Revision summary
Screening searches a defined group for genetic risk. Newborn, cascade, and prenatal programmes are the main types. Counselling explains risk without directing the choice. Significance is prevention, early treatment, and informed reproduction. Stigma and eugenics are the failures to avoid.
Model answer
Introduction
Screening finds people at raised risk. Counselling turns that finding into an informed, voluntary decision. Together they are the public face of medical genetics.
Body
Screening
- Population screening targets common, treatable, or preventable conditions: newborn TSH, sickle, thalassaemia in high-prevalence Indian belts.
- Cascade screening starts from a proband and tests relatives, as in familial cancers or translocation Down’s.
- Prenatal tools: NIPT, ultrasound, and diagnostic CVS or amnio after consent.
- Significance: early diet, transfusion programmes, and fewer surprise stillbirths. Harm: false positives and stigma if community work is crude.
Counselling
- Non-directive explanation of recurrence risk, using pedigrees first, as Garrod to modern clinics.
- Sanghvi-type consanguinity contexts need extra care, not blame.
- Significance: autonomy, timing of marriage information, and support after a diagnosis.
- Ethics: confidentiality, the right not to know, and no state eugenics.
Anthropology’s warning
- Screening without counselling is a lab. Counselling without accessible care is empty talk.
Flow diagram
flowchart TD SCR[Screening] --> RISK[Find high risk] RISK --> COU[Counselling] COU --> DEC[Voluntary decision care]
Conclusion
Screening detects risk early. Counselling protects choice and meaning. Their significance in India is thalassaemia, newborn, and prenatal programmes done with consent, not coercion.
Quick related
Students also ask
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Describe the scope of Epidemiological Anthropology in the study of infectious and non-infectious diseases.
Next question in the 2016 paper (Q7). View answer →
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Is screening the same as diagnosis?
No. Screening sorts risk. Diagnosis confirms the condition.
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Should cousins be forbidden to marry?
Counselling states raised recessive risk. A ban is a political act, not the clinic’s first tool.
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