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GENETIC COUNSELLING

Definition:It is a process which involves communicating to the patient and /or his family who is at risk of genetic disorder its consequences,means of transmission(mode of inheritance & risk of occurrence /recurrence),management(curative and supportive) and ways by which it can be prevented. Non-directive counseling standard practice &the counselor should be non-judgmental The ultimate goal is to ensure that an individual or couple can reach their own decisions based on full information about risks and options

Genetic counseling involves 1)Accurate diagnosis- based on family history ,medical history,examination &investigations. 2)Risk assessment 3)Communication 4)Discussion of options 5)Management curative and supportive

For accurate diagnosis Record of history is a must :present &relevant past history,family history,obstetric history, enquiry about consanguinity Pedigree charting indispensable step in genetic counseling Investigations : karyotyping,molecular studies DNA analysis,linkage studies,biochemical studies ,maternal serum screening,carrier detection etc.

RISK ASSESSMENT
To estimate the risk the following has to be taken into account

Mode of inheritance
Analysis of pedigree/family tree

Results of various tests such as linkage studies


To arrive at a risk one has to work out the probability(proportion of times it occurs in a large series of events)

Risk estimates are categorized as Empiric risk for chromosomal disorders - depends on the data observed.

Mendelian for single gene disorders Bayesian analysis(probability)


Recurrence risk should be quantified ,qualified and placed in context Delayed age of onset,variable expression, reduced penetrance result in risk calculations becoming more complex

COMMUNICATION
To transmit the facts to the consultand in an effective(clear,sympathetic,appropriate) manner more acceptable and palatable. Take into account the psychology,attitude of the family members,educational,social&financial background and ethical,moral&legal implications. Two-way process-counselor should also be receptive to the fears and aspirations expressed by the consultand.

DISCUSSION OF OPTIONS
The counselor should provide the details of all the choices open to the consultand.

Availability of prenatal diagnosis-techniques, limitations & risks which are technically feasible and legally permissible Other reproductive options AID,use of donor ova and pre-implantation genetic diagnosis Sterilisation,adoption,
The above options will help in prevention of recurrence of genetic disorder.

MANAGEMENT
Treatment has limited scope.Aims at prevention rather than cure. It is directed towards minimizing the damage by early detection &preventing further irreversible damage.e.g PKU. Psychotherapy. Curative gene therapy Follow up in genetic clinics understand&remember the information.Acceptance of the disease,treatment if possible&counseling towards a more palatable way to lead life may be suggested.Aimed at preventing the disease in other family members by reproductive planning.

SUPPORT ORGANISATIONS
Devoted to self-help are used by families suffering from genetic disorder.

Focus on single disease or group of diseases


Share their experiences,learn how to deal with day to day problems,hear of new development in therapy or prevention & to promote research into the condition. Have internet sites &electronic chat rooms- give and receive information&advice,ask and answer questions&obtain much needed emotional support

SPECIAL PROBLEMS IN GENETIC COUNSELLING


Consanguinity
Incest

Adoption
Disputed paternity-analysis of polymorphic systems-blood groups.Most sensitive technique for paternity testing is genetic fingerprinting

LEGAL IMPLICATIONS
Genetic counseling is the most important part of genetics where genetic knowledge is applied to the improvement of human health.
Suits can be filed against negligent doctors.

OUTCOMES IN GENETIC COUNSELLING


Three main outcomes Recall

Impact on subsequent reproductive behaviour Patient satisfaction

THANK YOU

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