Whole-Genome Sequencing

Whole-Genome Sequencing

This article covers “Daily Current Affairs” and the topic details “Whole-Genome Sequencing”. The topic “Whole-Genome Sequencing” has relevance in the Science and Technology section of the UPSC CSE exam.

For Prelims:

About Whole-Genome Sequencing?

Genome vs. Gene?

For Mains:

GS 3: Science and Technology

Importance of Sequencing Newborn Genomes?

Challenges Associated with Newborn Genome Sequencing?

Way Forward?

Why in the news?

Recently, the use of rapid whole-genome sequencing (WGS) in newborns, including healthy newborns, has emerged as a revolutionary approach to diagnose and treat genetic diseases.

About Whole-Genome Sequencing:

The use of rapid whole-genome sequencing (WGS) in newborns, including healthy infants, has emerged as a groundbreaking approach to diagnose and treat genetic diseases. By providing a comprehensive view of an infant’s genetic makeup, WGS enables healthcare professionals to make fast and effective diagnoses, leading to improved outcomes and reduced healthcare costs. 

  • All organisms have a genome composed of nucleotide bases: Adenine (A), Thymine (T), Cytosine (C), and Guanine (G).
  • The sequence of these bases in an organism’s genome forms its unique DNA fingerprint or pattern.
  • Sequencing refers to the process of determining the order of bases in a genome.
  • Whole-genome sequencing is a laboratory procedure that allows for the complete determination of base order in an organism’s genome in a single process.


Genome vs. Gene:

A genome refers to all of the genetic material in an organism, while a gene is a specific segment of DNA that carries the instructions for creating a particular protein or trait. The genome contains all the genes required to build and maintain an organism, while genes are individual units responsible for specific characteristics.

Importance of Sequencing Newborn Genomes:

  • Rapid Diagnosis of Rare Genetic Diseases: WGS allows for the precise and swift diagnosis of rare genetic diseases that may not be detected by standard screenings.
  • Detection of Treatable Conditions: WGS can identify treatable conditions, enabling early intervention or gene-based therapies for better health outcomes.
  • Insight into Future Health Risks: Sequencing newborn genomes provides valuable information about an individual’s future health risks and predispositions, empowering informed choices and preventive measures.
  • Revelation of Ancestry, Traits, and Carrier Status: WGS can also reveal information about an individual’s ancestry, traits, and carrier status, which holds personal and social value.


Sequencing Healthy Newborns:

  • The BabySeq project in the U.S. is studying the benefits of sequencing newborns for routine care.
  • A study conducted by the project found that over 10% of apparently healthy infants had unanticipated genetic disease risks.
  • Sequencing healthy newborns expands the scope of newborn screening for genetic diseases that may not be detected by standard biochemical tests.


Challenges Associated with Newborn Genome Sequencing:

  • Ethical, Legal, and Social Issues: Generating large amounts of personal and sensitive data raises concerns about privacy, consent, ownership, disclosure, and discrimination.
  • Uncertain or Incidental Findings: Newborn genome sequencing may uncover findings with unclear clinical implications or actionability, potentially causing anxiety, confusion, or harm to the individual or their family.
  • Education and Training: Adequate education and training for healthcare professionals and the public are necessary to ensure proper interpretation and communication of sequencing results.


The Way Forward:

  • Establish Ethical and Legal Frameworks: Develop strong frameworks to address privacy, consent, ownership, disclosure, and discrimination concerns related to personal genomic data in newborn genome sequencing.
  • Integration with Existing Programs: Integrate newborn genome sequencing with existing newborn screening programs, clinical care, and public health services to ensure coordination, quality, and equity.
  • Continuous Research and Evaluation: Conduct ongoing research, evaluation, and feedback to ensure evidence-based practice, innovation, and improvement in newborn genome sequencing.

In conclusion, rapid whole-genome sequencing in newborns, including healthy infants, has the potential to revolutionize genetic disease diagnosis and treatment. However, addressing ethical, legal, and social challenges and ensuring proper integration and research are crucial for the successful implementation of this technology.


Q.1 With reference to agriculture in India, how can the technique of ‘genome sequencing’, often seen in the news, be used in the immediate future? 

  1. Genome sequencing can be used to identify genetic markers for disease resistance and drought tolerance in various crop plants.
  2. This technique helps in reducing the time required to develop new varieties of crop plants.
  3. It can be used to decipher the host-pathogen relationships in crops.

Select the correct answer using the code given below:

(a) 1 only

(b) 2 and 3 only

(c) 1 and 3 only

(d) 1, 2 and 3

Ans: (d)

Q.2 DNA Barcoding can be a tool to:

  1. Assess the age of a plant or animal.
  2. Distinguish among species that look alike.
  3. Identify undesirable animal or plant materials in processed foods.

Which of the statements given above is/are correct?

(a) 1 only

(b) 3 only

(c) 1 and 2

(d) 2 and 3

Ans: (d)

Q.3 What are the research and developmental achievements in applied biotechnology? How will these achievements help to uplift the poorer sections of society?

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