Recent research marks the role of endogamy in the prevalence of genetic diseases within specific communities in India. A study led by K. Thangaraj at the CSIR-Centre for Cellular and Molecular Biology examined genetic variants across distinct populations. The findings tell the need for targeted healthcare strategies tailored to unique genetic profiles.
About Endogamy
Endogamy refers to the practice of marrying within a specific community. This practice can lead to a higher incidence of genetic diseases due to the limited gene pool. In India, many communities maintain endogamous practices, resulting in unique genetic variations.
Significance of Genetic Variants
The study identified numerous disease-causing genetic variants. Many of these variants are population-specific, meaning they are not found in other groups. This uniqueness contributes to the prevalence of hereditary diseases in certain communities.
Ankylosing Spondylitis and HLA-B27:04
One notable finding was the correlation between ankylosing spondylitis and the HLA-B27:04 risk allele. This genetic variant increases the likelihood of developing this inflammatory arthritis. The Reddy community in Andhra Pradesh showed a particularly high incidence of this condition.
Methodology of the Study
The research involved analysing 281 high-coverage whole exome sequences from four distinct populations. Key factors such as inbreeding and novel genetic variants were examined. The study also looked at pharmacogenomic markers that affect drug metabolism.
Implications for Personalized Medicine
The research uncovered genetic variations that influence responses to common drugs like Tacrolimus and Warfarin. These findings suggest that drug efficacy can vary across different populations. There is potential for developing targeted therapies that improve health outcomes based on genetic profiles.
Need for Genetic Screening and Counselling
The study emphasises the importance of genetic screening and counselling for communities at risk of genetic diseases. About the genetic landscape can lead to better clinical care and preventive measures tailored to specific populations.
Future Directions
The findings pave the way for advancements in diagnostic and therapeutic strategies. There is a need for further research to explore the genetic underpinnings of India’s diverse population. This could enhance healthcare delivery and management of genetic disorders.
Questions for UPSC:
- Discuss the impact of endogamy on genetic diversity and health outcomes in Indian communities.
- Critically examine the role of genetic screening in managing hereditary diseases prevalent in specific populations.
- Explain the significance of pharmacogenomics in personalised medicine and its implications for public health.
- With suitable examples, discuss the relationship between cultural practices and the prevalence of genetic disorders in specific communities.
Answer Hints:
1. Discuss the impact of endogamy on genetic diversity and health outcomes in Indian communities.
- Endogamy restricts gene flow, leading to a limited gene pool within communities.
- This practice increases the risk of inheriting genetic disorders, as seen in specific populations.
- Population-specific diseases, such as ankylosing spondylitis, are prevalent in endogamous communities.
- Genetic variants unique to these groups contribute to health disparities and disease susceptibility.
- Addressing these issues requires targeted healthcare strategies and genetic counseling.
2. Critically examine the role of genetic screening in managing hereditary diseases prevalent in specific populations.
- Genetic screening identifies individuals at risk for hereditary diseases within specific communities.
- It enables early diagnosis, which can lead to timely interventions and better health outcomes.
- Screening can inform personalized treatment plans based on individual genetic profiles.
- Awareness and education about genetic risks can empower communities to make informed reproductive choices.
- Effective screening programs require collaboration between healthcare providers and community leaders.
3. Explain the significance of pharmacogenomics in personalised medicine and its implications for public health.
- Pharmacogenomics studies how genes affect individual responses to drugs, allowing for tailored therapies.
- Genetic variations can influence drug efficacy and safety, as seen with Tacrolimus and Warfarin.
- Personalized medicine improves treatment outcomes by minimizing adverse drug reactions.
- About population-specific drug responses can enhance public health strategies and resource allocation.
- Widespread implementation of pharmacogenomics can lead to more effective healthcare systems globally.
4. With suitable examples, discuss the relationship between cultural practices and the prevalence of genetic disorders in specific communities.
- Endogamy in communities, such as the Reddy community, increases genetic disorder prevalence due to limited genetic diversity.
- Cultural practices, like marrying within the same caste, can perpetuate specific genetic diseases.
- Examples include the higher incidence of certain hereditary conditions in isolated populations.
- Awareness of these links can prompt cultural shifts towards more diverse mating practices.
- Addressing cultural factors is crucial for effective public health interventions and genetic counseling.
