Beruflich Dokumente
Kultur Dokumente
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
Risk estimates are categorized as Empiric risk for chromosomal disorders - depends on the data observed.
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.
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.
THANK YOU