Q7(b) · UPSC Civil Services Mains 2016 · Anthropology GS 1 · 15 marks · 1 min read

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Explain the significance of screening and counseling for genetic disorders.

Topic: Numerical and structural aberrations (disorders).. Syllabus: (a) Numerical and structural aberrations (disorders). Same official PYQ from year-wise 2016 and Numerical and structural aberrations (disorders)..

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.

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