Risks In Genetic Counselling
Determining the recurrence risks in genetic counselling is very important. Risk of being affected by a particular genetic disorder is based on the genetic nature of the disorder and the pedigree of the particular family being counselled. The family member being counselled is usually a relative of the proband. Risks for single gene disorders can be estimated by using basic Mendelian principles, while the risk calculation might be complicated in disorders with decreased penetrance, variability of expression or in diseases caused frequently by new mutations. Bayesian analysis can be used in these cases to analyse information about the particular family being counselled and determine the increase or decrease in previous mendelian risk. Let us consider …show more content…
The important tests to be done, along with pedigree are the following:
A Complete Blood Count along with all red cell indices.
An HPLC (High Performance Liquid Chromatography) and IEF (Isoelectric focussing - electrophoresis) are also done.
A confirmatory testing is performed of all results where abnormal haemoglobin is detected, on the original blood sample using a different technique from the screening test.
State the major ethical and policy issues in medical genetics.
Medical genetics has come to be accepted as a boon to this phase of the Earth, but it has its disadvantages and controversies. Three cardinal principles are cited in the discussion of ethical issues, which are beneficence (doing good for the patient), respect for individual’s autonomy (safeguarding the individual’s rights to control his or her medical care and be free off coercion) and justice (ensuring that all individuals are treated equally). When these principles are in conflict with each other, complex ethical issues begin to arise.
The ethical and policy issues usually faced by a genetic counsellor are:
Genetic testing
Prenatal diagnosis, especially for non-disease traits or sex.
Testing for genes that lead to late - onset
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One reason is that physicians’ duty to protect patient confidentiality is stronger than their duty to family members with whom they have no patient-physician relationship.
Describe the eugenic and dysgenic effects of medical genetics.
A basic understanding eugenics and dysgenics is that, eugenic leads to genetically healthier population, while dysgenics promotes a population carrying mutant hazardous alleles.
As Francis Galton said, Eugenics is the improvement of the population by ‘selection’ of its best specimens for breeding.
There are two major difficulties involved in planning a eugenics program:
The scientific problem of determining which characteristics or traits are truly heritable and to what extent heredity contributes to the particular trait.
The ethical issues involved in determining who will decide when one trait is better than the other and how reproductive behaviour can help further the eugenics program.
Dysgenics is the deterioration of health and well - being of the population by promoting the accumulation of deleterious alleles.
This program increase the incidence of harmful genes, and is highly unfavourable.
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