relatives with specific type of malignancy
Hypertension, CAD, DM
When is counseling indicated?

A fetus or child with birth defects including either single or multiple birth
defects
Child with mental retardation
Recurrent spontaneous abortions or still birth
Couples with unexplained infertility
Neurological disorders
Children or adult with developmental delay, learning disabilities.

When is counseling indicated?

Metabolic disorders
People exposed to teratogens, working with chemical and radiation field
Consanguinity
Ethnic group
Problem with wound healing or bleeding
Drug reaction

What Information should be provided?

medical diagnosis and its implications in terms of prognosis and

possible treatment

mode of inheritance of disorder and the risk of developing and/or

transmitting it

choices or options available for dealing with the risks.

 Steps in Genetic Counseling

Diagnosis - based on history, examination and investigations

Risk assessment
Communication
Discussion of Options
Long-term contact and support

Establishing the Diagnosis

most crucial step in any genetic counseling
if incorrect, totally misleading information could be given with tragic
consequences
reaching diagnosis involves three fundamental steps

taking a proper family history

carrying out examination

undertaking appropriate investigations

Establishing the Diagnosis

Information about consultands family is obtained by skilled genetics

nurse or counselor
pre-clinic telephone or home visit is helpful
clinic visit - full examination
appropriate tests - chromosomes, molecular studies, referral to
specialists (neurology, ophthalmology)
PROBLEM - Genetic Heterogeneity, and etiologic heterogeneity

Presenting the Risk

does not simply involve conveying stark risk figures in isolation

parents must be given as much background as possible

as rule of thumb: recurrence risks should be quantified, qualified and

placed in context
 Quantification

Most prospective parents will have some concept of risks

Experience demonstrates that some common misinterpretations occur

a risk of 1 in 4 may be remembered as 4 to 1, 1 in 40, or even 14%

!!!

the risk only applies to every fourth child !!

Quantification

vital to emphasize that the risk applies to each child, and that chance
does not have a memory

genetic counselors should not be seen exclusively as prophets of doom

for example a family with a risk of 1 in 25 for NTD, should be

reminded that in 24 of 25 cases the child will be normal

Qualificationthe nature of a risk

Factors influence parents decision:

Nature of the disease: eg. Polydactaly, or neural tube defects

Whether condition can be successfully treated
Whether it is associated with pain and suffering
Whether prenatal diagnosis is available
Discussing the options

After diagnosis and risk of occurrence/ recurrence was discussed, the

counselor is then obligated to ensure that the consultands are provided
with all information necessary for them to make their own decision.
 Discussing the options

The consultands should know all choices open to them

Availability of prenatal diagnosis, adoption and sensitivity of different

molecular techniques

There are issues which should be broached with great care and
sensitivity

eg termination of pregnancy.
Communication and support

The ability to communicate is essential in genetic counseling

Councellor should be respective to the fear and aspiration expressed by

cunsaltand

The sitting should be agreeable, private and quite and with ample time
for discussion and questions.

Communication and support

Technical terms should be avoided or fully explained

Questions should be answered openly and honestly

A letter should summarising the session usually sent to the family

afterward

Special problems in Genetic counseling

Consanguinity
Disputed paternity
Incest
 Cloning
Natural process

Asexual Reproduction
Identical Twins
Artifical Embryo Twinning:

Older method
Fertilized egg cell is removed and stimulated to divide into two full
sets each able to form new embryos.
Somatic Cell Nuclear Transfer (SCNT)

How Dolly was created in 1997

Genetic Engineering in Medicine

Preventing and fighting disease.

Stem Cell Therapy

Therapeutic cloning
Gene Therapy
SCIDS (severe combined immune deficiency syndrome: "boy
in the bubble")
Cancers (including melanoma, hereditary prostate cancer,
breast, and colon cancer) 2/3rds of research.
Cystic fibrosis
Hemophilia
Rheumatoid arthritis
Hunter's syndrome (an inherited sex linked enzyme disorder)
Inherited high blood cholesterol

Vaccine production (Hepatitis B, influenza, herpes simplex)

 Drug and hormone production (Insulin)
Genetic Engineering in Medicine

Advantages

* Preventing and fighting disease

* Vaccine production (especially cancers)

* Gene Therapy

* Xenotransplatation

* Reproductive Technology

Genetic Engineering in Medicine

Disadvantages

* Arguably the Long term effects still not known

* Use of Embryos in Genetic Engineering (what is technically living)

* Animal exploitation

* Costly and time consuming

Genetic Engineering in Agriculture

Thousands of GM foods and products:

Tomatoes
Tobacco (Quest cigarettes with no/low nicotine)
Strawberries (resistant to frost)
Maize (resistant to pesticides)
Beef (leaner meat)
 Diary cattle (rBST hormone)
Pork (grow faster)
Genetic Engineering in Agriculture

Advantages

* Increase crop production

* Increase livestock production

* Help solve food security issues

* Reduce environmental risk from pesticides/fertilizers

* Reduce pollution and waste (production of GM biofuels).

Genetic Engineering in Agriculture

Disadvantages

* Long term effects still not known

* Affect the biodiversity

* Negatively impact environment (create alien invasive plants)

* Retard natural selection normal evolutionary processes