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GENETIC COUNSELLING AND CLONING

What is Genetic Counseling? • Genetic counseling is a vital part of the field of
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 30’s 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
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
• 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 consultand’s 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
• 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
Qualification—the 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
• 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

Natural process

Cloning

– Asexual Reproduction – Identical Twins • Artifical Embryo Twinning: – Older method – Fertilized
– 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 embryo’s.
• 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) – 2/3 rd s 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
• 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 Embryo’s 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 *
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