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
Copper italics in this answer — like this — are the key facts. Each one is unpacked in the Facts & figures rail.
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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Discuss chromosomal aberrations in man illustrating with examples
Next question on this syllabus topic (2015 · Q6(c)). 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.
Same topic · past papers
UPSC has asked this before
These previous-year questions sit on the same topic. Open one to practise the earlier ask.
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2024 · Q4(c) · Anthropology GS 1 · 15 marks
What is genetic counseling? Briefly discuss various steps involved in it.
More from this topic
Q3(c) · UPSC Mains 2026 · Anthropology GS 1 · 15 marks · Solution
Numerical chromosomal aberrations can be due to abnormalities in autosomes as well as sex chromosomes. Elaborate in terms of the effects these have on human body, giving suitable examples
Numerical and structural aberrations (disorders).
Numerical chromosomal aberrations arise from non-disjunction during cell division, leading to abnormal chromosome numbers. Autosomal abnormalities such as Down syndrome, Patau syndrome, and Edwards syndrome cause severe physical and cognitive developmental delays. Sex chromosome abnormalities like Turner syndrome and Klinefelter syndrome result in distinct endocrine, reproductive, and morphological manifestations. Understanding these genetic variations provides essential insights into human variation, heredity, and clinical diagnostics.
Q3(a) · UPSC Mains 2024 · Anthropology GS 1 · 20 marks · Solution
What is meant by karyotype? How does its analysis help in diagnosis of the chromosomal aberrations in man?
Numerical and structural aberrations (disorders).
Karyotype means chromosome complement; karyogram is its ordered image. Metaphase arrest, hypotonic spreading and G-banding permit homologous pairing and notation. It diagnoses trisomy 21, Turner, Klinefelter and other numerical aberrations. It also finds large deletions, inversions and balanced or unbalanced translocations. Multiple cells must be examined for mosaicism. A normal karyotype does not exclude microdeletions or single-gene disease; use FISH, microarray or sequencing appropriately.
Q8(b) · UPSC Mains 2023 · Anthropology GS 1 · 15 marks · Solution
Describe the causes of structural abnormalities of chromosomes with suitable examples.
Numerical and structural aberrations (disorders).
Structural abnormalities rearrange chromosome parts after breakage or unequal crossing-over. Types are deletion, duplication, inversion, translocation, ring, and isochromosome. Cri-du-chat is 5p deletion; 22q11 is a common microdeletion. Philadelphia t(9;22) is a somatic translocation in CML. Robertsonian 14;21 can cause translocation Down syndrome. Balanced parental carriers explain some recurrent unbalanced offspring.