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Home/Anthropology/Mains PYQ/2016/Paper I/Human Genetics & Human Biology
UPSC MainsAnthropology Optional Paper I 2016 15 Marks Model Answer Available

Screening and Counselling for Genetic Disorders — 2016 Paper I

Question · 2016 · Paper I · 15 Marks

Explain the significance of screening and counselling for genetic disorders.

Model Answer

VAID ICS

 Approach

  • Demand of Question: Explain why screening and counselling are complementary: screening identifies risk, counselling enables informed, non-directive decisions. Include ethics and cultural context.
  • Structuring the Response: Define -> types of screening -> counselling workflow and recurrence risk -> public-health significance -> ethical cautions -> anthropological contribution.
  • Key Dimensions to Cover: Carrier/preconception/prenatal/newborn screening; thalassaemia/sickle-cell; pedigree; recurrence risk; informed consent; non-directiveness; stigma/confidentiality; kinship/religion/gender; WHO guidance.

Model Answer

Introduction

Genetic screening and genetic counselling are complementary public-health and clinical tools. Screening identifies individuals or populations at increased genetic risk; counselling converts that information into informed, voluntary decisions.

Body

Screening may be preconception or carrier screening, antenatal screening, prenatal diagnosis or newborn screening. It is particularly useful where a serious disorder is relatively frequent and reliable testing is available, as with thalassaemia, sickle-cell disease, certain metabolic disorders and chromosomal aneuploidies. Screening can detect carriers who are clinically healthy but at risk of having affected children, or identify newborns early enough for treatment.

Genetic counselling begins with an accurate pedigree, clinical diagnosis and estimation of recurrence risk. The counsellor explains the mode of inheritance, available tests, uncertainty, prognosis and reproductive options in language appropriate to the family. For autosomal recessive disease, for example, two carrier parents face a 25% probability of an affected child in each pregnancy. Counselling may accompany prenatal diagnosis or preimplantation testing, but its ethical ideal is non-directiveness rather than coercive “eugenic” decision-making.

Its significance is therefore wider than prevention. It reduces misinformation and anxiety, supports informed consent, promotes early treatment and helps families plan realistically. Population programmes can also reduce severe haemoglobinopathy burden when screening is linked to accessible confirmatory testing and counselling.

Major cautions are false positives, stigma, confidentiality breaches, discrimination and pressure on reproductive choice. Screening without counselling can therefore do harm.

Conclusion

A sound anthropological approach recognises that genetic risk is interpreted through kinship, marriage practices, religion, gender and local ideas of heredity. Effective programmes must combine molecular accuracy with cultural competence, autonomy and equitable access.

2026 Genetic polymorphism and natural selection. 2026 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. 2026 Distinguishing features of nuclear and mitochondrial DNA. 2026 How would you find out that a particular disease/disorder is inherited and, if so, in which manner? Elaborate with suitable examples.

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UPSC Anthropology Optional 2016 — Paper I

28 questions

1(b) Cultural Relativism

10 Marks150 words
Syllabus: Paper I > 2.1 The Nature of Culture > Ethnocentrism vis-a-vis Cultural Relativism
2016Paper ICulture & SocietyModel answer available

5(d) Fertility and Fecundity

10 Marks150 words
Syllabus: Paper I > 11.3 Biological and socio-ecological factors influencing fecundity, fertility, natality and mortality
2016Paper IHuman Genetics & Human BiologyModel answer available

5(e) Forensic Anthropology

10 Marks150 words
Syllabus: Paper I > 12. Applications of Anthropology > Forensic Anthropology
2016Paper IApplied & Forensic AnthropologyModel answer available

1(e) Functionalism

10 Marks150 words
Syllabus: Paper I > 6. Anthropological Theories > Functionalism
2016Paper IAnthropological TheoriesModel answer available

1(c) Lineage and Clan

10 Marks150 words
Syllabus: Paper I > 2.5 Kinship > Descent groups > Lineage and clan
2016Paper IKinshipModel answer available

5(c) Neolithic Cultures of India

10 Marks150 words
Syllabus: Paper I > 1.8(b) Cultural Evolution: broad outlines of prehistoric cultures > Neolithic
2016Paper IPrehistoric ArchaeologyModel answer available

5(a) Rh-Blood Group

10 Marks150 words
Syllabus: Paper I > 9.6 Population variation as genetic marker > ABO and Rh blood groups
2016Paper IHuman Genetics & Human BiologyModel answer available

5(b) Rhodesian Man

10 Marks150 words
Syllabus: Paper I > 1.6 Phylogenetic status, characteristics and distribution > Rhodesian Man
2016Paper IHuman Evolution & PrimatologyModel answer available

1(d) Totemism

10 Marks150 words
Syllabus: Paper I > 5. Religion > Forms of religion > Totemism
2016Paper IAnthropology of ReligionModel answer available